Publications
Export 78 results:
Filters: First Letter Of Title is H [Clear All Filters]
Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity. Genet Med. 2021 ;23(10):1901-1911.
. Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features. Hum Genet. 2017 ;136(4):377-386.
. Haplotype and linkage disequilibrium architecture for human cancer-associated genes. Genome Res. 2002 ;12(12):1846-53.
. Haplotype block linkage disequilibrium mapping. Front Biosci. 2003 ;8:a85-93.
. A haplotype map of the human genome. Nature. 2005 ;437(7063):1299-320.
Haplotype structure, LD blocks, and uneven recombination within the LRP5 gene. Genome Res. 2003 ;13(5):845-55.
. Haplotypes at ATM identify coding-sequence variation and indicate a region of extensive linkage disequilibrium. Am J Hum Genet. 2000 ;67(6):1437-51.
. Hares and tortoises in the race to sequence the human genome: expectations and realities. Trends Genet. 1997 ;13(10):381-3.
. Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network. Am J Hum Genet. 2019 ;105(3):588-605.
Harmonizing variant classification for return of results in the All of Us Research Program. Hum Mutat. 2022 ;43(8):1114-1121.
. The Healthcare Administrator's Associate: an experiment in distributed healthcare information systems. Proc AMIA Annu Fall Symp. 1997 ;:548-52.
. HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease. Science. 2020 ;369(6500):202-207.
. Hemichordate genomes and deuterostome origins. Nature. 2015 ;527(7579):459-65.
. Hemimetabolous genomes reveal molecular basis of termite eusociality. Nat Ecol Evol. 2018 ;2(3):557-566.
. Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features. Hum Mol Genet. 2023 ;32(20):2981-2995.
. Hepatocyte nuclear factor 1 and hypertensive nephropathy. Hypertension. 2008 ;51(6):1583-9.
. Heritability of alveolar bone loss from periodontal disease in a baboon population: a pilot study. J Periodontol. 2011 ;82(4):575-80.
. Heritability of brain volume, surface area and shape: an MRI study in an extended pedigree of baboons. Hum Brain Mapp. 2007 ;28(6):576-83.
. Heritability of social behavioral phenotypes and preliminary associations with autism spectrum disorder risk genes in rhesus macaques: A whole exome sequencing study. Autism Res. 2022 ;15(3):447-463.
. Heterozygous CTNNB1 and TBX4 variants in a patient with abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity. Clin Genet. 2019 ;96(4):366-370.
. Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. PLoS Genet. 2014 ;10(3):e1004258.
. A heterozygous mutation in RPGR associated with X-linked retinitis pigmentosa in a patient with Turner syndrome mosaicism (45,X/46,XX). Am J Med Genet A. 2018 ;176(1):214-218.
. Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome. Am J Hum Genet. 2018 ;102(6):1126-1142.
. Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability. Hum Mutat. 2017 ;38(10):1365-1371.
. .