Ankur Singh

Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients

Gijs W.E. Santen, Emmelien Aten, Anneke T. Vulto‐van Silfhout et al. · Human Mutation · 2013 · 214 citations

Genetics, Genetic Epidemiology, Pathology +20

Expanding the phenome and variome of skeletal dysplasia

Sateesh Maddirevula, Saud Alsahli, Lamees Alhabeeb et al. · Genetics in Medicine · 2018 · 69 citations · Full text

Developmental Biology, Bone Morphogenic Protein, Distraction Osteogenesis +7

Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders

Elizabeth J. Leslie, James O’Sullivan, Michael L. Cunningham et al. · American Journal of Medical Genetics Part A · 2015 · 49 citations · Full text

Identification of a novel MKS locus defined by<i>TMEM107</i>mutation

Ranad Shaheen, Agaadir Almoisheer, Eissa Faqeih et al. · Human Molecular Genetics · 2015 · 41 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +12

Toll-like receptor 3 (TLR-3), TLR-4 and CD80 expression in peripheral blood mononuclear cells and urinary CD80 levels in children with idiopathic nephrotic syndrome

Om P. Mishra, Ravindra Kumar, Gopeshwar Narayan et al. · Pediatric Nephrology · 2017 · 33 citations

Inflammation, Glomerulonephritis, Glomerular Disease +12