American Journal of Human Genetics

publication venue for

Influence of Genetic Ancestry on Human Serum Proteome 2020
45,X/46,XY mosaicism confined to amnion in a stillborn 46,XY male with IUGR. 2003
A mutation of the myosin heavy chain-7 tail domain results in an autosomal dominant hyaline body myopathy. 2003
BRCA1 germ-line mutation status, distinctive cell cycle proteins expression and outcome after breast cancer. 2003
Disentangling the autism phenotype; a sib-pair analysis. 2003
Modulation of 5-hydroxytryptamine 4 (5HT4) receptor isoform expression predisposes to atrial fibrillation after coronary artery bypass surgery. 2003
Molecular characterization of chromosome 4p inversion breakpoints in two autistic siblings. 2003
Mosaic sex chromosome anomalies in a normal appearing male newborn: prenatal and postnatal molecular cytogenetics studies. 2003
Non-invasive prenatal diagnosis of beta-thalassemia by mass spectrometric analysis of fetal DNA in maternal plasma. 2003
Odds-ratio regression models for testing joint transmission of candidate genes for tuberculosis. 2003
Oligogenic segregation analysis of obesity-related traits in hypertensive families from a French-Canadian isolate. 2003
Prenatal level II mosaic marker representing true fetal mosaicism: What is the lesson? 2003
Serum cholesterol and suicidality in Smith-Lemli-Opitz syndrome heterozygotes 2003
The impact of inaccurate ages on a potential association between tuberculosis and NRAMP1. 2003
Weight correction and ethnic differences for first trimester Down syndrome biochemical markers. 2003
A randomized.controlled trial (RCT) to evaluate the use of misoprostol for second trimester pregnancy termination associated with fetal malformation 2002
Carrier frequency of the Smith-Lemli-Opitz IVS8-1GC mutation of the DHCR7 gene in African Americans. 2002
Evaluation of ductus venosus blood flow as a screening marker for Down syndrome in the first-trimester 2002
FISH of kidney touch preparation: a useful approach to chromosome studies of products of conception. 2002
Identification of twelve new arylsulfatase A gene mutations in metachromatic leukodystrophy (MILD) patients. 2002
Identifying genetically informative phenotypes in autism spectrum disorders (ASD). 2002
Molecular, biochemical and clinical aspects of Smith-Lemli-Opitz syndrome in Cuban patients. 2002
Monosomy 1pter syndrome: A case report. 2002
Screening of aneuploldy using maternal blood spots in the first and second trimester 2002
Thiamine responsive megaloblastic anemia presenting as microcytic anaemia: an unusual case with novel mutations. 2002
An adjacent-2 segregation in a balanced familial t(9;15)(q32;q13) with a large centric segment. 2001
Cornelia de Lange syndrome - Prenatal manifestations: Report of four cases. 2001
Good response to chemotherapy (CT) and hormonotherapy (HT) in patients with BRCA1-related breast cancer (BRCA1-BC). 2001
Interspecific comparisons of 35 nuclear receptor superfamily members show the NROB subfamily to be permissive for sequence variability. 2001
Molecular diagnosis of Smith-Lemli-Opitz syndrome (SLOS) in a fetus with renal agenesis. 2001
Molecular genetic study of three patients with the 22q11 deletion syndrome. 2001
Pallister-Killian syndrome due to a novel chromosome abnormality: A case of 12p intrachromosomal triplication. 2001
Prenatal detection and perinatal management of a giant cervical teratoma. 2001
Prenatal screening for aneuploidy using maternal blood spots on filter paper in the first and second trimester. 2001
Severe knee hyperextension in a fetus with trisomy 21: Association or coincidence? 2001
A model for the genetic etiology of autism spectrum disorders involving alleles at maternal and fetal susceptibility loci. 2000
A study to determine the genetic basis of uterine papillary serous adenocarcinoma. 2000
DAX1/SHP family of the nuclear hormone receptor superfamily appears predisposed to sequence variability. 2000
Information needs of women at risk for hereditary breast cancer. 2000
Psychosocial issues of burden for genetic conditions in the Chinese population. 2000
Testing for maternal and fetal effects in autism. 2000
The broader autism phenotype: Defining genetically informative dimensions. 2000
Attitudes about hereditary breast cancer among diverse breast cancer survivors. 1999
Cloning of two genes from the 22q11 deletion syndrome proximal critical region. 1999
Direct duplication of 4p14p15.31. 1999
Duplication 1q32-q44 and multiple congenital anomalies. 1999
Dysmorphic facial features, CNS abnormalities, hand malformations, and myocardial cytomegaly in three female fetuses: A familial fetal neurodegenerative disorder? 1999
Dysmorphic features, multiple congenital anomalies, and preaxial polydactyly of feet: Diabetic embryopathy or a malformation syndrome? 1999
Efficient identification of retinoblastoma gene mutations enhances health care. 1999
Trisomy 21 and Ebstein Anomaly. 1999
A 9 nt deletion in mt DNA in 2 siblings with pervasive developmental disorder (PDD) and mitochondrial myopathy. 1997
Breast cancer gene testing: health care preferences and its costs implications. 1997
Characterization of clonal chromosome rearrangements using FISH in a cell line derived from ovarian epithelial cancer (EOC). 1997
Establishment of a transcription map in the 22q11.2 microdeletion syndrome critical region. 1997
Multiprobe fluorescence in situ hybridisation (FISH) telomere assay detects cryptic chromosome rearrangements in the alpha thalassaemia mental retardation (ATR-16) syndrome. 1997
Telomeric FISH analysis: the use of telomeric probes for the characterisation of visible chromosome rearrangements using fluorescence in situ hybridization. 1997
Use of immunosuppressive agents in gene therapy for prolonged delivery of recombinant products. 1997
CARUNCLE ABNORMALITIES IN OCULO-AURICULO-VERTEBRAL SPECTRUM 1995
CHROMOSOMAL FRAGILE SITES IN PATIENTS WITH BIPOLAR AFFECTIVE-DISORDER 1995
CONGENITAL NEPHROTIC SYNDROME AND BRAIN DYSGENESIS - A NEW SYNDROME 1995
LACK OF EXPANSION OF TRIPLET REPEATS IN THE FMR1, FRAXE, AND FRAXF GENES IN MULTIPLEX MALE FAMILIES WITH AUTISM AND PERVASIVE DEVELOPMENTAL DISORDERS 1995
OCULAR MANIFESTATIONS OF JACOBSEN SYNDROME (11Q-) 1995
ALLOGENEIC SOMATIC GENE-THERAPY - CORRECTION OF GROWTH-HORMONE DEFICIENCY IN DWARF MICE WITH MICRO-ENCAPSULATED NON-AUTOLOGOUS MYOBLASTS 1993
DELIVERY OF MOLECULAR-GENETIC SERVICES - CAN FINITE HEALTH-CARE RESOURCES SUPPORT IT 1993
EFFECT OF BONE-MARROW TRANSPLANT OF THE BEHAVIORAL ABNORMALITIES OF A MURINE MODEL OF MUCOPOLYSACCHARIDOSIS TYPE-VII (SLY DISEASE) 1993
RAPID IMMUNOCYTOLOGICAL SCREENING FOR ADULT CARRIERS OF THE SOUTHEAST-ASIAN ALPHA-THALASSEMIA-1 DELETION (SEA) 1993
SONOGRAPHIC FINDINGS IN HOMOZYGOUS ALPHA-DEGREES THALASSEMIA PRIOR TO THE ONSET OF HYDROPS 1993
SPECTRUM OF BETA-THALASSEMIA MUTATIONS IN GREEK-CANADIANS - IDENTIFICATION OF A NOVEL CIRCLE-THALASSEMIA MUTATION, FRAMESHIFT CODONS 9/10(+T) 1993
TRINUCLEOTIDE REPEAT POLYMORPHISM IN THE ANTITHROMBIN-III GENE - ALLELE FREQUENCY DATA FOR 3 POPULATION GROUPS 1993
A COMBINATION OF TRADITIONAL CYTOGENETIC TECHNIQUES AND INSITU HYBRIDIZATION HAS ALLOWED ELUCIDATION OF THE KARYOTYPE IN 2 YOUNG BOYS WITH ABNORMAL SEX-CHROMOSOME COMPLEMENTS 1991
ANTI-ZETA WILL RELIABLY DETECT (SEA) DOUBLE ALPHA-DELETIONS 1991
CHARACTERIZATION OF THE MATERNAL GENES INVOLVED IN THE SELECTION AGAINST TRISOMY 16 MOUSE FETUSES 1991
DELIVERY OF A NOVEL GENE-PRODUCT THROUGH MICRO-ENCAPSULATED NON-AUTOLOGOUS CELLS 1991
DOES TANDEMLY REPEATED DNA HAVE A BEGINNING AND AN END - MOLECULAR EVOLUTION OF ALPHA SATELLITE DNA 1991
INDUCTION OF FRAGILE SITES BY APHIDICOLIN AND METHOTREXATE IN HUMAN EMBRYONIC-CELLS 1991
SECRETION OF HUMAN FACTOR-IX THROUGH MICRO-ENCAPSULATED RECOMBINANT FIBROBLASTS 1991
ADULT ONSET POLYCYSTIC KIDNEY-DISEASE (APKD) - CLINICAL ONSET, PROGNOSIS AND ULTRASONOGRAPHIC DETECTION 1983
INACTIVATION PROPERTIES AT THE ARYLSULFATASE-C LOCUS 1982
PSEUDO ARYLSULFATASE-A DEFICIENCY DISORDER - A GENETIC AND BIOCHEMICAL EXPLANATION 1982
ARYLSULFATASE-C ISOZYMES IN HUMAN-TISSUES 1981
COMPLEMENTATION OF ARYLSULFATASE-A IN SOMATIC-CELL HYBRIDS FORMED BY FUSION BETWEEN FIBROBLASTS FROM PATIENTS WITH METACHROMATIC LEUKODYSTROPHY AND MULTIPLE SULFATASE DEFICIENT DISORDER 1979
RESIDUAL ARYLSULFATASE-A ACTIVITY IN FIBROBLASTS FROM PATIENTS WITH METACHROMATIC LEUKODYSTROPHY 1978
SPECTRUM OF ANOMALIES IN THE MECKEL SYNDROME 1978
NEW METHOD FOR NON-SELECTIVE ISOLATION OF HYBRIDS BETWEEN HUMAN DIPLOID FIBROBLASTS 1977
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling. 110:1377-1393. 2023
Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact. 109:1353-1365. 2022
ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies. 108:2017-2023. 2021
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females. 108:502-516. 2021
Identification of susceptibility loci for Takayasu arteritis through a large multi-ancestral genome-wide association study. 108:84-99. 2021
Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy. 108:176-185. 2021
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders. 106:356-370. 2020
Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay. 105:844-853. 2019
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia. 104:1251-1251. 2019
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease. 104:1007-1007. 2019
Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions. 104:685-700. 2019
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia. 104:767-773. 2019
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease. 104:466-483. 2019
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation. 103:553-567. 2018
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder. 102:1195-1203. 2018
OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome. 102:278-295. 2018
Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes. 102:156-174. 2018
Penetrance of Polygenic Obesity Susceptibility Loci across the Body Mass Index Distribution. 101:925-938. 2017
Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements. 101:206-217. 2017
CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions. 100:773-788. 2017
A Genome-wide Association Study Identifies Risk Alleles in Plasminogen and P4HA2 Associated with Giant Cell Arteritis. 100:64-74. 2017
Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism. 100:117-127. 2017
Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation. 100:91-104. 2017
Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia. 98:782-788. 2016
Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis. 98:579-587. 2016
A Large-Scale Genetic Analysis Reveals a Strong Contribution of the HLA Class II Region to Giant Cell Arteritis Susceptibility. 96:565-580. 2015
De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay. 96:462-473. 2015
Return of Genomic Results to Research Participants: The Floor, the Ceiling, and the Choices In Between. 94:818-826. 2014
Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders. 94:677-694. 2014
Maternal History of Oceania from Complete mtDNA Genomes: Contrasting Ancient Diversity with Recent Homogenization Due to the Austronesian Expansion. 94:721-733. 2014
Gene-centric Meta-analysis in 87,736 Individuals of European Ancestry Identifies Multiple Blood-Pressure-Related Loci. 94:349-360. 2014
Causal Effects of Body Mass Index on Cardiometabolic Traits and Events: A Mendelian Randomization Analysis. 94:198-208. 2014
Causal Effects of Body Mass Index on Cardiometabolic Traits and Events: A Mendelian Randomization Analysis. 94:312-312. 2014
Immunochip Analysis Identifies Multiple Susceptibility Loci for Systemic Sclerosis. 94:47-61. 2014
Genome-wide Association Analysis of Blood-Pressure Traits in African-Ancestry Individuals Reveals Common Associated Genes in African and Non-African Populations. 93:545-554. 2013
Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing. 93:249-263. 2013
Identification of Multiple Genetic Susceptibility Loci in Takayasu Arteritis. 93:298-305. 2013
Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation. 92:632-636. 2013
Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease. 92:605-613. 2013
A Highly Unstable Recent Mutation in Human mtDNA. 92:279-284. 2013
Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA. 91:1144-1149. 2012
Large-Scale Gene-Centric Meta-analysis across 32 Studies Identifies Multiple Lipid Loci. 91:823-838. 2012
Cross-Reactive DNA Microarray Probes Lead to False Discovery of Autosomal Sex-Associated DNA Methylation. 91:762-764. 2012
Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height. 90:1116-1117. 2012
SHANK1 Deletions in Males with Autism Spectrum Disorder. 90:879-887. 2012
Large-Scale Gene-Centric Meta-Analysis across 39 Studies Identifies Type 2 Diabetes Loci. 90:753-753. 2012
Large-Scale Gene-Centric Meta-Analysis across 39 Studies Identifies Type 2 Diabetes Loci. 90:410-425. 2012
Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome. 90:308-313. 2012
Rare Deletions at the Neurexin 3 Locus in Autism Spectrum Disorder. 90:133-141. 2012
Abdominal Aortic Aneurysm Is Associated with a Variant in Low-Density Lipoprotein Receptor-Related Protein 1. 89:619-627. 2011
Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height. 88:6-18. 2011
Temtamy Preaxial Brachydactyly Syndrome Is Caused by Loss-of-Function Mutations in Chondroitin Synthase 1, a Potential Target of BMP Signaling. 87:757-767. 2010
A Multiplex Human Syndrome Implicates a Key Role for Intestinal Cell Kinase in Development of Central Nervous, Skeletal, and Endocrine Systems. 84:822-822. 2009
Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations. 84:780-791. 2009
A Multiplex Human Syndrome Implicates a Key Role for Intestinal Cell Kinase in Development of Central Nervous, Skeletal, and Endocrine Systems. 84:134-147. 2009
Germline Mutations and Variants in the Succinate Dehydrogenase Genes in Cowden and Cowden-like Syndromes. 83:261-268. 2008
Loci Related to Metabolic-Syndrome Pathways Including LEPR,HNF1A, IL6R, and GCKR Associate with Plasma C-Reactive Protein: The Women's Genome Health Study. 82:1185-1192. 2008
Structural Variation of Chromosomes in Autism Spectrum Disorder. 82:477-488. 2008
Contribution of SHANK3 Mutations to Autism Spectrum Disorder. 81:1289-1297. 2007
Contribution of SHANK3 mutations to autism spectrum disorder.. 81:1289-1297. 2007
Cowden Syndrome–Affected Patients with PTEN Promoter Mutations Demonstrate Abnormal Protein Translation. 81:756-767. 2007
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. 80:673-682. 2007
Absence of a Paternally Inherited FOXP2 Gene in Developmental Verbal Dyspraxia. 79:965-972. 2006
Ovarian Failure Related to Eukaryotic Initiation Factor 2B Mutations. 72:1544-1550. 2003
Sensitive and Efficient Detection of RB1 Gene Mutations Enhances Care for Families with Retinoblastoma. 72:253-269. 2003
Delivery of molecular genetic services within a health care system: time analysis of the clinical workload. The Molecular Genetic Study Group.. 56:760-768. 1995
Proceed with care: direct predictive testing for Huntington disease.. 55:606-617. 1994
Physical mapping by FISH of the DiGeorge critical region (DGCR): involvement of the region in familial cases.. 53:1239-1249. 1993
Further localization of X-linked hydrocephalus in the chromosomal region Xq28.. 51:307-315. 1992
Fixed-bin analysis for statistical evaluation of continuous distributions of allelic data from VNTR loci, for use in forensic comparisons.. 48:841-855. 1991
Genetic mapping of X-linked albinism-deafness syndrome (ADFN) to Xq26.3-q27.I.. 47:20-27. 1990
Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. II. Cases without detectable abnormality of the alpha globin complex.. 46:1127-1140. 1990
The human arylsulfatase-C isoenzymes: two distinct genes that escape from X inactivation.. 46:729-737. 1990
An efficient strategy for gene mapping using multipoint linkage analysis: exclusion of the multiple endocrine neoplasia 2A (MEN2A) locus from chromosome 13.. 40:329-337. 1987
Tissue-specific expression of human arylsulfatase-C isozymes and steroid sulfatase.. 40:102-114. 1987
Breakpoint localization of the marker chromosome associated with the cat eye syndrome.. 38:978-980. 1986
Linkage analysis of a DNA marker localized to 20p12 and multiple endocrine neoplasia type 2A.. 37:890-897. 1985
Genetic mapping of DNA segments relative to the locus for the fragile-X syndrome at Xq27.3.. 37:463-472. 1985
Assigning a probability for paternity in apparent cases of mutation.. 33:617-628. 1981
Gaucher disease. III. Substrate specificity of glucocerebrosidase and the use of nonlabeled natural substrates for the investigation of patients.. 32:670-680. 1980
Recombination, mutation, or constitutive expression at a Gm locus and familial hypergammaglobulinemia.. 29:523-536. 1977

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