Assistant Professor, Pediatrics, Genetics; OB/GYN and Women's Health, Albert Einstein College of Medicine
Medical Genetics
Dr. Joy M. Samanich, MD
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Samanich works in the field of Medical Genetics. She researched medicine at Albert Einstein College of Medicine. She received awards:"Fellow (FAAP)" and "Super Doctor". Samanich is a published doctor. She published 15 publications, including: 'Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin.'
Publications
- Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin.
- Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and DiGeorge Syndromes.
- Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams-Beuren syndrome.
- A unique presentation of Wiskott-Aldrich syndrome in relation to platelet size.
- 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.
- Molecular characterization of an interstitial deletion of 1p31.3 in a patient with obesity and psychiatric illness and a review of the literature.
- Mutational analysis of HOXA2 and SIX2 in a Bronx population with isolated microtia.
- GJB2 mutation spectrum in 209 hearing impaired individuals of predominantly Caribbean Hispanic and African descent.
- This issue: screening and testing: genetics.
- Health care supervision for twin pairs.
- Genetic evaluation of American minority pediatric cochlear implant recipients.
- Mutations in GJB2, GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment.
- Dextrocardia, atrial septal defect, severe developmental delay, facial anomalies, and supernumerary ribs in a child with a complex unbalanced 8;22 translocation includ...
- Agnathia-otocephaly complex: a case report and examination of the OTX2 and PRRX1 genes.
Schools
Albert Einstein College of Medicine of Yeshiva University
Montefiore Med Center
Chldns Hospital Montefiore
Chldns Hops Montefiore
Doctors Specialties
- Clinical Genetics
- Pediatrics
- Medical Genetics
Accepted Insurances
Awards
- Fellow (FAAP)
- Super Doctor
Education
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Albert Einstein College of Medicine -
Albert Einstein College of Medicine of Yeshiva University
Hospital
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Stamford Hospital -
Montefiore Medical Center
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