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Patient Offices

Address
Atran Building
1st floor
New York City, NY 10029
Tel
212-241-6947
Fax
212-860-3316
Office Hours
Monday 9:00 AM - 5:00 PM
Tuesday 9:00 AM - 5:00 PM
Wednesday 9:00 AM - 5:00 PM
Thursday 9:00 AM - 5:00 PM
Friday 9:00 AM - 5:00 PM
Disabled Access
Yes

Business Offices

Address
Atran Berg Laboratory Building Floor 1 Room AB1-43
1428 Madison Avenue
New York, NY 10029
Tel
212-241-1481

Judith P. Willner

ASSOCIATE CLINICAL PROFESSOR  Genetics and Genomic Sciences
ASSOCIATE CLINICAL PROFESSOR  Pediatrics
ASSOCIATE CLINICAL PROFESSOR  Obstetrics, Gynecology and Reproductive Science

Overview

Specialty Clinical Genetics - MD , Pediatrics
Clinical Interests Prenatal Diagnosis
  Dysmorphology
Languages English
  Spanish
Gender Female
E-mail judith.willner@mssm.edu
Education and Training MD, New York University
  Residency, Pediatrics, Children's Hosp. Natl. Medical Ctr.
  Fellowship, Medical Genetics, Mount Sinai Hospital

Training

Education and Training MD, New York University
  Residency, Pediatrics, Children's Hosp. Natl. Medical Ctr.
  Fellowship, Medical Genetics, Mount Sinai Hospital
Board Certification Clinical Genetics - MD
  Pediatrics

Clinical Practice

Specialty Clinical Genetics - MD , Pediatrics
Clinical Interests Prenatal Diagnosis
  Dysmorphology
Languages English
  Spanish
Board Certification Clinical Genetics - MD
  Pediatrics

Research

The research of the clinical section of the Department of Human Genetics is directed towards the identification of newly recognized genetic disorders and the further delineation of previously described conditions. A focus of our research has been on the group of lysosomal disorders found among Jews of Ashkenazi descent or so-called "Jewish genetic diseases" which include Tay-Sachs diseases, Gaucher disease and Niemann-Pick disease. Another lysosomal disease, Fabry disease is also a major research interest.

Publications

Sheen VL, Walsh CA, Chen MH, Parrini E, Ravenscroft R, Ganesh V, Underwood T, Wiley J, Leventer R, Vaid RR, Ruiz DE, Hutchins GM, Menasha J, Willner J, Geng Y, Gripp KW, Nicholson L, Berry-Kravis E, Bodell A, Apse K, Hill RS, Dubeau F, Andermann F, Berkovich J, Anermann E, Shugart YY, Thomas P, Viri M, Veggiotti P, Robertson S, Guerrini R, Jansen A. Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome. Neurology 2005 January; 64(2): 254-262.


Shin HT, Paller A, Orlow SJ, Willner JP, Chang MW, Hoganson G. Infantile systemic hyalinosis. J Am Acad Dermatol 2004 Feb; 50(2Suppl): 61-64.


Ness SL, Ben-Yosef T, Bar-Lev A, Madeo AC, Brewer CC, Griffith AJ, Kornreich R, Desnick RJ, Willner JP, Friedman TB, Avraham KB. Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III. J Med Genet 2003; 40(10): 762-772.


Ahmed Z, Avraham KB, Bar-Lev A, Ben-Yosef T, Desnick RJ, Friedman TB, Wolfman JH, Madeo AC, Ness S, Oddoux C, Ostrer H, Willner J, Griffith AJ. A prevalent founder mutation of PCDH15 among deaf-blind Ashkenazi Jews with Usher syndrome type 1. New. Eng. J. Med 2003 April; 348(17): 1664-1670.


Tegay DH, Willner JP, Tepper R. 6-mercaptopurine teratogenicity. Postgrad Med J 2002 September; 78(923): 572.


Institutes, Centers, Programs and Laboratories

The Mount Sinai Medical Center is home to an extensive array of top-notch research centers and laboratories, where scientists and researchers work to translate the rapid advances in basic science into the innovative patient care for which we are known.

Clinical Trials

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