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Hurst, Anna C. E.
1651  results:
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1

Developmental epileptic encephalopathy in DLG4‐related syna..:

Kassabian, Benedetta ; Levy, Amanda M. ; Gardella, Elena...
Epilepsia.  65 (2024)  4 - p. 1029-1045 , 2024
Link: https://doi.org/10.1111/..
 
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2

DLG2 intragenic exonic deletions reinforce the link to neur..:

Chen, Yunjia ; Karaca, Ender ; Robin, Nathaniel H....
Genetics in Medicine.  26 (2024)  1 - p. 101010 , 2024
Link: https://doi.org/10.1016/..
 
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3

Menke-Hennekam syndrome; delineation of domain-specific sub..:

Haghshenas, Sadegheh ; Bout, Hidde J. ; Schijns, Josephine M....
Human Genetics and Genomics Advances.  5 (2024)  3 - p. 100287 , 2024
Link: https://doi.org/10.1016/..
 
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4

De novo variants predicting haploinsufficiency for DIP2C ar..:

Ha, Thoa ; Morgan, Angela ; Bartos, Meghan N....
American Journal of Medical Genetics Part A.  194 (2024)  7 - p. , 2024
Link: https://doi.org/10.1002/..
 
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5

Heterozygous loss-of-function variants in DOCK4 cause neuro..:

Herbst, Charlotte ; Bothe, Viktoria ; Wegler, Meret...
Human Genetics.  143 (2024)  3 - p. 455-469 , 2024
Link: https://doi.org/10.1007/..
 
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6

Listening to patients with suspected genetic diagnoses: A n..:

Slocum, Robert B. ; Hurst, Anna C. E. ; Shelley, Ellis...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics.  , 2023
Link: https://doi.org/10.1002/..
 
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7

A cost-utility analysis of BRCA1 and BRCA2 testing in high-..:

Lertwilaiwittaya, Pongtawat ; Tantai, Narisa ; Maneeon, Satanun...
Frontiers in Public Health.  11 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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8

Poison exon annotations improve the yield of clinically rel..:

Felker, Stephanie A. ; Lawlor, James M.J. ; Hiatt, Susan M....
Genetics in Medicine.  25 (2023)  8 - p. 100884 , 2023
Link: https://doi.org/10.1016/..
 
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9

THU243 Fitting Together The Pieces Of The Puzzle Between Is..:

Buchanan, Katherine Virginia ; Hurst, Anna C E ; Ashraf, Ambika P
Journal of the Endocrine Society.  7 (2023)  Supplement_1 - p. , 2023
Link: https://doi.org/10.1210/..
 
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10

A qualitative evaluation of patient and parent experiences ..:

Siebold, Dorothea ; Denton, Jessica ; Hurst, Anna C. E...
American Journal of Medical Genetics Part A.  194 (2023)  2 - p. 131-140 , 2023
Link: https://doi.org/10.1002/..
 
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11

De novo variants of CSNK2B cause a new intellectual disabil..:

Asif, Maria ; Kaygusuz, Emrah ; Shinawi, Marwan...
Human Genetics and Genomics Advances.  3 (2022)  3 - p. 100111 , 2022
Link: https://doi.org/10.1016/..
 
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12

DNA Methylation Signature for JARID2-Neurodevelopmental Syn..:

Verberne, Eline A. ; van der Laan, Liselot ; Haghshenas, Sadegheh...
International Journal of Molecular Sciences.  23 (2022)  14 - p. 8001 , 2022
Link: https://doi.org/10.3390/..
 
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13

Case report: 11-ketotestosterone may potentiate advanced bo..:

Buchanan, Katherine ; Greenup, Erin ; Hurst, Anna C. E...
Frontiers in Endocrinology.  13 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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14

Perspectives on the future of dysmorphology:

Solomon, Benjamin D. ; Adam, Margaret P. ; Fong, Chin‐To...
American Journal of Medical Genetics Part A.  191 (2022)  3 - p. 659-671 , 2022
Link: https://doi.org/10.1002/..
 
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15

Activating RAC1 variants in the switch II region cause a de..:

Banka, Siddharth ; Bennington, Abigail ; Baker, Martin J...
Brain.  145 (2022)  12 - p. 4232-4245 , 2022
Link: https://doi.org/10.1093/..
 
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