Publications by authors named "Birgit S Budde"

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Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumors.
Ghada M H Abdel-Salam, Susanne Hellmuth, Elise Gradhand, Stephan Käseberg, Jennifer Winter, Birgit S Budde

JCI Insight· November 2023

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variants of cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway.
Maria Asif, Emrah Kaygusuz, Marwan Shinawi, Anna Nickelsen, Tzung-Chien Hsieh, Birgit S Budde

HGG Adv· July 2022

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A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome.
Emrah Kaygusuz, Arwa Ishaq A Khayyat, Uzma Abdullah, Birgit Susanne Budde, Maria Asif

Clin Genet· October 2021

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Comprehensive molecular analysis of 61 Egyptian families with hereditary nonsyndromic hearing loss.
Birgit S Budde, Maha Abdelgaber Aly, Mostafa R Mohamed, Andreas Breß, Janine Altmüller

Clin Genet· July 2020

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Biallelic mutation of human encoding the taurine transporter TAUT is linked to early retinal degeneration.
Markus N Preising, Boris Görg, Christoph Friedburg, Natalia Qvartskhava, Birgit S Budde

FASEB J· October 2019

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First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene.
Dominika Oziębło, Anna Sarosiak, Marcin L Leja, Birgit S Budde, Grażyna Tacikowska

J Transl Med· October 2019

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Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3.
Birgit S Budde, Shuji Mizumoto, Ryo Kogawa, Christian Becker, Janine Altmüller

Hum Genet· July 2015

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A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia.
Katja Stange, Julie Désir, Naseebullah Kakar, Thomas D Mueller, Birgit S Budde

Orphanet J Rare Dis· June 2015

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Enrichment of target sequences for next-generation sequencing applications in research and diagnostics.
Janine Altmüller, Birgit S Budde, Peter Nürnberg

Biol Chem· February 2014

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Gsdma3(I359N) is a novel ENU-induced mutant mouse line for studying the function of Gasdermin A3 in the hair follicle and epidermis.
Sudhir Kumar, Birgit Rathkolb, Birgit S Budde, Peter Nürnberg, Martin Hrabé de Angelis

J Dermatol Sci· September 2012

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tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.
Birgit S Budde, Yasmin Namavar, Peter G Barth, Bwee Tien Poll-The, Gudrun Nürnberg

Nat Genet· September 2008

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Noncompaction of the ventricular myocardium is associated with a de novo mutation in the beta-myosin heavy chain gene.
Birgit S Budde, Priska Binner, Stephan Waldmüller, Wolfgang Höhne, Wulf Blankenfeldt

PLoS One· December 2007

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Genes from Chagas susceptibility loci that are differentially expressed in T. cruzi-resistant mice are candidates accounting for impaired immunity.
Sebastian E B Graefe, Thomas Streichert, Birgit S Budde, Peter Nürnberg, Christiane Steeg

PLoS One· December 2006

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