Bjorn Zirnsak-Fischer

Berlin, BE, Germany

Last Updated: 09/26/2026

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Found 42 publications

A homozygous lamin B receptor variant resulting in Pelger-Huët anomaly without skeletal dysplasia.

A homozygous lamin B receptor variant resulting in Pelger-Huët anomaly without skeletal dysplasia.

Journal: Nucleus (Austin, Tex.)

Published: August 20, 2026

Identification of biallelic loss-of-function PREP variants in three individuals with syndromic intellectual disability.

Identification of biallelic loss-of-function PREP variants in three individuals with syndromic intellectual disability.

Journal: Journal of medical genetics

Published: January 14, 2026

A biallelic MRPL42 variant causes a combined oxidative phosphorylation deficiency syndrome revealed by multi-omics.

A biallelic MRPL42 variant causes a combined oxidative phosphorylation deficiency syndrome revealed by multi-omics.

Journal: NPJ genomic medicine

Published: November 17, 2025

A missing enzyme-rescue metabolite as cause of a rare skeletal dysplasia.

A missing enzyme-rescue metabolite as cause of a rare skeletal dysplasia.

Journal: Nature

Published: August 20, 2024

Golgi pH elevation due to loss of V-ATPase subunit V0a2 function correlates with tissue-specific glycosylation changes and globozoospermia.

Golgi pH elevation due to loss of V-ATPase subunit V0a2 function correlates with tissue-specific glycosylation changes and globozoospermia.

Journal: Cellular and molecular life sciences : CMLS

Published: January 02, 2024

Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy.

Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy.

Journal: Human genetics

Published: November 30, 2023

AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia.

AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia.

Journal: American journal of human genetics

Published: April 07, 2023

Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis.

Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis.

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

Published: February 28, 2023

Aorto-aortic bypass in an infant with middle aortic syndrome and Marfan syndrome: a 15-year follow-up.

Aorto-aortic bypass in an infant with middle aortic syndrome and Marfan syndrome: a 15-year follow-up.

Journal: Interdisciplinary cardiovascular and thoracic surgery

Published: August 25, 2022

Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis.

Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis.

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

Published: March 14, 2022

AutozygosityMapper: Identification of disease-mutations in consanguineous families.

AutozygosityMapper: Identification of disease-mutations in consanguineous families.

Journal: Nucleic acids research

Published: March 08, 2022

Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features.

Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features.

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

Published: February 14, 2022

Showing 1-12 of 42

Last Updated: 09/26/2026