JoyMSamanichMD

PubMed

• 5 citations
  Erratum: A novel C-terminal CIB2 (Calcium and Integrin Binding Protein 2) mutation associated with non-syndromic hearing loss in a hispanic family (PLoS ONE (2015) 10:...
  Kunjan Patel, Arnaud P. J. Giese, Jonathan M Grossheim, Rashmi S. Hegde, Maria Delio, Joy Samanich, Saima Riazuddin, Gregory I. Frolenkov, Jinlu Cai, Zubair Ahmed, Ber...> ;Plos One. 2015 Oct 16
• 4 citations
  Interstitial duplication of 22q13.2 in a girl with short stature, impaired speech and language, and dysmorphism.
  Joy Samanich, Cristina Montagna, Bernice E. Morrow, Melanie Babcock> ;Journal of Pediatric Genetics. 2015 Jul 27
• 90 citations
  Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin
  Kosuke Izumi, Ryuichiro Nakato, Zhe Zhang, Andrew C. Edmondson, Sarah E. Noon, Matthew C. Dulik, Ramkakrishnan Rajagopalan, Charles P. Venditti, Karen W. Gripp, Joy Sa...> ;Nature Genetics. 2015 Apr 1
• 10 citations
  A Novel C-Terminal CIB2 (Calcium and Integrin Binding Protein 2) Mutation Associated with Non-Syndromic Hearing Loss in a Hispanic Family.
  Kunjan Patel, Arnaud P Giese, J M Grossheim, Rashmi S Hegde, Rashima S Hegde, Maria Delio, Joy Samanich, Saima Riazuddin, Gregory I Frolenkov, Jinlu Cai, Zubair M Ahme...> ;Plos One. 2015 Jan 1
• 14 citations
  A de novo 10.79 Mb interstitial deletion at 2q13q14.2 involving PAX8 causing hypothyroidism and mullerian agenesis: a novel case report and literature review.
  Deqiong Ma, Robert W. Marion, Netra Prasad Punjabi, Elaine Pereira, Joy M. Samanich, Chhavi Agarwal, Jianli Li, Chih Kang Huang, K. H. Ramesh, Linda A. Cannizzaro, Riz...> ;Molecular Cytogenetics. 2014 Nov 26
• 110 citations
  Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and DiGeorge Syndromes
  Maria Delio, Tingwei Guo, Donna M. McDonald-McGinn, Elaine H. Zackai, Sean Herman, Mark Kaminetzky, Anne Marie Higgins, Karlene Coleman, Carolyn Chow, Maria Jarlbrzkow...> ;American Journal of Human Genetics. 2013 Mar 7
• 10 citations
  Severe osteopathia striata with cranial sclerosis in a female case with whole WTX gene deletion
  Sean B. Herman, Sarah K. Holman, Stephen P. Robertson, Lynn Davidson, Benjamin H. Taragin, Joy Samanich> ;American Journal of Medical Genetics. Part A. 2013 Mar 1
• 22 citations
  Osteopathia striata congenita with cranial sclerosis and intellectual disability due to contiguous gene deletions involving the WTX locus
  Sarah K. Holman, Timothy R. Morgan, Geneviève Baujat, Valérie Cormier-Daire, Tae Joon Cho, Melissa Lees, Joy Samanich, Dagmar Tapon, Hanne Hove, Anne V. Hing, Raoul C....> ;Clinical Genetics. 2013 Mar 1
• 16 citations
  Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams–Beuren syndrome
  Maria Delio, Kathleen Pope, Tao Wang, Joy Samanich, Chad R. Haldeman-Englert, Paige Kaplan, Tamim H. Shaikh, Jinlu Cai, Robert W. Marion, Bernice E. Morrow, Melanie Ba...> ;American Journal of Medical Genetics. Part A. 2013 Mar 1
• The clinical and genetic distinction between familial supravalvular aortic stenosis (Eisenberg syndrome) and Williams-Beuren syndrome.
  Joy Samanich, Terry L. Levin, Walter E. Berdon> ;Pediatric Radiology. 2012 Jul 29
• 5 citations
  Dextrocardia, atrial septal defect, severe developmental delay, facial anomalies, and supernumerary ribs in a child with a complex unbalanced 8;22 translocation includ...
  Kathleen Pope, Joy Samanich, K Ramesh, Linda Cannizzaro, Qiulu Pan, Melanie Babcock> ;American Journal of Medical Genetics. Part A. 2012 Mar 1
• 16 citations
  Agnathia–otocephaly complex: A case report and examination of the OTX2 and PRRX1 genes
  Sean Herman, Maria Delio, Bernice E. Morrow, Joy Samanich> ;Gene. 2012 Feb 15
• 2 citations
  17q12 Deletion in a patient with Williams syndrome: Case report and review of the literature.
  Lilian L. Cohen, Joy Samanich, Quilu Pan, Lakshmi Mehta, Robert W. Marion> ;Journal of Pediatric Genetics. 2012 Jan 1
• 15 citations
  A unique presentation of Wiskott-Aldrich syndrome in relation to platelet size.
  Payal D. Patel, Joy M. Samanich, William Beau Mitchell, Deepa Manwani> ;Pediatric Blood & Cancer. 2011 Jul 1
• 8 citations
  Molecular characterization of an interstitial deletion of 1p31.3 in a patient with obesity and psychiatric illness and a review of the literature
  Marilena Petti, Joy Samanich, Qiulu Pan, Chih Kang Huang, Jana Reinmund, Sadaf Farooqi, Bernice E. Morrow, Melanie Babcock> ;American Journal of Medical Genetics. Part A. 2011 Apr 1
• 17 citations
  Mutational analysis of HOXA2 and SIX2 in a Bronx population with isolated microtia.
  Dennis C. Monks, Arthee Jahangir, Alan L. Shanske, Joy Samanich, Bernice E. Morrow, Melanie Babcock> ;International Journal of Pediatric Otorhinolaryngology. 2010 Aug 1
• 19 citations
  GJB2 mutation spectrum in 209 hearing impaired individuals of predominantly Caribbean Hispanic and African descent
  Jidong Shan, Janie Chobot-Rodd, Raquel Castellanos, Melanie Babcock, Alan L. Shanske, Sanjay R. Parikh, Bernice E. Morrow, Joy Samanich> ;International Journal of Pediatric Otorhinolaryngology. 2010 Jun 1
• This issue: screening and testing: genetics.
  Joy Samanich> ;Pediatric Annals. 2009 Aug 1
• Health care supervision for twin pairs.
  Joy Samanich> ;American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 2009 May 15
• 6 citations
  Genetic evaluation of American minority pediatric cochlear implant recipients
  Tova C. Fischer, Joy Samanich, Bernice E. Morrow, Janie Chobot-Rodd, Alan L. Shanske, Sanjay R. Parikh> ;International Journal of Pediatric Otorhinolaryngology. 2009 Feb 1
• 45 citations
  Mutations in GJB2, GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment†
  Joy Samanich, Christina Lowes, Robert D. Burk, Sara Shanske, Jiesheng Lu, Alan L. Shanske, Bernice E. Morrow> ;American Journal of Medical Genetics. Part A. 2007 Apr 15
• Cleft palate.
  Joy Samanich> ;Pediatrics in Review. 2009 Jun 1
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