Samantha Vergano, MD

Morristown Memorial Hospital

Children's Hospital of Philadelphia

Bio:

Dr. Vergano specializes in medical genetics and its influences on patients. One of her specific interests involves Coffin-Siris syndrome. Dr. Vergano began studying Coffin-Siris syndrome (CSS) while completing her fellowship in medical genetics at the Children’s Hospital of Philadelphia. She has continued her involvement with the CSS community upon her arrival at CHKD in 2012. In 2015, the first international IRB-approved Coffin-Siris registry was begun and presently has over 90 individuals enrolled. Dr. Vergano has been active in the Coffin-Siris syndrome parent support group, attending annual CSS family meetings in Norfolk in 2016 and in Seattle in 2017. She finds working with this CSS community extremely rewarding and enjoys being able to help coordinate the often complex medical issues that arise for children with CSS. Dr. Vergano is married to Dr. Scott Vergano of Pediatric Specialists. Together they have a daughter, Norma.

Clinical Interests:

• Coffin-Siris syndrome
• Urea cycle disorders
• Connective tissue disorders
• Skeletal dysplasias

CHKD Clinical Trials Involving Dr. Samantha Vergano

Research:

• Coffin-Siris syndrome
• Inborn errors of metabolism
• Marfan syndrome and related connective tissues disorders
• Skeletal dysplasias

Honors and Awards:

• Coastal Virginia Magazine “Top Doc” 2018, 2019, 2020, 2021, 2022, 2023
• 2015 James W. Hayes MD Faculty Teaching Award
• Gold Humanism in Medicine Honor Society

Publications:

• Samantha A. Schrier Vergano, et al. EIF3F‑related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum. Hüffmeier et al. Orphanet J Rare Dis (2021) 16:136 https://doi.org/10.1186/s13023-021-01744-1
• den Hoed …Samantha A. Schrier Vergano,…et al., Mutation-specific pathophysiological mechanisms define dif-ferent neurodevelopmental disorders associated with SATB1 dysfunction, The American Journal of Human Genetics (2021), https://doi.org/10.1016/j.ajhg.2021.01.007
• Helm BM, Powis Z, Prada CE, Casasbuenas-Alarcon OL, Balmakund T, Schaefer GB, Kahler SG, Kaylor J, Winter S, Zarate YA, Schrier Vergano SA. The Role of IQSEC2 in Non-syndromic Intellectual Disability: Narrowing the Diagnostic Odyssey. Am J Med Genet A 173(10): 2814-2820. 2017.
• Helm BM, Willer JR, Sadeghpour A, Golzio C, Crouch E, Vergano SS, Katsanis N, Davis EE. Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome. Hum Genomics 11(1). 2017.
• Reittinger AM, Helm BM, Boles DJ, Gadi IK, Schrier Vergano SA. A Prenatal Diagnosis of Mosaic Trisomy 5 Reveals a Postnatal Complete Uniparental Disomy of Chromosome 5 with Multiple Congenital Anomalies. Am J Med Genet 2017.
• Zarate YA, Kalsner L, Basinger A, Jones JR, Li C, Szybowska M, Xu ZL, Vergano S, Caffrey AR, Gonzalez CV, Dubbs H, Zackai E, Millan F, Telegrafi A, Baskin B, Person R, Fish JL, Everman DB. Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome. Clin Genet 2017.
• Long A, Sinkovskaya ES, Edmondson AC, Zackai E, Schrier Vergano SA. Kabuki Syndrome as a cause of non-immune fetal hydrops/ascites. Am J Med Genet A. 2016. Doi: 10.1002/ajmg.a.37956. Epub ahead of print.
• Kurtom, W, Degnan A, Langley KG, Schrier Vergano SA. An 8 Year-old boy with Multiple Joint Contractures. Consultant for Pediatricians. July-August 2016. Vol 15., No 7.
• Zarate YA, Bhoj E, Kaylor J, Li D,Tsurusaki Y, Miyake N, Matsumoto N, Phadke S, Escobar L, Irani A, Hakonarson H, Schrier Vergano SA. 2016. SMARCE1, a rare cause of Coffin–Siris Syndrome: Clinical description of three additional cases. Am J Med Genet Part A 9999A:1–7. (EPub ahead of print).
• Greenfield B, Ellis, A, Vergano S. Case 2: SGA Newborn with Respiratory Distress and Active Precordium. NeoReviews. April 2016. Vol. 17. Issue 4.
• Schrier Vergano S, Ibrahim J. Case in Point: Gaucher Disease: A boy with abdominal enlargement and pain. Consultant for Pediatricians: 2016:15(3):130-132
• Perera S. and Schrier Vergano S.  Newborn with Localized Edema of the Finger. 2016. Consult Pediatricians. 15(2): 95-96.
• Ryan KM, Ellis AR, Raafat R, Bhoj EJ, Hakonarson H, Li D, Schrier Vergano SA. Aortic coarctation and carotid artery aneurysm in a patient with Hardikar syndrome: Cardiovascular implications for affected individuals. Am J Med Genet A. 2015. PMID 26471230.
• Langley KG, Brown J, Gerber RJ, Fox J, Freiz M, Lyons M, Schrier Vergano SA. Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum. Am J Med Gene A. 2015. PMID 26338144.
• Austin DA, Vergano SS, Harrington JW. Why are this boy and his dad squinting? Consultant Pediatricians. 2015;14(7):326
• Helm BM, Langley K, Spangler BB, Schrier Vergano SA. Military Health Care Dilemmas and Genetic Discrimination: A Family’s Experience with Whole Exome Sequencing. Narrat Inq Bioeth. 2015. 5(2): 179-86. PMID 26300150.
• Murray SB, Helm BM, Schrier Vergano SA. Polymicrogyria in a 10 month-old with Mowat-Wilson Syndrome. 2015. Am J Med Genet Part A.
• Langley KG, Trau S, Bean LJH, Narravula A, Schrier Vergano SA. 2015. A 7-month-old male with Allan-Herndon-Dudley syndrome and the power of T3. Am J Med Genet Part A. 167A(5): 1117-1120.
• McPadden J, Helm BM, Spangler BB, Ross LP, Boles DB, Schrier Vergano SA. 2015. Mosaic trisomy 15 in a liveborn infant. Am J Med Genet Part A. 167A(4): 821-825
• Vergano SS, Deardorff MA. Clinical features, diagnostic criteria, and management of Coffin-Siris syndrome.
• Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):252-6. doi: 10.1002/ajmg.c.31411. Epub 2014 Aug 28. PMID: 25169447
• Helm BM¹, Langley K, Spangler B, Vergano S. Three clinical experiences with SNP array results consistent with parental incest: a narrative with lessons learned. J Genet Couns. 2014 Aug;23(4):489-95. PMID: 24222483
• Bennett J, Schrier Vergano S, Deardorff MA. IMAGe Syndrome. (March 2014) in: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington Seattle, 1997-2013. PMID: 24624461
• Schrier Vergano S, Rao M, McCormack S, Ostrovsky J, Clarke C, Preston J, Bennett MJ, Yudkoff M, Xiao R, Falk MJ. In vivo metabolic flux profiling with stable isotopes discriminates sites and quantifies effects of mitochondrial dysfunction in C. elegans. Mol Genet Metab. 2014. Mar; 111(3):331-41. PMID 24445252.
• Helm BM, Langley K, Spangler B, Vergano S. Three Clinical Experiences with SNP Array Results Consistent with Parental Incest: A Narrative with Lessons Learned. J Genet Couns 2013. Epub ahead of print. PMID: 24222483
• Vergano SA, Crossette JM, Cusick FC, Desai BR, Deardorff MA, Sondheimer N. Improving surveillance for hyperammonemia in the newborn. 2013 Mol Genet Metab. pii: S1096-7192(13)00171-6. PMID: 23746553
• Vergano SS, Santen G, Wieczorek D, Wollnik B, Matsumoto N, Deardorff MA: Coffin-Siris Syndrome (April 2013) in: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle, 1997-2013. PMID: 23556151.
• Schrier Vergano SA, Bodurtha JN, Burton B, Chudley AE, Chiong MAD, D’avanzo MG, Lynch SA, Musio A, Nyazov DM, Sanchez-Lara PA, Shalev SA, Deardorff MA. 2012. The Coffin–Siris syndrome: A proposed diagnostic approach and assessment of 15 overlapping cases. Am J Med Genet Part A. 158A:1865–1876. PMID: 22711679

Contact Info:

(757) 668-9723