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Yigit, Gökhan
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1

Expansion of the complex genotypic and phenotypic spectrum ..:

Schmidt, Julia ; Kaulfuß, Silke ; Ott, Hagen...
Human Genetics.  143 (2024)  2 - p. 159-168 , 2024
Link: https://doi.org/10.1007/..
 
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2

Functional characterization of PI3K C2 domain mutations det..:

Smit, Daniel J. ; Brauer, Helena ; Horn, Stefan...
Cellular Signalling.  , 2024
Link: https://doi.org/10.1016/..
 
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3

Homozygous loss-of-function variants in FILIP1 cause autoso..:

Schnabel, Franziska ; Schuler, Elisabeth ; Al-Maawali, Almundher...
Human Genetics.  142 (2023)  4 - p. 543-552 , 2023
Link: https://doi.org/10.1007/..
 
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4

The challenges of research data management in cardiovascula..:

Steffens, Sabine ; Schröder, Katrin ; Krüger, Martina...
Clinical Research in Cardiology.  113 (2023)  5 - p. 672-679 , 2023
Link: https://doi.org/10.1007/..
 
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5

Expanding the spectrum of EEF1D neurodevelopmental disorder..:

Averdunk, Luisa ; Al‐Thihli, Khalid ; Surowy, Harald...
Clinical Genetics.  103 (2023)  4 - p. 484-491 , 2023
Link: https://doi.org/10.1111/..
 
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Lysinuric protein intolerance caused by a homozygous SLC7A7..:

Kalay, Irem ; Aykut, Hüseyin ; Caliskan, Zuhal..
Molecular Genetics and Metabolism Reports.  37 (2023)  - p. 101022 , 2023
Link: https://doi.org/10.1016/..
 
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7

Null and missense mutations of ERI1 cause a recessive pheno..:

Guo, Long ; Salian, Smrithi ; Xue, Jing-yi...
The American Journal of Human Genetics.  110 (2023)  7 - p. 1068-1085 , 2023
Link: https://doi.org/10.1016/..
 
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8

The genetic spectrum of congenital ocular motor apraxia typ..:

Schröder, Simone ; Yigit, Gökhan ; Li, Yun...
Orphanet Journal of Rare Diseases.  18 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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9

Phenotypic spectrum of BLM‐ and RMI1‐related Bloom syndrome:

Gönenc, Ipek Ilgin ; Elcioglu, Nursel H. ; Martinez Grijalva, Carolina...
Clinical Genetics.  101 (2022)  5-6 - p. 559-564 , 2022
Link: https://doi.org/10.1111/..
 
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10

Single-cell transcription profiles in Bloom syndrome patien..:

Gönenc, Ipek Ilgin ; Wolff, Alexander ; Schmidt, Julia...
Human Molecular Genetics.  31 (2022)  13 - p. 2185-2193 , 2022
Link: https://doi.org/10.1093/..
 
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11

Somatic mosaicism in STAG2-associated cohesinopathies: Expa..:

Schmidt, Julia ; Dreha-Kulaczewski, Steffi ; Zafeiriou, Maria-Patapia...
Frontiers in Cell and Developmental Biology.  10 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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12

A novel single-cell RNA-sequencing approach and its applica..:

Shomroni, Orr ; Sitte, Maren ; Schmidt, Julia...
Scientific Reports.  12 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
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13

WARS1andSARS1: Two tRNA synthetases implicated in autosomal..:

Bögershausen, Nina ; Krawczyk, Hannah E. ; Jamra, Rami A....
Human Mutation.  43 (2022)  10 - p. 1454-1471 , 2022
Link: https://doi.org/10.1002/..
 
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14

MFSD2A-associated primary microcephaly - Expanding the clin..:

Khuller, Katharina ; Yigit, Gökhan ; Martínez Grijalva, Carolina...
European Journal of Medical Genetics.  64 (2021)  10 - p. 104310 , 2021
Link: https://doi.org/10.1016/..
 
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15

Genomic basis of syndromic short stature in an Algerian pat..:

Moosa, Shahida ; Chentli, Farida ; Altmüller, Janine...
American Journal of Medical Genetics Part A.  188 (2021)  2 - p. 606-612 , 2021
Link: https://doi.org/10.1002/..
 
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