Mert Karakaya

Kerpener Str. 34
Koeln, NW 50931, Germany

Last Updated: 09/26/2026

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Found 40 publications

Severe Prenatal Presentation of Adenylosuccinate Lyase Deficiency Caused by a Synonymous ADSL Variant Inducing Aberrant Splicing.

Severe Prenatal Presentation of Adenylosuccinate Lyase Deficiency Caused by a Synonymous ADSL Variant Inducing Aberrant Splicing.

Journal: Prenatal diagnosis

Published: November 28, 2025

Who Am I? Eyebrow Follicles Minimize Donor-Derived DNA for Germline Testing After Hematopoietic Stem Cell Transplantation.

Who Am I? Eyebrow Follicles Minimize Donor-Derived DNA for Germline Testing After Hematopoietic Stem Cell Transplantation.

Journal: International journal of molecular sciences

Published: November 20, 2025

Correction: ELMO2-related intraosseous vascular malformation: new cases with novel pathogenic variants, clinical follow-up and therapeutic approaches.

Correction: ELMO2-related intraosseous vascular malformation: new cases with novel pathogenic variants, clinical follow-up and therapeutic approaches.

Journal: European journal of human genetics : EJHG

Published: October 28, 2025

SMN1 variants identified by false-positive SMA newborn screening tests: Therapeutic hurdles and functional and epidemiological solutions.

SMN1 variants identified by false-positive SMA newborn screening tests: Therapeutic hurdles and functional and epidemiological solutions.

Journal: American journal of human genetics

Published: October 18, 2025

The POLG Variant c.678G>C; p.(Gln226His) Is Associated with Mitochondrial Abnormalities in Fibroblasts Derived from a Patient Compared to a First-Degree Relative.

The POLG Variant c.678G>C; p.(Gln226His) Is Associated with Mitochondrial Abnormalities in Fibroblasts Derived from a Patient Compared to a First-Degree Relative.

Journal: Genes

Published: January 20, 2025

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.

Journal: Research square

Published: June 21, 2024

ELMO2-related intraosseous vascular malformation: new cases with novel pathogenic variants, clinical follow-up and therapeutic approaches.

ELMO2-related intraosseous vascular malformation: new cases with novel pathogenic variants, clinical follow-up and therapeutic approaches.

Journal: European journal of human genetics : EJHG

Published: May 17, 2024

Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders.

Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: October 17, 2023

Proteomic Investigation of Differential Interactomes of Glypican 1 and a Putative Disease-Modifying Variant of Ataxia.

Proteomic Investigation of Differential Interactomes of Glypican 1 and a Putative Disease-Modifying Variant of Ataxia.

Journal: Journal of proteome research

Published: August 16, 2023

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.

Journal: medRxiv : the preprint server for health sciences

Published: July 28, 2023

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.

Journal: American journal of human genetics

Published: December 03, 2021

VPS13D: One Family, Same Mutations, Two Phenotypes.

VPS13D: One Family, Same Mutations, Two Phenotypes.

Journal: Movement disorders clinical practice

Published: January 06, 2021

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Last Updated: 09/26/2026