Pedro A. Sanchez‐Lara

NOTCH2 Mutations Cause Alagille Syndrome, a Heterogeneous Disorder of the Notch Signaling Pathway

Ryan M. McDaniell, Daniel M. Warthen, Pedro A. Sanchez‐Lara et al. · The American Journal of Human Genetics · 2006 · 743 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity

Gisele E. Ishak, Jennifer C. Dempsey, Dennis Shaw et al. · Brain · 2012 · 151 citations · Full text

Medicine, Neuroscience, Neuroanatomy +16

A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9

Cristina M. Justice, Garima Yagnik, Yoonhee Kim et al. · Nature Genetics · 2012 · 140 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations

Alexandra Gkourogianni, Melissa Andrew, Leah Tyzinski et al. · The Journal of Clinical Endocrinology & Metabolism · 2016 · 135 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Neuroimaging findings in macrocephaly–capillary malformation: A longitudinal study of 17 patients

Robert L. Conway, Barry D. Pressman, William B. Dobyns et al. · American Journal of Medical Genetics Part A · 2007 · 119 citations · Full text

Medicine, Neurology, Radiology +16