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