A Note From Dr. Vergano
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
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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