Genetics & Heredity Concept

subject area of

• 15q11.2 microdeletion (BP1–BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: A series of 52 patients  Academic Article
• 2 DIFFERENT MISSENSE MUTATIONS AT ARG 178 OF THE PROTEIN-C (PROC) GENE CAUSING RECURRENT VENOUS THROMBOSIS  Academic Article
• 242 Breakpoints in the 200-kb deletion-prone P20 region of the DMD gene are widely spread  Academic Article
• 45,X/46,XY mosaicism confined to amnion in a stillborn 46,XY male with IUGR.  Conference Paper
• 46,XX/46,XX,r (2)(p25q37) mosaicism: clinical and cytogenetic studies.  Academic Article
• 67. Immune cell phenotypes and cytokine response in a mouse model of sialidase deficiency  Conference Paper
• 68. Impact of tumor necrosis factor-alpha deletion on astrolgliosis and microgliosis in the CNS of Sandhoff mice  Conference Paper
• 69. The therapeutic potential of small pharmacological molecules in the treatment of Sialidosis  Academic Article
• GRIN2Bencephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects  Academic Article
• Kenny-Caffey syndrome  Academic Article
• A 9 nt deletion in mt DNA in 2 siblings with pervasive developmental disorder (PDD) and mitochondrial myopathy.  Conference Paper
• A CGG-Repeat Expansion Mutation inZNF713Causes FRA7A: Association with Autistic Spectrum Disorder in two Families  Academic Article
• A COMBINATION OF TRADITIONAL CYTOGENETIC TECHNIQUES AND INSITU HYBRIDIZATION HAS ALLOWED ELUCIDATION OF THE KARYOTYPE IN 2 YOUNG BOYS WITH ABNORMAL SEX-CHROMOSOME COMPLEMENTS  Conference Paper
• A DNA marker closely linked to the factor IX (haemophilia B) gene  Academic Article
• A FISH study of chromosome fusion in the ICF syndrome: involvement of paracentric heterochromatin but not of the centromeres themselves.  Academic Article
• A GENETIC-LINKAGE STUDY OF HUNTINGTONS-CHOREA  Conference Paper
• A Genome-wide Association Study Identifies Risk Alleles in Plasminogen and P4HA2 Associated with Giant Cell Arteritis  Academic Article
• A Highly Unstable Recent Mutation in Human mtDNA  Academic Article
• A LINKAGE STUDY USING DNA MARKERS LOCALIZES THE GENE FOR X-LINKED DOMINANT CHARCOT-MARIE-TOOTH DISEASE AT XQ13-XQ22  Conference Paper
• A LOW-COPY, CHROMOSOME-SPECIFIC ALPHA SATELLITE DOMAIN LOCATED IN THE PERICENTROMERIC REGION OF HUMAN CHROMOSOME-14  Conference Paper
• A Large-Scale Genetic Analysis Reveals a Strong Contribution of the HLA Class II Region to Giant Cell Arteritis Susceptibility  Academic Article
• A Multiplex Human Syndrome Implicates a Key Role for Intestinal Cell Kinase in Development of Central Nervous, Skeletal, and Endocrine Systems  Academic Article
• A Multiplex Human Syndrome Implicates a Key Role for Intestinal Cell Kinase in Development of Central Nervous, Skeletal, and Endocrine Systems  Academic Article
• A NOVEL PHASE 2A STUDY DESIGN TO INVESTIGATE THE EFFECT OF AT2220 (DUVOGLUSTAT HCL) ON THE PHARMACOKINETICS OF ACID ALPHA-GLUCOSIDASE IN SUBJECTS WITH POMPE DISEASE  Conference Paper
• A NOVEL-APPROACH TO THE PROVISION OF DIAGNOSIS OF HUNTINGTON DISEASE (HD) THROUGH A PREDICTIVE TESTING PROGRAM  Conference Paper
• A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation  Academic Article
• A SATELLITED CHROMOSOME-2  Conference Paper
• A biallelic pathogenic variant in the OGDH gene results in a neurological disorder with features of a mitochondrial disease  Academic Article
• A case of 46,XX,r(X) (p1q1) diagnosed by in situ hybridization  Academic Article
• A common X-linked inborn error of carnitine biosynthesis may be a risk factor for non-dysmorphic autism  Conference Paper
• A complete deletion of the factor IX gene and new TaqI variant in a hemophilia B kindred  Academic Article
• A de novo mutation (C755T; Ser252Phe) in exon 6 of the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease  Academic Article
• A frameshift mitochondrial complex I gene mutation in a patient with dystonia and cataracts: is the mutation pathogenic?  Academic Article
• A genome assembly-integrated dog 1 Mb BAC microarray: a cytogenetic resource for canine cancer studies and comparative genomic analysis  Academic Article
• A genome-wide association study of sporadic ALS in a homogenous Irish population  Academic Article
• A genome-wide scan for common alleles affecting risk for autism  Academic Article
• A huntingtin-mediated fast stress response halting endosomal trafficking is defective in Huntington's disease  Academic Article
• A large-scale candidate gene association study of age at menarche and age at natural menopause  Academic Article
• A model for the genetic etiology of autism spectrum disorders involving alleles at maternal and fetal susceptibility loci.  Conference Paper
• A mutation in the TMEM65 gene results in mitochondrial myopathy with severe neurological manifestations  Academic Article
• A mutation of the myosin heavy chain-7 tail domain results in an autosomal dominant hyaline body myopathy.  Conference Paper
• A new syndrome of ankyloglossia and ulnar ray defects in a Newfoundland kindred  Academic Article
• A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder  Academic Article
• A novel mutation in the PYGM gene in a family with pseudo-dominant transmission of McArdle disease  Academic Article
• A pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsy  Academic Article
• A phase 2a study to investigate drug–drug interactions between escalating doses of AT2220 (duvoglustat hydrochloride) and acid alfa-glucosidase in subjects with Pompe disease  Conference Paper
• A point mutation in the neu1 promoter recruits an ectopic repressor, Nkx3.2 and results in a mouse model of sialidase deficiency  Academic Article
• A polygenic basis for four classical Fredrickson hyperlipoproteinemia phenotypes that are characterized by hypertriglyceridemia  Academic Article
• A proposed mechanism for intermediate atresia ani (AA), based on a porcine case of AA and hypospadias  Academic Article
• A provisionally unique syndrome with features including "molar tooth" sign and "femoral hypoplasia".  Academic Article
• A randomized.controlled trial (RCT) to evaluate the use of misoprostol for second trimester pregnancy termination associated with fetal malformation  Conference Paper
• A rapid and simple electrophoretic method for the detection of mutations involving small insertion or deletion: application to ?-thalassemia  Academic Article
• A rare case of mosaic Down syndrome 46,XY/46,XY, -21, +i(21q)  Academic Article
• A rare subtelomeric deletion syndrome: Wolf Hirschhorn syndrome.  Academic Article
• A significant response to neoadjuvant chemotherapy in BRCA1/2 related breast cancer  Academic Article
• A study to determine the genetic basis of uterine papillary serous adenocarcinoma.  Conference Paper
• A target based approach identifies genomic predictors of breast cancer patient response to chemotherapy  Academic Article
• A trans-ancestral meta-analysis of genome-wide association studies reveals loci associated with childhood obesity  Academic Article
• ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies  Academic Article
• ADULT ONSET POLYCYSTIC KIDNEY-DISEASE (APKD) - CLINICAL ONSET, PROGNOSIS AND ULTRASONOGRAPHIC DETECTION  Conference Paper
• ALLOGENEIC SOMATIC GENE-THERAPY - CORRECTION OF GROWTH-HORMONE DEFICIENCY IN DWARF MICE WITH MICRO-ENCAPSULATED NON-AUTOLOGOUS MYOBLASTS  Conference Paper
• ALPHA-SATELLITE ON CHROMOSOME-7 - MOLECULAR-ORGANIZATION, DNA POLYMORPHISMS, AND CENTROMERIC LOCALIZATION  Conference Paper
• AN ETIOLOGICAL STUDY OF ISOCHROMOSOME-X TURNERS SYNDROME  Academic Article
• AN ONGOING PHASE 2A STUDY TO INVESTIGATE THE EFFECT OF AT2220 (DUVOGLUSTAT HCL) ON THE PHARMACOKINETICS OF ACID ALPHA-GLUCOSIDASE IN SUBJECTS WITH POMPE DISEASE: PRELIMINARY RESULTS  Conference Paper
• ANTENATAL DIAGNOSIS OF GLUTARIC ACIDEMIA  Conference Paper
• ANTI-ZETA WILL RELIABLY DETECT (SEA) DOUBLE ALPHA-DELETIONS  Conference Paper
• AP-2α knockout mice exhibit optic cup patterning defects and failure of optic stalk morphogenesis  Academic Article
• ARYLSULFATASE-C ISOZYMES IN HUMAN-TISSUES  Conference Paper
• ASSIGNMENT AND REGIONAL LOCALIZATION OF A SERIES OF X-CHROMOSOME SPECIFIC DNA PROBES  Conference Paper
• ASSIGNMENT AND REGIONAL LOCALIZATION OF A SERIES OF X-CHROMOSOME SPECIFIC DNA PROBES  Conference Paper
• Abdominal Aortic Aneurysm Is Associated with a Variant in Low-Density Lipoprotein Receptor-Related Protein 1  Academic Article
• Aberrant Drp1-mediated mitochondrial division presents in humans with variable outcomes  Academic Article
• Abnormal fatty acid metabolism in childhood spinal muscular atrophy (SMA) may predispose to perioperative risks for mitochondrial decompensation and liver failure  Conference Paper
• Absence of a Paternally Inherited FOXP2 Gene in Developmental Verbal Dyspraxia  Academic Article
• Absence of congemla1 myotomc dystrophy (CDM) in a baby wth 1000 DMPK CTG repeats born afler a slblmg with CDM  Academic Article
• Absence of germline p16INK4a alterations in p53 wild type Li-Fraumeni syndrome families  Academic Article
• Accelerated decline in lung function in cigarette smokers is associated with TP53/MDM2 polymorphisms  Academic Article
• Achondroplasia-Hypochondroplasia Complex in a newborn.  Conference Paper
• Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel  Academic Article
• Adverse psychological events occurring in the first year after predictive testing for Huntington's disease. The Canadian Collaborative Study Predictive Testing.  Academic Article
• Aerobic training as an adjunctive therapy to enzyme replacement in Pompe disease  Academic Article
• Agnathia-otocephaly complex in a fetus with maternal use of topical 1% salicylate  Academic Article
• Allele frequency data for VNTR locus D17S79: Identification of an internalHaeIII polymorphism in the black population  Academic Article
• Allelic Stability of VNTR Locus 3’αHVR: Linkage Disequilibrium with the Common α-Thalassaemia-1-Deletion of South-East Asia (--SEA/)  Academic Article
• Alterations of erythrocyte ghost protein phosphorylation in the duchenne and myotonic muscular dystrophies  Academic Article
• American Journal of Human Genetics  Journal
• American Journal of Medical Genetics Part C: Seminars in Medical Genetics  Journal
• An adjacent-2 segregation in a balanced familial t(9;15)(q32;q13) with a large centric segment.  Conference Paper
• An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids  Academic Article
• An efficient strategy for gene mapping using multipoint linkage analysis: exclusion of the multiple endocrine neoplasia 2A (MEN2A) locus from chromosome 13.  Academic Article
• An emerging role for Wnt and GSK3 signaling pathways in schizophrenia  Academic Article
• An inversion inv(4)(p12-p15.3) in autistic siblings implicates the 4p GABA receptor gene cluster  Academic Article
• An uncommon 3.4-Mb interstitial deletion at 3q29  Academic Article
• Annals of Human Genetics  Journal
• Anti-ζ Antibody Screening for α-Thalassemia Using Dried Filter Paper Blood  Academic Article
• Apoptotic Cell Death in Mouse Models of GM2 Gangliosidosis and Observations on Human Tay-Sachs and Sandhoff Diseases  Academic Article
• Arthrogryposis multiplex congenita definition: Update using an international consensus‐based approach  Academic Article
• Assessing non-Mendelian inheritance in inherited axonopathies  Academic Article
• Assigning a probability for paternity in apparent cases of mutation.  Academic Article
• Assignment of the bovine attractin (ATRN) gene to chromosome 13q21→q22 by in situ hybridization  Academic Article
• Association between the -455T>C promoter polymorphism of the APOC3gene and the metabolic syndrome in a multi-ethnic sample  Academic Article
• Association between the Lynch syndrome gene MSH2 and breast cancer susceptibility in a Canadian familial cancer registry  Academic Article
• Association of autism severity with a monoamine oxidase A functional polymorphism  Academic Article
• Associations of NOD2 polymorphisms with Erysipelotrichaceae in stool of in healthy first degree relatives of Crohn’s disease subjects  Academic Article
• Attitudes about hereditary breast cancer among diverse breast cancer survivors.  Conference Paper
• Attitudes of high school students toward carrier screening and prenatal diagnosis of cystic fibrosis  Academic Article
• Autosomal dominant hyaline body myopathy in a Saudi Arabian family is linked to chromosome 14q  Conference Paper
• BMC Medical Genomics  Journal
• BRAIN-TARGETED THERAPY FOR MUCOPOLYSACCHARIDOSIS TYPE II DELIVERED BY MICROENCAPSULATED RECOMBINANT CELLS  Conference Paper
• BRCA1 germ-line mutation status, distinctive cell cycle proteins expression and outcome after breast cancer.  Conference Paper
• BRCA2 Variants and cardiovascular disease in a multi-ethnic study  Academic Article
• Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases  Academic Article
• Behavior Genetics: an international journal devoted to research in the inheritance of behavior in animals and man  Journal
• Behavioral and hypothalamic transcriptome analyses reveal sex-specific responses to phenanthrene exposure in the fathead minnow (Pimephales promelas)  Academic Article
• Behavioral characterization and genetic analysis of the Drosophila melanogaster larval response to light as revealed by a novel individual assay.  Academic Article
• Beneficial effects of resveratrol on respiratory chain defects in patients' fibroblasts involve estrogen receptor and estrogen-related receptor alpha signaling  Academic Article
• Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay  Academic Article
• Biallelic variants inWARS2encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy  Academic Article
• Biochemical variability of arylsulphatases‐A,‐B and‐C in cultured fibroblasts from patients with multiple sulphatase deficiency  Academic Article
• Bioinformatic analyses identifies novel protein-coding pharmacogenomic markers associated with paclitaxel sensitivity in NCI60 cancer cell lines  Academic Article
• Biological factor analysis: A three-way (PARAFAC) analysis of twin data.  Conference Paper
• Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007–2014)  Academic Article
• Birth Defects Research Part A: Clinical and Molecular Teratology  Journal
• Blepharophimosis-ptosis-epicanthus inversus syndrome plus  Academic Article
• Bone marrow involvement and obstructive jaundice in Farber lipogranulomatosis: clinical and autopsy report of a new case  Academic Article
• Breakpoint localization of the marker chromosome associated with the cat eye syndrome.  Academic Article
• Breast and ovarian cancer risk perception after prophylactic salpingo-oophorectomy due to an inherited mutation in theBRCA1orBRCA2gene  Academic Article
• Breast cancer gene testing: health care preferences and its costs implications.  Conference Paper
• Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data  Academic Article
• CARUNCLE ABNORMALITIES IN OCULO-AURICULO-VERTEBRAL SPECTRUM  Conference Paper
• CAVEATS TO GENETIC-COUNSELING FOR DISEASES WITH DYNAMIC MUTATIONS - MYOTONIC-DYSTROPHY AT ON EXAMPLE  Conference Paper
• CHARACTERIZATION OF THE MATERNAL GENES INVOLVED IN THE SELECTION AGAINST TRISOMY 16 MOUSE FETUSES  Conference Paper
• CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions  Academic Article
• CHROMOSOMAL FRAGILE SITES IN PATIENTS WITH BIPOLAR AFFECTIVE-DISORDER  Conference Paper
• CHROMOSOME-ABNORMALITIES IN STILLBIRTHS AND NEONATAL DEATHS  Conference Paper
• CHROMOSOME-SPECIFIC HUMAN ALPHA SATELLITE DNA - ISOLATION AND CHARACTERIZATION OF POLYMORPHIC REPEATED DNA FAMILY FROM CHROMOSOME-17 (D17Z1)  Conference Paper
• CK syndrome: another glimpse of neurodevelopmental regulation by cholesterol biosynthesis  Conference Paper
• CLONING OF A BALANCED TRANSLOCATION BREAKPOINT MAPPING IN THE DIGEORGE-SYNDROME CRITICAL REGION  Conference Paper
• COMPLEMENTATION OF ARYLSULFATASE-A IN SOMATIC-CELL HYBRIDS FORMED BY FUSION BETWEEN FIBROBLASTS FROM PATIENTS WITH METACHROMATIC LEUKODYSTROPHY AND MULTIPLE SULFATASE DEFICIENT DISORDER  Conference Paper
• CONGENITAL NEPHROTIC SYNDROME AND BRAIN DYSGENESIS - A NEW SYNDROME  Conference Paper
• CONSTRUCTION OF BRAIN-TARGETED MURINE B-GALACTOSIDASE FOR APPLICATION IN THE TREATMENT OF GM1 GANGLIOSIDOSIS: MOUSE ENZYME LESS SUSCEPTIBLE TO PROTEOLYTIC DEGRADATION THAN HUMAN ENZYME  Conference Paper
• Canadian Open Genetics Repository (COGR): a unified clinical genomics database as a community resource for standardising and sharing genetic interpretations  Academic Article
• Cancer and Pregnancy Outcomes: An Overview of Existing Knowledge and Preliminary Results of a Multicenter Study  Conference Paper
• Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy  Academic Article
• Carrier detection of haemophilia A using DNA markers in families with an isolated affected male  Academic Article
• Carrier frequency of the Smith-Lemli-Opitz IVS8-1GC mutation of the DHCR7 gene in African Americans.  Conference Paper
• Catechol-O-Methyltransferase (COMT) Val 108/158 Metpolymorphism does not modulate executive function in children with ADHD  Academic Article
• Causal Effects of Body Mass Index on Cardiometabolic Traits and Events: A Mendelian Randomization Analysis  Academic Article
• Causal Effects of Body Mass Index on Cardiometabolic Traits and Events: A Mendelian Randomization Analysis  Academic Article
• Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4)  Academic Article
• Cephalometry in adults and children with neurofibromatosis type 1: Implications for the pathogenesis of sphenoid wing dysplasia and the “NF1 facies”  Academic Article
• Challenges and practical solutions for managing secondary genomic findings in primary care  Academic Article
• Characterization of Three Overlapping Deletions Causing X-Linked Lymphoproliferative Disease  Academic Article
• Characterization of clonal chromosome rearrangements using FISH in a cell line derived from ovarian epithelial cancer (EOC).  Conference Paper
• Characterization of patients referred for non-specific intellectual disability testing: the importance of autosomal genes for diagnosis  Academic Article
• Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders  Academic Article
• Chromosome studies at the paediatric necropsy  Academic Article
• Chromosome-specific alpha satellite DNA from human chromosome 1: Hierarchical structure and genomic organization of a polymorphic domain spanning several hundred kilobase pairs of centromeric DNA  Academic Article
• Chromosome-specific alpha satellite DNA: Isolation and mapping of a polymorphic alphoid repeat from human chromosome 10  Academic Article
• Chronic AMPK activation evokes the slow, oxidative myogenic program and triggers beneficial adaptations in mdx mouse skeletal muscle  Academic Article
• Citizens' perspectives on personalized medicine: a qualitative public deliberation study  Academic Article
• Clinical Diagnosis and Management of Cerebral Palsy  Conference Paper
• Clinical Dysmorphology  Journal
• Clinical Genetics: an international journal of genetics and molecular medicine  Journal
• Clinical and cytogenetic study on 30 meningioma patients referred to Ghaem Hospital, North East of Iran  Conference Paper
• Clinical and molecular delineation of the 17q21.31 microdeletion syndrome  Academic Article
• Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. II. Cases without detectable abnormality of the alpha globin complex.  Academic Article
• Clinical genetics provider real-time workflow study  Academic Article
• Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12  Academic Article
• Clinical, enzymatic and molecular characterization of nine new patients with malonyl‐coenzyme A decarboxylase deficiency  Academic Article
• Cloning and characterization of alternatively spliced isoforms of Dp71  Academic Article
• Cloning of a balanced translocation breakpoint in the DiGeorge syndrome critical region and isolation of a novel potential adhesion receptor gene in its vicinity  Academic Article
• Cloning of the cDNA and Gene Encoding Mouse Lysosomal Sialidase and Correction of Sialidase Deficiency in Human Sialidosis and Mouse SM/J Fibroblasts  Academic Article
• Cloning of two genes from the 22q11 deletion syndrome proximal critical region.  Conference Paper
• Combinatorial therapeutic activation with heparin and AICAR stimulates additive effects on utrophin A expression in dystrophic muscles  Academic Article
• Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project  Academic Article
• Common genetic influences identify cognitive and behavioral networks in the Philadelphia Neurodevelopmental Cohort  Conference Paper
• Comparative Biochemistry and Physiology Part D: Genomics and Proteomics  Journal
• Comparative analysis of Shwachman-Diamond syndrome to other inherited bone marrow failure syndromes and genotype-phenotype correlation  Academic Article
• Comparative genomic and functional analyses reveal a novel cis-acting PTEN regulatory element as a highly conserved functional E-box motif deleted in Cowden syndrome  Academic Article
• Comparison of Urinary Acylglycines and Acylcarnitines as Diagnostic Markers of Medium-chain Acyl-CoA Dehydrogenase Deficiency  Academic Article
• Complications of triple pregnancy following intracytoplasmic sperm injection: a case report  Academic Article
• Complications of triple pregnancy following intracytoplasmic sperm injection: a case report  Academic Article
• Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients  Academic Article
• Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements  Academic Article
• Congenital anomalies of the kidney and the urinary tract: A murmansk county birth registry study  Academic Article
• Conserved inserts in the Hsp60 (GroEL) and Hsp70 (DnaK) proteins are essential for cellular growth  Academic Article
• Contribution of SHANK3 Mutations to Autism Spectrum Disorder  Academic Article
• Contribution of SHANK3 mutations to autism spectrum disorder.  Academic Article
• Contribution of common non-synonymous variants in PCSK1 to body mass index variation and risk of obesity: a systematic review and meta-analysis with evidence from up to 331 175 individuals  Academic Article
• Control of RpoS in global gene expression of Escherichia coli in minimal media  Academic Article
• Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders  Academic Article
• Copy number variation in metabolic phenotypes  Academic Article
• Cornelia de Lange syndrome - Prenatal manifestations: Report of four cases.  Conference Paper
• Correction  Academic Article
• Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids  Academic Article
• Correction to: Cystic fibrosis–related diabetes onset can be predicted using biomarkers measured at birth  Academic Article
• Correction to: Long-term health-related quality of life in patients treated with subcutaneous C1-inhibitor replacement therapy for the prevention of hereditary angioedema attacks: findings from the COMPACT open-label extension study  Academic Article
• Correction: Corrigendum: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations  Academic Article
• Correspondence  Academic Article
• Corrigendum to “Six novel mutations in the myophosphorylase gene in patients with McArdle disease and a family with pseudo-dominant inheritance pattern” [Mol. Genet. Metab. 104 (2011) 587–591]  Academic Article
• Counseling and support for regional genetics centers in Great Britain  Academic Article
• Covariance of Isometric and Dynamic Arm Contractions: Multivariate Genetic Analysis  Academic Article
• Cowden Syndrome–Affected Patients with PTEN Promoter Mutations Demonstrate Abnormal Protein Translation  Academic Article
• Cross-Reactive DNA Microarray Probes Lead to False Discovery of Autosomal Sex-Associated DNA Methylation  Academic Article
• Cystic fibrosis–related diabetes onset can be predicted using biomarkers measured at birth  Academic Article
• Cytogenetic and Genome Research  Journal
• Cytogenetic comparison of saola <i>(Pseudoryx nghetinhensis)</i> and cattle <i>(Bos taurus)</i> using G- and Q-banding and FISH  Academic Article
• Cytogenetic survey of a hospital for the mentally retarded  Academic Article
• DAX1/SHP family of the nuclear hormone receptor superfamily appears predisposed to sequence variability.  Conference Paper
• DELIVERY OF A NOVEL GENE-PRODUCT THROUGH MICRO-ENCAPSULATED NON-AUTOLOGOUS CELLS  Conference Paper
• DELIVERY OF MOLECULAR-GENETIC SERVICES - CAN FINITE HEALTH-CARE RESOURCES SUPPORT IT  Conference Paper
• DENOVO TRANSLOCATIONS IN A SELECTED POPULATION  Conference Paper
• DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome  Academic Article
• DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome  Academic Article
• DOES TANDEMLY REPEATED DNA HAVE A BEGINNING AND AN END - MOLECULAR EVOLUTION OF ALPHA SATELLITE DNA  Conference Paper
• DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration  Academic Article
• Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR)  Academic Article
• Data sharing to advance gene‐targeted therapies in rare diseases  Academic Article
• De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay  Academic Article
• De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder  Academic Article
• De novo C-terminal truncating mutations in MN1 cause a neurodevelopmental syndrome with distinctive facial features  Conference Paper
• De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy  Academic Article
• De novo heterozygous HSPD1 variants: A novel mechanism in hypomyelinating leukodystrophy type 4?  Conference Paper
• De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling  Academic Article
• De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features  Academic Article
• Decision Analysis of Prenatal Testing for Chromosomal Disorders: What Do the Preferences of Pregnant Women Tell Us?  Academic Article
• Decreased ventilator use in a 27-year-old man with late-onset Pompe disease within one year of using alglucosidase-alfa  Conference Paper
• Deep intronic variant in MVK as a cause for mevalonic aciduria initially presenting as non‐syndromic retinitis pigmentosa  Academic Article
• Defining the clinical phenotype of Saul–Wilson syndrome  Academic Article
• Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly  Academic Article
• Deletion of tumor necrosis factor-α ameliorates neurodegeneration in Sandhoff disease mice  Academic Article
• Deletion ofMAP2K2/MEK2: a novel mechanism for a RASopathy?  Academic Article
• Delivery of molecular genetic services within a health care system: time analysis of the clinical workload. The Molecular Genetic Study Group.  Academic Article
• Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing  Academic Article
• Detection of Severe Nondeletionalα-Thalassemia Mutations Using a Single-Tube Multiplex ARMS Assay  Academic Article
• Detection of a de novo mutation in a family with SMA Type I: The importance of dosage testing  Academic Article
• Detection of novel centromeric polymorphisms associated with alpha satellite DNA from human chromosome 11  Academic Article
• Development and Pilot Evaluation of Novel Genetic Educational Materials Designed for an Underserved Patient Population  Academic Article
• DiGeorge syndrome and related syndromes associated with 22q11.2 deletions. A review.  Academic Article
• Diagnosis and high incidence of hyperornithinemia‐hyperammonemia‐homocitrullinemia (HHH) syndrome in northern Saskatchewan  Academic Article
• Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society  Academic Article
• Diagnosis of Complex I Deficiency in Patients with Lactic Acidemia Using Skin Fibroblast Cultures  Academic Article
• Diagnosis of ‘possible’ mitochondrial disease: an existential crisis  Academic Article
• Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions  Academic Article
• Diaspora, migration, and the sciences: a new integrated perspective  Academic Article
• Differential Y‐chromosome Anatolian Influences on the Greek and Cretan Neolithic  Academic Article
• Differential expression and localization of NEU1 and NEU4 in the CNS of mouse models of GM2 gangliosidoses  Academic Article
• Difficulties encountered in a randomization trial of CVS versus amniocentesis for prenatal diagnosis  Academic Article
• Dinucleotide repeat polymorphism at the D21S65 locus  Academic Article
• Direct duplication of 4p14p15.31.  Conference Paper
• Disentangling the autism phenotype; a sib-pair analysis.  Conference Paper
• Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes  Academic Article
• Distribution of CFTR mutations in Saguenay-Lac-Saint-Jean: proposal of a panel of mutations for population screening  Academic Article
• Distribution of CFTR mutations in Saguenay-Lac-Saint-Jean: proposal of a panel of mutations for population screening (vol 10, pg 201, 2008)  Academic Article
• Distribution of CFTR mutations in Saguenay– Lac-Saint-Jean: proposal of a panel of mutations for population screening  Academic Article
• Do commonin silicotools predict the clinical consequences of amino-acid substitutions in the CFTR gene?  Academic Article
• Does family history predict the age at onset of new breast cancers inBRCA1andBRCA2mutation-positive families?  Academic Article
• Double aneuploidy (47,XX,21+-45,X) arising through simultaneous double non-disjunction.  Academic Article
• Dramatically Different Phenotypes in Mouse Models of Human Tay-Sachs and Sandhoff Diseases  Academic Article
• Duplication 1q32-q44 and multiple congenital anomalies.  Conference Paper
• Dysfunctional autophagy impairs muscle regeneration in lysosomal diseases  Academic Article
• Dysmorphic facial features, CNS abnormalities, hand malformations, and myocardial cytomegaly in three female fetuses: A familial fetal neurodegenerative disorder?  Conference Paper
• Dysmorphic features, multiple congenital anomalies, and preaxial polydactyly of feet: Diabetic embryopathy or a malformation syndrome?  Conference Paper
• EBV transformation and cell culturing destabilizes DNA methylation in human lymphoblastoid cell lines  Academic Article
• EFFECT OF BONE-MARROW TRANSPLANT OF THE BEHAVIORAL ABNORMALITIES OF A MURINE MODEL OF MUCOPOLYSACCHARIDOSIS TYPE-VII (SLY DISEASE)  Conference Paper
• EXPRESSION STUDIES OF 2 MISSENSE MUTATIONS IN BETA-GALACTOSIDASE THAT RESULT IN GM1-GANGLIOSIDOSIS  Conference Paper
• Economic Considerations for Health Insurance Coverage of Emerging Genetic Tests  Academic Article
• Economic Evaluations Conducted for Assessment of Genetic Testing Technologies: A Systematic Review  Academic Article
• Ectomorphic body habitus, microcephaly, developmental delay with characteristic facial phenotype  Academic Article
• Effects of Dystrophin Isoforms on Signal Transduction through Neural Retina: Genotype–Phenotype Analysis of Duchenne Muscular Dystrophy Mouse Mutants  Academic Article
• Effects of novel beta-glucocerebrosidase enhancers and pharmacological chaperones on protein stability/dynamics probed by hydrogen-deuterium exchange mass spectrometry  Conference Paper
• Efficient identification of retinoblastoma gene mutations enhances health care.  Conference Paper
• Electrophoretic variants of human 6-phosphogluconate dehydrogenase: population and family studies and description of a new variant  Academic Article
• Endoplasmic reticulum stress derives neurodegeneration in the spinal cord of Sandhoff disease mice  Academic Article
• Erratum  Academic Article
• Erratum to: Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project  Academic Article
• Establishment of a transcription map in the 22q11.2 microdeletion syndrome critical region.  Conference Paper
• Estimating the clinical cost of drug development for orphan versus non-orphan drugs  Academic Article
• Ethical and legal dilemmas arising during predictive testing for adult-onset disease: the experience of Huntington disease.  Academic Article
• European Journal of Human Genetics  Journal
• European Journal of Medical Genetics  Journal
• European Reference Networks and Guideline Development and Use: Challenges and Opportunities  Academic Article
• Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders  Academic Article
• Evaluation of ductus venosus blood flow as a screening marker for Down syndrome in the first-trimester  Conference Paper
• Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network  Academic Article
• Evidence for synergistic effects of PRNP and ATP7Bmutations in severe neuropsychiatric deterioration  Academic Article
• Evidence synthesis and guideline development in genomic medicine: current status and future prospects  Academic Article
• Evolutionary origins of two tightly linked mutations in arylsulfatase-A pseudodeficiency  Academic Article
• Examining the shared genetic architecture of risk tolerance and related behaviors  Conference Paper
• Excess of deletions of maternal origin in the DiGeorge/Velo-cardio-facial syndromes. A study of 22 new patients and review of the literature  Academic Article
• Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA  Academic Article
• Exome Sequencing as a Diagnostic Tool for Pediatric‐Onset Ataxia  Academic Article
• Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect  Academic Article
• Exosome-mRNA (EXERNA) therapy for Pompe disease  Conference Paper
• Exosome-mRNA and exosome-protein therapy for Niemann-Pick disease type C  Conference Paper
• Exosome-mRNA therapy for Gaucher disease  Conference Paper
• Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease  Academic Article
• Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease  Academic Article
• Expanding the Genetic Spectrum of Cytosolic Phosphoenolpyruvate Carboxykinase Deficiency  Conference Paper
• Experimental hyperphenylalaninemia in the pregnant guinea pig: Possible phenylalanine teratogenesis and p-chlorophenylalanine embryotoxicity  Academic Article
• Expression of the dystrophin isoform Dp71 in differentiating human fetal myogenic cultures  Academic Article
• FAMILY STUDIES FOLLOWING CYTOGENETIC ANALYSIS OF EARLY SPONTANEOUS-ABORTIONS  Conference Paper
• FISH of kidney touch preparation: a useful approach to chromosome studies of products of conception.  Conference Paper
• FULL EXPRESSION OF HUNTERS DISEASE IN A FEMALE WITH AN X-CHROMOSOME DELETION LEADING TO NONRANDOM INACTIVATION  Academic Article
• Familial non-syndromic conotruncal defects are not associated with a 22q11 microdeletion  Academic Article
• Familial pericentric inversion of chromosome 19, inv(19) (p13q13) with a note on genetic counseling of pericentric inversion carriers  Academic Article
• Family system characteristics and psychological adjustment to cancer susceptibility genetic testing: a prospective study  Academic Article
• Filipino ?-thalassemia due to a large deletion: identification of the deletion end points and polymerase chain reaction (PCR)-based diagnosis  Academic Article
• Five novel mutations in the lysosomal sialidase gene (NEU1) in type II sialidosis patients and assessment of their impact on enzyme activity and intracellular targeting using adenovirus-mediated expression  Academic Article
• Five year study of prenatal testing for Huntington's disease: demand, attitudes, and psychological assessment.  Academic Article
• Fixed-bin analysis for statistical evaluation of continuous distributions of allelic data from VNTR loci, for use in forensic comparisons.  Academic Article
• Fumarase deficiency: a rare disorder on the crossroads of clinical and metabolic genetics, neurology and cancer  Academic Article
• Functional rescue of vitamin C synthesis deficiency in human cells using adenoviral-based expression of murine l-gulono-γ-lactone oxidase  Academic Article
• Further localization of X-linked hydrocephalus in the chromosomal region Xq28.  Academic Article
• Galactitol catabolism in Sinorhizobium meliloti is dependent on a chromosomally encoded sorbitol dehydrogenase and a pSymB-encoded operon necessary for tagatose catabolism  Academic Article
• Gaucher disease. III. Substrate specificity of glucocerebrosidase and the use of nonlabeled natural substrates for the investigation of patients.  Academic Article
• Gene symbol: ARSA.  Academic Article
• Gene symbol: ARSA.  Academic Article
• Gene therapy for Fabry disease patients: The importance of efficient biomarker monitoring  Conference Paper
• Gene-centric Meta-analysis in 87,736 Individuals of European Ancestry Identifies Multiple Blood-Pressure-Related Loci  Academic Article
• Gene-centric meta-analyses for central adiposity traits in up to 57 412 individuals of European descent confirm known loci and reveal several novel associations  Academic Article
• Gene-centric meta-analyses of 108 912 individuals confirm known body mass index loci and reveal three novel signals  Academic Article
• Gene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disorders  Academic Article
• Generation of a genomic tiling array of the human Major Histocompatibility Complex (MHC) and its application for DNA methylation analysis  Academic Article
• Genetic Analysis of 103 Candidate Genes for Coronary Artery Disease and Associated Phenotypes in a Founder Population Reveals a New Association between Endothelin-1 and High-Density Lipoprotein Cholesterol  Academic Article
• Genetic Counseling  Journal
• Genetic Susceptibility to West Nile Virus and Dengue  Academic Article
• Genetic Testing and Molecular Biomarkers  Journal
• Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations  Academic Article
• Genetic analysis of the maternal factors controlling the survival of trisomy 16 mouse fetuses  Academic Article
• Genetic and Environmental Influences on the Frequency of Orgasm in Women  Academic Article
• Genetic and environmental influences on the frequency of orgasm in women  Conference Paper
• Genetic basis of cannabis use: a systematic review  Academic Article
• Genetic implications and health consequences following the Chernobyl nuclear accident  Academic Article
• Genetic mapping of DNA segments relative to the locus for the fragile-X syndrome at Xq27.3.  Academic Article
• Genetic mapping of X-linked albinism-deafness syndrome (ADFN) to Xq26.3-q27.I.  Academic Article
• Genetic redundancy is prevalent within the 6.7 Mb Sinorhizobium meliloti genome  Academic Article
• Genetic variants at 2q24 are associated with susceptibility to type 2 diabetes  Academic Article
• Genetic variants of MARCO are associated with susceptibility to pulmonary tuberculosis in a Gambian population  Academic Article
• Genetic variations in the quantitative control of erythrocyte glucose‐6‐phosphate dehydrogenase activity  Academic Article
• Genetical studies on a variant of human lactate dehydrogenase (subunit A)  Academic Article
• Genetics and Molecular Biology  Journal
• Genetics in Medicine  Journal
• Gene‐targeted therapies: Towards equitable development, diagnosis, and access  Academic Article
• Genome-wide Association Analysis of Blood-Pressure Traits in African-Ancestry Individuals Reveals Common Associated Genes in African and Non-African Populations  Academic Article
• Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes  Academic Article
• Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations  Academic Article
• Genomics  Journal
• Genotype and phenotype in 12 additional individuals with SATB2 -associated syndrome  Academic Article
• Genotype-phenotype correlations in recessive RYR1-related myopathies  Academic Article
• Germline Mutations and Variants in the Succinate Dehydrogenase Genes in Cowden and Cowden-like Syndromes  Academic Article
• Glucose levels controlled with an insulin pump in a patient with combined glycogen storage disease type 1a and type 1 diabetes mellitus  Conference Paper
• Good response to chemotherapy (CT) and hormonotherapy (HT) in patients with BRCA1-related breast cancer (BRCA1-BC).  Conference Paper
• Guanidinoacetate methyltransferase (GAMT) deficiency: Outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring  Academic Article
• Hb FM-Fort Ripley: Confirmation of autosormal dominant inheritance and diagnosis by PCR and direct nucleotide sequencing  Academic Article
• HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update  Academic Article
• HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server  Academic Article
• Health effects of the CPT1A P479L variant: responsible public health policy  Academic Article
• Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada  Academic Article
• Health-Related Quality-of-Life Assessment of Prenatal Diagnosis: Chorionic Villi Sampling and Amniocentesis  Academic Article
• Health-care providers’ perspectives on uncertainty generated by variant forms of newborn screening targets  Academic Article
• Hepatic gene expression profiling in zebrafish (Danio rerio) exposed to the fungicide chlorothalonil  Academic Article
• Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations  Academic Article
• Hereditas  Journal
• Heritability of Childhood Music Engagement and Associations with Language and Executive Function: Insights from the Adolescent Brain Cognitive Development (ABCD) Study  Academic Article
• Heterozygous NOTCH1 deletion associated with variable congenital heart defects  Academic Article
• Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling  Academic Article
• Holoprosencephaly, sacral anomalies, and situs ambiguus in an infant with partial monosomy 7q/trisomy 2p and SHH and HLXB9 haploinsufficiency  Academic Article
• Human Biology (Detroit): the international journal of population biology and genetics  Journal
• Human Genetics  Journal
• Human Genomics  Journal
• Human Heredity: international journal of human and medical genetics  Journal
• Human Molecular Genetics  Journal
• Human Mutation  Journal
• Hunter disease (mucopolysaccharidosis type II) in a karyotypically normal girl  Academic Article
• Huntingtin N17 domain is a reactive oxygen species sensor regulating huntingtin phosphorylation and localization  Academic Article
• Huntingtin contains a highly conserved nuclear export signal  Academic Article
• Huntingtin has a membrane association signal that can modulate huntingtin aggregation, nuclear entry and toxicity  Academic Article
• Huntingtin is a scaffolding protein in the ATM oxidative DNA damage response complex  Academic Article
• Hypersensitive PCR, Ancient Human mtDNA, and Contamination  Academic Article
• Hypolipidaemia among patients with PMM2-CDG is associated with low circulating PCSK9 levels: a case report followed by observational and experimental studies  Academic Article
• ICF SYNDROME (IMMUNODEFICIENCY, CENTROMERIC INSTABILITY AND FACIAL ANOMALIES) - INVESTIGATION OF HETEROCHROMATIN ABNORMALITIES AND REVIEW OF CLINICAL OUTCOME  Academic Article
• IDENTIFYING NOVEL PHARMACOLOGICAL CHAPERONES FOR LYSOSOMAL DISEASES USING A HIGH THROUGHPUT APPROACH  Conference Paper
• IN VITRO EFFECT OF NB-DGJ ON ARYLSULFATASE-A DEFICIENT FIBROBLASTS  Conference Paper
• INACTIVATION PROPERTIES AT THE ARYLSULFATASE-C LOCUS  Conference Paper
• INBORN ERRORS OF MUSCLE METABOLISM IMPLICATED IN RISK FOR STATIN-INDUCED MYOPATHY  Conference Paper
• INDUCTION OF FRAGILE SITES BY APHIDICOLIN AND METHOTREXATE IN HUMAN EMBRYONIC-CELLS  Conference Paper
• INTERSTITIAL DELETION OF CHROMOSOME-7 - A CASE-REPORT AND REVIEW OF THE LITERATURE  Academic Article
• Identification and functional analysis ofCITED2 mutations in patients with congenital heart defects  Academic Article
• Identification and in-silico characterization of splice-site variants from a large cardiogenetic national registry  Academic Article
• Identification of Multiple Genetic Susceptibility Loci in Takayasu Arteritis  Academic Article
• Identification of complex DNA polymorphisms based on variable number of tandem repeats (VNTR) and restriction site polymorphism  Academic Article
• Identification of interstitial maternal uniparental disomy (UPD) (14) and complete maternal UPD(20) in a cohort of growth retarded patients  Academic Article
• Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD)  Academic Article
• Identification of nine novelDHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS)  Academic Article
• Identification of susceptibility loci for Takayasu arteritis through a large multi-ancestral genome-wide association study  Academic Article
• Identification of twelve new arylsulfatase A gene mutations in metachromatic leukodystrophy (MILD) patients.  Conference Paper
• Identification of two novel β°-thalassemia mutations in a filipino family: Frameshift codon 67 (− TG) and a β-globin gene deletion  Academic Article
• Identifying genetically informative phenotypes in autism spectrum disorders (ASD).  Conference Paper
• Identifying gene–gene interactions that are highly associated with four quantitative lipid traits across multiple cohorts  Academic Article
• Immunochip Analysis Identifies Multiple Susceptibility Loci for Systemic Sclerosis  Academic Article
• Impact of Maternal Overweight during Pregnancy on the Newborn Gut Microbiome  Conference Paper
• Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes  Academic Article
• Incidence of Smith-Lemli-Opitz syndrome in Canada: results of a 36 month surveillance program.  Conference Paper
• Indian Journal of Human Genetics  Journal
• Individual and family characteristics associated with protein truncating BRCA1 and BRCA2 mutations in an Ontario population based series from the Cooperative Family Registry for Breast Cancer Studies  Academic Article
• Individual common variants exert weak effects on the risk for autism spectrum disorders  Academic Article
• Induction of the interleukin 6/ signal transducer and activator of transcription pathway in the lungs of mice sub-chronically exposed to mainstream tobacco smoke  Academic Article
• Influence of Genetic Ancestry on Human Serum Proteome  Conference Paper
• Information needs of women at risk for hereditary breast cancer.  Conference Paper
• Integrating GWAS of ADHD and continuous ADHD-related traits  Conference Paper
• Interspecific comparisons of 35 nuclear receptor superfamily members show the NROB subfamily to be permissive for sequence variability.  Conference Paper
• Interstitial 22q11 microdeletion excluding the ADU breakpoint in a patient with DiGeorge syndrome  Academic Article
• Is there an effect of intranasal insulin on development and behaviour in Phelan-McDermid syndrome? A randomized, double-blind, placebo-controlled trial  Academic Article
• Isolation and Mapping of 45 NotI Linking Clones to Chromosome 22  Academic Article
• Isolation and characterization of polymorphic microsatellite loci in plainfin midshipman fish  Academic Article
• Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation  Academic Article
• Isolation of a novel gene from the DiGeorge syndrome critical region with homology to Drosophila gdl and to human LAMC1 genes  Academic Article
• Isolation of a zinc finger gene consistently deleted in DiGeorge syndrome  Academic Article
• Journal of Genetic Counseling  Journal
• Journal of Human Genetics  Journal
• Journal of Inherited Metabolic Disease  Journal
• Journal of Medical Genetics  Journal
• K45R variant of squalene synthase increases total cholesterol levels in two study samples from a French Canadian population  Academic Article
• Ketogenic therapy as an adjunct to ERT for Pompe disease  Conference Paper
• Key terms and definitions in acute porphyrias: Results of an international Delphi consensus led by the European porphyria network  Academic Article
• Kinematic Analysis of Drosophila Larval Locomotion in Response to Intermittent Light Pulses  Academic Article
• LACK OF EXPANSION OF TRIPLET REPEATS IN THE FMR1, FRAXE, AND FRAXF GENES IN MULTIPLEX MALE FAMILIES WITH AUTISM AND PERVASIVE DEVELOPMENTAL DISORDERS  Conference Paper
• LINKAGE OF MULTIPLE ENDOCRINE NEOPLASIA TYPE-2A (MEN2A) AND A NEW DNA MARKER (D10S5) AT 10Q21.1  Conference Paper
• LIVER DYSFUNCTION IMPROVING WITH FRUCTOSE RESTRICTION IN A PATIENT WITH ABNORMAL ISOELECTRIC FOCUSING OF SERUM GLYCOPROTEINS: A CASE REPORT  Conference Paper
• Large-Scale Gene-Centric Meta-Analysis across 39 Studies Identifies Type 2 Diabetes Loci  Academic Article
• Large-Scale Gene-Centric Meta-Analysis across 39 Studies Identifies Type 2 Diabetes Loci  Academic Article
• Large-Scale Gene-Centric Meta-analysis across 32 Studies Identifies Multiple Lipid Loci  Academic Article
• Large-scale genetic study of risk tolerance and risky behaviors identifies new loci and reveals shared genetic influences  Conference Paper
• Late diagnosis of maternal glutaric acidemia type 1 through expanded newborn screening  Conference Paper
• Linkage analysis of a DNA marker localized to 20p12 and multiple endocrine neoplasia type 2A.  Academic Article
• Linkage analysis of seven kindreds with the X-linked lymphoproliferative syndrome (XLP) confirms that the XLP locus is near DXS42 and DXS37  Academic Article
• Linkage disequilibrium and modification of risk for Huntington disease.  Academic Article
• Live cell imaging and biophotonic methods reveal two types of mutant huntingtin inclusions  Academic Article
• Localization and linkage of three polymorphic DNA sequences on human chromosome 20  Academic Article
• Localization by FISH of the 31 Texas nomenclature type I markers to both Q- and R-banded bovine chromosomes  Academic Article
• Localization of dystrophin isoform Dp71 to the inner limiting membrane of the retina suggests a unique functional contribution of Dp71 in the retina  Academic Article
• Loci Related to Metabolic-Syndrome Pathways Including LEPR,HNF1A, IL6R, and GCKR Associate with Plasma C-Reactive Protein: The Women's Genome Health Study  Academic Article
• Loci influencing blood pressure identified using a cardiovascular gene-centric array  Academic Article
• Loci influencing blood pressure identified using a cardiovascular gene-centric array  Academic Article
• Long-Term Follow-up for Patients with Mitochondrial Carbonic Anhydrase 5A Deficiency  Conference Paper
• Long-chain hydroxydicarboxylic aciduria, carnitine depletion and acetaminophen exposure  Academic Article
• Long-term correction of sialidase deficiency in cells and mice by recombinant helper-dependent adenovirus-mediated gene transfer.  Conference Paper
• Long-term health-related quality of life in patients treated with subcutaneous C1-inhibitor replacement therapy for the prevention of hereditary angioedema attacks: findings from the COMPACT open-label extension study  Academic Article
• Low expression of long-chain acyl-CoA dehydrogenase in human skeletal muscle  Academic Article
• Low‐depth sequencing for copy number abnormalities in multiple myeloma supersedes fluorescent in situ hybridization in scope and resolution  Academic Article
• MAPPING OF A REPETITIVE 1.8 KB KPNL SEQUENCE TO THE SHORT ARM OF CHROMOSOME-15  Conference Paper
• MG-119 The evolving features of nicolaides-baraitser syndrome – a case report of a twenty-years follow-up  Academic Article
• MG-123 Exonic and intronic NRXN1 deletions: Novel genotype-phenotype correlations  Academic Article
• MG-143 Age is significantly associated with the bone marrow engraftment in patients with allogeneic stem cell transplantation  Academic Article
• MICROENCAPSULATED BRAIN-TARGETED THERAPY FOR METACHROMATIC LEUKODYSTROPHY  Conference Paper
• MOLECULAR ANALYSIS OF THE SUPERNUMERARY CHROMOSOME IN CAT EYE SYNDROME  Conference Paper
• MOLECULAR AND GENETIC-CHARACTERIZATION OF CHROMOSOME-SPECIFIC SUBSETS OF HUMAN ALPHA-SATELLITE DNA  Conference Paper
• MORBIDITY RISKS IN MOOD DISORDERS  Conference Paper
• Macrocephaly, growth failure, translucent skin, renal cysts, coarctation of the aorta, and cholestasis: novel features of a new syndrome – the del17q12 syndrome  Academic Article
• Magnetic resonance findings may aid in diagnosis of protracted febrile myalgia syndrome: a retrospective, multicenter study  Academic Article
• Mammalian Genome  Journal
• Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1  Academic Article
• Mapping of the human adenylosuccinate lyase (ADSL) gene to chromosome 22q13.1→q13.2  Academic Article
• Mapping of the metalloproteinase gene matrilysin (MMP7) to human chromosome 11q21→q22  Academic Article
• Maternal History of Oceania from Complete mtDNA Genomes: Contrasting Ancient Diversity with Recent Homogenization Due to the Austronesian Expansion  Academic Article
• Maternal Uniparental Isodisomy of Human Chromosome 14 Associated with a Paternal t(13q14q) and Precocious Puberty  Academic Article
• Maximum Likelihood Estimation of Genetic, Environmental and Phenotypic Factor Scores  Conference Paper
• Measurement of urine porphyrins and porphyrinogens  Academic Article
• Medizinische Genetik  Journal
• Meiotic analysis of a pericentric inversion, inv(7) (p22q32), in the father of a child with a duplication-deletion of chromosome 7  Academic Article
• Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height  Academic Article
• Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height  Academic Article
• Meta-analysis of SNPs involved in variance heterogeneity using Levene’s test for equal variances  Academic Article
• Meta-analysis of genetic association studies under heterogeneity  Academic Article
• Microarray analysis of RpoS-mediated gene expression in Escherichia coli K-12  Academic Article
• Microassay of tyrosine-amino transferase and p-hydroxyphenylpyruvic acid oxidase in mammalian liver and patients with hereditary tyrosinemia  Academic Article
• Miglustat as a therapeutic agent: prospects and caveats  Academic Article
• Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy  Academic Article
• Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities  Academic Article
• Modifier gene study of meconium ileus in cystic fibrosis: statistical considerations and gene mapping results  Academic Article
• Modulation of 5-hydroxytryptamine 4 (5HT4) receptor isoform expression predisposes to atrial fibrillation after coronary artery bypass surgery.  Conference Paper
• Molecular Analysis and Prenatal Diagnosis of Human Fumarase Deficiency  Academic Article
• Molecular Genetics and Genomics: an international journal  Journal
• Molecular Genetics and Metabolism  Journal
• Molecular Polymorphism and Divergence of Duplicated Genes in Tetraploid African Clawed Frogs <b><i>(Xenopus)</i></b>  Academic Article
• Molecular analysis and genotype-phenotype correlation of Diamond-Blackfan anemia  Academic Article
• Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression  Academic Article
• Molecular characterization of chromosome 4p inversion breakpoints in two autistic siblings.  Conference Paper
• Molecular cloning of thentrA gene of the broad host-rangeRhizobium sp. NGR234, and phenotypes of a site-directed mutant  Academic Article
• Molecular cytogenetic analysis of a series of 23 DiGeorge syndrome patients by fluorescence in situ hybridization.  Academic Article
• Molecular diagnosis of Smith-Lemli-Opitz syndrome (SLOS) in a fetus with renal agenesis.  Conference Paper
• Molecular genetic analysis of severe protein C deficiency.  Academic Article
• Molecular genetic study of three patients with the 22q11 deletion syndrome.  Conference Paper
• Molecular organization and haplotype analysis of centromeric DNA from human chromosome 17: Implications for linkage in neurofibromatosis  Academic Article
• Molecular, biochemical and clinical aspects of Smith-Lemli-Opitz syndrome in Cuban patients.  Conference Paper
• Monocarboxylate transporters and mitochondrial creatine kinase protein content in McArdle disease  Academic Article
• Monosomy 1p36: deletions and rearrangements.  Conference Paper
• Monosomy 1pter syndrome: A case report.  Conference Paper
• Monosomy for the most telomeric, gene-rich region of the short arm of human chromosome 16 causes minimal phenotypic effects  Academic Article
• Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis  Academic Article
• Mosaic sex chromosome anomalies in a normal appearing male newborn: prenatal and postnatal molecular cytogenetics studies.  Conference Paper
• Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation  Academic Article
• Mucolipidosis II. The clinical, radiological and biochemical features in three cases  Academic Article
• Multidisciplinary study of in utero presentation of fetal GM1 gangliosidosis at 17 weeks gestation.  Conference Paper
• Multigene panels in prostate cancer risk assessment: a systematic review  Academic Article
• Multilocus loss of DNA methylation in individuals with mutations in the histone H3 Lysine 4 Demethylase KDM5C  Academic Article
• Multiprobe fluorescence in situ hybridisation (FISH) telomere assay detects cryptic chromosome rearrangements in the alpha thalassaemia mental retardation (ATR-16) syndrome.  Conference Paper
• Murine Hn1 on Chromosome 11 is expressed in hemopoietic and brain tissues  Academic Article
• Murine β-galactosidase stability is not dependent on temperature or protective protein/cathepsin A  Academic Article
• Mutant huntingtin causes defective actin remodeling during stress: defining a new role for transglutaminase 2 in neurodegenerative disease  Academic Article
• Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism  Academic Article
• Mutations in EBF3 disturb transcriptional profiles and cause intellectual disability, ataxia, and facial dysmorphism  Conference Paper
• Mutations in POLRMT impair mitochondrial transcription and are associated with a spectrum of mitochondrial disease presentations  Conference Paper
• Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome  Academic Article
• Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia  Academic Article
• Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation  Academic Article
• Mutations inSYNGAP1Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency  Academic Article
• NCAM1-TTC12-ANKK1-DRD2 variants and smoking motives as novel intermediate phenotypes for nicotine dependence  Conference Paper
• NEPHRO-BLASTOMA AND THE 11P- CHROMOSOME  Conference Paper
• NEW INVITRO VARIANT OF METHYLMALONIC ACIDEMIA (MM-EMIA)  Conference Paper
• NEW METHOD FOR NON-SELECTIVE ISOLATION OF HYBRIDS BETWEEN HUMAN DIPLOID FIBROBLASTS  Conference Paper
• Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases  Academic Article
• Natural history of the organic acidurias? A call for information  Academic Article
• Neurodevelopment of Children Exposed In Utero to Venlafaxine: Preliminary Results  Conference Paper
• Neurodevelopment of Children Exposed In Utero to Venlafaxine; Children Exposed to SSRIs and Non-teratogens as Comparison Groups  Conference Paper
• Neurodevelopment of children exposed to antidepressant medications during gestation: A critical overview and meta-analysis.  Conference Paper
• Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact  Academic Article
• Neuronal pentraxin 1 depletion delays neurodegeneration and extends life in Sandhoff disease mice  Academic Article
• New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome  Academic Article
• No longer just an intermediate: Cystathionine protects against endoplasmic reticulum stress induced lipid accumulation and apoptotic cell death  Conference Paper
• Non-invasive prenatal diagnosis of beta-thalassemia by mass spectrometric analysis of fetal DNA in maternal plasma.  Conference Paper
• Non-random association between alleles detected at D4S95 and D4S98 and the Huntington's disease gene.  Academic Article
• Novel (cys152>arg) missense mutation in an Arab patient with Canavan disease  Academic Article
• Novel GNE Mutations in Autosomal Recessive Hereditary Inclusion Body Myopathy Patients  Academic Article
• Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660)  Academic Article
• Novel and recurrent EMD mutations in patients with Emery–Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot  Academic Article
• Novel craniofacial and extracraniofacial findings in a case of Treacher Collins syndrome with a pathogenic mutation and a missense variant in the TCOF1 gene  Academic Article
• Novel seventeen basepair deletion in exon 3 of the β-globin gene  Academic Article
• Nutritional co-therapy with 1,3-butanediol and multi-ingredient antioxidants enhances autophagic clearance in Pompe disease  Academic Article
• OCULAR MANIFESTATIONS OF JACOBSEN SYNDROME (11Q-)  Conference Paper
• OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome  Academic Article
• OTUD7A regulates neurodevelopmental phenotypes in the 15q13.3 microdeletion syndrome  Conference Paper
• Odds-ratio regression models for testing joint transmission of candidate genes for tuberculosis.  Conference Paper
• Oligogenic segregation analysis of obesity-related traits in hypertensive families from a French-Canadian isolate.  Conference Paper
• Organization and genomic distribution of ?82H? alpha satellite DNA  Academic Article
• Orphanet Journal of Rare Diseases  Journal
• Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review  Academic Article
• Ovarian Failure Related to Eukaryotic Initiation Factor 2B Mutations  Academic Article
• Oxidative stress and Nrf2 signaling in McArdle disease  Academic Article
• PATHOLOGICAL EXAMINATION OF THE LUNG IN A FABRY PATIENT ON ENZYME REPLACEMENT THERAPY  Conference Paper
• PROGRAM DESCRIPTION  Academic Article
• PSEUDO ARYLSULFATASE-A DEFICIENCY DISORDER - A GENETIC AND BIOCHEMICAL EXPLANATION  Conference Paper
• Pallister-Killian syndrome due to a novel chromosome abnormality: A case of 12p intrachromosomal triplication.  Conference Paper
• Paraspinal ganglioneuroma in the proband of a large family with mild cutaneous manifestations of NF1, carrying a deepNF1intronic mutation  Academic Article
• Parents’ Understanding of Genetics and Heritability  Academic Article
• Partial and complete trisomy 9: Delineation of a trisomy 9 syndrome  Academic Article
• Partial monosomy 1q43 and partial trisomy 20q13.2: a case report  Academic Article
• Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies  Academic Article
• Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society  Academic Article
• Penetrance of Polygenic Obesity Susceptibility Loci across the Body Mass Index Distribution  Academic Article
• Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression  Academic Article
• Perceptions About Genetic Testing for the Susceptibility to Alcohol Dependence and Other Multifactorial Diseases  Academic Article
• Performance of the eHealth decision support tool, MIPOGG, for recognising children with Li-Fraumeni, DICER1, Constitutional mismatch repair deficiency and Gorlin syndromes  Academic Article
• Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease  Academic Article
• Personalized medicine - the promised land: are we there yet?  Academic Article
• Phalangeal hypoplasia, mental retardation, agenesis of the corpus callosum, brainstem abnormalities and ectopic grey matter: unique case or newly recognized syndrome?  Academic Article
• PhenCode: connecting ENCODE data with mutations and phenotype  Academic Article
• Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder  Academic Article
• Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder  Academic Article
• Phylogeographic genomics of mitochondrial DNA: Highly-resolved patterns of intraspecific evolution and a multi-species, microarray-based DNA sequencing strategy for biodiversity studies  Academic Article
• Physical Mapping of 30 CA Repeats on Human Chromosome 22  Academic Article
• Physical mapping by FISH of the DiGeorge critical region (DGCR): involvement of the region in familial cases.  Academic Article
• PlexinA polymorphisms mediate the developmental trajectory of human corpus callosum microstructure  Academic Article
• Polygenic determinants of severe hypertriglyceridemia  Academic Article
• Polyploidy in Amphibia  Academic Article
• Practice guidelines for BRCA1/2 tumour testing in ovarian cancer  Academic Article
• Predictive power of individual genetic and environmental factor scores  Academic Article
• Preface  Academic Article
• Preferences for prenatal tests for Down syndrome: an international comparison of the views of pregnant women and health professionals  Academic Article
• Pregnancy outcome and cognitive development of children exposed in utero to cyclosporine following maternal renal transplant  Conference Paper
• Prenatal detection and perinatal management of a giant cervical teratoma.  Conference Paper
• Prenatal diagnosis by FISH of a 22q11 deletion in two families.  Academic Article
• Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders  Academic Article
• Prenatal level II mosaic marker representing true fetal mosaicism: What is the lesson?  Conference Paper
• Prenatal screening for aneuploidy using maternal blood spots on filter paper in the first and second trimester.  Conference Paper
• Prenatally detected triploidy/trisomy 7 mosaic.  Conference Paper
• Prevalence of meconium ileus marks the severity of mutations of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene  Academic Article
• Proceed with care: direct predictive testing for Huntington disease.  Academic Article
• Protein C deficiency and thromboembolism: recurrent mutation at Arg 306 in the protein C gene  Academic Article
• Psychological consequences and predictors of adverse events in the first 5 years after predictive testing for Huntington's disease  Academic Article
• Psychosocial issues of burden for genetic conditions in the Chinese population.  Conference Paper
• Public Health Genomics  Journal
• Quality and content of abstracts in papers reporting about drug exposures during pregnancy  Academic Article
• RAPID IMMUNOCYTOLOGICAL SCREENING FOR ADULT CARRIERS OF THE SOUTHEAST-ASIAN ALPHA-THALASSEMIA-1 DELETION (SEA)  Conference Paper
• RARE-Bestpractices: a platform for sharing best practices for the management of rare diseases  Conference Paper
• RESIDUAL ARYLSULFATASE-A ACTIVITY IN FIBROBLASTS FROM PATIENTS WITH METACHROMATIC LEUKODYSTROPHY  Conference Paper
• RESVERATROL FOR THE CORRECTION OF MITOCHONDRIAL DISORDERS  Conference Paper
• Rank-based genome-wide analysis reveals the association of Ryanodine receptor-2 gene variants with childhood asthma among human populations  Academic Article
• Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities  Academic Article
• Rare Deletions at the Neurexin 3 Locus in Autism Spectrum Disorder  Academic Article
• Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures  Academic Article
• Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder  Academic Article
• Recombination, mutation, or constitutive expression at a Gm locus and familial hypergammaglobulinemia.  Academic Article
• Reconstitution of Wild-Type or Mutant Telomerase Activity in Telomerase-Negative Immortal Human Cells  Academic Article
• Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity  Academic Article
• Regional localization of 18 human X-linked DNA sequences  Academic Article
• Reply to Sharpe  Academic Article
• Repopulation of ?0 cells with mitochondria from a patient with a mitochondrial DNA point mutation in tRNAGly results in respiratory chain dysfunction  Academic Article
• Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction  Academic Article
• Response to Newman et al.  Academic Article
• Return of Genomic Results to Research Participants: The Floor, the Ceiling, and the Choices In Between  Academic Article
• Return of genetic and genomic research findings: experience of a pediatric biorepository  Academic Article
• Risk Reversals in Predictive Testing for Huntington Disease  Academic Article
• RpoS regulation of gene expression during exponential growth of Escherichia coli K12  Academic Article
• SECRETION OF HUMAN FACTOR-IX THROUGH MICRO-ENCAPSULATED RECOMBINANT FIBROBLASTS  Conference Paper
• SHANK1 Deletions in Males with Autism Spectrum Disorder  Academic Article
• SHORT-TERM BIOLOGICAL VARIANCE OF PHE IN PATIENTS WITH PHENYLKETONURIA  Conference Paper
• SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations  Academic Article
• SNPs in the neural cell adhesion molecule 1 gene (NCAM1) may be associated with human neural tube defects  Academic Article
• SOLID ORGAN 'TRANSPLANTATION IN MITOCHONDRIAL DISEASE: PROCEED WITH CAUTION  Conference Paper
• SONOGRAPHIC FINDINGS IN HOMOZYGOUS ALPHA-DEGREES THALASSEMIA PRIOR TO THE ONSET OF HYDROPS  Conference Paper
• SPECTRUM OF ANOMALIES IN THE MECKEL SYNDROME  Conference Paper
• SPECTRUM OF BETA-THALASSEMIA MUTATIONS IN GREEK-CANADIANS - IDENTIFICATION OF A NOVEL CIRCLE-THALASSEMIA MUTATION, FRAMESHIFT CODONS 9/10(+T)  Conference Paper
• SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females  Academic Article
• ST3GAL3 Mutations Impair the Development of Higher Cognitive Functions  Academic Article
• Screening for HHH syndrome in northern Saskatchewan  Conference Paper
• Screening of aneuploldy using maternal blood spots in the first and second trimester  Conference Paper
• Selecting a BRCA risk assessment model for use in a familial cancer clinic  Academic Article
• Sensitive and Efficient Detection of RB1 Gene Mutations Enhances Care for Families with Retinoblastoma  Academic Article
• Sequence overlap between autosomal and sex-linked probes on the Illumina HumanMethylation27 microarray  Academic Article
• Serum cholesterol and suicidality in Smith-Lemli-Opitz syndrome heterozygotes  Conference Paper
• Severe hemihypotrophy in a female infant with mosaic Turner syndrome: a variant of Russell???Silver syndrome?  Academic Article
• Severe intellectual disability and autistic features associated with microduplication 2q23.1  Academic Article
• Severe knee hyperextension in a fetus with trisomy 21: Association or coincidence?  Conference Paper
• Severe neurocognitive and growth disorders due to variation in THOC2 , an essential component of nuclear mRNA export machinery  Academic Article
• Severe prenatal growth retardation, dysmorphic features, pigmentary retinopathy, and generalized absence of subcutaneous tissues: a new entity?  Academic Article
• Sialidase-mediated depletion of GM2 ganglioside in Tay-Sachs neuroglia cells  Academic Article
• Site-directed mutagenesis and DNA sequence of pckA of Rhizobium NGR234, encoding phosphoenolpyruvate carboxykinase: gluconeogenesis and host-dependent symbiotic phenotype  Academic Article
• Six new patients with malonyl-CoA decarboxylase (MCD) deficiency: expanding the phenotypic heterogeneity.  Conference Paper
• Six novel mutations in the myophosphorylase gene in patients with McArdle disease and a family with pseudo-dominant inheritance pattern  Academic Article
• Sjogren-Larsson syndrome: Motor performance and everyday functioning  Conference Paper
• Smith-Lemli-Opitz syndrome: carrier frequency and spectrum of DHCR7 mutations in Canada  Academic Article
• Smith–Lemli–Opitz syndrome and other disorders of cholesterol biosynthesis: An introduction  Academic Article
• Smith–Lemli–Opitz syndrome with a classical phenotype, oesophageal achalasia and borderline plasma sterol concentrations  Academic Article
• Smith–Lemli–Opitz syndrome: Phenotype, natural history, and epidemiology  Academic Article
• Sociability in Fruit Flies: Genetic Variation, Heritability and Plasticity  Academic Article
• Solid organ transplantation in primary mitochondrial disease: Proceed with caution  Academic Article
• Somatic cell hybridization studies on the genetic regulation and allelic mutations in metachromatic leukodystrophy  Academic Article
• Spinocerebellar Ataxia Type 1 protein Ataxin-1 is signaled to DNA damage by ataxia-telangiectasia mutated kinase  Academic Article
• Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia  Academic Article
• Staying informed and recontacting patients about research advances: a study of patient attitudes.  Academic Article
• Structural Variation of Chromosomes in Autism Spectrum Disorder  Academic Article
• Structure and regulation of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in killifish: A comparative genomics approach  Academic Article
• Sub-lethal effects of calcium dinonylnaphthalenesulfonate on Western clawed frog embryos  Academic Article
• Supradiaphragmatic accessory lobe of the liver in BB Wistar rats  Academic Article
• Symmetrical upper limb peromelia and lower limb phocomelia associated with a de novo apparently balanced reciprocal translocation: 46,XX,t(2;12)(p25.1;q24.1)  Academic Article
• THE EXTRA CHROMOSOME IN CAT EYE SYNDROME (CES) IS DERIVED FROM CHROMOSOME-22 - EVIDENCE FROM INSITU HYBRIDIZATION OF A CHROMOSOME-22 SPECIFIC DNA PROBE  Conference Paper
• THE GENE FOR NF1 (VON RECKLINGHAUSEN NEUROFIBROMATOSIS) IS ON CHROMOSOME-17 NEAR THE CENTROMERE  Conference Paper
• THE SCOTTISH-CHILDRENS-TUMOUR-REGISTER - CLINICAL, PATHOLOGICAL AND CYTOGENETIC CONSIDERATIONS  Conference Paper
• TOWARDS A LINKAGE MAP OF CHROMOSOME-20  Conference Paper
• TRANSIENT NEONATAL HYPERPARATHYROIDISM: A PRESENTING FEATURE OF SIALIDOSIS TYPE II  Conference Paper
• TRINUCLEOTIDE REPEAT POLYMORPHISM IN THE ANTITHROMBIN-III GENE - ALLELE FREQUENCY DATA FOR 3 POPULATION GROUPS  Conference Paper
• Targeting TEAD/YAP-transcription-dependent necrosis, TRIAD, ameliorates Huntington’s disease pathology  Academic Article
• Telomere maintenance by telomerase and by recombination can coexist in human cells  Academic Article
• Telomeric FISH analysis: the use of telomeric probes for the characterisation of visible chromosome rearrangements using fluorescence in situ hybridization.  Conference Paper
• Temtamy Preaxial Brachydactyly Syndrome Is Caused by Loss-of-Function Mutations in Chondroitin Synthase 1, a Potential Target of BMP Signaling  Academic Article
• Ten new patients with malonyl-coenzyme a decarboxylase (MCD) deficiency  Conference Paper
• Testing for maternal and fetal effects in autism.  Conference Paper
• Testing personalized medicine: patient and physician expectations of next-generation genomic sequencing in late-stage cancer care  Academic Article
• Thalassemia in Sri Lanka: a progress report  Academic Article
• The Duty to Recontact: Attitudes of Genetics Service Providers  Academic Article
• The Duty to Recontact: Benefit and Harm  Academic Article
• The Gene Encoding p120cas, a Novel Catenin, Localizes on Human Chromosome 11q11 (CTNND) and Mouse Chromosome 2 (Catns)  Academic Article
• The GoodHope Ehlers Danlos Syndrome Clinic: development and implementation of the first interdisciplinary program for multi-system issues in connective tissue disorders at the Toronto General Hospital  Academic Article
• The Sensitivity of Variance Component Estimates to Underreporting: Method and Application to Substance Abuse Data  Academic Article
• The Smith-Lemli-Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology  Academic Article
• The Telomere Lengthening Mechanism in Telomerase-Negative Immortal Human Cells Does Not Involve the Telomerase RNA Subunit  Academic Article
• The association of polythelia with segmentation defects of the vertebrae  Academic Article
• The association of previously reported polymorphisms for microvascular complications in a meta-analysis of diabetic retinopathy  Academic Article
• The broader autism phenotype: Defining genetically informative dimensions.  Conference Paper
• The current state of cancer family history collection tools in primary care: a systematic review  Academic Article
• The duty to recontact: attitudes of genetics service providers.  Conference Paper
• The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations  Academic Article
• The genotypic and phenotypic spectrum of MTO1 deficiency  Academic Article
• The gut content microbiome of wild-caught rainbow darter is altered during laboratory acclimation  Academic Article
• The human arylsulfatase-C isoenzymes: two distinct genes that escape from X inactivation.  Academic Article
• The human telomerase catalytic subunit hTERT: organization of the gene and characterization of the promoter  Academic Article
• The huntingtin N17 domain is a multifunctional CRM1 and Ran-dependent nuclear and cilial export signal  Academic Article
• The impact of inaccurate ages on a potential association between tuberculosis and NRAMP1.  Conference Paper
• The incidence of Smith-Lemli-Opitz Syndrome (SLOS) in Ontario, Canada.  Conference Paper
• The oro-facial-digital syndrome  Academic Article
• The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP  Academic Article
• The risks of breast and ovarian cancer associated with the Ashkenazi Jewish founder allele BRCA2 6174delT  Academic Article
• The role of clinical response to treatment in determining pathogenicity of genomic variants  Academic Article
• The role of microsatellite instability in patients with gastric cancer: A case-control study in high-frequent area.  Conference Paper
• The therapeutic potential of pharmacological chaperones and proteosomal inhibitors, Celastrol and MG132 in the treatment of sialidosis  Academic Article
• The use of objective structured clinical exams (OSCES) assess genetic counseling and communication skills of pediatric residents.  Conference Paper
• Therapeutic potential of exosomes in Pompe disease: Treatment of tomorrow, today for lysosomal diseases  Conference Paper
• Thiamine responsive megaloblastic anemia presenting as microcytic anaemia: an unusual case with novel mutations.  Conference Paper
• Three novel SALL1 mutations extend the mutational spectrum in Townes-Brocks syndrome  Academic Article
• Tissue-specific expression of human arylsulfatase-C isozymes and steroid sulfatase.  Academic Article
• Transcriptional induction of human lysosomal sialidase promoter as a potential strategy for the treatment of Tay Sachs disease  Conference Paper
• Trisomy 21 and Ebstein Anomaly.  Conference Paper
• Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia  Academic Article
• Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia  Academic Article
• Twin Research and Human Genetics  Journal
• Two different missense mutations at Arg 178 of the protein C (PROC) gene causing recurrent venous thrombosis  Academic Article
• Understanding the population structure of North American patients with cystic fibrosis  Academic Article
• Universal Newborn Screening for Hb H Disease in California  Academic Article
• Use of dexamethasone in acute rhabdomyolysis in Lipin-1 deficiency  Conference Paper
• Use of immunosuppressive agents in gene therapy for prolonged delivery of recombinant products.  Conference Paper
• Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes  Academic Article
• Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care  Academic Article
• Utrophin A is essential in mediating the functional adaptations of mdx mouse muscle following chronic AMPK activation  Academic Article
• VARIATION IN DIAGNOSTIC CARE AND DISEASE CLASSIFICATION STRATEGIES FOR PAH DEFICIENCY: UPDATED FINDINGS FROM THE CANADIAN INHERITED METABOLIC DISEASES RESEARCH NETWORK (CIMDRN)  Conference Paper
• VISUALIZATION OF NUCLEOLAR ORGANIZER REGIONS IN SLOTHS (BRADYPUS-VARIEGATUS AND SCAEOPUS-TORQUATUS)  Academic Article
• Variability in the clinical management of fatty acid oxidation disorders: results of a survey of Canadian metabolic physicians  Academic Article
• Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia  Academic Article
• Variants of the SFTPA1 and SFTPA2 genes and susceptibility to tuberculosis in Ethiopia  Academic Article
• Voluntary and electrically evoked strength characteristics of obese and nonobese preadolescent boys.  Academic Article
• WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations  Academic Article
• Weight correction and ethnic differences for first trimester Down syndrome biochemical markers.  Conference Paper
• Weight gain and the risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers  Academic Article
• Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study  Academic Article
• Whole-exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum  Academic Article
• Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families  Academic Article
• Whole-genome array-CGH for detection of submicroscopic chromosomal imbalances in children with mental retardation  Academic Article
• Widening the lens of actionability: A qualitative study of primary care providers’ views and experiences of managing secondary genomic findings  Academic Article
• eP160: Bilateral oophorectomy and the risk of breast cancer in women with a pathogenic variant in BRCA1: A reappraisal  Conference Paper