Velibor Tasić

Mutations in GANAB , Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease

Binu Porath, Vladimir G. Gainullin, Émilie Cornec-Le Gall et al. · The American Journal of Human Genetics · 2016 · 469 citations · Full text

Medicine, Genetics, Molecular Genetics +14

<i>TBX6</i> Null Variants and a Common Hypomorphic Allele in Congenital Scoliosis

Nan Wu, Jianqiu Xiao, Zhihong Wu et al. · New England Journal of Medicine · 2015 · 314 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Clinical delineation and natural history of the <i>PIK3CA</i>‐related overgrowth spectrum

Kim M. Keppler‐Noreuil, Julie C. Sapp, Marjorie J. Lindhurst et al. · American Journal of Medical Genetics Part A · 2014 · 312 citations · Full text

Medicine, Pathology, Pediatrics +16

Novel Paracellin-1 Mutations in 25 Families with Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis

Stefanie Weber, Linda Schneider, Melanie Peters et al. · Journal of the American Society of Nephrology · 2001 · 271 citations

Medicine, Genetics, Nephrology +16

Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract

Daw‐Yang Hwang, Gabriel C. Dworschak, Stefan Kohl et al. · Kidney International · 2014 · 262 citations · Full text

Medicine, Genetics, Molecular Genetics +17