PaigeBKaplanMD

Clinical Biochemical Genetics, Clinical Genetics

Physician

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Office
3401 Civic Center Blvd
Childrens Hospital of Philadelphia Metabolism
Philadelphia, PA 19104
Phone+1 215-590-3376

Fax+1 215-590-4297

PubMed

Perspectives on the evolution of genetic counselling: Experience over three decades in a family with recurrent lethal osteogenesis imperfecta
C. Bascunana, J. El Helou, Frank Rauch, Ghalib Bardai, Francis H. Glorieux
Molecular Genetics and Metabolism. 2020-07-08
43 citations
Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.
Brett V. Johnson, Raman Kumar, Sabrina Oishi, Suzy Alexander, Maria Kasherman
Biological Psychiatry. 2020-01-15
25 citations
The ubiquitin ligase UBE3B, disrupted in intellectual disability and absent speech, regulates metabolic pathways by targeting BCKDK
Solmi Cheon, Kiran J Kaur, Nadine Nijem, Islam Oguz Tuncay, Pooja Kumar
Proceedings of the National Academy of Sciences of the United States of America. 2019-02-26

Journal Articles

Variable Clinical Manifestations of Xia‐Gibbs Syndrome: Findings of Consecutively Identified Cases at a Single Children's Hospital
Carey McDougall, Elaine H Zackai, Paige Kaplan, Kosuke Izumi, Emma C Bedoukian, Stephanie B Asher, Livija Medne, Ian D Krantz, American Journal of Medical Genetics Part A