Ann Seman

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

Carol J. Saunders, E. Zackai, G. Cooper, 2020, European Journal of Human Genetics.

Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield

Yiping Shen, David T. Miller, J. Stoler, 2014, BMC Genomics.

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

L. Vissers, E. Zackai, D. Nickerson, 2019, Brain : a journal of neurology.

Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects.

C. Lelliott, B. Yalcin, P. Grant, 2020, American journal of human genetics.

Novel loss‐of‐function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures

A. Barkovich, J. Stoler, G. Mochida, 2016, American journal of medical genetics. Part A.