D
David Kronn
Researcher at New York Medical College
Publications - 55
Citations - 2165
David Kronn is an academic researcher from New York Medical College. The author has contributed to research in topics: Newborn screening & Alglucosidase alfa. The author has an hindex of 21, co-authored 50 publications receiving 1884 citations. Previous affiliations of David Kronn include University of Pittsburgh & Westchester Medical Center.
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Journal ArticleDOI
MeCP2 mutations in children with and without the phenotype of Rett syndrome
Kristen C. Hoffbuhr,Joseph M. Devaney,Bonnie LaFleur,N Sirianni,C Scacheri,James M. Giron,J Schuette,J Innis,Michael A. Marino,Michel Philippart,Vinodh Narayanan,R Umansky,David Kronn,Eric P. Hoffman,Sakku Bai Naidu +14 more
TL;DR: This patient series confirms the high frequency of MeCP2gene mutations causative of RTT in females and provides data concerning the molecular basis for clinical variability (mutation type and position and X-inactivation patterns).
Journal ArticleDOI
Schwannomatosis A clinical and pathologic study
TL;DR: It is concluded that patients with multipleSchwannomas, who do not have vestibular schwannoma, comprise a distinct clinical problem, but further molecular genetic analysis is needed to define the pathophysiology of this disorder.
Journal ArticleDOI
Newborn screening for Krabbe disease: the New York State model.
Patricia K. Duffner,Michele Caggana,Joseph J. Orsini,David A. Wenger,Marc C. Patterson,Carl J. Crosley,Joanne Kurtzberg,Georgianne L. Arnold,Maria L. Escolar,Darius J. Adams,Mary R. Andriola,Alan M. Aron,Emma Ciafaloni,Alexandra Djukic,Richard W. Erbe,Patricia Galvin-Parton,Laura Helton,Edwin H. Kolodny,Barry E. Kosofsky,David Kronn,Jennifer M. Kwon,Paul A. Levy,Jill Miller-Horn,Thomas P. Naidich,Joan E. Pellegrino,James M. Provenzale,James M. Provenzale,Stanley J. Rothman,Melissa P. Wasserstein +28 more
TL;DR: This multidisciplinary standardized approach to evaluating infants who have positive results on newborn screening may serve as a model for other states as they begin the process of screening for Krabbe disease and other lysosomal storage disorders.
Journal ArticleDOI
Molecular analysis of the NF2 tumor-suppressor gene in schwannomatosis.
Lee B. Jacoby,Deborah Jones,Kevin Davis,David Kronn,M. Priscilla Short,James F. Gusella,Mia MacCollin +6 more
TL;DR: Examination of multiple tumors from the same patient revealed that some schwannomatosis patients are somatic mosaics for NF2-gene changes, and other individuals appear to have an inherited predisposition to formation of tumors that carry somatic alterations of the NF2 gene.
Journal ArticleDOI
Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.
Ludwine Messiaen,S. Yao,Hilde Brems,Tom Callens,Achara Sathienkijkanchai,Ellen Denayer,Emily Spencer,Pamela Arn,Dusica Babovic-Vuksanovic,Carolyn Bay,Gary Bobele,Bruce H. Cohen,Luis F. Escobar,Deborah L. Eunpu,Theresa A. Grebe,Robert M. Greenstein,Rachel K. Hachen,Mira Irons,David Kronn,Edmond G. Lemire,Kathleen A. Leppig,Cynthia Lim,Marie T. McDonald,Vinodh Narayanan,Amy Pearn,Robert Pedersen,Berkley R. Powell,Lawrence R. Shapiro,David Skidmore,David Tegay,Heidi Thiese,Elaine H. Zackai,Raymon Vijzelaar,Koji Taniguchi,Koji Taniguchi,Toranoshin Ayada,Fuyuki Okamoto,Akihiko Yoshimura,Akihiko Yoshimura,Annabel H. A. Parret,Bruce R. Korf,Eric Legius +41 more
TL;DR: A high SPRED1 mutation detection rate was found in NF1 mutation-negative families with an autosomal dominant phenotype of CALMs with or without freckling and no other NF1 features, and NFLS was not associated with the peripheral and central nervous system tumors seen inNF1.