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Ziats, Catherine A.
27  results:
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1

Expanded phenotypic spectrum of neurodevelopmental and neur..:

Layo-Carris, Dana E. ; Lubin, Emily E. ; Sangree, Annabel K....
European Journal of Human Genetics.  32 (2024)  8 - p. 928-937 , 2024
Link: https://doi.org/10.1038/..
 
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2

P672: Commercial cystic fibrosis carrier screening tests an..:

Tidwell, Timothy ; Gregg, Anthony ; Grody, Wayne...
Genetics in Medicine Open.  2 (2024)  - p. 101576 , 2024
Link: https://doi.org/10.1016/..
 
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3

Correction: Expanded phenotypic spectrum of neurodevelopmen..:

Layo-Carris, Dana E. ; Lubin, Emily E. ; Sangree, Annabel K....
European Journal of Human Genetics.  32 (2024)  8 - p. 1032-1032 , 2024
Link: https://doi.org/10.1038/..
 
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4

Updated recommendations for CFTR carrier screening: A posit..:

Deignan, Joshua L. ; Gregg, Anthony R. ; Grody, Wayne W....
Genetics in Medicine.  25 (2023)  8 - p. 100867 , 2023
Link: https://doi.org/10.1016/..
 
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5

Clinical findings in individuals with duplication of genes ..:

Sahajpal, Nikhil ; Ziats, Catherine ; Chaubey, Alka...
Clinical Genetics.  105 (2023)  2 - p. 173-184 , 2023
Link: https://doi.org/10.1111/..
 
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6

A novel partial duplication in OPHN1, associated with vermi..:

Kirola, Laxmi ; Norris, Joy ; Holloway, Lynda...
Gene Reports.  27 (2022)  - p. 101590 , 2022
Link: https://doi.org/10.1016/..
 
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7

Ichthyosis, petechiae, and arthrogryposis in a neonate:

Haller, Courtney N. ; Paladichuk, Hana ; Ziats, Catherine A...
Pediatric Dermatology.  40 (2022)  2 - p. 352-354 , 2022
Link: https://doi.org/10.1111/..
 
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8

Clinical and functional characterization of germline PIK3CA..:

Cooley Coleman, Jessica A ; Gass, Jennifer M ; Srikanth, Sujata...
Human Molecular Genetics.  32 (2022)  9 - p. 1457-1465 , 2022
Link: https://doi.org/10.1093/..
 
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9

Superficial abdominal reflex in syringomyelia: Associations..:

Nadel, Jeffrey L. ; Ziats, Catherine ; Mossner, James M....
Journal of Clinical Neuroscience.  98 (2022)  - p. 1-5 , 2022
Link: https://doi.org/10.1016/..
 
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10

Syndromic Autism Revisited: Review of the Literature and Le..:

Ziats, Catherine A. ; Patterson, Wesley G. ; Friez, Michael
Pediatric Neurology.  114 (2021)  - p. 21-25 , 2021
Link: https://doi.org/10.1016/..
 
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11

3-Methylglutaconic aciduria in carriers of primary carnitin..:

Ziats, Catherine A. ; Burns, William B. ; Tedder, Matt L....
European Journal of Medical Genetics.  64 (2021)  12 - p. 104365 , 2021
Link: https://doi.org/10.1016/..
 
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12

Alterations in respiratory epithelial gene SPDEF segregate ..:

Ziats, Catherine ; Jones, Julie ; Ziats, Mark.
Molecular Genetics and Metabolism.  132 (2021)  - p. S325 , 2021
Link: https://doi.org/10.1016/..
 
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13

Using pyrosequencing to determine the allele origin of 15q ..:

Patterson, Wesley ; Abidi, Fatima ; Gass, Jennifer M....
Molecular Genetics and Metabolism.  132 (2021)  - p. S256-S257 , 2021
Link: https://doi.org/10.1016/..
 
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14

Neurofibromatosis type 2 in Phelan-McDermid syndrome: Insti..:

Ziats, Catherine A. ; Jain, Lavanya ; McLarney, Brittany...
European Journal of Medical Genetics.  63 (2020)  11 - p. 104042 , 2020
Link: https://doi.org/10.1016/..
 
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15

Functional genomics analysis of Phelan-McDermid syndrome 22..:

Ziats, Catherine A. ; Grosvenor, Luke P. ; Sarasua, Sara M....
PLOS ONE.  14 (2019)  3 - p. e0213921 , 2019
Link: https://doi.org/10.1371/..
 
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