Hailey Pinz

De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies

Konrad Platzer, Heinrich Sticht, Stacey L. Edwards et al. · The American Journal of Human Genetics · 2019 · 75 citations · Full text

Allelic Variant, Variable Brain Anomalies, Genetic Disorder +9

Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms

Caroline F. Wright, Nicholas M. Quaife, Laura Ramos-Hernández et al. · The American Journal of Human Genetics · 2021 · 74 citations · Full text

Distinct Loss-of-function Mechanisms, Molecular Neuroscience, Developmental Biology +6

Natural history and genotype‐phenotype correlations in 72 individuals with <i>SATB2</i>‐associated syndrome

Yuri A. Zárate, Constance Smith‐Hicks, Carol L. Greene et al. · American Journal of Medical Genetics Part A · 2018 · 73 citations

De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies

Hailey Pinz, Louise C. Pyle, Dong Li et al. · American Journal of Medical Genetics Part A · 2018 · 56 citations

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism

Maya Chopra, Meriel McEntagart, Jill Clayton‐Smith et al. · The American Journal of Human Genetics · 2021 · 36 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +7