Hiba Risheg

Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay

Rachel D. Burnside, Romela Pasion, Fady M. Mikhail et al. · Human Genetics · 2011 · 251 citations · Full text

Neurodevelopmental Disorders, Molecular Neuroscience, Proximal 15Q11.2 +11

UPD detection using homozygosity profiling with a SNP genotyping microarray

Peter Papenhausen, Stuart Schwartz, Hiba Risheg et al. · American Journal of Medical Genetics Part A · 2011 · 200 citations

Single Chromosome, Genetic Testing, Single Nucleotide Polymorphism +20

A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome

Hiba Risheg, John M. Graham, Robin D. Clark et al. · Nature Genetics · 2007 · 192 citations

Recurrent Mutation, Genetic Disorder, Genetics +4

6q25.1 (<i>TAB2</i>) microdeletion syndrome: Congenital heart defects and cardiomyopathy

Andrew Cheng, Mary Beth Dinulos, Whitney Neufeld‐Kaiser et al. · American Journal of Medical Genetics Part A · 2017 · 60 citations

Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype

Rachel D. Burnside, John Pappas, Stephanie Sacharow et al. · American Journal of Medical Genetics Part A · 2013 · 56 citations