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Schrier Vergano, Samantha A.
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1

ARID2, a milder cause of Coffin‐Siris Syndrome? Broadening ..:

Schrier Vergano, Samantha A.
American Journal of Medical Genetics Part A.  194 (2024)  6 - p. , 2024
Link: https://doi.org/10.1002/..
 
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2

Coffin-Siris syndrome and cancer susceptibility:

Borja, Nicholas A. ; Schrier Vergano, Samantha A. ; Tekin, Mustafa
Genetics in Medicine Open.  1 (2023)  1 - p. 100818 , 2023
Link: https://doi.org/10.1016/..
 
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3

A Genetic Etiology Identified for a Form of Familial Polyva..:

McKinney, Lauren M. ; Clark, Mariah C. ; Ellis, Alexander R..
JACC: Case Reports.  14 (2023)  - p. 101837 , 2023
Link: https://doi.org/10.1016/..
 
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4

Epilepsy in Coffin–Siris syndrome: A report from the intern..:

Ciliberto, Michael ; Skjei, Karen ; Vasko, Ashley.
American Journal of Medical Genetics Part A.  191 (2022)  1 - p. 22-28 , 2022
Link: https://doi.org/10.1002/..
 
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5

Addressing underrepresentation in genomics research through..:

Lemke, Amy A. ; Esplin, Edward D. ; Goldenberg, Aaron J....
The American Journal of Human Genetics.  109 (2022)  9 - p. 1563-1571 , 2022
Link: https://doi.org/10.1016/..
 
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6

Evidence for an association betweenCoffin‐Sirissyndrome and..:

Gofin, Yoel ; Zhao, Xiaonan ; Gerard, Amanda...
American Journal of Medical Genetics Part A.  188 (2022)  9 - p. 2718-2723 , 2022
Link: https://doi.org/10.1002/..
 
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7

Heterozygous variants inPRPF8are associated with neurodevel..:

O'Grady, Lauren ; Schrier Vergano, Samantha A. ; Hoffman, Trevor L....
American Journal of Medical Genetics Part A.  188 (2022)  9 - p. 2750-2759 , 2022
Link: https://doi.org/10.1002/..
 
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8

Language Impairments in Individuals With Coffin-Siris Syndr..:

Vasko, Ashley ; Schrier Vergano, Samantha A.
Frontiers in Neuroscience.  15 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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9

Exome and RNA‐Seq analyses of an incomplete penetrance vari..:

Li, Dong ; March, Michael E. ; Wang, Tiancheng...
American Journal of Medical Genetics Part A.  188 (2022)  6 - p. 1808-1814 , 2022
Link: https://doi.org/10.1002/..
 
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10

Novel variants in KAT6B spectrum of disorders expand our kn..:

Yabumoto, Megan ; Kianmahd, Jessica ; Singh, Meghna...
Molecular Genetics & Genomic Medicine.  9 (2021)  10 - p. , 2021
Link: https://doi.org/10.1002/..
 
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11

Genotype-Phenotype Correlations in 208 Individuals with Cof..:

Vasko, Ashley ; Drivas, Theodore G. ; Schrier Vergano, Samantha A.
Genes.  12 (2021)  6 - p. 937 , 2021
Link: https://doi.org/10.3390/..
 
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12

Further supporting SMARCC2‐related neurodevelopmental disor..:

Li, Dong ; Downes, Helen ; Hou, Cuiping...
American Journal of Medical Genetics Part A.  188 (2021)  3 - p. 878-882 , 2021
Link: https://doi.org/10.1002/..
 
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13

Expanding the phenotype of ASXL3‐related syndrome: A compre..:

Schirwani, Schaida ; Albaba, Shadi ; Carere, Deanna Alexis...
American Journal of Medical Genetics Part A.  185 (2021)  11 - p. 3446-3458 , 2021
Link: https://doi.org/10.1002/..
 
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14

The CHD4-related syndrome: a comprehensive investigation of..:

Weiss, Karin ; Lazar, Hayley P. ; Kurolap, Alina...
Genetics in Medicine.  22 (2020)  2 - p. 389-397 , 2020
Link: https://doi.org/10.1038/..
 
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15

EP300‐related Rubinstein–Taybi syndrome: Highlighted rare p..:

Cohen, Jennifer L. ; Schrier Vergano, Samantha A. ; Mazzola, Sarah...
American Journal of Medical Genetics Part A.  182 (2020)  12 - p. 2926-2938 , 2020
Link: https://doi.org/10.1002/..
 
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