Samantha Vergano, MD



American Board of Medical Genetics And Genomics

American Board of Pediatrics



Medical School:

Eastern Virginia Medical School


Morristown Memorial Hospital


Children's Hospital of Philadelphia


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


  • 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


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

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),

McCarthy J, Lupo PJ, Kovar E, Rech M, Bostwick B, Scott D, Kraft K, Roscioli T, Charrow J, Schrier Vergano SA, Lose E, Smiegel R, Lacassie Y, Schaaf CP. Schaaf-Yang syndrome overview: Report of 78 Individuals. 2018. Am J Med Genet A. DOI: 10.1002/ajmg.a40650.

Harrington JW, Emuren L, Restaino K, Schrier Vergano S. Parental Perception and Participation in Genetic Testing Among Children With Autism Spectrum Disorders. 2018. Clin Peds 1-14.

Mannino EA, Miyawaki H, Santen GWE, Schrier Vergano SA. First Data from a parent-reported registry of 81 individuals with Coffin-Sirls syndrome: Natural History and management recommendations. Am J Med Genet Part A 2018 (in press).

Stevens CA, Hogue JS, Hopkin R, Lombardo R, Schrier Vergano SA. Congenital Lumbar Hernia – a Feature of Diabetic Embryopathy? Am J Med Genet Part A 2018 (in press)

Wang J, Kim E, Dai H, Stefans V, Vogel H, Al Jasmi F, Schrier Vergano SA, Castro D, Bernes S, Bhambhani V, Long C, EI-Hattab AW, Wong LJ. Clinical and molecular spectrum of thymidine kinase 2-related mtDNA maintenance defect. Mol Genet Metab. 2018 Epub 2018

Zarate YA, Smith-Hicks CL, Greene C… SA Schrier Vergano….et al. Natural history and genotype-phenotype correlations fn 72 individuals with SATB2-associated syndrome. Am J Med Genet Part A. 176(4): 925-935.

Mannino EA, Pluim T, Wessler J, Cho MT, Juusola J. Schrier Vergano SA. Congenital Methemoglobinemia Type II in a 5 year-old boy. Clin Case Rep. 6(1): 170-178. 2017.

EI-Hattab AW, Dai H, Almannai M, Wang J, Faqeih EA, Al Asmari A, Saleh MAM, Elamin MAO, Alfadhel M, Alkuraya FS, Hashem M, Aldosary MS, Almass R, Almutairi FB, Alsagob M, AI-Owain M, AI-Sharfa S, AI-Hassnan ZN, Rahbeeni Z, AI­ Muhalzea MA, Makhseed N, Foskett GK, Stevenson DA, Gomez-Ospina N, Lee C, Boles RG, Schrier Vergano SA, Wortmann SB, Sperl W, Opladen T, Hoffmann GF, Hempel M, Prokisch H, Alhaddad B, Mayr JA, Chan W, Kaya N, Wong LC. Molecular and Clinical Spectra of FBXL4 Deficiency. Hum Mutat 38(12); 1649-1659. 2017.

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.

Kemohan KD, Dyment DA, Pupavac M, Cramer Z, McBride A, Bernard G, Straub I, Tetreault M, Hartley T, Huang L, Seil E, Majewski J, Rosenblatt DS, Shoubridge E, Mhanni A, Myers T, Proud V, Vergano S, Spangler B, Farrow E, Kissman J, Safina N, Care4Rare Consortium, Saunders C, Boycott KM, Thiffault I. Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelfc mutation of the tRNA isopentenyltransferase (TRIT1) gene. Hum Mutat. 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, MIiian F, Telegrafi A1 Baskin B, Person R, Fish JL, Everman DB. Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome. Clin Genet 2017.

Stern D, Cho MT, Chikarmane R, Willaert R, Retterer K, Kendall F, Deardorff M, Hopkins S, Bedoukian E, Slavotinek A,. Schrier Vergano S, Spangler B, McDonald M, McConkie-Rosell A, Burton BK, Kim KH, Oundijian N, Kronn D, Chandy N, Baskin B, Guillen Sacoto MJ, Wentzensen JM, McLaughlin HM, McKnight D, Chung WK. Association of the mlssense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures. Clin Genet. 2017. Epub ahead of print

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.

Di Donato N, Kuechler A, Verqano S, Heinritz W, Bodurtha J, Merchant SR, Breningstall G, Ladda R, Altmuller J, Bogershausen N, Timms AE, Hackmann K, Schrock E, Collins S, Olds C, Rump A, Dobyns WB. Update on the ACTG1- associated Baraitser-Winter cerebrofrontofacial syndrome. Am J Med Genet A. 2016. Doi: 10.1002/ajmg.a.37771. 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. SMARCEJ, a rare cause of Coffln-Siris Syndrome: Clinical description of three additional cases. Am J Med Genet Part A 9999A:1-7. (EPub ahead of print).

Mehta D, Vergano SA, Deardorff M, Aggarwal S, 8arot A, Johnson DM, Miller NF, Noon SE, Kaur M, Jackson L, Krantz ID. 2016. Characterization of limb differences in children with Cornelia de Lange Syndrome. Am J Med Genet C. PMID: 27120260

Elizabeth J. Bhoj, Dong Li, Margaret Harr, Shimon Edvardson, Orly Elpeleg, Elizabeth Chisholm, Jane Juusola, Ganka Douglas, Maria J. Guillen Sacoto, Karine Siquier-Pernet, Abdelkrim Saadi, Christine Bole-Feysot, Patrick Nitschke, Alekhya Narravula, Maria Walke, Michele B. Horner, Debra-Lynn Day-Salvatore, Parul Jayakar, Samantha A. Schrier Verqano, Mark A. Tarnopolsky, Madhuri Hegde, Laurence Colleaux, Peter Crino, Haken Hakonarson. 2016 Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia. American Journal of Human Genetics. ·

Greenfield B, Ellis, A, Verqano 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 lnq Bioeth. 2015. 5(2): 179-86. PMID 26300150.

Murray SB, Helm BM, Schrier Vergano SA. Polymlcrogyria 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 88, Ross LP, Boles DB, Schrier Vergano SA. 2015. Mosaic trisomy 15 in a livebom infant. Am J Med Genet Part A. 167A(4): 821-825

Samantha Vergano, Elizabeth Chisholm, Benjamin Helm, Katherine Langley, Brooke Spangler. Galactosemia and the Newborn Screen. American Academy of Pediatrics -Virginia Chapter. Newsletter Summer 2014.

Vergano 5S, 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

Chaudhry A Noor A, Degagne 8, Baker K, Bok LA, Brady AF, Chitayat D, Chung BH, Cytrynbaum C, Dyment D, Filges I, Helm B, Hutchison HT, Jeng LJ, Laumonnier F, Marshall CR, Menzel M, Parkash S, Parker MJ; The DDD Study, Raymond LF, Rideout AL, Roberts W, Rupps R, Schanze I, Schrander-Stumpel CT, Speevak MD, Stavropoulos DJ, .

Stevens SJ, Thomas ER, Toutain A, Vergano S, Weksberg R, Scherer SW, Vincent JB, Carter MT. Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder. Clin Genet. 2014Aug 14. 25131214. doi: 10.1111/cge.12482. [Epub ahead of print]

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, SchrierVergano S, Deardorff MA. IMAGe Syndrome. (March 2014) In: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, UniversityofWashington 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. Mal 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: GeneRevfews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle, 1997-2013. PMID: 23556151.

Schrier SA, Bodurtha JN, Burton B, Chudley AE, Chiong MAD, D’avanzo MG, Lynch SA, Music A, Nyazov OM, 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. 1SBA:1865-1876. PMID: 22711679

Schrier SA, Flcicioglu C. Severe metabolic acidosis in a newborn with an abnormal newborn screen. 2012. Clinical Pediatrics, 51(5) pp 518-520. PMID: 22500046

Schrier SA Scherer I, Deardorff M, Clark D, Audette L, Gillis L, Kline AD, Ernst L, Loomes K, Krantz ID, Jackson LG. Causes of Death and Autopsy Findings in a Large Study Cohort of Individuals with Cornelia de Lange Syndrome and Review of the Literature. American Journal of Medical Genetics, 2011 PMID: 22069164

Schrier SA Falk MJ. Mitochondrial Disorders and the Eye. Curr Opln Ophthalmol. Jul 2011. PMID: 21730846.

Schrier SA, Wong LJ, Place E, Ji JQ, Pierce EA, Golden J, Santi M, Anninger W, Falk MJ. Mitochondrial tRNA-serine (AGY) m.C12264T mutation causes severe multisystem disease with cataracts. Discov Med. 2012 Feb;13(69):143-50. PMID 22369973.

Vani, P., Schrier, S., Lee, B. Case Study: Ethical Decisions for a Patient Born with Trisomy 18. 2009. Rutgers Journal of Bioethics, Vol. 1, Issue I; 24-26.

D’Aco KE, Schrier SA.. “Metabolic Diseases in Hyperammonemic Newborns,” “Metabolic Diseases in Hypoglycemic Newborns,” “Metabolic Diseases in Acidotic Newborns.” In Schwartz (ed). The 5-Minute Pediatric Consult, 6th ed. Lippincott Williams and Wilkins, Inc. Philadelphia, PA, September 2011. ISBN-10 145111656X

Dr. Vergano’s publications can be viewed at PubMed.

Contact Info:

(757) 668-9723



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601 Children's Ln
Norfolk, VA 23518



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