Shane C. Quinonez

The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis

Karin Weiss, Hayley P. Lazar, Alina Kurolap et al. · Genetics in Medicine · 2019 · 97 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +7

SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals

Bobby G. Ng, Paulina Sosicka, Satish Agadi et al. · Human Mutation · 2019 · 62 citations · Full text

Immunology, Glycobiology, Molecular Biology +25

Leigh Syndrome in a Girl With a Novel DLD Mutation Causing E3 Deficiency

Shane C. Quinonez, Steven M. Leber, Donna M. Martin et al. · Pediatric Neurology · 2013 · 44 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +5

A new POT1 germline mutation—expanding the spectrum of POT1-associated cancers

Tremika L.S. Wilson, Namita G. Hattangady, Antônio Marcondes Lerário et al. · Familial Cancer · 2017 · 42 citations

Tumor Biology, Engineering, New Pot1 Germline +7

Maternal intrachromosomal insertional translocation leads to recurrent 1q21.3q23.3 deletion in two siblings

Shane C. Quinonez, Peter Hedera, Mason Barr et al. · American Journal of Medical Genetics Part A · 2012 · 39 citations