Siddaramappa J. Patil

22q11.2 deletion syndrome in diverse populations

Paul Kruszka, Yonit A. Addissie, Daniel E. McGinn et al. · American Journal of Medical Genetics Part A · 2017 · 165 citations · Full text

Ethnicity, Genetics, Genetic Epidemiology +19

Noonan syndrome in diverse populations

Paul Kruszka, Antonio R. Porras, Yonit A. Addissie et al. · American Journal of Medical Genetics Part A · 2017 · 89 citations · Full text

Microduplications encompassing the Sonic hedgehog limb enhancer <scp>ZRS</scp> are associated with Haas‐type polysyndactyly and Laurin‐Sandrow syndrome

Silke B. Lohan, Malte Spielmann, Sandra C. Doelken et al. · Clinical Genetics · 2014 · 64 citations · Full text

Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism

Joshi Stephen, Sateesh Maddirevula, Sheela Nampoothiri et al. · The American Journal of Human Genetics · 2018 · 28 citations · Full text

Neurodevelopmental Delay, Allelic Variant, Developmental Biology +8

Turner syndrome in diverse populations

Paul Kruszka, Yonit A. Addissie, Cedrik Tekendo‐Ngongang et al. · American Journal of Medical Genetics Part A · 2019 · 25 citations · Full text

Developmental Anomaly, Short Stature, Genetic Disorder +14