Daniela N. Schweitzer

Microdeletion 20p12.3 involving <i>BMP2</i> contributes to syndromic forms of cleft palate

Trilochan Sahoo, Aaron Theisen, Pedro A. Sanchez‐Lara et al. · American Journal of Medical Genetics Part A · 2011 · 83 citations · Full text

Dentistry, Genetics, Molecular Genetics +16

Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3

Daniela N. Schweitzer, John M. Graham, Ralph S. Lachman et al. · American Journal of Medical Genetics · 2000 · 57 citations

Dentistry, Genetics, Molecular Genetics +17

van den Ende–Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures: Clinical delineation and recurrence in brothers

Daniela N. Schweitzer, Ralph S. Lachman, Barry D. Pressman et al. · American Journal of Medical Genetics Part A · 2002 · 27 citations

Life Sciences, Genetics, Craniofacial Genetics +12

LHX2 haploinsufficiency causes a variable neurodevelopmental disorder

Cosima M. Schmid, Anne Gregor, Gregory Costain et al. · Genetics in Medicine · 2023 · 19 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Novel variants in <i>KAT6B</i> spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms

Megan Yabumoto, Jessica Kianmahd, Meghna Singh et al. · Molecular Genetics & Genomic Medicine · 2021 · 14 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12