JudithPleasureWillnerMD

PubMed

• 224 citations
  Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency.
  Latha Soorya, Alexander Kolevzon, Jessica Zweifach, Teresa Lim, Yuriy Dobry, Lily Schwartz, Yitzchak Frank, A. Ting Wang, Guiqing Cai, Elena Parkhomenko, Danielle Halp...> ;Molecular Autism. 2013 Jun 11
• 25 citations
  Analysis of a purported SHANK3 mutation in a boy with autism: clinical impact of rare variant research in neurodevelopmental disabilities.
  Alexander Kolevzon, Guiqing Cai, Latha Soorya, Nagahide Takahashi, David Grodberg, Yuji Kajiwara, Judith P. Willner, Ana Tryfon, Joseph D. Buxbaum> ;Brain Research. 2011 Mar 22
• 12 citations
  Choroideremia in a woman with ectodermal dysplasia and complex translocations involving chromosomes X, 1, and 3.
  Krishna Mukkamala, Ronald C. Gentile, Judith P. Willner> ;Ophthalmic Genetics. 2010 Nov 11
• 12 citations
  Mosaicism for a small supernumerary ring X chromosome in a dysmorphic, growth‐retarded male: mos47,XXY/48,XXY, + r(X)
  Susan R. Manea, Irina F. Gershin, Arvind Babu, Judith P. Willner, Robert J. Desnick, Philip D. Cotter> ;Clinical Genetics. 2008 Jun 28
• 254 citations
  Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita.
  Blanche P. Alter, Gabriela M. Baerlocher, Sharon A. Savage, Stephen J. Chanock, Babette B. Weksler, Judith P. Willner, June A. Peters, Neelam Giri, Peter M. Lansdorp> ;Blood. 2007 Sep 1
• 141 citations
  Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome
  Volney L. Sheen, Anna Jansen, Ming-Hui Chen, Elena Parrini, Timothy R. Morgan, R. Ravenscroft, Vijay S. Ganesh, T. Underwood, James S. Wiley, Richard J. Leventer, R. R...> ;Neurology. 2005 Jan 25
• 30 citations
  Infantile systemic hyalinosis
  Helen T. Shin, Amy S. Paller, George E. Hoganson, Judith P. Willner, Mary Wu Chang, Seth J. Orlow> ;Journal of the American Academy of Dermatology. 2004 Feb 1
• 83 citations
  Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III
  Seth L. Ness, Tamar Ben-Yosef, A Bar-Lev, Anne C. Madeo, Carmen C. Brewer, Karen B. Avraham, Ruth Kornreich, Robert J. Desnick, Judith P. Willner, Thomas B. Friedman, ...> ;Journal of Medical Genetics. 2003 Oct 1
• 73 citations
  A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome.
  Tamar Ben-Yosef, Seth L. Ness, Anne C. Madeo, Adi Bar-Lev, Jessica H. Wolfman, Zubair M. Ahmed, Robert J. Desnick, Judith P. Willner, Karen B. Avraham, Harry Ostrer, C...> ;The New England Journal of Medicine. 2003 Apr 24
• 62 citations
  Identical Mitochondrial DNA Deletion in a Woman with Ocular Myopathy and in Her Son with Pearson Syndrome
  Sara Shanske, Yingying Tang, Michio Hirano, Yutaka Nishigaki, Kurenai Tanji, Eduardo Bonilla, Carolyn M. Sue, Sindu Krishna, Jose Carlo, Judith P. Willner, Eric A. Sch...> ;American Journal of Human Genetics. 2002 Sep 1
• 13 citations
  Long-term follow-up of corneal graft survival following bone marrow transplantation in the Maroteaux-Lamy syndrome.
  Uçakhan Oo, Scott E. Brodie, Robert J. Desnick, Judith P. Willner, Penny A. Asbell> ;The CLAO Journal. 2001 Oct 1
• 12 citations
  Prenatal diagnosis of trisomy 4 mosaicism
  Ann-Leslie Zaslav, Donna Blumenthal, Judith P. Willner, Guy Pierno, Jesse Jacob, Joyce E. Fox> ;American Journal of Medical Genetics. 2000 Dec 11
• 2 citations
  Genetic evaluation and counseling in head and neck syndromes.
  Judith P. Willner> ;Otolaryngologic Clinics of North America. 2000 Dec 1
• 42 citations
  Genetic testing: a physician's perspective.
  Joshua D. Menasha, Clyde B. Schechter, Judith P. Willner> ;The Mount Sinai Journal of Medicine, New York. 2000 Mar 1
• 19 citations
  Familial patent ductus arteriosus and bicuspid aortic valve with hand anomalies: a novel heart-hand syndrome.
  Bruce D. Gelb, Jian Zhang, Robert J. Sommer, Jared M. Wasserman, Milton J. Reitman, Judith P. Willner> ;American Journal of Medical Genetics. 1999 Nov 19
• 1 citations
  Prenatal diagnosis and outcome of mosaicism for a de novo unbalanced translocation identified in amniocytes
  Philip D. Cotter, Arvind Babu, Judith P. Willner, Robert J. Desnick> ;Prenatal Diagnosis. 1998 Aug 1
• 2 citations
  Reproductive genetics and today's patient options: prenatal diagnosis.
  Judith P. Willner> ;The Mount Sinai Journal of Medicine, New York. 1998 May 1
• 58 citations
  Paternal Uniparental Disomy for Chromosome 1 Revealed by Molecular Analysis of a Patient with Pycnodysostosis
  Bruce D. Gelb, Judith P. Willner, Teresa M. Dunn, Nataline B. Kardon, Alain Verloes, Jacques Poncin, Robert J. Desnick> ;American Journal of Human Genetics. 1998 Apr 1
• 4 citations
  Prenatal diagnosis of a familial interchromosomal insertion of Y chromosome heterochromatin.
  Patricia Ashton-Prolla, Irina F. Gershin, Arvind Babu, Richard L. Neu, Randi E. Zinberg, Judith P. Willner, Robert J. Desnick, Philip D. Cotter> ;American Journal of Medical Genetics. 1997 Dec 31
• 15 citations
  Prenatal detection and molecular characterization of a de novo duplication of the distal long arm of chromosome 19
  Philip D. Cotter, Leslie D. McCurdy, Irina F. Gershin, Arvind Babu, Judith P. Willner, Robert J. Desnick> ;American Journal of Medical Genetics. 1997 Aug 22
• 83 citations
  Paternal uniparental disomy for chromosome 14: A case report and review
  Philip D. Cotter, Sara Kaffe, Leslie D. McCurdy, Meenakshi Jhaveri, Judith P. Willner, Kurt Hirschhorn> ;American Journal of Medical Genetics. 1997 May 2
• 4 citations
  Homozygosity for pericentric inversions of chromosome 9 : Prenatal diagnosis of two cases
  Philip D. Cotter, Arvind Babu, Leslie D. McCurdy, Michele Caggana, Judith P. Willner, Robert J. Desnick> ;Annales De Genetique. 1997 Jan 1
• 7 citations
  Prenatal diagnosis of a fetus with two balanced de novo chromosome rearrangements
  Philip D. Cotter, Michele Caggana, Judith P. Willner, Arvind Babu, Robert J. Desnick> ;American Journal of Medical Genetics. 1996 Dec 11
• 90 citations
  Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G)
  Gregory M. Pastores, Filippo M. Santorelli, Sara Shanske, Bruce D. Gelb, Billie Fyfe, David Wolfe, Judith P. Willner> ;American Journal of Medical Genetics. 1994 Apr 15
• 11 citations
  Prenatal detection of monosomy 21 mosaicism.
  Alessandro Ghidini, Shari Fallet, Jane Robinowitz, Charles J. Lockwood, Renate Dische, Judith P. Willner> ;Prenatal Diagnosis. 1993 Mar 1
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