Maureen Bocian

Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia

Rita Shiang, Leslie M. Thompson, Yazhen Zhu et al. · Cell · 1994 · 1.3K citations

Biology, Mendelian Disorder, Genetic Disorder +8

Head circumference and height in autism: A study by the collaborative program of excellence in autism

Janet E. Lainhart, Erin D. Bigler, Maureen Bocian et al. · American Journal of Medical Genetics Part A · 2006 · 376 citations · Full text

The Mutational Spectrum of the Sonic Hedgehog Gene in Holoprosencephaly: SHH Mutations Cause a Significant Proportion of Autosomal Dominant Holoprosencephaly

Luisa Nanni, Jeffrey E. Ming, Maureen Bocian et al. · Human Molecular Genetics · 1999 · 359 citations · Full text

De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay

Jessica X. Chong, Margaret J. McMillin, Kathryn M. Shively et al. · The American Journal of Human Genetics · 2015 · 156 citations · Full text

Developmental Anomaly, Clinical Disorders, Developmental Biology +8

Mitochondrial dysfunction in autistic patients with 15q inverted duplication

Pauline A. Filipek, Jenifer Juranek, Moyra Smith et al. · Annals of Neurology · 2003 · 152 citations · Full text

Mendelian Disorder, Mitochondrial Function, Mitochondrial Dysfunction +12