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Farach, Laura Schoch
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1

Two new reported cases of 16q22.3q23.3 duplication syndrome..:

Gunther, Kathryn ; Mowrey, Kate ; Farach, Laura Schoch
Clinical Case Reports.  9 (2021)  3 - p. 1629-1633 , 2021
Link: https://doi.org/10.1002/..
 
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2

Two new reported cases of 16q22.3q23.3 duplication syndrome..:

Gunther, Kathryn ; Mowrey, Kate ; Farach, Laura Schoch
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7981733/.  , 2021
Link: http://www.ncbi.nlm.nih...
 
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3

Two new reported cases of 16q22.3q23.3 duplication syndrome..:

Kathryn Gunther ; Kate Mowrey ; Laura Schoch Farach
https://doi.org/10.1002/ccr3.3862.  , 2021
Link: https://doi.org/10.1002/..
 
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4

Common epilepsy variants from the general population are no..:

Richard, Melissa A. ; Lupo, Philip J. ; Ehli, Erik A....
American Journal of Medical Genetics Part A.  194 (2024)  6 - p. , 2024
Link: https://doi.org/10.1002/..
 
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5

Drug Resistant Epilepsy in Tuberous Sclerosis Complex is As..:

Farach, Laura S. ; Richard, Melissa A. ; Wulsin, Aynara C....
Pediatric Neurology.  , 2024
Link: https://doi.org/10.1016/..
 
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6

Targeted Genomic Sequencing of TSC1 and TSC2 Reveals Causal..:

West, Hannah D. ; Nellist, Mark ; Brouwer, Rutger W. W....
Human Mutation.  2023 (2023)  - p. 1-18 , 2023
Link: https://doi.org/10.1155/..
 
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7

Mild TSC phenotype and non-penetrance associated with a fra..:

Farach, Laura S. ; Northrup, Hope ; Nellist, Mark...
Gene.  877 (2023)  - p. 147566 , 2023
Link: https://doi.org/10.1016/..
 
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8

Arginase deficiency masked by cerebral palsy and coagulopat..:

Mills, Shelby L. ; Roberts, Paige ; Ashfaq, Myla...
JIMD Reports.  64 (2023)  6 - p. 434-439 , 2023
Link: https://doi.org/10.1002/..
 
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9

Massive macroglossia, a rare side effect of COVID-19: clini..:

Mañón, Victoria A. ; Chubb, David ; Farach, Laura S....
Oral and Maxillofacial Surgery.  26 (2022)  4 - p. 613-618 , 2022
Link: https://doi.org/10.1007/..
 
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10

Assessing patient attitudes toward genetic testing for here..:

Johnson, Addison Q. ; Bannon, Sarah A. ; Farach, Laura S....
European Journal of Haematology.  110 (2022)  1 - p. 109-116 , 2022
Link: https://doi.org/10.1111/..
 
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11

Case Report: Novel pathogenic variant in NFIX in two sister..:

Langley, Elizabeth ; Farach, Laura S. ; Mowrey, Kate
Frontiers in Genetics.  13 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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12

NEXMIF pathogenic variants in individuals of Korean, Vietna..:

Langley, Elizabeth ; Farach, Laura S. ; Koenig, Mary K....
American Journal of Medical Genetics Part A.  188 (2022)  6 - p. 1688-1692 , 2022
Link: https://doi.org/10.1002/..
 
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13

De novo and inherited variants in ZNF292 underlie a neurode..:

Mirzaa, Ghayda M. ; Chong, Jessica X. ; Piton, Amélie...
Genetics in Medicine.  22 (2020)  3 - p. 538-546 , 2020
Link: https://doi.org/10.1038/..
 
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14

Exploring the predicted yield of prenatal testing by evalua..:

Nunley, Peyton B. ; Hashmi, Syed S. ; Johnson, Anthony...
Prenatal Diagnosis.  41 (2020)  3 - p. 354-361 , 2020
Link: https://doi.org/10.1002/..
 
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15

The first reported case of Loeys‐Dietz syndrome in a patien..:

Baskin, Stephanie M. ; Morris, Shaine A. ; Vara, Autumn..
American Journal of Medical Genetics Part A.  182 (2020)  11 - p. 2755-2760 , 2020
Link: https://doi.org/10.1002/..
 
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