Birgit S. Budde

Koeln, NW 50931, Germany

Last Updated: 09/26/2026

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Found 24 publications

Integrative genetic and functional analysis of autosomal dominant hearing loss in 108 multigenerational families.

Integrative genetic and functional analysis of autosomal dominant hearing loss in 108 multigenerational families.

Journal: Journal of molecular medicine (Berlin, Germany)

Published: March 09, 2026

Frequency and functional characterization of fusion genes in squamous cell carcinoma of the lung.

Frequency and functional characterization of fusion genes in squamous cell carcinoma of the lung.

Journal: Gene

Published: June 27, 2023

Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotonia.

Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotonia.

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

Published: May 31, 2023

Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumors.

Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumors.

Journal: JCI insight

Published: February 27, 2023

A novel MAP3K20 mutation causing centronuclear myopathy-6 with fiber-type disproportion in a Pakistani family.

A novel MAP3K20 mutation causing centronuclear myopathy-6 with fiber-type disproportion in a Pakistani family.

Journal: Journal of human genetics

Published: May 10, 2022

Author Correction: Mutations in PYCR1 cause cutis laxa with progeroid features.

Author Correction: Mutations in PYCR1 cause cutis laxa with progeroid features.

Journal: Nature genetics

Published: January 22, 2022

Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling.

Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling.

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

Published: December 29, 2021

De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway.

De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway.

Journal: HGG advances

Published: November 29, 2021

A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family.

A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family.

Journal: Genes

Published: August 23, 2021

A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome.

A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome.

Journal: Clinical genetics

Published: May 24, 2021

Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ.

Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ.

Journal: Genes

Published: April 16, 2021

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies.

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies.

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

Published: March 19, 2021

Showing 1-12 of 24

Last Updated: 09/26/2026