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Zeynep Coban Akdemir
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1

Exome sequencing implicates ancestry-related Mendelian vari..:

Copeland, Ian ; Wonkam-Tingang, Edmond ; Gupta-Malhotra, Monesha...
JCI Insight.  9 (2024)  9 - p. , 2024
Link: https://doi.org/10.1172/..
 
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2

Bi-allelic TTI1 variants cause an autosomal-recessive neuro..:

Serey-Gaut, Margaux ; Cortes, Marisol ; Makrythanasis, Periklis...
The American Journal of Human Genetics.  110 (2023)  3 - p. 499-515 , 2023
Link: https://doi.org/10.1016/..
 
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3

Rare variant enrichment analysis supports GREB1L as a contr..:

Jolly, Angad ; Du, Haowei ; Borel, Christelle...
Human Genetics and Genomics Advances.  4 (2023)  3 - p. 100188 , 2023
Link: https://doi.org/10.1016/..
 
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4

Bi-allelic CAMSAP1 variants cause a clinically recognizable..:

Khalaf-Nazzal, Reham ; Fasham, James ; Inskeep, Katherine A....
The American Journal of Human Genetics.  109 (2022)  11 - p. 2068-2079 , 2022
Link: https://doi.org/10.1016/..
 
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5

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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6

Genetic errors of immunity distinguish pediatric nonmaligna..:

Forbes, Lisa R. ; Eckstein, Olive S. ; Gulati, Nitya...
Journal of Allergy and Clinical Immunology.  149 (2022)  2 - p. 758-766 , 2022
Link: https://doi.org/10.1016/..
 
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7

Dominant mitochondrial membrane protein-associated neurodeg..:

Rickman, Olivia J. ; Salter, Claire G. ; Gunning, Adam C....
Parkinsonism & Related Disorders.  82 (2021)  - p. 84-86 , 2021
Link: https://doi.org/10.1016/..
 
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8

Multilocus pathogenic variation in ZC4H2, MUSK, CAPN3, and ..:

Herman, Isabella ; Marafi, Dana ; Abdelsalam, Ghada...
Neurology.  96 (2021)  15_supplement - p. , 2021
Link: https://doi.org/10.1212/..
 
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9

Alternative genomic diagnoses for individuals with a clinic..:

Dyment, David A. ; O'Donnell‐Luria, Anne ; Agrawal, Pankaj B....
American Journal of Medical Genetics Part A.  185 (2020)  1 - p. 119-133 , 2020
Link: https://doi.org/10.1002/..
 
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10

Functional biology of the Steel syndrome founder allele and..:

Baylor-Hopkins Center for Mendelian Genetics, Regeneron Genetics Center ; Gonzaga-Jauregui, Claudia ; Yesil, Gozde...
European Journal of Human Genetics.  28 (2020)  9 - p. 1243-1264 , 2020
Link: https://doi.org/10.1038/..
 
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11

Cover:

Lin, Mao ; Liu, Zhenlei ; Liu, Gang...
Molecular Genetics & Genomic Medicine.  8 (2020)  1 - p. , 2020
Link: https://doi.org/10.1002/..
 
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12

HEM1 deficiency disrupts mTORC2 and F-actin control in inhe..:

Cook, Sarah A. ; Comrie, William A. ; Poli, M. Cecilia...
Science.  369 (2020)  6500 - p. 202-207 , 2020
Link: https://doi.org/10.1126/..
 
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13

Exome sequencing reveals novel candidate genes and potentia..:

Pehlivan, Davut ; Bayram, Yavuz ; Akdemir, Zeynep Coban...
Neurology.  92 (2019)  15_supplement - p. , 2019
Link: https://doi.org/10.1212/..
 
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14

A combined immunodeficiency with severe infections, inflamm..:

Volpi, Stefano ; Cicalese, Maria Pia ; Tuijnenburg, Paul...
Journal of Allergy and Clinical Immunology.  143 (2019)  6 - p. 2296-2299 , 2019
Link: https://doi.org/10.1016/..
 
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15

Biallelic and De Novo Variants in DONSON Reveal a Clinical ..:

Karaca, Ender ; Posey, Jennifer E. ; Bostwick, Bret...
American Journal of Medical Genetics Part A.  179 (2019)  10 - p. 2056-2066 , 2019
Link: https://doi.org/10.1002/..
 
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