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Akay, Gulsen
39  results:
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1

P317: Phenotypic variability among three family members wit..:

Cole, Stacey ; Shayota, Brian ; Taliercio, Vanina...
Genetics in Medicine Open.  2 (2024)  - p. 101211 , 2024
Link: https://doi.org/10.1016/..
 
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2

P166: MEK inhibitor therapy for lymphatic malformations: A ..:

Taliercio, Vanina ; Selvam, Pavalan ; Akay, Gulsen...
Genetics in Medicine Open.  2 (2024)  - p. 101063 , 2024
Link: https://doi.org/10.1016/..
 
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3

P321: Expanding the phenotypic spectrum of Currarino syndro..:

Taliercio, Vanina ; Akay, Gulsen ; Selvam, Pavalan Panneer..
Genetics in Medicine Open.  1 (2023)  1 - p. 100349 , 2023
Link: https://doi.org/10.1016/..
 
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4

A biallelic frameshift indel in PPP1R35 as a cause of prima..:

Dawood, Moez ; Akay, Gulsen ; Mitani, Tadahiro...
American Journal of Medical Genetics Part A.  191 (2023)  3 - p. 794-804 , 2023
Link: https://doi.org/10.1002/..
 
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5

Brain monoamine vesicular transport disease caused by homoz..:

Saida, Ken ; Maroofian, Reza ; Sengoku, Toru...
Genetics in Medicine.  25 (2023)  1 - p. 90-102 , 2023
Link: https://doi.org/10.1016/..
 
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6

P096: QRICH1-related disorder: Phenotype expansion vs blend..:

Akay, Gulsen ; Taliercio, Vanina ; Palumbos, Janice.
Genetics in Medicine Open.  1 (2023)  1 - p. 100125 , 2023
Link: https://doi.org/10.1016/..
 
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7

Novel dominant and recessive variants in human ROBO1 cause ..:

Huang, Yan ; Ma, Mengqi ; Mao, Xiao...
Human Molecular Genetics.  31 (2022)  16 - p. 2751-2765 , 2022
Link: https://doi.org/10.1093/..
 
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8

MO047: Biallelic pathogenic variants in ROBO1 associate wit..:

Münch, Johannes ; Engesser, Marie ; Schönauer, Ria...
Nephrology Dialysis Transplantation.  37 (2022)  Supplement_3 - p. , 2022
Link: https://doi.org/10.1093/..
 
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9

Developmental genomics of limb malformations: Allelic serie..:

Duan, Ruizhi ; Hijazi, Hadia ; Gulec, Elif Yilmaz...
Human Genetics and Genomics Advances.  3 (2022)  4 - p. 100132 , 2022
Link: https://doi.org/10.1016/..
 
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10

Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B ..:

Taşdelen, Elifcan ; Calame, Daniel G. ; Akay, Gulsen...
American Journal of Medical Genetics Part A.  188 (2022)  7 - p. 2153-2161 , 2022
Link: https://doi.org/10.1002/..
 
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11

Centers for Mendelian Genomics: A decade of facilitating ge..:

Baxter, Samantha M. ; Posey, Jennifer E. ; Lake, Nicole J....
Genetics in Medicine.  24 (2022)  4 - p. 784-797 , 2022
Link: https://doi.org/10.1016/..
 
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12

Risk of sudden cardiac death in EXOSC5‐related disease:

Calame, Daniel G. ; Herman, Isabella ; Fatih, Jawid M....
American Journal of Medical Genetics Part A.  185 (2021)  8 - p. 2532-2540 , 2021
Link: https://doi.org/10.1002/..
 
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13

High prevalence of multilocus pathogenic variation in neuro..:

Mitani, Tadahiro ; Isikay, Sedat ; Gezdirici, Alper...
The American Journal of Human Genetics.  108 (2021)  10 - p. 1981-2005 , 2021
Link: https://doi.org/10.1016/..
 
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14

Phenotype of CM-AVM2 caused by variants in EPHB4: how much ..:

Wooderchak-Donahue, Whitney L. ; Akay, Gulsen ; Whitehead, Kevin...
Genetics in Medicine.  21 (2019)  9 - p. 2007-2014 , 2019
Link: https://doi.org/10.1038/..
 
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15

Bi-allelic ACBD6 variants lead to a neurodevelopmental synd..:

Kaiyrzhanov, Rauan ; Rad, Aboulfazl ; Lin, Sheng-Jia...
Brain.  147 (2023)  4 - p. 1436-1456 , 2023
Link: https://doi.org/10.1093/..
 
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