Research Overview

Dr. Sacharow has been part of research studies with a focus on autism, genomic disorders, inborn errors of metabolism and other rare diseases including X-linked spinal muscular atrophy. She is also interested in Jewish Genetic diseases, preconception screening, Genetics education, and the application of whole exome and whole genome sequencing. Dr. Sacharow is currently involved in clinical trials for Phenylketonuria (PKU) and Niemann Pick C disease.

About Stephanie Sacharow

Dr. Sacharow attended Vanderbilt University and then the University of Miami Miller School of Medicine. She completed residencies in Pediatrics and Medical Genetics at Jackson Memorial Hospital, prior to joining the faculty at the University of Miami Miller School of Medicine (UMSM) in the Division of Clinical and Translational Genetics in 2007. Dr. Sacharow is board-certified in Medical Genetics, Medical Biochemical Genetics and Pediatrics. While at UMSM, she served as Program Director for the ABMG training programs in Medical Genetics, Clinical Biochemical Genetics and Clinical Molecular Genetics, and was course director and professor for the Masters in Genomic Medicine and co-taught the UMSM Genetics course. She was also medical director for the Cleft Lip and Palate clinic, and director for the Southeast Florida Newborn Screening Program for Metabolic disease. Dr. Sacharow has participated in multispecialty clinics for craniofacial disorders, muscular dystrophy, vascular anomalies, and inborn errors of metabolism.

Dr. Sacharow was recruited to Boston Children’s Hospital in 2015, and is a member of the Harvard Medical School faculty. She is co-Director of the Boston Children's Lysosomal Storage Disorder (BoLD) Program. Dr. Sacharow is Faculty Advisor for the Genetics Student Interest Group at Harvard Medical School. As an experienced dysmorphologist and medical biochemical geneticist, she sees patients with disabilities, congenital anomalies, genetic syndromes, and metabolic disease to provide expertise for diagnosis, genetic counseling and longitudinal management. She enjoys working with children with special needs and their families.

Selected Publications

Sacharow S, Li D, Fan YS, Tekin M. Familial 16q24.3 microdeletion involving ANKRD11 causes a KBG-like syndrome. Am J Med Genet A. 2012 Mar;158A(3):547-52.doi: 10.1002/ajmg.a.34436. PMID:22307766

Fan YS, Ouyang X, Peng J, Sacharow S, Tekin M, Barbouth D, Bodamer O, Yusupov R, Navarrete C, Heller AH, Pena SDj. Frequent detection of parental consanguinity in children with developmental disorders by a combined CGH and SNP microarray. Mol Cytogenet. 2013 Sep 20;6(1):38. doi: 10.1186/1755-8166-6-38. PMCID: PMC3853444

Baumbach-Reardon L, Sacharow S, Ahearn ME. Spinal Muscular Atrophy, X-Linked Infantile. 2008 Oct 30 [updated 2012 Sep 13]. In: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, editors. Source GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2008 Oct 30 [updated 2012 Sep 13]. PMID: 20301739

Fregeau B, Kim J, Hernández-García A, Jordan VK, Cho MT, Schnur R, Monaghan KG, Juusola J, Rosenfeld JA, Bhoj E, Zackai EH, Sacharow S, Barañano K, Bosch DGM, de Vries BBA, Lindstrom K, Schroeder A, James P, Kulch P, Lalani S, van Haelst M, van Gassen KL, van Binsbergen E, Barkovich AJ, Scott DA, Sherr EH. (2016) De novo mutations of RERE cause a genetic syndrome whose features overlap those associated with proximal 1p36 deletions. Am J Hum Genet. 2016 (in press, accepted 2/2016).

Burnside RD, Pappas JG, Sacharow S, Applegate C, Hamosh A, Gadi IK, Jaswaney V, Keitges E, Phillips KK, Potluri VR, Risheg H, Smith JL, Tepperberg JH, Schwartz S, Papenhausen P. Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype. Am J Med Genet A. 2013 Apr;161A(4):822-8. doi: 10.1002/ajmg.a.35699. PMID: 23495222

Risheg H, Pasion R, Sacharow S, Proud V, Immken L, Schwartz S, Tepperberg JH, Papenhausen P, Tan TY, Andrieux J, Plessis G, Amor DJ, Keitges EA. Clinical Comparison of Overlapping Deletions of 19p13.3. Am J Med Genet A. 2013 Mar 20. doi: 10.1002/j.1552-4833.2013.35923.x. PMID: 2352015

Hedges DJ, Hamilton-Nelson KL, Sacharow SJ, Nations L, Beecham GW, Kozhekbaeva ZM, Butler BL, Cukier HN, Whitehead PL, Ma D, Jaworski JM, Nathanson L, Lee JM, Hauser SL, Oksenberg JR, Cuccaro ML, Haines JL, Gilbert JR, Pericak-Vance MA. Evidence of novel fine-scale structural variation at autism spectrum disorder candidate loci. Mol Autism. 2012 Apr 2;3:2. doi: 10.1186/2040-2392-3-2 PMID:22472195 PMCID:PMC3352055

Researcher Services

PUBLICATIONS

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  1. Capri Y, Flex E, Krumbach OHF, Carpentieri G, Cecchetti S, Lißewski C, Rezaei Adariani S, Schanze D, Brinkmann J, Piard J, Pantaleoni F, Lepri FR, Goh ES, Chong K, Stieglitz E, Meyer J, Kuechler A, Bramswig NC, Sacharow S, Strullu M, Vial Y, Vignal C, Kensah G, Cuturilo G, Kazemein Jasemi NS, Dvorsky R, Monaghan KG, Vincent LM, Cavé H, Verloes A, Ahmadian MR, Tartaglia M, Zenker M. Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome. Am J Hum Genet. 2019 Jun 06; 104(6):1223-1232. View abstract
  2. Longo N, Dimmock D, Levy H, Viau K, Bausell H, Bilder DA, Burton B, Gross C, Northrup H, Rohr F, Sacharow S, Sanchez-Valle A, Stuy M, Thomas J, Vockley J, Zori R, Harding CO. Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria. Genet Med. 2018 Dec 14. View abstract
  3. Hemati P, Revah-Politi A, Bassan H, Petrovski S, Bilancia CG, Ramsey K, Griffin NG, Bier L, Cho MT, Rosello M, Lynch SA, Colombo S, Weber A, Haug M, Heinzen EL, Sands TT, Narayanan V, Primiano M, Aggarwal VS, Millan F, Sattler-Holtrop SG, Caro-Llopis A, Pillar N, Baker J, Freedman R, Kroes HY, Sacharow S, Stong N, Lapunzina P, Schneider MC, Mendelsohn NJ, Singleton A, Loik Ramey V, Wou K, Kuzminsky A, Monfort S, Weiss M, Doyle S, Iglesias A, Martinez F, Mckenzie F, Orellana C, van Gassen KLI, Palomares M, Bazak L, Lee A, Bircher A, Basel-Vanagaite L, Hafström M, Houge G, Goldstein DB, Anyane-Yeboa K. Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature. Am J Med Genet A. 2018 Nov; 176(11):2259-2275. View abstract
  4. de Kock L, Geoffrion D, Rivera B, Wagener R, Sabbaghian N, Bens S, Ellezam B, Bouron-Dal Soglio D, Ordóñez J, Sacharow S, Polo Nieto JF, Guillerman RP, Vujanic GM, Priest JR, Siebert R, Foulkes WD. Multiple DICER1-related tumors in a child with a large interstitial 14q32 deletion. Genes Chromosomes Cancer. 2018 05; 57(5):223-230. View abstract
  5. El-Hattab AW, Wang J, Dai H, Almannai M, Staufner C, Alfadhel M, Gambello MJ, Prasun P, Raza S, Lyons HJ, Afqi M, Saleh MAM, Faqeih EA, Alzaidan HI, Alshenqiti A, Flore LA, Hertecant J, Sacharow S, Barbouth DS, Murayama K, Shah AA, Lin HC, Wong LC. MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects. Hum Mutat. 2018 04; 39(4):461-470. View abstract
  6. Sacharow SJ, Dudenhausen EE, Lomelino CL, Rodan L, El Achkar CM, Olson HE, Genetti CA, Agrawal PB, McKenna R, Kilberg MS. Characterization of a novel variant in siblings with Asparagine Synthetase Deficiency. Mol Genet Metab. 2018 03; 123(3):317-325. View abstract
  7. Rohanizadegan M, Sacharow S. Desmosterolosis presenting with multiple congenital anomalies. Eur J Med Genet. 2018 Mar; 61(3):152-156. View abstract
  8. Küry S, Besnard T, Ebstein F, Khan TN, Gambin T, Douglas J, Bacino CA, Craigen WJ, Sanders SJ, Lehmann A, Latypova X, Khan K, Pacault M, Sacharow S, Glaser K, Bieth E, Perrin-Sabourin L, Jacquemont ML, Cho MT, Roeder E, Denommé-Pichon AS, Monaghan KG, Yuan B, Xia F, Simon S, Bonneau D, Parent P, Gilbert-Dussardier B, Odent S, Toutain A, Pasquier L, Barbouth D, Shaw CA, Patel A, Smith JL, Bi W, Schmitt S, Deb W, Nizon M, Mercier S, Vincent M, Rooryck C, Malan V, Briceño I, Gómez A, Nugent KM, Gibson JB, Cogné B, Lupski JR, Stessman HA, Eichler EE, Retterer K, Yang Y, Redon R, Katsanis N, Rosenfeld JA, Kloetzel PM, Golzio C, Bézieau S, Stankiewicz P, Isidor B. De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. Am J Hum Genet. 2017 04 06; 100(4):689. View abstract
  9. Küry S, Besnard T, Ebstein F, Khan TN, Gambin T, Douglas J, Bacino CA, Craigen WJ, Sanders SJ, Lehmann A, Latypova X, Khan K, Pacault M, Sacharow S, Glaser K, Bieth E, Perrin-Sabourin L, Jacquemont ML, Cho MT, Roeder E, Denommé-Pichon AS, Monaghan KG, Yuan B, Xia F, Simon S, Bonneau D, Parent P, Gilbert-Dussardier B, Odent S, Toutain A, Pasquier L, Barbouth D, Shaw CA, Patel A, Smith JL, Bi W, Schmitt S, Deb W, Nizon M, Mercier S, Vincent M, Rooryck C, Malan V, Briceño I, Gómez A, Nugent KM, Gibson JB, Cogné B, Lupski JR, Stessman HAF, Eichler EE, Retterer K, Yang Y, Redon R, Katsanis N, Rosenfeld JA, Kloetzel PM, Golzio C, Bézieau S, Stankiewicz P, Isidor B. De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. Am J Hum Genet. 2017 Feb 02; 100(2):352-363. View abstract
  10. Fregeau B, Kim BJ, Hernández-García A, Jordan VK, Cho MT, Schnur RE, Monaghan KG, Juusola J, Rosenfeld JA, Bhoj E, Zackai EH, Sacharow S, Barañano K, Bosch DGM, de Vries BBA, Lindstrom K, Schroeder A, James P, Kulch P, Lalani SR, van Haelst MM, van Gassen KLI, van Binsbergen E, Barkovich AJ, Scott DA, Sherr EH. De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions. Am J Hum Genet. 2016 May 05; 98(5):963-970. View abstract
  11. Fan YS, Ouyang X, Peng J, Sacharow S, Tekin M, Barbouth D, Bodamer O, Yusupov R, Navarrete C, Heller AH, Pena SDj. Frequent detection of parental consanguinity in children with developmental disorders by a combined CGH and SNP microarray. Mol Cytogenet. 2013 Sep 20; 6(1):38. View abstract
  12. Risheg H, Pasion R, Sacharow S, Proud V, Immken L, Schwartz S, Tepperberg JH, Papenhausen P, Tan TY, Andrieux J, Plessis G, Amor DJ, Keitges EA. Clinical comparison of overlapping deletions of 19p13.3. Am J Med Genet A. 2013 May; 161A(5):1110-6. View abstract
  13. Burnside RD, Pappas JG, Sacharow S, Applegate C, Hamosh A, Gadi IK, Jaswaney V, Keitges E, Phillips KK, Potluri VR, Risheg H, Smith JL, Tepperberg JH, Schwartz S, Papenhausen P. Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype. Am J Med Genet A. 2013 Apr; 161A(4):822-8. View abstract
  14. Hedges DJ, Hamilton-Nelson KL, Sacharow SJ, Nations L, Beecham GW, Kozhekbaeva ZM, Butler BL, Cukier HN, Whitehead PL, Ma D, Jaworski JM, Nathanson L, Lee JM, Hauser SL, Oksenberg JR, Cuccaro ML, Haines JL, Gilbert JR, Pericak-Vance MA. Evidence of novel fine-scale structural variation at autism spectrum disorder candidate loci. Mol Autism. 2012 Apr 02; 3:2. View abstract
  15. Sacharow S, Li D, Fan YS, Tekin M. Familial 16q24.3 microdeletion involving ANKRD11 causes a KBG-like syndrome. Am J Med Genet A. 2012 Mar; 158A(3):547-52. View abstract
  16. Salyakina D, Cukier HN, Lee JM, Sacharow S, Nations LD, Ma D, Jaworski JM, Konidari I, Whitehead PL, Wright HH, Abramson RK, Williams SM, Menon R, Haines JL, Gilbert JR, Cuccaro ML, Pericak-Vance MA. Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk. PLoS One. 2011; 6(10):e26049. View abstract
  17. Liewluck T, Sacharow SJ, Fan Y, Lopez-Alberola R. A novel sporadic 614-Kb duplication of the 22q11.2 chromosome in a child with amyoplasia. J Child Neurol. 2011 Aug; 26(8):1005-8. View abstract
  18. Cukier HN, Salyakina D, Blankstein SF, Robinson JL, Sacharow S, Ma D, Wright HH, Abramson RK, Menon R, Williams SM, Haines JL, Cuccaro ML, Gilbert JR, Pericak-Vance MA. Microduplications in an autism multiplex family narrow the region of susceptibility for developmental disorders on 15q24 and implicate 7p21. Am J Med Genet B Neuropsychiatr Genet. 2011 Jun; 156B(4):493-501. View abstract
  19. Griswold AJ, Ma D, Sacharow SJ, Robinson JL, Jaworski JM, Wright HH, Abramson RK, Lybaek H, Øyen N, Cuccaro ML, Gilbert JR, Pericak-Vance MA. A de novo 1.5?Mb microdeletion on chromosome 14q23.2-23.3 in a patient with autism and spherocytosis. Autism Res. 2011 Jun; 4(3):221-7. View abstract
  20. Salyakina D, Ma DQ, Jaworski JM, Konidari I, Whitehead PL, Henson R, Martinez D, Robinson JL, Sacharow S, Wright HH, Abramson RK, Gilbert JR, Cuccaro ML, Pericak-Vance MA. Variants in several genomic regions associated with asperger disorder. Autism Res. 2010 Dec; 3(6):303-10. View abstract
  21. Morales A, Wierenga A, Cuthbert C, Sacharow S, Jayakar P, Velazquez D, Loring J, Barbouth D. Expanded newborn screening in Puerto Rico and the US Virgin Islands: education and barriers assessment. Genet Med. 2009 Mar; 11(3):169-75. View abstract
  22. Fan YS, Jayakar P, Zhu H, Barbouth D, Sacharow S, Morales A, Carver V, Benke P, Mundy P, Elsas LJ. Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization. Hum Mutat. 2007 Nov; 28(11):1124-32. View abstract
  23. Sacharow S. Safeguarding packaged drugs from bacteria and mold attack. Pharm Weekbl. 1969 Apr 25; 104(17):341-5. View abstract
  24. Sacharow S. Collapsible tubes for drugs and cosmetics. Pharm Weekbl. 1968 Nov 22; 103(47):1261-5. View abstract