Human Genetics

The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study.  141:853-863. 2022

Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.  140:1109-1120. 2021

Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies.  139:483-498. 2020

Leveraging linkage evidence to identify low-frequency and rare variants on 16p13 associated with blood pressure using TOPMed whole genome sequencing data.  138:199-210. 2019

Ultra-deep amplicon sequencing indicates absence of low-grade mosaicism with normal cells in patients with type-1 NF1 deletions.  138:73-81. 2019

Genome-wide association study of primary open-angle glaucoma in continental and admixed African populations.  137:847-862. 2018

Rare loss of function variants in candidate genes and risk of colorectal cancer.  137:795-806. 2018

Extreme clustering of type-1 NF1 deletion breakpoints co-locating with G-quadruplex forming sequences.  137:511-520. 2018

De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.  137:375-388. 2018

Trans-ethnic fine-mapping of genetic loci for body mass index in the diverse ancestral populations of the Population Architecture using Genomics and Epidemiology (PAGE) Study reveals evidence for multiple signals at established loci.  136:771-800. 2017

Epigenetic and genetic variation in GATA5 is associated with gastric disease risk.  135:895-906. 2016

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.  135:569-586. 2016

Host genetics and viral load in primary HIV-1 infection: clear evidence for gene by sex interactions.  133:1187-1197. 2014

Genetic variants associated with VLDL, LDL and HDL particle size differ with race/ethnicity.  132:405-413. 2013

Population stratiWcation may bias analysis of PGC-1α as a modiWer of age at Huntington disease motor onset.  131:1833-1840. 2012

BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome.  130:495-504. 2011

Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: A susceptibility region for neurological dysfunction including developmental and language delay.  130:517-528. 2011

Natural selection at genomic regions associated with obesity and type-2 diabetes: East Asians and sub-Saharan Africans exhibit high levels of differentiation at type-2 diabetes regions.  129:407-418. 2011

Clear and independent associations of several HLA-DRB1 alleles with diVerential antibody responses to hepatitis B vaccination in youth.  126:685-696. 2009

Association of Y chromosome haplogroup I with HIV progression, and HAART outcome.  125:281-294. 2009

Genomewide association study for susceptibility genes contributing to familial Parkinson disease.  124:593-605. 2009

Replication of association between ELAVL4 and Parkinson disease: The Gene PD study.  124:95-99. 2008

Common polymorphisms of ALOX5 and ALOX5AP and risk of coronary artery disease.  123:399-408. 2008

Exploring gene-environment interactions in Parkinson's disease.  123:257-265. 2008

A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus.  120:262-269. 2006

Propensity for paternal inheritance of de novo mutations in Alexander disease.  119:137-144. 2006

One step closer to fixing association studies: Evidence for age- and gender-specific allele frequency variations and deviations from Hardy-Weinberg expectations in controls.  118:322-330. 2005

Ancestral proportions and their association with skin pigmentation and bone mineral density in Puerto Rican women from New York city.  115:57-68. 2004

Genetic and clinical mosaicism in a patient with neurofibromatosis type 1.  114:284-290. 2004

Evidence for substantial effect modification by gender in a large-scale genetic association study of the metabolic syndrome among coronary heart disease patients.  114:87-98. 2003

Mutations in COCH that result in non-syndromic autosomal dominant deafness (DFNA9) affect matrix deposition of cochlin.  113:406-416. 2003

Interphase FISH, the structure of reciprocal translocation chromosomes and physical mapping studies rule out the duplication of the NF1 gene at 17q11.2. A reply.  113:188-190. 2003

A genome-wide screen reveals evidence for a locus on chromosome 11 influencing variation in LDL cholesterol in the NHLBI Family Heart Study.  111:263-269. 2002

Evidence for a gene influencing heart rate on chromosome 4 among hypertensives.  111:207-213. 2002

Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America.  108:51-54. 2001

Mitochondrial DNA haplogroups and APOE4 allele are non-independent variables in sporadic Alzheimer's disease.  108:194-198. 2001

Segregation analysis of serum uric acid in the NHLBI Family Heart Study.  106:355-359. 2000

Noonan-like phenotype in monozygotic twins with a duplication-deficiency of the long arm of chromosome 18 resulting from a maternal paracentric inversion.  103:497-505. 1998

Molecular characterization and delineation of subtle deletions in de novo 'balanced' chromosomal rearrangements.  103:173-178. 1998

Polymorphic tetranucleotide repeat site within intron 7 of the β-amyloid precursor protein gene and its lack of association with Alzheimer's disease.  103:86-89. 1998

Characterisation of two different nonsense mutations, C6792A and C6792G, causing skipping of exon 37 in the NF1 gene.  101:75-80. 1997

Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephaly..  100:172-181. 1997

HLA-DRA promoter polymorphism and diversity generation within the immune system.  99:801-805. 1997

Somatic mosaicism for deletion of the entire NFI gene identified by FISH.  99:209-213. 1997

Human malformations similar to those in the mouse mutation disorganization (Ds).  92:461-464. 1993

Genetic linkage analysis of bipolar affective disorder in an Old Order Amish pedigree.  88:562-568. 1992

Localization of the LDHA gene to 11p14→11p15 by in situ hybridization of an LDHA cDNA probe to two translocations with breakpoints in 11p13.  74:331-334. 1986

Linkage relationships of Lp and Ag serum lipoproteins with 25 polymorphic markers.  37:291-297. 1977

The role of trypsin in the pre-treatment of chromosomes for giemsa banding.  31:27-33. 1976