Genetics & Heredity - McMaster Experts

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"Should I Let Them Know I Have This?": Multifaceted Genetic Discrimination and Limited Awareness of Legal Protections among Individuals with Hereditary Cancer Syndromes. Journal Articles
100. Effects of novel β-glucocerebrosidase enhancers and pharmacological chaperones on protein stability/dynamics probed by hydrogen–deuterium exchange mass spectrometry Journal Articles
15q11.2 microdeletion (BP1–BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: A series of 52 patients Journal Articles
2 DIFFERENT MISSENSE MUTATIONS AT ARG 178 OF THE PROTEIN-C (PROC) GENE CAUSING RECURRENT VENOUS THROMBOSIS Journal Articles
242 Breakpoints in the 200-kb deletion-prone P20 region of the DMD gene are widely spread Journal Articles
4-Phenylbutyric acid mitigates ER stress-induced neurodegeneration in the spinal cords of a GM2 gangliosidosis mouse model. Journal Articles
45,X/46,XY mosaicism confined to amnion in a stillborn 46,XY male with IUGR. Conferences
46,XX/46,XX,r (2)(p25q37) mosaicism: clinical and cytogenetic studies. Journal Articles
67. Immune cell phenotypes and cytokine response in a mouse model of sialidase deficiency Conferences
68. Impact of tumor necrosis factor-alpha deletion on astrolgliosis and microgliosis in the CNS of Sandhoff mice Conferences
69. The therapeutic potential of small pharmacological molecules in the treatment of Sialidosis Journal Articles
DHCR7 mutations and genotype–phenotype correlation in 37 Polish patients with Smith–Lemli–Opitz syndrome Journal Articles
GRIN2Bencephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects Journal Articles
Kenny-Caffey syndrome Journal Articles
A 9 nt deletion in mt DNA in 2 siblings with pervasive developmental disorder (PDD) and mitochondrial myopathy. Conferences
A CGG-Repeat Expansion Mutation inZNF713Causes FRA7A: Association with Autistic Spectrum Disorder in two Families Journal Articles
A COMBINATION OF TRADITIONAL CYTOGENETIC TECHNIQUES AND INSITU HYBRIDIZATION HAS ALLOWED ELUCIDATION OF THE KARYOTYPE IN 2 YOUNG BOYS WITH ABNORMAL SEX-CHROMOSOME COMPLEMENTS Conferences
A DNA marker closely linked to the factor IX (haemophilia B) gene Journal Articles
A FISH study of chromosome fusion in the ICF syndrome: involvement of paracentric heterochromatin but not of the centromeres themselves. Journal Articles
A GENETIC-LINKAGE STUDY OF HUNTINGTONS-CHOREA Conferences
A Genome-wide Association Study Identifies Risk Alleles in Plasminogen and P4HA2 Associated with Giant Cell Arteritis Journal Articles
A Highly Unstable Recent Mutation in Human mtDNA Journal Articles
A LINKAGE STUDY USING DNA MARKERS LOCALIZES THE GENE FOR X-LINKED DOMINANT CHARCOT-MARIE-TOOTH DISEASE AT XQ13-XQ22 Conferences
A LOW-COPY, CHROMOSOME-SPECIFIC ALPHA SATELLITE DOMAIN LOCATED IN THE PERICENTROMERIC REGION OF HUMAN CHROMOSOME-14 Conferences
A Large-Scale Genetic Analysis Reveals a Strong Contribution of the HLA Class II Region to Giant Cell Arteritis Susceptibility Journal Articles
A Multiplex Human Syndrome Implicates a Key Role for Intestinal Cell Kinase in Development of Central Nervous, Skeletal, and Endocrine Systems Journal Articles
A Multiplex Human Syndrome Implicates a Key Role for Intestinal Cell Kinase in Development of Central Nervous, Skeletal, and Endocrine Systems Journal Articles
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 Conferences
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation Journal Articles
A SATELLITED CHROMOSOME-2 Conferences
A biallelic pathogenic variant in the OGDH gene results in a neurological disorder with features of a mitochondrial disease Journal Articles
A case of 46,XX,r(X) (p1q1) diagnosed by in situ hybridization Journal Articles
A common X-linked inborn error of carnitine biosynthesis may be a risk factor for non-dysmorphic autism Conferences
A complete deletion of the factor IX gene and new TaqI variant in a hemophilia B kindred Journal Articles
A comprehensive genomic reporting structure for communicating all clinically significant primary and secondary findings Journal Articles
A frameshift mitochondrial complex I gene mutation in a patient with dystonia and cataracts: is the mutation pathogenic? Journal Articles
A genome assembly-integrated dog 1 Mb BAC microarray: a cytogenetic resource for canine cancer studies and comparative genomic analysis Journal Articles
A genome-wide association study of sporadic ALS in a homogenous Irish population Journal Articles
A genome-wide scan for common alleles affecting risk for autism Journal Articles
A huntingtin-mediated fast stress response halting endosomal trafficking is defective in Huntington's disease Journal Articles
A large-scale candidate gene association study of age at menarche and age at natural menopause Journal Articles
A model for the genetic etiology of autism spectrum disorders involving alleles at maternal and fetal susceptibility loci. Conferences
A model for the return and referral of all clinically significant secondary findings of genomic sequencing Journal Articles
A mutation in the TMEM65 gene results in mitochondrial myopathy with severe neurological manifestations Journal Articles
A mutation of the myosin heavy chain-7 tail domain results in an autosomal dominant hyaline body myopathy. Conferences
A mutational chip to detect TP53, CDKN2A and FAT1 mutations in circulating cell free-DNA of head and neck squamous cell carcinoma patients:a pilot study Conferences
A new method for the purification of bioviable NEU1 sialidase for enzyme replacement therapy for sialidosis Journal Articles
A new syndrome of ankyloglossia and ulnar ray defects in a Newfoundland kindred Journal Articles
A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder Journal Articles
A novel copy number variant in the murine Cdh23 gene gives rise to profound deafness and vestibular dysfunction Journal Articles
A novel mutation in the PYGM gene in a family with pseudo-dominant transmission of McArdle disease Journal Articles
A pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsy Journal Articles
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 Conferences
A point mutation in the neu1 promoter recruits an ectopic repressor, Nkx3.2 and results in a mouse model of sialidase deficiency Journal Articles
A polygenic basis for four classical Fredrickson hyperlipoproteinemia phenotypes that are characterized by hypertriglyceridemia Journal Articles
A principal component regression based genome wide analysis approach reveals the presence of a novel QTL on BTA7 for MAP resistance in holstein cattle Journal Articles
A proposed mechanism for intermediate atresia ani (AA), based on a porcine case of AA and hypospadias Journal Articles
A provisionally unique syndrome with features including "molar tooth" sign and "femoral hypoplasia". Journal Articles
A randomized.controlled trial (RCT) to evaluate the use of misoprostol for second trimester pregnancy termination associated with fetal malformation Conferences
A rapid and simple electrophoretic method for the detection of mutations involving small insertion or deletion: application to ?-thalassemia Journal Articles
A rare subtelomeric deletion syndrome: Wolf Hirschhorn syndrome. Journal Articles
A significant response to neoadjuvant chemotherapy in BRCA1/2 related breast cancer Journal Articles
A study to determine the genetic basis of uterine papillary serous adenocarcinoma. Conferences
A target based approach identifies genomic predictors of breast cancer patient response to chemotherapy Journal Articles
A trans-ancestral meta-analysis of genome-wide association studies reveals loci associated with childhood obesity Journal Articles
ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies Journal Articles
ADULT ONSET POLYCYSTIC KIDNEY-DISEASE (APKD) - CLINICAL ONSET, PROGNOSIS AND ULTRASONOGRAPHIC DETECTION Conferences
ALLOGENEIC SOMATIC GENE-THERAPY - CORRECTION OF GROWTH-HORMONE DEFICIENCY IN DWARF MICE WITH MICRO-ENCAPSULATED NON-AUTOLOGOUS MYOBLASTS Conferences
ALPHA-SATELLITE ON CHROMOSOME-7 - MOLECULAR-ORGANIZATION, DNA POLYMORPHISMS, AND CENTROMERIC LOCALIZATION Conferences
AN ABNORMAL METACENTRIC CHROMOSOME IN AN INFANT WITH LEPRECHAUNISM Journal Articles
AN ETIOLOGICAL STUDY OF ISOCHROMOSOME-X TURNERS SYNDROME Journal Articles
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 Conferences
ANTI-ZETA WILL RELIABLY DETECT (SEA) DOUBLE ALPHA-DELETIONS Conferences
AP-2α knockout mice exhibit optic cup patterning defects and failure of optic stalk morphogenesis Journal Articles
ARYLSULFATASE-C ISOZYMES IN HUMAN-TISSUES Conferences
ASSIGNMENT AND REGIONAL LOCALIZATION OF A SERIES OF X-CHROMOSOME SPECIFIC DNA PROBES Conferences
ASSIGNMENT AND REGIONAL LOCALIZATION OF A SERIES OF X-CHROMOSOME SPECIFIC DNA PROBES Conferences
Abdominal Aortic Aneurysm Is Associated with a Variant in Low-Density Lipoprotein Receptor-Related Protein 1 Journal Articles
Aberrant Drp1-mediated mitochondrial division presents in humans with variable outcomes Journal Articles
Abnormal fatty acid metabolism in childhood spinal muscular atrophy (SMA) may predispose to perioperative risks for mitochondrial decompensation and liver failure Conferences
Absence of a Paternally Inherited FOXP2 Gene in Developmental Verbal Dyspraxia Journal Articles
Accelerated decline in lung function in cigarette smokers is associated with TP53/MDM2 polymorphisms Journal Articles
Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel Journal Articles
Aerobic training as an adjunctive therapy to enzyme replacement in Pompe disease Journal Articles
Agnathia-otocephaly complex in a fetus with maternal use of topical 1% salicylate Journal Articles
Allele frequency data for VNTR locus D17S79: Identification of an internalHaeIII polymorphism in the black population Journal Articles
Allelic Stability of VNTR Locus 3’αHVR: Linkage Disequilibrium with the Common α-Thalassaemia-1-Deletion of South-East Asia (--SEA/) Journal Articles
Alterations of erythrocyte ghost protein phosphorylation in the duchenne and myotonic muscular dystrophies Journal Articles
American Journal of Human Genetics Journal
American Journal of Medical Genetics - Seminars in Medical Genetics Journal
An adjacent-2 segregation in a balanced familial t(9;15)(q32;q13) with a large centric segment. Conferences
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids Journal Articles
An efficient strategy for gene mapping using multipoint linkage analysis: exclusion of the multiple endocrine neoplasia 2A (MEN2A) locus from chromosome 13. Journal Articles
An emerging role for Wnt and GSK3 signaling pathways in schizophrenia Journal Articles
An inversion inv(4)(p12-p15.3) in autistic siblings implicates the 4p GABA receptor gene cluster Journal Articles
An uncommon 3.4-Mb interstitial deletion at 3q29 Journal Articles
Analysis of Sus scrofa liver proteome and identification of proteins differentially expressed between genders, and conventional and genetically enhanced lines Journal Articles
Analytical validation of a computational method for pharmacogenetic genotyping from clinical exome sequencing Conferences
Annales de Genetique Journal
Annals of Human Genetics Journal
Anti-ζ Antibody Screening for α-Thalassemia Using Dried Filter Paper Blood Journal Articles
Antioxidant and creatine treatment mitigates common and variant-specific mitochondrial impairments in Leber’s hereditary optic neuropathy patient-derived fibroblasts Journal Articles
Apoptotic Cell Death in Mouse Models of GM2 Gangliosidosis and Observations on Human Tay-Sachs and Sandhoff Diseases Journal Articles
Assessing non-Mendelian inheritance in inherited axonopathies Journal Articles
Assessing the quality of published genetic association studies in meta-analyses: the quality of genetic studies (Q-Genie) tool Journal Articles
Assigning a probability for paternity in apparent cases of mutation. Journal Articles
Assignment of the bovine attractin (ATRN) gene to chromosome 13q21→q22 by in situ hybridization Journal Articles
Association between the -455T>C promoter polymorphism of the APOC3gene and the metabolic syndrome in a multi-ethnic sample Journal Articles
Association between the Lynch syndrome gene MSH2 and breast cancer susceptibility in a Canadian familial cancer registry Journal Articles
Association of autism severity with a monoamine oxidase A functional polymorphism Journal Articles
Associations of NOD2 polymorphisms with Erysipelotrichaceae in stool of in healthy first degree relatives of Crohn’s disease subjects Journal Articles
Attitudes of high school students toward carrier screening and prenatal diagnosis of cystic fibrosis Journal Articles
Autosomal dominant hyaline body myopathy in a Saudi Arabian family is linked to chromosome 14q Conferences
BMC Genetics Journal
BMC Medical Genetics Journal
BRAIN-TARGETED THERAPY FOR MUCOPOLYSACCHARIDOSIS TYPE II DELIVERED BY MICROENCAPSULATED RECOMBINANT CELLS Conferences
BRCA1 germ-line mutation status, distinctive cell cycle proteins expression and outcome after breast cancer. Conferences
BRCA2 Variants and cardiovascular disease in a multi-ethnic study Journal Articles
Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases Journal Articles
Behavior Genetics Journal
Behavioral and hypothalamic transcriptome analyses reveal sex-specific responses to phenanthrene exposure in the fathead minnow (Pimephales promelas) Journal Articles
Behavioral characterization and genetic analysis of the Drosophila melanogaster larval response to light as revealed by a novel individual assay. Journal Articles
Beneficial effects of resveratrol on respiratory chain defects in patients' fibroblasts involve estrogen receptor and estrogen-related receptor alpha signaling Journal Articles
Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay Journal Articles
Biallelic variants inWARS2encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy Journal Articles
Biochemical variability of arylsulphatases‐A,‐B and‐C in cultured fibroblasts from patients with multiple sulphatase deficiency Journal Articles
Biological factor analysis: A three-way (PARAFAC) analysis of twin data. Conferences
Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007–2014) Journal Articles
Birth Defects Research Part A: Clinical and Molecular Teratology Journal
Blepharophimosis-ptosis-epicanthus inversus syndrome plus Journal Articles
Bone marrow involvement and obstructive jaundice in Farber lipogranulomatosis: clinical and autopsy report of a new case Journal Articles
Bovine IFNGR2, IL12RB1, IL12RB2, and IL23R polymorphisms and MAP infection status Journal Articles
Breakpoint localization of the marker chromosome associated with the cat eye syndrome. Journal Articles
Breast and ovarian cancer risk perception after prophylactic salpingo‐oophorectomy due to an inherited mutation in the BRCA1 or BRCA2 gene Journal Articles
Breast cancer gene testing: health care preferences and its costs implications. Conferences
Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data Journal Articles
CARUNCLE ABNORMALITIES IN OCULO-AURICULO-VERTEBRAL SPECTRUM Conferences
CHARACTERIZATION OF THE MATERNAL GENES INVOLVED IN THE SELECTION AGAINST TRISOMY 16 MOUSE FETUSES Conferences
CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions Journal Articles
CHROMOSOMAL FRAGILE SITES IN PATIENTS WITH BIPOLAR AFFECTIVE-DISORDER Conferences
CHROMOSOME-ABNORMALITIES IN STILLBIRTHS AND NEONATAL DEATHS Conferences
CHROMOSOME-SPECIFIC HUMAN ALPHA SATELLITE DNA - ISOLATION AND CHARACTERIZATION OF POLYMORPHIC REPEATED DNA FAMILY FROM CHROMOSOME-17 (D17Z1) Conferences
CK syndrome: another glimpse of neurodevelopmental regulation by cholesterol biosynthesis Conferences
CLONING OF A BALANCED TRANSLOCATION BREAKPOINT MAPPING IN THE DIGEORGE-SYNDROME CRITICAL REGION Conferences
COMPLEMENTATION OF ARYLSULFATASE-A IN SOMATIC-CELL HYBRIDS FORMED BY FUSION BETWEEN FIBROBLASTS FROM PATIENTS WITH METACHROMATIC LEUKODYSTROPHY AND MULTIPLE SULFATASE DEFICIENT DISORDER Conferences
CONGENITAL NEPHROTIC SYNDROME AND BRAIN DYSGENESIS - A NEW SYNDROME Conferences
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 Conferences
Canadian Open Genetics Repository (COGR): a unified clinical genomics database as a community resource for standardising and sharing genetic interpretations Journal Articles
Cancer and Pregnancy Outcomes: An Overview of Existing Knowledge and Preliminary Results of a Multicenter Study Conferences
Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy Journal Articles
Carrier detection of haemophilia A using DNA markers in families with an isolated affected male Journal Articles
Carrier frequency of the Smith-Lemli-Opitz IVS8-1GC mutation of the DHCR7 gene in African Americans. Conferences
Catechol-O-Methyltransferase (COMT) Val 108/158 Metpolymorphism does not modulate executive function in children with ADHD Journal Articles
Causal Effects of Body Mass Index on Cardiometabolic Traits and Events: A Mendelian Randomization Analysis Journal Articles
Causal Effects of Body Mass Index on Cardiometabolic Traits and Events: A Mendelian Randomization Analysis Journal Articles
Centromeric linkage. Journal Articles
Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4) Journal Articles
Cephalometry in adults and children with neurofibromatosis type 1: Implications for the pathogenesis of sphenoid wing dysplasia and the “NF1 facies” Journal Articles
Challenges and practical solutions for managing secondary genomic findings in primary care Journal Articles
Characterization of Three Overlapping Deletions Causing X-Linked Lymphoproliferative Disease Journal Articles
Characterization of clonal chromosome rearrangements using FISH in a cell line derived from ovarian epithelial cancer (EOC). Conferences
Characterization of patients referred for non‐specific intellectual disability testing: the importance of autosomal genes for diagnosis Journal Articles
Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders Journal Articles
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 Journal Articles
Chromosome-specific alpha satellite DNA: Isolation and mapping of a polymorphic alphoid repeat from human chromosome 10 Journal Articles
Chronic AMPK activation evokes the slow, oxidative myogenic program and triggers beneficial adaptations in mdx mouse skeletal muscle Journal Articles
Citizens' perspectives on personalized medicine: a qualitative public deliberation study Journal Articles
Clinical Dysmorphology Journal
Clinical Genetics Journal
Clinical and cytogenetic study on 30 meningioma patients referred to Ghaem Hospital, North East of Iran Conferences
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome Journal Articles
Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. II. Cases without detectable abnormality of the alpha globin complex. Journal Articles
Clinical genetics provider real-time workflow study Journal Articles
Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12 Journal Articles
Clinical utility of genome sequencing in autism: illustrative examples from a genomic research study. Journal Articles
Clinical, enzymatic and molecular characterization of nine new patients with malonyl‐coenzyme A decarboxylase deficiency Journal Articles
Cloning and characterization of alternatively spliced isoforms of Dp71 Journal Articles
Cloning of a balanced translocation breakpoint in the DiGeorge syndrome critical region and isolation of a novel potential adhesion receptor gene in its vicinity Journal Articles
Cloning of the cDNA and Gene Encoding Mouse Lysosomal Sialidase and Correction of Sialidase Deficiency in Human Sialidosis and Mouse SM/J Fibroblasts Journal Articles
Cloning of two genes from the 22q11 deletion syndrome proximal critical region. Conferences
Combination dosing of CLN1 gene therapy extends lifespan in a mouse model of infantile neuronal ceroid lipofuscinosis Conferences
Combination intrathecal and intravenous gene therapy reveals a dominant role for treatment age in determining survival and behavioral outcomes in the mouse model of infantile neuronal ceroid lipofuscinosis Conferences
Combinatorial therapeutic activation with heparin and AICAR stimulates additive effects on utrophin A expression in dystrophic muscles Journal Articles
Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project Journal Articles
Common genetic influences identify cognitive and behavioral networks in the Philadelphia Neurodevelopmental Cohort Conferences
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 Journal Articles
Comparative chromosome painting of pronghorn (Antilocapra americana) and saola (Pseudoryx nghetinhensis) karyotypes with human and dromedary camel probes Journal Articles
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 Journal Articles
Comparison of Urinary Acylglycines and Acylcarnitines as Diagnostic Markers of Medium‐chain Acyl‐CoA Dehydrogenase Deficiency Journal Articles
Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients Journal Articles
Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements Journal Articles
Congenital anomalies of the kidney and the urinary tract: A murmansk county birth registry study Journal Articles
Conserved inserts in the Hsp60 (GroEL) and Hsp70 (DnaK) proteins are essential for cellular growth Journal Articles
Contribution of SHANK3 Mutations to Autism Spectrum Disorder Journal Articles
Contribution of SHANK3 mutations to autism spectrum disorder. Journal Articles
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 Journal Articles
Control of RpoS in global gene expression of Escherichia coli in minimal media Journal Articles
Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders Journal Articles
Copy number variation in metabolic phenotypes Journal Articles
Cornelia de Lange syndrome - Prenatal manifestations: Report of four cases. Conferences
Correction Journal Articles
Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids Journal Articles
Correction to: Cystic fibrosis–related diabetes onset can be predicted using biomarkers measured at birth Journal Articles
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 Journal Articles
Correction: Corrigendum: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations Journal Articles
Correspondence Journal Articles
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] Journal Articles
Counseling and support for regional genetics centers in Great Britain Journal Articles
Covariance of Isometric and Dynamic Arm Contractions: Multivariate Genetic Analysis Journal Articles
Cowden Syndrome–Affected Patients with PTEN Promoter Mutations Demonstrate Abnormal Protein Translation Journal Articles
Cross-Reactive DNA Microarray Probes Lead to False Discovery of Autosomal Sex-Associated DNA Methylation Journal Articles
Cystic fibrosis–related diabetes onset can be predicted using biomarkers measured at birth Journal Articles
Cytogenetic and Genome Research Journal
Cytogenetic comparison of saola (Pseudoryx nghetinhensis) and cattle (Bos taurus) using G- and Q-banding and FISH Journal Articles
DAX1/SHP family of the nuclear hormone receptor superfamily appears predisposed to sequence variability. Conferences
DELIVERY OF A NOVEL GENE-PRODUCT THROUGH MICRO-ENCAPSULATED NON-AUTOLOGOUS CELLS Conferences
DELIVERY OF MOLECULAR-GENETIC SERVICES - CAN FINITE HEALTH-CARE RESOURCES SUPPORT IT Conferences
DENOVO TRANSLOCATIONS IN A SELECTED POPULATION Conferences
DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome Journal Articles
DOES TANDEMLY REPEATED DNA HAVE A BEGINNING AND AN END - MOLECULAR EVOLUTION OF ALPHA SATELLITE DNA Conferences
DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration Journal Articles
Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR) Journal Articles
Data sharing to advance gene‐targeted therapies in rare diseases Journal Articles
De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay Journal Articles
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder Journal Articles
De novo C-terminal truncating mutations in MN1 cause a neurodevelopmental syndrome with distinctive facial features Conferences
De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy Journal Articles
De novo heterozygous HSPD1 variants: A novel mechanism in hypomyelinating leukodystrophy type 4? Conferences
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling Journal Articles
De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features Journal Articles
Decision Analysis of Prenatal Testing for Chromosomal Disorders: What Do the Preferences of Pregnant Women Tell Us? Journal Articles
Decision making factors associated with whether to receive BRCA1/2 genetic test results Conferences
Decreased ventilator use in a 27-year-old man with late-onset Pompe disease within one year of using alglucosidase-alfa Conferences
Deep intronic variant in MVK as a cause for mevalonic aciduria initially presenting as non‐syndromic retinitis pigmentosa Journal Articles
Defining the clinical phenotype of Saul–Wilson syndrome Journal Articles
Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly Journal Articles
Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy? Journal Articles
Deletion of tumor necrosis factor-α ameliorates neurodegeneration in Sandhoff disease mice Journal Articles
Delivery of molecular genetic services within a health care system: time analysis of the clinical workload. The Molecular Genetic Study Group. Journal Articles
Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing Journal Articles
Detection of Severe Nondeletionalα-Thalassemia Mutations Using a Single-Tube Multiplex ARMS Assay Journal Articles
Detection of novel centromeric polymorphisms associated with alpha satellite DNA from human chromosome 11 Journal Articles
Development and Pilot Evaluation of Novel Genetic Educational Materials Designed for an Underserved Patient Population Journal Articles
DiGeorge syndrome and related syndromes associated with 22q11.2 deletions. A review. Journal Articles
Diagnosis and high incidence of hyperornithinemia‐hyperammonemia‐homocitrullinemia (HHH) syndrome in northern Saskatchewan Journal Articles
Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society Journal Articles
Diagnosis of Complex I Deficiency in Patients with Lactic Acidemia Using Skin Fibroblast Cultures Journal Articles
Diagnosis of ‘possible’ mitochondrial disease: an existential crisis Journal Articles
Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions Journal Articles
Diaspora, migration, and the sciences: a new integrated perspective Journal Articles
Differential Y‐chromosome Anatolian Influences on the Greek and Cretan Neolithic Journal Articles
Differential expression and localization of NEU1 and NEU4 in the CNS of mouse models of GM2 gangliosidoses Journal Articles
Difficulties encountered in a randomization trial of CVS versus amniocentesis for prenatal diagnosis Journal Articles
Dinucleotide repeat polymorphism at the D21S65 locus Journal Articles
Direct duplication of 4p14p15.31. Conferences
Disentangling the autism phenotype; a sib-pair analysis. Conferences
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes Journal Articles
Distribution of CFTR mutations in Saguenay-Lac-Saint-Jean: proposal of a panel of mutations for population screening Journal Articles
Distribution of CFTR mutations in Saguenay-Lac-Saint-Jean: proposal of a panel of mutations for population screening (vol 10, pg 201, 2008) Journal Articles
Distribution of CFTR mutations in Saguenay– Lac-Saint-Jean: proposal of a panel of mutations for population screening Journal Articles
Do common in silico tools predict the clinical consequences of amino‐acid substitutions in the CFTR gene? Journal Articles
Does family history predict the age at onset of new breast cancers in BRCA1 and BRCA2 mutation‐positive families? Journal Articles
Double aneuploidy (47,XX,21+-45,X) arising through simultaneous double non-disjunction. Journal Articles
Dramatically Different Phenotypes in Mouse Models of Human Tay-Sachs and Sandhoff Diseases Journal Articles
Duplication 1q32-q44 and multiple congenital anomalies. Conferences
Dysfunctional autophagy impairs muscle regeneration in lysosomal diseases Journal Articles
Dysmorphic facial features, CNS abnormalities, hand malformations, and myocardial cytomegaly in three female fetuses: A familial fetal neurodegenerative disorder? Conferences
Dysmorphic features, multiple congenital anomalies, and preaxial polydactyly of feet: Diabetic embryopathy or a malformation syndrome? Conferences
EBV transformation and cell culturing destabilizes DNA methylation in human lymphoblastoid cell lines Journal Articles
EFFECT OF BONE-MARROW TRANSPLANT OF THE BEHAVIORAL ABNORMALITIES OF A MURINE MODEL OF MUCOPOLYSACCHARIDOSIS TYPE-VII (SLY DISEASE) Conferences
Early intrathecal gene therapy extends lifespan and improves quality of life in a mouse model for infantile neuronal ceroid lipofuscinosis Conferences
Economic Considerations for Health Insurance Coverage of Emerging Genetic Tests Journal Articles
Economic Evaluations Conducted for Assessment of Genetic Testing Technologies: A Systematic Review Journal Articles
Ectomorphic body habitus, microcephaly, developmental delay with characteristic facial phenotype Journal Articles
Effects of Dystrophin Isoforms on Signal Transduction through Neural Retina: Genotype–Phenotype Analysis of Duchenne Muscular Dystrophy Mouse Mutants Journal Articles
Effects of novel beta-glucocerebrosidase enhancers and pharmacological chaperones on protein stability/dynamics probed by hydrogen-deuterium exchange mass spectrometry Conferences
Efficient identification of retinoblastoma gene mutations enhances health care. Conferences
Electrophoretic variants of human 6‐phosphogluconate dehydrogenase: population and family studies and description of a new variant Journal Articles
Endoplasmic reticulum stress derives neurodegeneration in the spinal cord of Sandhoff disease mice Journal Articles
Epigenetics, heritability and longitudinal analysis Journal Articles
Erratum Journal Articles
Erratum to: Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project Journal Articles
Establishment of a transcription map in the 22q11.2 microdeletion syndrome critical region. Conferences
Estimating the clinical cost of drug development for orphan versus non-orphan drugs Journal Articles
European Journal of Human Genetics Journal
European Journal of Medical Genetics Journal
European Reference Networks and Guideline Development and Use: Challenges and Opportunities Journal Articles
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders Journal Articles
Evaluation of ductus venosus blood flow as a screening marker for Down syndrome in the first-trimester Conferences
Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study Journal Articles
Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study Journal Articles
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 Journal Articles
Evidence for synergistic effects of PRNP and ATP7Bmutations in severe neuropsychiatric deterioration Journal Articles
Evidence synthesis and guideline development in genomic medicine: current status and future prospects Journal Articles
Evolution of genetic assessment for BRCA-associated gynaecologic malignancies: a Canadian multisociety roadmap Journal Articles
Evolutionary origins of two tightly linked mutations in arylsulfatase-A pseudodeficiency Journal Articles
Examining the shared genetic architecture of risk tolerance and related behaviors Conferences
Excess of deletions of maternal origin in the DiGeorge/Velo-cardio-facial syndromes. A study of 22 new patients and review of the literature Journal Articles
Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA Journal Articles
Exome Sequencing as a Diagnostic Tool for Pediatric‐Onset Ataxia Journal Articles
Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect Journal Articles
Exosome-mRNA (EXERNA) therapy for Pompe disease Conferences
Exosome-mRNA and exosome-protein therapy for Niemann-Pick disease type C Conferences
Exosome-mRNA therapy for Gaucher disease Conferences
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease Journal Articles
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease Journal Articles
Expanding the Genetic Spectrum of Cytosolic Phosphoenolpyruvate Carboxykinase Deficiency Conferences
Expression of the dystrophin isoform Dp71 in differentiating human fetal myogenic cultures Journal Articles
FACTs Fabry gene therapy clinical trial: Two-year data Conferences
FAMILY STUDIES FOLLOWING CYTOGENETIC ANALYSIS OF EARLY SPONTANEOUS-ABORTIONS Conferences
FISH of kidney touch preparation: a useful approach to chromosome studies of products of conception. Conferences
FULL EXPRESSION OF HUNTERS DISEASE IN A FEMALE WITH AN X-CHROMOSOME DELETION LEADING TO NONRANDOM INACTIVATION Journal Articles
Fabry disease biomarker evaluation during a five-year gene therapy clinical trial Journal Articles
Familial non-syndromic conotruncal defects are not associated with a 22q11 microdeletion Journal Articles
Family system characteristics and psychological adjustment to cancer susceptibility genetic testing: a prospective study Journal Articles
Filipino ?-thalassemia due to a large deletion: identification of the deletion end points and polymerase chain reaction (PCR)-based diagnosis Journal Articles
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 Journal Articles
Fixed-bin analysis for statistical evaluation of continuous distributions of allelic data from VNTR loci, for use in forensic comparisons. Journal Articles
Fumarase deficiency: a rare disorder on the crossroads of clinical and metabolic genetics, neurology and cancer Journal Articles
Functional analysis of CfSnf1 in the development and pathogenicity of anthracnose fungus Colletotrichum fructicola on tea-oil tree Journal Articles
Functional rescue of vitamin C synthesis deficiency in human cells using adenoviral-based expression of murine l-gulono-γ-lactone oxidase Journal Articles
Further localization of X-linked hydrocephalus in the chromosomal region Xq28. Journal Articles
GLUTAMATE DEHYDROGENASE DEFICIENCY DUE TO A GLUDI MUTATION PRESENTING WITH HYPERAMMONEMIA AND GROWTH HORMONE DEFICIENCY WITHOUT HYPERINSULINISM Conferences
Galactitol catabolism in Sinorhizobium meliloti is dependent on a chromosomally encoded sorbitol dehydrogenase and a pSymB-encoded operon necessary for tagatose catabolism Journal Articles
Gaucher disease. III. Substrate specificity of glucocerebrosidase and the use of nonlabeled natural substrates for the investigation of patients. Journal Articles
Gene symbol: ARSA. Journal Articles
Gene symbol: ARSA. Journal Articles
Gene therapy for Fabry disease patients: The importance of efficient biomarker monitoring Conferences
Gene-centric Meta-analysis in 87,736 Individuals of European Ancestry Identifies Multiple Blood-Pressure-Related Loci Journal Articles
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 Journal Articles
Gene-centric meta-analyses of 108 912 individuals confirm known body mass index loci and reveal three novel signals Journal Articles
Gene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disorders Journal Articles
Generation of a genomic tiling array of the human Major Histocompatibility Complex (MHC) and its application for DNA methylation analysis Journal Articles
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 Journal Articles
Genetic Counseling Journal
Genetic Susceptibility to West Nile Virus and Dengue Journal Articles
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 Journal Articles
Genetic analysis of the maternal factors controlling the survival of trisomy 16 mouse fetuses Journal Articles
Genetic and Environmental Influences on the Frequency of Orgasm in Women Journal Articles
Genetic and environmental influences on the frequency of orgasm in women Conferences
Genetic basis of cannabis use: a systematic review Journal Articles
Genetic implications and health consequences following the Chernobyl nuclear accident Journal Articles
Genetic mapping of DNA segments relative to the locus for the fragile-X syndrome at Xq27.3. Journal Articles
Genetic mapping of X-linked albinism-deafness syndrome (ADFN) to Xq26.3-q27.I. Journal Articles
Genetic redundancy is prevalent within the 6.7 Mb Sinorhizobium meliloti genome Journal Articles
Genetic variants at 2q24 are associated with susceptibility to type 2 diabetes Journal Articles
Genetic variants of MARCO are associated with susceptibility to pulmonary tuberculosis in a Gambian population Journal Articles
Genetic variations in the quantitative control of erythrocyte glucose‐6‐phosphate dehydrogenase activity Journal Articles
Genetical studies on a variant of human lactate dehydrogenase (subunit A) Journal Articles
Genetics and Molecular Biology Journal
Genetics in Medicine Journal
Gene‐targeted therapies: Towards equitable development, diagnosis, and access Journal Articles
Genome-wide Association Analysis of Blood-Pressure Traits in African-Ancestry Individuals Reveals Common Associated Genes in African and Non-African Populations Journal Articles
Genome-wide linkage analysis of systolic blood pressure slope using the Genetic Analysis Workshop 13 data sets Journal Articles
Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes Journal Articles
Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations Journal Articles
Genomics Journal
Genotype and phenotype in 12 additional individuals with SATB2‐associated syndrome Journal Articles
Genotype-phenotype correlations in recessive RYR1-related myopathies Journal Articles
Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial. Journal Articles
Germline Mutations and Variants in the Succinate Dehydrogenase Genes in Cowden and Cowden-like Syndromes Journal Articles
Glucose levels controlled with an insulin pump in a patient with combined glycogen storage disease type 1a and type 1 diabetes mellitus Conferences
Good response to chemotherapy (CT) and hormonotherapy (HT) in patients with BRCA1-related breast cancer (BRCA1-BC). Conferences
Guanidinoacetate methyltransferase (GAMT) deficiency: Outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring Journal Articles
Hb FM-Fort Ripley: Confirmation of autosormal dominant inheritance and diagnosis by PCR and direct nucleotide sequencing Journal Articles
HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update Journal Articles
HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server Journal Articles
Health effects of the CPT1A P479L variant: responsible public health policy Journal Articles
Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada Journal Articles
Health-Related Quality-of-Life Assessment of Prenatal Diagnosis: Chorionic Villi Sampling and Amniocentesis Journal Articles
Health-care providers’ perspectives on uncertainty generated by variant forms of newborn screening targets Journal Articles
Hepatic gene expression profiling in zebrafish (Danio rerio) exposed to the fungicide chlorothalonil Journal Articles
Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations Journal Articles
Hereditas Journal
Heritability of Childhood Music Engagement and Associations with Language and Executive Function: Insights from the Adolescent Brain Cognitive Development (ABCD) Study Journal Articles
Heritability of Childhood Music Engagement and Associations with Language and Executive Function: Insights from the Adolescent Brain Cognitive Development (ABCD) Study Journal Articles
Heterozygous NOTCH1 deletion associated with variable congenital heart defects Journal Articles
Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling Journal Articles
Holoprosencephaly, sacral anomalies, and situs ambiguus in an infant with partial monosomy 7q/trisomy 2p and SHH and HLXB9 haploinsufficiency Journal Articles
Host genomics and interactions with environmental exposures are associated with the early-life gut microbiota and atopic diseases in the CHILD Cohort Study Conferences
Human Biology Journal
Human Genetics Journal
Human Genomics Journal
Human Heredity Journal
Human Molecular Genetics Journal
Human Mutation Journal
Hunter disease (mucopolysaccharidosis type II) in a karyotypically normal girl Journal Articles
Huntingtin N17 domain is a reactive oxygen species sensor regulating huntingtin phosphorylation and localization Journal Articles
Huntingtin contains a highly conserved nuclear export signal Journal Articles
Huntingtin has a membrane association signal that can modulate huntingtin aggregation, nuclear entry and toxicity Journal Articles
Huntingtin is a scaffolding protein in the ATM oxidative DNA damage response complex Journal Articles
Hypersensitive PCR, Ancient Human mtDNA, and Contamination Journal Articles
Hypolipidaemia among patients with PMM2-CDG is associated with low circulating PCSK9 levels: a case report followed by observational and experimental studies Journal Articles
ICF SYNDROME (IMMUNODEFICIENCY, CENTROMERIC INSTABILITY AND FACIAL ANOMALIES) - INVESTIGATION OF HETEROCHROMATIN ABNORMALITIES AND REVIEW OF CLINICAL OUTCOME Journal Articles
IDENTIFYING NOVEL PHARMACOLOGICAL CHAPERONES FOR LYSOSOMAL DISEASES USING A HIGH THROUGHPUT APPROACH Conferences
IN VITRO EFFECT OF NB-DGJ ON ARYLSULFATASE-A DEFICIENT FIBROBLASTS Conferences
INACTIVATION PROPERTIES AT THE ARYLSULFATASE-C LOCUS Conferences
INBORN ERRORS OF MUSCLE METABOLISM IMPLICATED IN RISK FOR STATIN-INDUCED MYOPATHY Conferences
INDUCTION OF FRAGILE SITES BY APHIDICOLIN AND METHOTREXATE IN HUMAN EMBRYONIC-CELLS Conferences
INTERSTITIAL DELETION OF CHROMOSOME-7 - A CASE-REPORT AND REVIEW OF THE LITERATURE Journal Articles
Identification and functional analysis ofCITED2 mutations in patients with congenital heart defects Journal Articles
Identification and in-silico characterization of splice-site variants from a large cardiogenetic national registry Journal Articles
Identification of Multiple Genetic Susceptibility Loci in Takayasu Arteritis Journal Articles
Identification of complex DNA polymorphisms based on variable number of tandem repeats (VNTR) and restriction site polymorphism Journal Articles
Identification of interstitial maternal uniparental disomy (UPD) (14) and complete maternal UPD(20) in a cohort of growth retarded patients Journal Articles
Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD) Journal Articles
Identification of nine novelDHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS) Journal Articles
Identification of susceptibility loci for Takayasu arteritis through a large multi-ancestral genome-wide association study Journal Articles
Identification of twelve new arylsulfatase A gene mutations in metachromatic leukodystrophy (MILD) patients. Conferences
Identification of two novel β°-thalassemia mutations in a filipino family: Frameshift codon 67 (− TG) and a β-globin gene deletion Journal Articles
Identifying genetically informative phenotypes in autism spectrum disorders (ASD). Conferences
Identifying gene–gene interactions that are highly associated with four quantitative lipid traits across multiple cohorts Journal Articles
Immunochip Analysis Identifies Multiple Susceptibility Loci for Systemic Sclerosis Journal Articles
Impact of ASGR1 on the hepatic expression and localization of NEU1 Journal Articles
Impact of Maternal Overweight during Pregnancy on the Newborn Gut Microbiome Conferences
Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes Journal Articles
Imputation of missing genotypes: an empirical evaluation of IMPUTE Journal Articles
Incidence of Smith-Lemli-Opitz syndrome in Canada: results of a 36 month surveillance program. Conferences
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 Journal Articles
Individual common variants exert weak effects on the risk for autism spectrum disorders Journal Articles
Induction of the interleukin 6/ signal transducer and activator of transcription pathway in the lungs of mice sub-chronically exposed to mainstream tobacco smoke Journal Articles
Influence of Genetic Ancestry on Human Serum Proteome Conferences
Integrating GWAS of ADHD and continuous ADHD-related traits Conferences
Interactions between maternal genomics and human milk fatty acids are associated with milk microbiota and childhood atopy Conferences
Interspecific comparisons of 35 nuclear receptor superfamily members show the NROB subfamily to be permissive for sequence variability. Conferences
Interstitial 22q11 microdeletion excluding the ADU breakpoint in a patient with DiGeorge syndrome Journal Articles
Intrathecal and intravenous combination gene therapy in the mouse model of infantile neuronal ceroid lipofuscinosis extends lifespan and improves behavioral outcomes in moderately affected mice Conferences
Isolation and Mapping of 45 NotI Linking Clones to Chromosome 22 Journal Articles
Isolation and characterization of polymorphic microsatellite loci in plainfin midshipman fish Journal Articles
Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation Journal Articles
Isolation of a novel gene from the DiGeorge syndrome critical region with homology to Drosophila gdl and to human LAMC1 genes Journal Articles
Isolation of a zinc finger gene consistently deleted in DiGeorge syndrome Journal Articles
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 Journal Articles
Ketogenic therapy as an adjunct to ERT for Pompe disease Conferences
Key terms and definitions in acute porphyrias: Results of an international Delphi consensus led by the European porphyria network Journal Articles
Kinematic Analysis of Drosophila Larval Locomotion in Response to Intermittent Light Pulses Journal Articles
LACK OF EXPANSION OF TRIPLET REPEATS IN THE FMR1, FRAXE, AND FRAXF GENES IN MULTIPLEX MALE FAMILIES WITH AUTISM AND PERVASIVE DEVELOPMENTAL DISORDERS Conferences
LINKAGE OF MULTIPLE ENDOCRINE NEOPLASIA TYPE-2A (MEN2A) AND A NEW DNA MARKER (D10S5) AT 10Q21.1 Conferences
LIVER DYSFUNCTION IMPROVING WITH FRUCTOSE RESTRICTION IN A PATIENT WITH ABNORMAL ISOELECTRIC FOCUSING OF SERUM GLYCOPROTEINS: A CASE REPORT Conferences
Large-Scale Gene-Centric Meta-Analysis across 39 Studies Identifies Type 2 Diabetes Loci Journal Articles
Large-Scale Gene-Centric Meta-Analysis across 39 Studies Identifies Type 2 Diabetes Loci Journal Articles
Large-Scale Gene-Centric Meta-analysis across 32 Studies Identifies Multiple Lipid Loci Journal Articles
Large-scale genetic study of risk tolerance and risky behaviors identifies new loci and reveals shared genetic influences Conferences
Late diagnosis of maternal glutaric acidemia type 1 through expanded newborn screening Conferences
Lentiviral gene therapy for Fabry disease-5 Year end of study analysis for the FACTS trial Journal Articles
Linkage analysis of 26 Canadian breast and breast-ovarian cancer families Journal Articles
Linkage analysis of a DNA marker localized to 20p12 and multiple endocrine neoplasia type 2A. Journal Articles
Linkage analysis of seven kindreds with the X-linked lymphoproliferative syndrome (XLP) confirms that the XLP locus is near DXS42 and DXS37 Journal Articles
Linkage and association analysis in pedigrees from different populations Journal Articles
Live cell imaging and biophotonic methods reveal two types of mutant huntingtin inclusions Journal Articles
Localization and linkage of three polymorphic DNA sequences on human chromosome 20 Journal Articles
Localization by FISH of the 31 Texas nomenclature type I markers to both Q- and R-banded bovine chromosomes Journal Articles
Localization of dystrophin isoform Dp71 to the inner limiting membrane of the retina suggests a unique functional contribution of Dp71 in the retina Journal Articles
Loci Related to Metabolic-Syndrome Pathways Including LEPR,HNF1A, IL6R, and GCKR Associate with Plasma C-Reactive Protein: The Women's Genome Health Study Journal Articles
Loci influencing blood pressure identified using a cardiovascular gene-centric array Journal Articles
Loci influencing blood pressure identified using a cardiovascular gene-centric array Journal Articles
Long-Term Follow-up for Patients with Mitochondrial Carbonic Anhydrase 5A Deficiency Conferences
Long-chain hydroxydicarboxylic aciduria, carnitine depletion and acetaminophen exposure Journal Articles
Long-term correction of sialidase deficiency in cells and mice by recombinant helper-dependent adenovirus-mediated gene transfer. Conferences
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 Journal Articles
Low expression of long-chain acyl-CoA dehydrogenase in human skeletal muscle Journal Articles
Low‐depth sequencing for copy number abnormalities in multiple myeloma supersedes fluorescent in situ hybridization in scope and resolution Journal Articles
MAPPING OF A REPETITIVE 1.8 KB KPNL SEQUENCE TO THE SHORT ARM OF CHROMOSOME-15 Conferences
MG-119 The evolving features of nicolaides-baraitser syndrome – a case report of a twenty-years follow-up Journal Articles
MG-123 Exonic and intronic NRXN1 deletions: Novel genotype-phenotype correlations Journal Articles
MG-143 Age is significantly associated with the bone marrow engraftment in patients with allogeneic stem cell transplantation Journal Articles
MICROENCAPSULATED BRAIN-TARGETED THERAPY FOR METACHROMATIC LEUKODYSTROPHY Conferences
MINOCYCLINE - INDUCED HYPERPIGMENTATION MISDIAGNOSED AS ALKAPTONURIA IN A PATIENT WITH OCHRONOSIS Conferences
MOLECULAR ANALYSIS OF THE SUPERNUMERARY CHROMOSOME IN CAT EYE SYNDROME Conferences
MOLECULAR AND GENETIC-CHARACTERIZATION OF CHROMOSOME-SPECIFIC SUBSETS OF HUMAN ALPHA-SATELLITE DNA Conferences
Macrocephaly, growth failure, translucent skin, renal cysts, coarctation of the aorta, and cholestasis: novel features of a new syndrome – the del17q12 syndrome Journal Articles
Magnetic resonance findings may aid in diagnosis of protracted febrile myalgia syndrome: a retrospective, multicenter study Journal Articles
Mammalian Genome Journal
Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1 Journal Articles
Mapping of the human adenylosuccinate lyase (ADSL) gene to chromosome 22q13.1→q13.2 Journal Articles
Mapping of the metalloproteinase gene matrilysin (MMP7) to human chromosome 11q21→q22 Journal Articles
Maternal History of Oceania from Complete mtDNA Genomes: Contrasting Ancient Diversity with Recent Homogenization Due to the Austronesian Expansion Journal Articles
Maternal Uniparental Isodisomy of Human Chromosome 14 Associated with a Paternal t(13q14q) and Precocious Puberty Journal Articles
Maximum Likelihood Estimation of Genetic, Environmental and Phenotypic Factor Scores Conferences
Measurement of urine porphyrins and porphyrinogens Journal Articles
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 Journal Articles
Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height Journal Articles
Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height Journal Articles
Meta-analysis of SNPs involved in variance heterogeneity using Levene’s test for equal variances Journal Articles
Meta-analysis of genetic association studies under heterogeneity Journal Articles
Microarray analysis of RpoS-mediated gene expression in Escherichia coli K-12 Journal Articles
Miglustat as a therapeutic agent: prospects and caveats Journal Articles
Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy Journal Articles
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 Journal Articles
Modifier gene study of meconium ileus in cystic fibrosis: statistical considerations and gene mapping results Journal Articles
Modulation of 5-hydroxytryptamine 4 (5HT4) receptor isoform expression predisposes to atrial fibrillation after coronary artery bypass surgery. Conferences
Molecular Genetics and Genomics Journal
Molecular Genetics and Metabolism Journal
Molecular Polymorphism and Divergence of Duplicated Genes in Tetraploid African Clawed Frogs (Xenopus) Journal Articles
Molecular analysis and genotype‐phenotype correlation of Diamond‐Blackfan anemia Journal Articles
Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression Journal Articles
Molecular characterization of chromosome 4p inversion breakpoints in two autistic siblings. Conferences
Molecular cloning of thentrA gene of the broad host-rangeRhizobium sp. NGR234, and phenotypes of a site-directed mutant Journal Articles
Molecular cytogenetic analysis of a series of 23 DiGeorge syndrome patients by fluorescence in situ hybridization. Journal Articles
Molecular diagnosis of Smith-Lemli-Opitz syndrome (SLOS) in a fetus with renal agenesis. Conferences
Molecular genetic analysis of severe protein C deficiency. Journal Articles
Molecular genetic study of three patients with the 22q11 deletion syndrome. Conferences
Molecular organization and haplotype analysis of centromeric DNA from human chromosome 17: Implications for linkage in neurofibromatosis Journal Articles
Molecular, biochemical and clinical aspects of Smith-Lemli-Opitz syndrome in Cuban patients. Conferences
Monocarboxylate transporters and mitochondrial creatine kinase protein content in McArdle disease Journal Articles
Monosomy 1pter syndrome: A case report. Conferences
Monosomy for the most telomeric, gene-rich region of the short arm of human chromosome 16 causes minimal phenotypic effects Journal Articles
Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis Journal Articles
Mosaic sex chromosome anomalies in a normal appearing male newborn: prenatal and postnatal molecular cytogenetics studies. Conferences
Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation Journal Articles
Mucolipidosis II. The clinical, radiological and biochemical features in three cases Journal Articles
Multidisciplinary study of in utero presentation of fetal GM1 gangliosidosis at 17 weeks gestation. Conferences
Multigene panels in prostate cancer risk assessment: a systematic review Journal Articles
Multilocus loss of DNA methylation in individuals with mutations in the histone H3 Lysine 4 Demethylase KDM5C Journal Articles
Multiprobe fluorescence in situ hybridisation (FISH) telomere assay detects cryptic chromosome rearrangements in the alpha thalassaemia mental retardation (ATR-16) syndrome. Conferences
Murine Hn1 on Chromosome 11 is expressed in hemopoietic and brain tissues Journal Articles
Murine β-galactosidase stability is not dependent on temperature or protective protein/cathepsin A Journal Articles
Mutant huntingtin causes defective actin remodeling during stress: defining a new role for transglutaminase 2 in neurodegenerative disease Journal Articles
Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism Journal Articles
Mutations in EBF3 disturb transcriptional profiles and cause intellectual disability, ataxia, and facial dysmorphism Conferences
Mutations in POLRMT impair mitochondrial transcription and are associated with a spectrum of mitochondrial disease presentations Conferences
Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome Journal Articles
Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia Journal Articles
Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation Journal Articles
Mutations inSYNGAP1Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency Journal Articles
NCAM1-TTC12-ANKK1-DRD2 variants and smoking motives as novel intermediate phenotypes for nicotine dependence Conferences
NEPHRO-BLASTOMA AND THE 11P- CHROMOSOME Conferences
NEW METHOD FOR NON-SELECTIVE ISOLATION OF HYBRIDS BETWEEN HUMAN DIPLOID FIBROBLASTS Conferences
Natural disease course and genotype‐phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases Journal Articles
Neurodevelopment of Children Exposed In Utero to Venlafaxine: Preliminary Results Conferences
Neurodevelopment of Children Exposed In Utero to Venlafaxine; Children Exposed to SSRIs and Non-teratogens as Comparison Groups Conferences
Neurodevelopment of children exposed to antidepressant medications during gestation: A critical overview and meta-analysis. Conferences
Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact Journal Articles
Neuronal pentraxin 1 depletion delays neurodegeneration and extends life in Sandhoff disease mice Journal Articles
New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome Journal Articles
No longer just an intermediate: Cystathionine protects against endoplasmic reticulum stress induced lipid accumulation and apoptotic cell death Conferences
Non-invasive prenatal diagnosis of beta-thalassemia by mass spectrometric analysis of fetal DNA in maternal plasma. Conferences
Novel GNE Mutations in Autosomal Recessive Hereditary Inclusion Body Myopathy Patients Journal Articles
Novel and recurrent EMD mutations in patients with Emery–Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot Journal Articles
Novel craniofacial and extracraniofacial findings in a case of Treacher Collins syndrome with a pathogenic mutation and a missense variant in the TCOF1 gene Journal Articles
Novel seventeen basepair deletion in exon 3 of the β-globin gene Journal Articles
Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660) Journal Articles
Nuclear localization of the NEU4 isoforms in human fibroblasts and HepG2 cell line Journal Articles
Nutritional co-therapy with 1,3-butanediol and multi-ingredient antioxidants enhances autophagic clearance in Pompe disease Journal Articles
OCULAR MANIFESTATIONS OF JACOBSEN SYNDROME (11Q-) Conferences
OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome Journal Articles
OTUD7A regulates neurodevelopmental phenotypes in the 15q13.3 microdeletion syndrome Conferences
Odds-ratio regression models for testing joint transmission of candidate genes for tuberculosis. Conferences
Oligogenic segregation analysis of obesity-related traits in hypertensive families from a French-Canadian isolate. Conferences
Opportunistic genomic screening has clinical utility: An interventional cohort study. Journal Articles
Organization and genomic distribution of ?82H? alpha satellite DNA Journal Articles
Orphanet Journal of Rare Diseases Journal
Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review Journal Articles
Ovarian Failure Related to Eukaryotic Initiation Factor 2B Mutations Journal Articles
Oxidative stress and Nrf2 signaling in McArdle disease Journal Articles
PATHOLOGICAL EXAMINATION OF THE LUNG IN A FABRY PATIENT ON ENZYME REPLACEMENT THERAPY Conferences
PROGRAM DESCRIPTION Journal Articles
PSEUDO ARYLSULFATASE-A DEFICIENCY DISORDER - A GENETIC AND BIOCHEMICAL EXPLANATION Conferences
Pallister-Killian syndrome due to a novel chromosome abnormality: A case of 12p intrachromosomal triplication. Conferences
Paraspinal ganglioneuroma in the proband of a large family with mild cutaneous manifestations of NF1, carrying a deep NF1 intronic mutation Journal Articles
Parents’ Understanding of Genetics and Heritability Journal Articles
Partial monosomy 1q43 and partial trisomy 20q13.2: a case report Journal Articles
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies Journal Articles
Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society Journal Articles
Penetrance of Polygenic Obesity Susceptibility Loci across the Body Mass Index Distribution Journal Articles
Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression Journal Articles
Perceptions About Genetic Testing for the Susceptibility to Alcohol Dependence and Other Multifactorial Diseases Journal Articles
Performance of the eHealth decision support tool, MIPOGG, for recognising children with Li-Fraumeni, DICER1, Constitutional mismatch repair deficiency and Gorlin syndromes Journal Articles
Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease Journal Articles
Personalized medicine - the promised land: are we there yet? Journal Articles
Phalangeal hypoplasia, mental retardation, agenesis of the corpus callosum, brainstem abnormalities and ectopic grey matter: unique case or newly recognized syndrome? Journal Articles
PhenCode: connecting ENCODE data with mutations and phenotype Journal Articles
Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder Journal Articles
Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder Journal Articles
Phylogeographic genomics of mitochondrial DNA: Highly-resolved patterns of intraspecific evolution and a multi-species, microarray-based DNA sequencing strategy for biodiversity studies Journal Articles
Physical Mapping of 30 CA Repeats on Human Chromosome 22 Journal Articles
Physical mapping by FISH of the DiGeorge critical region (DGCR): involvement of the region in familial cases. Journal Articles
PlexinA polymorphisms mediate the developmental trajectory of human corpus callosum microstructure Journal Articles
Polygenic determinants of severe hypertriglyceridemia Journal Articles
Polymorphisms in the gene encoding bovine interleukin-10 receptor alpha are associated with Mycobacterium avium ssp. paratuberculosis infection status Journal Articles
Polyploidy in Amphibia Journal Articles
Practice guidelines for BRCA1/2 tumour testing in ovarian cancer Journal Articles
Predictive power of individual genetic and environmental factor scores Journal Articles
Preface Journal Articles
Preferences for prenatal tests for Down syndrome: an international comparison of the views of pregnant women and health professionals Journal Articles
Prenatal detection and perinatal management of a giant cervical teratoma. Conferences
Prenatal diagnosis by FISH of a 22q11 deletion in two families. Journal Articles
Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders Journal Articles
Prenatal level II mosaic marker representing true fetal mosaicism: What is the lesson? Conferences
Prenatal screening for aneuploidy using maternal blood spots on filter paper in the first and second trimester. Conferences
Prevalence of meconium ileus marks the severity of mutations of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene Journal Articles
Proceed with care: direct predictive testing for Huntington disease. Journal Articles
Protein C deficiency and thromboembolism: recurrent mutation at Arg 306 in the protein C gene Journal Articles
Psychosocial issues of burden for genetic conditions in the Chinese population. Conferences
Public health genomics Journal
Quality and content of abstracts in papers reporting about drug exposures during pregnancy Journal Articles
RAPID IMMUNOCYTOLOGICAL SCREENING FOR ADULT CARRIERS OF THE SOUTHEAST-ASIAN ALPHA-THALASSEMIA-1 DELETION (SEA) Conferences
RARE-Bestpractices: a platform for sharing best practices for the management of rare diseases Conferences
RESIDUAL ARYLSULFATASE-A ACTIVITY IN FIBROBLASTS FROM PATIENTS WITH METACHROMATIC LEUKODYSTROPHY Conferences
RESVERATROL FOR THE CORRECTION OF MITOCHONDRIAL DISORDERS Conferences
Rank-based genome-wide analysis reveals the association of Ryanodine receptor-2 gene variants with childhood asthma among human populations Journal Articles
Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities Journal Articles
Rare Deletions at the Neurexin 3 Locus in Autism Spectrum Disorder Journal Articles
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures Journal Articles
Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder Journal Articles
Recombination, mutation, or constitutive expression at a Gm locus and familial hypergammaglobulinemia. Journal Articles
Reconstitution of Wild-Type or Mutant Telomerase Activity in Telomerase-Negative Immortal Human Cells Journal Articles
Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity Journal Articles
Regional localization of 18 human X-linked DNA sequences Journal Articles
Repopulation of ?0 cells with mitochondria from a patient with a mitochondrial DNA point mutation in tRNAGly results in respiratory chain dysfunction Journal Articles
Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction Journal Articles
Response to Newman et al. Journal Articles
Return of genetic and genomic research findings: experience of a pediatric biorepository Journal Articles
RpoS regulation of gene expression during exponential growth of Escherichia coli K12 Journal Articles
SECRETION OF HUMAN FACTOR-IX THROUGH MICRO-ENCAPSULATED RECOMBINANT FIBROBLASTS Conferences
SHANK1 Deletions in Males with Autism Spectrum Disorder Journal Articles
SHORT-TERM BIOLOGICAL VARIANCE OF PHE IN PATIENTS WITH PHENYLKETONURIA Conferences
SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations Journal Articles
SNPs in the bovine IL-10 receptor are associated with somatic cell score in Canadian dairy bulls Journal Articles
SNPs in the neural cell adhesion molecule 1 gene (NCAM1) may be associated with human neural tube defects Journal Articles
SOLID ORGAN 'TRANSPLANTATION IN MITOCHONDRIAL DISEASE: PROCEED WITH CAUTION Conferences
SONOGRAPHIC FINDINGS IN HOMOZYGOUS ALPHA-DEGREES THALASSEMIA PRIOR TO THE ONSET OF HYDROPS Conferences
SPECTRUM OF ANOMALIES IN THE MECKEL SYNDROME Conferences
SPECTRUM OF BETA-THALASSEMIA MUTATIONS IN GREEK-CANADIANS - IDENTIFICATION OF A NOVEL CIRCLE-THALASSEMIA MUTATION, FRAMESHIFT CODONS 9/10(+T) Conferences
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females Journal Articles
SYMPTOMATIC MATERNAL 3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY ASCERTAINED FROM NEWBORN SCREENING Conferences
Safety and efficacy of sapropterin in children aged 0 to 6 years with phenylketonuria. preliminary findings from a long term open label study Conferences
Scoping review of the recommendations and guidance for improving the quality of rare disease registries Journal Articles
Screening for HHH syndrome in northern Saskatchewan Conferences
Screening of aneuploldy using maternal blood spots in the first and second trimester Conferences
Selecting a BRCA risk assessment model for use in a familial cancer clinic Journal Articles
Sensitive and Efficient Detection of RB1 Gene Mutations Enhances Care for Families with Retinoblastoma Journal Articles
Sequence overlap between autosomal and sex-linked probes on the Illumina HumanMethylation27 microarray Journal Articles
Serum cholesterol and suicidality in Smith-Lemli-Opitz syndrome heterozygotes Conferences
Severe hemihypotrophy in a female infant with mosaic Turner syndrome: a variant of Russell???Silver syndrome? Journal Articles
Severe intellectual disability and autistic features associated with microduplication 2q23.1 Journal Articles
Severe knee hyperextension in a fetus with trisomy 21: Association or coincidence? Conferences
Severe neurocognitive and growth disorders due to variation in THOC2 , an essential component of nuclear mRNA export machinery Journal Articles
Severe prenatal growth retardation, dysmorphic features, pigmentary retinopathy, and generalized absence of subcutaneous tissues: a new entity? Journal Articles
Sialidase-mediated depletion of GM2 ganglioside in Tay-Sachs neuroglia cells Journal Articles
Site-directed mutagenesis and DNA sequence of pckA of Rhizobium NGR234, encoding phosphoenolpyruvate carboxykinase: gluconeogenesis and host-dependent symbiotic phenotype Journal Articles
Six new patients with malonyl-CoA decarboxylase (MCD) deficiency: expanding the phenotypic heterogeneity. Conferences
Six novel mutations in the myophosphorylase gene in patients with McArdle disease and a family with pseudo-dominant inheritance pattern Journal Articles
Sjogren-Larsson syndrome: Motor performance and everyday functioning Conferences
Smith-Lemli-Opitz syndrome: carrier frequency and spectrum of DHCR7 mutations in Canada Journal Articles
Smith–Lemli–Opitz syndrome and other disorders of cholesterol biosynthesis: An introduction Journal Articles
Smith–Lemli–Opitz syndrome with a classical phenotype, oesophageal achalasia and borderline plasma sterol concentrations Journal Articles
Smith–Lemli–Opitz syndrome: Phenotype, natural history, and epidemiology Journal Articles
Sociability in Fruit Flies: Genetic Variation, Heritability and Plasticity Journal Articles
Solid organ transplantation in primary mitochondrial disease: Proceed with caution Journal Articles
Somatic cell hybridization studies on the genetic regulation and allelic mutations in metachromatic leukodystrophy Journal Articles
Spinocerebellar Ataxia Type 1 protein Ataxin-1 is signaled to DNA damage by ataxia-telangiectasia mutated kinase Journal Articles
Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia Journal Articles
Structural Variation of Chromosomes in Autism Spectrum Disorder Journal Articles
Structure and regulation of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in killifish: A comparative genomics approach Journal Articles
Sub-lethal effects of calcium dinonylnaphthalenesulfonate on Western clawed frog embryos Journal Articles
Supradiaphragmatic accessory lobe of the liver in BB Wistar rats Journal Articles
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) Journal Articles
THE EXTRA CHROMOSOME IN CAT EYE SYNDROME (CES) IS DERIVED FROM CHROMOSOME-22 - EVIDENCE FROM INSITU HYBRIDIZATION OF A CHROMOSOME-22 SPECIFIC DNA PROBE Conferences
THE GENE FOR NF1 (VON RECKLINGHAUSEN NEUROFIBROMATOSIS) IS ON CHROMOSOME-17 NEAR THE CENTROMERE Conferences
THE SCOTTISH-CHILDRENS-TUMOUR-REGISTER - CLINICAL, PATHOLOGICAL AND CYTOGENETIC CONSIDERATIONS Conferences
TOWARDS A LINKAGE MAP OF CHROMOSOME-20 Conferences
TRANSIENT NEONATAL HYPERPARATHYROIDISM: A PRESENTING FEATURE OF SIALIDOSIS TYPE II Conferences
TRINUCLEOTIDE REPEAT POLYMORPHISM IN THE ANTITHROMBIN-III GENE - ALLELE FREQUENCY DATA FOR 3 POPULATION GROUPS Conferences
Targeting TEAD/YAP-transcription-dependent necrosis, TRIAD, ameliorates Huntington’s disease pathology Journal Articles
Telomere maintenance by telomerase and by recombination can coexist in human cells Journal Articles
Telomeric FISH analysis: the use of telomeric probes for the characterisation of visible chromosome rearrangements using fluorescence in situ hybridization. Conferences
Temtamy Preaxial Brachydactyly Syndrome Is Caused by Loss-of-Function Mutations in Chondroitin Synthase 1, a Potential Target of BMP Signaling Journal Articles
Ten new patients with malonyl-coenzyme a decarboxylase (MCD) deficiency Conferences
Testing for maternal and fetal effects in autism. Conferences
Testing personalized medicine: patient and physician expectations of next-generation genomic sequencing in late-stage cancer care Journal Articles
Tests for the replication of an association between Egfr and natural variation in Drosophila melanogaster wing morphology Journal Articles
Thalassemia in Sri Lanka: a progress report Journal Articles
The Gene Encoding p120cas, a Novel Catenin, Localizes on Human Chromosome 11q11 (CTNND) and Mouse Chromosome 2 (Catns) Journal Articles
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 Journal Articles
The Sensitivity of Variance Component Estimates to Underreporting: Method and Application to Substance Abuse Data Journal Articles
The Smith–Lemli–Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology Journal Articles
The Telomere Lengthening Mechanism in Telomerase-Negative Immortal Human Cells Does Not Involve the Telomerase RNA Subunit Journal Articles
The association of polythelia with segmentation defects of the vertebrae Journal Articles
The association of previously reported polymorphisms for microvascular complications in a meta-analysis of diabetic retinopathy Journal Articles
The broader autism phenotype: Defining genetically informative dimensions. Conferences
The current state of cancer family history collection tools in primary care: a systematic review Journal Articles
The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations Journal Articles
The frequency of inherited defects of colour vision in some Israeli populations. Journal Articles
The genotypic and phenotypic spectrum of MTO1 deficiency Journal Articles
The gut content microbiome of wild-caught rainbow darter is altered during laboratory acclimation Journal Articles
The human arylsulfatase-C isoenzymes: two distinct genes that escape from X inactivation. Journal Articles
The human telomerase catalytic subunit hTERT: organization of the gene and characterization of the promoter Journal Articles
The huntingtin N17 domain is a multifunctional CRM1 and Ran-dependent nuclear and cilial export signal Journal Articles
The impact of inaccurate ages on a potential association between tuberculosis and NRAMP1. Conferences
The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP Journal Articles
The relation between DNA methylation patterns and serum cytokine levels in community-dwelling adults: a preliminary study Journal Articles
The risks of breast and ovarian cancer associated with the Ashkenazi Jewish founder allele BRCA2 6174delT Journal Articles
The role of clinical response to treatment in determining pathogenicity of genomic variants Journal Articles
The role of microsatellite instability in patients with gastric cancer: A case-control study in high-frequent area. Conferences
The therapeutic potential of pharmacological chaperones and proteosomal inhibitors, Celastrol and MG132 in the treatment of sialidosis Journal Articles
Therapeutic potential of exosomes in Pompe disease: Treatment of tomorrow, today for lysosomal diseases Conferences
Thiamine responsive megaloblastic anemia presenting as microcytic anaemia: an unusual case with novel mutations. Conferences
Tissue-specific expression of human arylsulfatase-C isozymes and steroid sulfatase. Journal Articles
Transcriptional induction of human lysosomal sialidase promoter as a potential strategy for the treatment of Tay Sachs disease Conferences
Transgenic expression of neuronal dystonin isoform 2 partially rescues the disease phenotype of the dystonia musculorum mouse model of hereditary sensory autonomic neuropathy VI. Journal Articles
Trisomy 21 and Ebstein Anomaly. Conferences
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia Journal Articles
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia Journal Articles
Twin Research and Human Genetics Journal
Two different missense mutations at Arg 178 of the protein C (PROC) gene causing recurrent venous thrombosis Journal Articles
Understanding the population structure of North American patients with cystic fibrosis Journal Articles
Universal Newborn Screening for Hb H Disease in California Journal Articles
Update of the spectrum of GJB2 mutations in 107 patients with nonsyndromic hearing loss in the Fujian population of China. Journal Articles
Urine sulfite assay: how important is the "freshness" of urine samples? Conferences
Use of dexamethasone in acute rhabdomyolysis in Lipin-1 deficiency Conferences
Use of immunosuppressive agents in gene therapy for prolonged delivery of recombinant products. Conferences
Use of latent class models to accommodate inter-laboratory variation in assessing genetic polymorphisms associated with disease risk Journal Articles
Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes Journal Articles
Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care Journal Articles
Utrophin A is essential in mediating the functional adaptations of mdx mouse muscle following chronic AMPK activation Journal Articles
VARIATION IN DIAGNOSTIC CARE AND DISEASE CLASSIFICATION STRATEGIES FOR PAH DEFICIENCY: UPDATED FINDINGS FROM THE CANADIAN INHERITED METABOLIC DISEASES RESEARCH NETWORK (CIMDRN) Conferences
VISUALIZATION OF NUCLEOLAR ORGANIZER REGIONS IN SLOTHS (BRADYPUS-VARIEGATUS AND SCAEOPUS-TORQUATUS) Journal Articles
Variability in the clinical management of fatty acid oxidation disorders: results of a survey of Canadian metabolic physicians Journal Articles
Variants in CAPN3 Causing Autosomal Dominant Limb-Girdle Muscular Dystrophy Combined With Calpain-3 Deficiency. Journal Articles
Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia Journal Articles
Variants of the SFTPA1 and SFTPA2 genes and susceptibility to tuberculosis in Ethiopia Journal Articles
Voluntary and electrically evoked strength characteristics of obese and nonobese preadolescent boys. Journal Articles
WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations Journal Articles
Weight correction and ethnic differences for first trimester Down syndrome biochemical markers. Conferences
Weight gain and the risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers Journal Articles
Whole-genome array-CGH for detection of submicroscopic chromosomal imbalances in children with mental retardation Journal Articles
Whole‐exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study Journal Articles
Whole‐exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum Journal Articles
Whole‐exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families Journal Articles
Widening the lens of actionability: A qualitative study of primary care providers’ views and experiences of managing secondary genomic findings Journal Articles
eP160: Bilateral oophorectomy and the risk of breast cancer in women with a pathogenic variant in BRCA1: A reappraisal Conferences
eP299: Genetics adviser: The development and usability testing of a new patient-centered digital health application to support clinical genomic testing Conferences
eP392: A comprehensive genomic test reporting structure for communicating cancer and incidental findings Conferences
“I don’t need any more unknowns hanging over my head”: Views of patients with cancer on variants of uncertain significance and low/moderate risk results from genomic sequencing Journal Articles

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