Genotypes and Phenotypes: A Search for Influential Genes in Diabetic Retinopathy

nork Cabrera, Andrea P., Mankad, Rushi N., Marek, Lauren, Das, Ryan, Rangasamy, Sampath, Monickaraj, Finny, Das, Arup
Argitaratua izan da Int J Mol Sci (2020)

A de novo SIX1 variant in a patient with a rare nonsyndromic cochleovestibular nerve abnormality, cochlear hypoplasia, and bilateral sensorineural hearing loss

nork Kari, Elina, Llaci, Lorida, Go, John L., Naymik, Marcus, Knowles, James A., Leal, Suzanne M., Rangasamy, Sampath, Huentelman, Matthew J., Friedman, Rick A., Schrauwen, Isabelle
Argitaratua izan da Mol Genet Genomic Med (2019)

Genes Implicated in Rare Congenital Inner Ear and Cochleovestibular Nerve Malformations

nork Kari, Elina, Llaci, Lorida, Go, John L., Naymik, Marcus, Knowles, James A., Leal, Suzanne M., Rangasamy, Sampath, Huentelman, Matthew J., Liang, Winnie, Friedman, Rick A., Schrauwen, Isabelle
Argitaratua izan da Ear Hear (2020)

De Novo Variant in KIF26B isAssociated with Pontocerebellar Hypoplasia with Infantile Spinal Muscular Atrophy

nork Wojcik, Monica H., Okada, Kyoko, Prabhu, Sanjay P., Nowakowski, Dan W., Ramsey, Keri, Balak, Chris, Rangasamy, Sampath, Brownstein, Catherine A., Schmitz-Abe, Klaus, Cohen, Julie S, Fatemi, Ali, Shi, Jiahai, Grant, Ellen P., Narayanan, Vinodh, Ho, Hsin-Yi Henry, Agrawal, Pankaj B.
Argitaratua izan da Am J Med Genet A (2018)

A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia

nork Moskowitz, Abby M., Belnap, Newell, Siniard, Ashley L., Szelinger, Szabolcs, Claasen, Ana M., Richholt, Ryan F., De Both, Matt, Corneveaux, Jason J., Balak, Chris, Piras, Ignazio S., Russell, Megan, Courtright, Amanda L., Rangasamy, Sampath, Ramsey, Keri, Craig, David W., Narayanan, Vinodh, Huentelman, Matt J., Schrauwen, Isabelle
Argitaratua izan da Cold Spring Harb Mol Case Stud (2016)