Area of research
Genetics · Obstetrics and Gynecology
Research interest
Research focused on Genetics and Genome-wide association study, with related work in Intellectual disability, Computational biology, Endometriosis. Notable publications include 'Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries', 'Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration', and 'Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus'.
Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly
Chromosomal structural rearrangements implicate long non-coding RNAs in rare germline disorders
Long-term health-related quality of life and symptom severity following hysterectomy, myomectomy, or uterine artery embolization for the treatment of symptomatic uterine fibroids
Genome-wide association study meta-analysis of dizygotic twinning illuminates genetic regulation of female fecundity
Genome-wide association meta-analysis identifies 48 risk variants and highlights the role of the stria vascularis in hearing loss
Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss
A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing
GWAS Identifies 44 Independent Associated Genomic Loci for Self-Reported Adult Hearing Difficulty in UK Biobank
Genome-wide association and epidemiological analyses reveal common genetic origins between uterine leiomyomata and endometriosis
Low-pass genome sequencing versus chromosomal microarray analysis: implementation in prenatal diagnosis
Concurrent Hearing and Genetic Screening of 180,469 Neonates with Follow-up in Beijing, China
Genome Sequencing Explores Complexity of Chromosomal Abnormalities in Recurrent Miscarriage
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel
ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs
Automated typing of red blood cell and platelet antigens: a whole-genome sequencing study
Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements
A multi-stage genome-wide association study of uterine fibroids in African Americans
Screening of deafness-causing DNA variants that are common in patients of European ancestry using a microarray-based approach
Erratum to: A multi-stage genome-wide association study of uterine fibroids in African Americans
Recommendations for the integration of genomics into clinical practice
Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis
ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice
Implication of <i>LRRC4C</i> and <i>DPP6</i> in neurodevelopmental disorders
Section E6.5–6.8 of the ACMG technical standards and guidelines: chromosome studies of lymph node and solid tumor–acquired chromosomal abnormalities
MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus
Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus
Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate
Complex cytogenetic rearrangements at the <scp>DURS</scp>1 locus in syndromic Duane retraction syndrome