Area of research
Genetics
Research interest
Research interests include Genetic Associations and Epidemiology, Forensic and Genetic Research, Genetic diversity and population structure, and Genomics and Rare Diseases.
Human de novo mutation rates from a four-generation pedigree reference
The Platinum Pedigree: a long-read benchmark for genetic variants
Human acrocentric chromosome short arm <i>de novo</i> mutation and recombination
Whole-genome sequencing analysis in families with recurrent pregnancy loss: A pilot study
The mutational dynamics of short tandem repeats in large, multigenerational families
De novo structural mutation rates and gamete-of-origin biases revealed through genome sequencing of 2,396 families
Large-scale Identification of Clonal Hematopoiesis and Mutations Recurrent in Blood Cancers
The Simons Genome Diversity Project: A Global Analysis of Mobile Element Diversity
Germline mutation rates in young adults predict longevity and reproductive lifespan
Overlooked roles of DNA damage and maternal age in generating human germline mutations
Large, three-generation human families reveal post-zygotic mosaicism and variability in germline mutation accumulation
Association of Schizophrenia Risk With Disordered Niacin Metabolism in an Indian Genome-wide Association Study
10FIRST GENOME-WIDE ASSOCIATION STUDY OF SCHIZOPHRENIA IN AN INDIAN POPULATION REVEALS A NOVEL SUSCEPTIBILITY LOCUS
The VAAST Variant Prioritizer (VVP): ultrafast, easy to use whole genome variant prioritization tool
Targeted Gene Sequencing in Children with Crohn’s Disease and Their Parents: Implications for Missing Heritability
Evolutionary history of Tibetans inferred from whole-genome sequencing
Primary Ovarian Insufficiency and Azoospermia in Carriers of a Homozygous PSMC3IP Stop Gain Mutation
The evolving genetic risk for sporadic ALS
Extremely low-coverage whole genome sequencing in South Asians captures population genomics information
POLR2C Mutations Are Associated With Primary Ovarian Insufficiency in Women
The Simons Genome Diversity Project: 300 genomes from 142 diverse populations
PADRE: Pedigree-Aware Distant-Relationship Estimation
Global diversity, population stratification, and selection of human copy-number variation
Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry
The heritability of gestational age in a two-million member cohort: implications for spontaneous preterm birth
Adaptive genetic changes related to haemoglobin concentration in native high‐altitude Tibetans
Targeted Capture of Phylogenetically Informative Ves SINE Insertions in Genus Myotis
A genetic mechanism for Tibetan high-altitude adaptation
The Y-Chromosome Tree Bursts into Leaf: 13,000 High-Confidence SNPs Covering the Majority of Known Clades
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