Sara Halbach

RAD21 Mutations Cause a Human Cohesinopathy

Matthew A. Deardorff, Jonathan J. Wilde, Melanie Albrecht et al. · The American Journal of Human Genetics · 2012 · 270 citations · Full text

Life Sciences, Genetics, Molecular Biology +10

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant

David A. Koolen, Rolph Pfundt, Katrin Linda et al. · European Journal of Human Genetics · 2015 · 190 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder

Sureni V. Mullegama, Jill A. Rosenfeld, Carmen Orellana et al. · European Journal of Human Genetics · 2013 · 86 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals

Kai Lee Yap, Amy E. Knight Johnson, David S. Fischer et al. · Genetics in Medicine · 2018 · 65 citations · Full text

Life Sciences, Endocrinology, Genetics +10

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

Christopher Chun Yu Mak, Dan Doherty, Angela E. Lin et al. · Brain · 2019 · 54 citations · Full text

Medicine, Genetics, Molecular Genetics +17