About Dr. Samanich
Dr. Joy Samanich
Dr. Samanich is board certified both by the American Board of Genetics and Genomics. After attaining her medical degree at the Albert Einstein College of Medicine, Dr. Samanich completed a residency in Pediatrics, then a fellowship in Genetics at the Children's Hospital at Montefiore. She then continued to work at the Children's Hospital for over 10 years. During her time, she served as Co-Director of the Williams Center. She also specialized in the care of children with craniofacial disorders and worked with families and a research team for children with hearing impairment.
She enjoys working with children and families with a wide array of neurodevelopmental and physical challenges, both for diagnosis and genetic counseling. Common reasons children and adults come for evaluation are Ehlers-Danlos syndrome, Hearing Impairment, Autism, Developmental Delays, Seizures, Short Stature and Family History of a genetic disorder. She works closely with families to try to find answers and optimize care for their particular needs.
Dr. Samanich lives in Westchester with her husband and two children. She enjoys traveling, gardening, and being a mom.
Background
Education and Training
- 2004-2006 Genetics Fellowship, Children's Hospital at Montefiore
- 2001-2004 Pediatric Residency, Children's Hospital at Montefiore
- 1997-2001 MD, Albert Einstein College of Medicine
- 1993-1997 BS, Psychobiology, Binghamton University
Professional Activities
2005-2012 Faculty, Co-Instructor of Introduction to Clinical Medicine graduate course, Sarah Lawrence College
2006-2013 Member, Institute for Hearing and Communication Disorders, Montefiore Medical Center
2006-Present Faculty, Annual Metro NY/NJ Pediatric Board Review Course, New York
2007 Faculty, Pediatric Recertification Board Review Course, Florida
2007-2012 Interviewer, Admissions Committee, Albert Einstein College of Medicine
2007-2011 Member, Protocol Advisory Committee, Clinical Research Center, Albert Einstein College of Medicine
2007-Present Reviewer, International Journal of Pediatric Otorhinolaryngology
2008 Member, Search Committee for Director of Scientific Research for the Children’s Evaluation and Rehabilitation Center, Albert Einstein College of Medicine
2008 Reviewer, Human Genetics
2009-2013 Member, Advisory Board, Sarah Lawrence College, Joan H. Marks Human Genetics Program
2010 Editorial Board, Journal of Pediatric Genetics
2012 Reviewer, American Journal of Medical Genetics
Invited presentations
2007 Pediatric Grand Rounds. "An update on "common" genetic disorders". Norwalk Hospital.
2007 Pediatric Grand Rounds. "An update on "common" genetic disorders". St. John’s Riverside Hospital.
2007-2009 Lecture to speech pathology students. "The Genetics of Speech, Language and Hearing Disorders". Teacher’s College.
2008 Pediatric Grand Rounds. "Chromosomal Deletion Syndromes". Norwalk Hospital.
2009 Pediatric Grand Rounds. "Williams syndrome". Stamford Hospital.
2009 Pediatric Grand Rounds. "Williams syndrome". St. John’s Riverside Hospital.
2009-2011 Lectures to Physician Assistants students. "Genetics and Molecular Mechanisms of Health and Disease". St. John’s University.
2010 Talk at Cardiomyopathy conference. “Genetics and the cardiomyopathies”. Newark, NJ.
2010 Congresso Nacional de Actualizaciones en Neonatologia & Perinatologia II. "Common Congenital abnormalities diagnosed in the newborn". Panama City, Panama.
2010 Congresso Nacional de Actualizaciones en Neonatologia & Perinatologia II. " Advances in genetic and genomic diagnostics". Panama City, Panama.
2010 Newborn Hearing Screening Symposium. “"Infants at risk for hearing loss" and "Comorbidities and Disorders associated with hearing loss". Columbia Teacher’s College.
2010 Pediatric Grand Rounds. “Craniofacial Syndromes.” Stamford Hospital.
2011 Pediatric Grand Rounds. “Craniofacial syndromes.” Norwalk Hospital.
2011 An Educational Workshop for Professionals working with Children Who have Hearing Impairment. "The Relationship of Etiology, Demography and Diversity to Hearing Loss". New York, NY.
Awards and Honors
New York Super Doctors® 2019, 2020
Castle Connolly Top Doctor 2019
Publications
Book chapters
1. Samanich J, Pereira E. PRRX1. In: Erickson RP, Wynshaw-Boris A, eds. Epstein’s Inborn Errors of Development: The Molecular Basis of Clinical Disorders of Morphogenesis. 3rd ed. New York, NY: Oxford University Press; 2016.
2. Samanich JM, Marion RW. Facial Dysmorphism. In: Campbell DE, ed. Neonatology for Primary Care. Elk Grove Village, IL: American Academy of Pediatrics; 2014.
3. Natasha Shur and Joy Samanich. Williams Syndrome. in Clinical Decision Support: Pediatrics, edited by McMillan JM; Barrett DJ; Boney CM; Jones MD. 2012. Decision Support in Medicine, LLC. Wilmington, DE. Online publication.
4. Robert Marion and Joy Samanich. Genetics. Pediatrics for Medical Students, 3rd edition. ed. Daniel Bernstein and Steven Shelov. Lippincott Williams and Wilkins. 2011; pages 227-247.
5. Robert Marion and Joy Samanich. Emergencies Associated with Genetic Syndromes. Clinical Manual of Emergency Pediatrics, 5th Edition. ed. Ellen F. Crain and Jeffrey C. Gershel. Cambridge University Press. 2010; pages 278-282.
6. Samanich, Joy. Screening and Testing: Genetics. Pediatr Ann. August;38(8):408-409, 2009. Guest editor of Special Journal issue on Genetics
7. Samanich, J, Adam HM.
Cleft Palate.
Pediatr Rev. Jun;30(6):230-2, 2009.
8. Samanich, J.
Health Care Supervision for Twin Pairs.
Am J Med Genet Part C: Seminars in Medical Genetics. May 15;151C(2):162-6, 2009.
Publications
Journal Articles
1. Patel K, Giese AP, Grossheim JM, Hegde RS, Delio M, Samanich J, Riazuddin S, Frolenkov GI, Cai J, Ahmed ZM, Morrow BE. 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 Oct 1;10(10):e0133082.19.
2. Izumi K, Nakato R, Zhang Z, Edmondson AC, Noon S, Dulik MC, Rajagopalan R, Venditti CP, Gripp K, Samanich J, Zackai EH, Deardorff MA, Clark D, Allen JL, Dorsett D, Misulovin Z, Komata M, Bando M, Kaur M, Katou Y, Shirahige K, Krantz ID. Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin. Nat Genet. 2015 Apr;47(4):338-44.
3. Ma D, Punjabi NP, Pereira E, Samanich J, Agarwal C, Li Chih-Kang Huang J, Ramesh KH, Cannizzaro LA, Marion RW, Naeem R: 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 Cytogenetics. 2014 Nov 26;7(1):85.
4. Delio M, Pope K, Wang T, Samanich J, Haldeman-Englert CR, Kaplan P, Shaikh TH, Cai J, Marion RW, Morrow BE, Babcock M. Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams-Beuren syndrome. Am J Med Genet A. 2013 Mar;161(3):527-33.
5. Delio M, Guo T, McDonald-McGinn DM, Zackai E, Herman S, Kaminetzky M, Higgins AM, Coleman K, Chow C, Jarlbrzkowski M, Bearden CE, Bailey A, Vangkilde A, Olsen L, Olesen C, Skovby F, Werge TM, Templin L, Busa T, Philip N, Swillen A, Vermeesch JR, Devriendt K, Schneider M, Dahoun S, Eliez S, Schoch K, Hooper SR, Shashi V, Samanich J, Marion R, van Amelsvoort T, Boot E, Klaassen P, Duijff SN, Vorstman J, Yuen T, Silversides C, Chow E, Bassett A, Frisch A, Weizman A, Gothelf D, Niarchou M, van den Bree M, Owen MJ, Suñer DH, Andreo JR, Armando M, Vicari S, Digilio MC, Auton A, Kates WR, Wang T, Shprintzen RJ, Emanuel BS, Morrow BE; on behalf of the International 22q11.2 Consortium. Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and DiGeorge Syndromes. Am J Hum Genet. 2013 Mar 7;92(3):439-47.
6. Sean B. Herman, Sarah K. Holman, Stephen P. Robertson, Lynn Davidson, Benjamin Taragin, Joy Samanich. Severe Osteopathia Striata with Cranial Sclerosis in a Female Case with Whole WTX Gene Deletion. AJMG. Mar;161(3):594-9, 2013.
7. Samanich JM, Levin TL, Berdon WE. The clinical and genetic distinction between familial supravalvular aortic stenosis (Eisenberg syndrome) and Williams-Beuren syndrome. Pediatr Radiol. Oct;42(10):1269, 2012.
8. SK Holman, TMorgan, G Baujat, V Cormier-Daire, T-J Cho, M Lees, J Samanich, D Tapon, HD Hove, A Hing, R, Hennekam and SP Robertson. Osteopathia striata congenita with cranial sclerosis and intellectual disability due to contiguous gene deletions involving the WTX locus. Clin Genet. Mar;83(3):251-6, 2013.
9. Pope K*, Samanich J*, Ramesh KH, Cannizzaro, L, Pan Q, Babcock M. Dextrocardia, atrial septal defect, severe developmental delay, facial anomalies, and supernumerary ribs in a child with a complex unbalanced 8;22 translocation including partial 8p duplication. Am J Med Genet Part A. Mar;158A(3):641-7, 2012. *Authors contributed equally to this work
10. Sean Herman, Maria Delio, Bernice Morrow, Joy Samanich.
Agnathia-Otocephaly Complex: A Case Report and Examination of the OTX2 and PRRX1 genes. Gene. Feb 15;494(1):124-9, 2012.
11. L. Cohen, J. Samanich, Q. Pan, L. Mehta, R. Marion.
17q12 Deletion Found in a Williams Syndrome Patient With Multicystic Kidney Disease: Case Report and Review.
J Ped Genet. 1(2): 2012.
12. J Samanich, C Montagna, B Morrow, M Babcock.
Interstitial duplication of 22q13.2 in a girl with short stature, speech and language impairment, refractive amblyopia and dysmorphism.
J Ped Genet. 1(1):47-53, 2012.
13. Marilena Petti, Joy Samanich, Qiulu Pan, Chih-Kang Huang, Jana Reinmund, Sadaf Farooqi, Bernice Morrow, Melanie Babcock.
Molecular Characterization of a Patient with an Interstitial Deletion of 1p31.3 and a Review of the Literature. Am J Med Genet Part A. 155:825–832, 2010.
14. Payal D. Patel, Joy M. Samanich, William B. Mitchell, Deepa Manwani.
Size Does Not Matter: A Unique Presentation of Wiskott-Aldrich Syndrome in Relation to Platelet Size. Pediatr Blood Cancer. 2011 Jul 1;56(7):1127-9.
15. Catalina Baia, Binta Lambert, Rina Meyer, Komal Bajaj, Joy Samanich, Peer Daar, Orna Rosen.
Index of Suspicion in the Nursery, Metabolic Acidosis and Echogenic Kidneys on Fetal Ultrasonography. NeoReviews 11: 447-452, 2010.
16. Dennis C. Monks, Arthee Jahangir, Alan L. Shanske, Joy Samanich, Bernice E. Morrow, Melanie Babcock.
Mutational analysis of HOXA2 and SIX2 in a Bronx population with isolated microtia.
Int J Pediatr Otorhinolaryngol. Aug;74(8):878-882, 2010.
17. Jidong Shan, Janie Chobot-Rodd, Raquel Castellanos, Melanie Babcock, Alan Shanske, Sanjay R. Parikh, Bernice E. Morrow, Joy Samanich.
GJB2 mutation spectrum in 209 hearing impaired individuals of predominantly Caribbean Hispanic and African descent.
Int J Pediatr Otorhinolaryngol. Jun;74(6):611-618, 2010.
18. Tova C. Fischer, Joy Samanich, Bernice E. Morrow, Janie Chobot-Rodd, Alan Shanske, Sanjay R. Parikh.
Genetic evaluation of American minority pediatric cochlear implant recipients.
Int J Pediatr Otorhinolaryngol. Feb;73(2):195-203, 2009.
19. Samanich J, Lowes C, Burk R, Shanske S, Lu J, Shanske A, Morrow BE.
Mutations in GJB2, GJB6 and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment.
Am J Med Genet Part A. Apr 15;143(8):830-8, 2007.
