Author details

Full Name

Cristopher V Van Hout

Affiliation

ORCID

Career Start Year

2003

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
36927983	Clinical case study meets population cohort: identification of a BRCA1 pathogenic founder variant in Orcadians.	Eur J Hum Genet	2023
36882501	Genome-wide significant risk loci for mood disorders in the Old Order Amish founder population.	Mol Psychiatry	2023
34935254	Biallelic truncating variants in the muscular A-type lamin-interacting protein (MLIP) gene cause myopathy with hyperCKemia.	Eur J Neurol	2022
35688891	Functional characterization of a novel p.Ser76Thr variant in IGFBP4 that associates with body mass index in American Indians.	Eur J Hum Genet	2022
34655148	A missense variant Arg611Cys in LIPE which encodes hormone sensitive lipase decreases lipolysis and increases risk of type 2 diabetes in American Indians.	Diabetes Metab Res Rev	2022
34855475	Genetic and functional evidence links a missense variant in <i>B4GALT1</i> to lower LDL and fibrinogen.	Science	2021
33542107	Heterozygosity for a Pathogenic Variant in <i>SLC12A3</i> That Causes Autosomal Recessive Gitelman Syndrome Is Associated with Lower Serum Potassium.	J Am Soc Nephrol	2021
33692434	Mutation spectrum of NOD2 reveals recessive inheritance as a main driver of Early Onset Crohn's Disease.	Sci Rep	2021
33616283	Exome Sequencing of 21 Bardet-Biedl Syndrome (BBS) Genes to Identify Obesity Variants in 6,851 American Indians.	Obesity (Silver Spring)	2021
33875299	Next generation sequencing for HLA loci in full heritage Pima Indians of Arizona, Part II: HLA-A, -B, and -C with selected non-classical loci at 4-field resolution from whole genome sequences.	Hum Immunol	2021
34184762	Genome-wide association analysis of serum alanine and aspartate aminotransferase, and the modifying effects of BMI in 388kÂ European individuals.	Genet Epidemiol	2021
33326753	Leveraging phenotypic variability to identify genetic interactions in human phenotypes.	Am J Hum Genet	2021
35047837	Genome-wide survey of parent-of-origin-specific associations across clinical traits derived from electronic health records.	HGG Adv	2021
34467620	The burden of pathogenic variants in clinically actionable genes in a founder population.	Am J Med Genet A	2021
31400194	U-PASS: unified power analysis and forensics for qualitative traits in genetic association studies.		2020
31836692	Clinical and Molecular Prevalence of Lipodystrophy in an Unascertained Large Clinical Care Cohort.	Diabetes	2020
32886191	Assessment of the potential role of natural selection in type 2 diabetes and related traits across human continental ancestry groups: comparison of phenotypic with genotypic divergence.	Diabetologia	2020
32818236	Exome Sequencing Identifies A Nonsense Variant in DAO Associated With Reduced Energy Expenditure in American Indians.	J Clin Endocrinol Metab	2020
32646941	Angiopoietin-like protein 3 governs LDL-cholesterol levels through endothelial lipase-dependent VLDL clearance.	Journal of Lipid Research	2020
33141630	<i>KCNQ1</i> and Long QT Syndrome in 1/45 Amish: The Road From Identification to Implementation of Culturally Appropriate Precision Medicine.	Circ Genom Precis Med	2020
33087929	Exome sequencing and characterization of 49,960 individuals in the UK Biobank.	Nature	2020
32640185	Characterization of Exome Variants and Their Metabolic Impact in 6,716 American Indians from the Southwest US.	Am J Hum Genet	2020
31706744	Next generation sequencing and the classical HLA loci in full heritage Pima Indians of Arizona: Defining the core HLA variation for North American Paleo-Indians.	Hum Immunol	2019
29727688	Profiling and Leveraging Relatedness in a Precision Medicine Cohort of 92,455 Exomes.	Am J Hum Genet	2018
28726809	Genomic diagnostics within a medically underserved population: efficacy and implications.	Genet Med	2018
29899519	Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes.	Nat Commun	2018
28538136	Genetic and Pharmacologic Inactivation of ANGPTL3 and Cardiovascular Disease.	N Engl J Med	2017
28008009	Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.	Science	2016
26933753	Inactivating Variants in ANGPTL4 and Risk of Coronary Artery Disease.	N Engl J Med	2016
26776183	INTEGRATING CLINICAL LABORATORY MEASURES AND ICD-9 CODE DIAGNOSES IN PHENOME-WIDE ASSOCIATION STUDIES.	Pac Symp Biocomput	2016
25807536	Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.	PLoS One	2015
25194160	Using Mendelian inheritance to improve high-throughput SNP discovery.	Genetics	2014
22051423	Determinants of blood pressure response to low-salt intake in a healthy adult population.	J Clin Hypertens (Greenwich)	2011
19697356	Extent and distribution of linkage disequilibrium in the Old Order Amish.	Genet Epidemiol	2010
15993838	Long-term RNA interference from optimized siRNA expression constructs in adult mice.	Biochemical and Biophysical Research Communications	2005
12600952	Exploiting the enzymatic recognition of an unnatural base pair to develop a universal genetic analysis system.	Clinical Chemistry	2003