Area of research
Genetics · Pediatrics, Perinatology and Child Health
Research interest
Research interests include Genetic Associations and Epidemiology, Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities, Prenatal Screening and Diagnostics, and Pregnancy and preeclampsia studies.
Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits
Toward clinical exomes in diagnostics and management of male infertility
Undiagnosed RASopathies in infertile men
DDX3Y is likely the key spermatogenic factor in the AZFa region that contributes to human non-obstructive azoospermia
Genome sequencing of Pakistani families with male infertility identifies deleterious genotypes in <i>SPAG6</i>, <i>CCDC9</i>, <i>TKTL1</i>, <i>TUBA3C</i>, and <i>M1AP</i>
A de novo paradigm for male infertility
Diverse monogenic subforms of human spermatogenic failure
Actionable secondary findings following exome sequencing of 836 non-obstructive azoospermia cases and their value in patient management
Bi-allelic Recessive Loss-of-Function Variants in FANCM Cause Non-obstructive Azoospermia
Gene-Age Interactions in Blood Pressure Regulation: A Large-Scale Investigation with the CHARGE, Global BPgen, and ICBP Consortia