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
