LauraLeeKonczalMD

Clinical Genetics, Medical Biochemical Genetics

Physician

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Office
11100 Euclid Ave
Cleveland, OH 44106
Phone+1 216-844-1000

Fax+1 216-844-7497

Nationwide Children's Hospital/Ohio State UniversityResidency, Medical Genetics and Genomics, 2006 - 2008
Nationwide Children's Hospital/Ohio State UniversityResidency, Pediatrics, 2003 - 2006
Wright State University Boonshoft School of MedicineClass of 2003

PubMed

126 citations
Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus
Gea Beunders, Els Voorhoeve, Christelle Golzio, Luba M. Pardo, Jill A. Rosenfeld
American Journal of Human Genetics. 2013-02-07
6 citations
Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both?
Alessandra Pennisi, Agnès Rötig, Charles-Joris Roux, Raphael Levy, Marco Henneke
Journal of Medical Genetics. 2020-11-15
8 citations
Long-term preservation of intellectual functioning in sapropterin-treated infants and young children with phenylketonuria: A seven-year analysis.
Susan E. Waisbren, Barbara K. Burton, Annette Feigenbaum, Laura Konczal, Joshua Lilienstein
Molecular Genetics and Metabolism. 2021-01-13