Publications by authors named "Birgit Budde"

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Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotonia.
Maria Asif, Arwa Ishaq A Khayyat, Salem Alawbathani, Uzma Abdullah, Anne Sanner, Birgit Budde

Genet Med· July 2024

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Frequency and functional characterization of fusion genes in squamous cell carcinoma of the lung.
Christina Alidousty, Arvid Becker, Elke Binot, Axel M Hillmer, Sabine Merkelbach-Bruse, Birgit Budde

Gene· February 2024

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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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A novel MAP3K20 mutation causing centronuclear myopathy-6 with fiber-type disproportion in a Pakistani family.
Ilyas Ahmad, Ayaz Khan, Hafiza Noor Ul Ayan, Birgit Budde, Janine Altmüller

J Hum Genet· February 2023

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Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling.
William Dufour, Salem Alawbathani, Anne-Sophie Jourdain, Maria Asif, Geneviève Baujat, Birgit Budde

Genet Med· August 2022

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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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Author Correction: Mutations in PYCR1 cause cutis laxa with progeroid features.
Bruno Reversade, Nathalie Escande-Beillard, Aikaterini Dimopoulou, Björn Fischer, Serene C Chng, Birgit Budde

Nat Genet· February 2022

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Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies.
Maria Iqbal, Reza Maroofian, Büşranur Çavdarlı, Florence Riccardi, Michael Field, Birgit Budde

Genet Med· November 2021

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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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A Homozygous Frameshift Variant Is Associated with Microcephaly in a Pakistani Family.
Syeda Seema Waseem, Abubakar Moawia, Birgit Budde, Muhammad Tariq, Ayaz Khan

Genes (Basel)· September 2021

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Absence of Goniodysgenesis in Patients with Chromosome 13Q Microdeletion-Related Microcoria.
Christina Gerth-Kahlert, Jordi Maggi, Marc Töteberg-Harms, Amit Tiwari, Birgit Budde

Ophthalmol Glaucoma· August 2021

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Modifier Genes in Microcephaly: A Report on , , and Variants Exacerbating Disease Caused by Biallelic Mutations of and .
Ehtisham Ul Haq Makhdoom, Syeda Seema Waseem, Maria Iqbal, Uzma Abdullah, Ghulam Hussain, Birgit Budde

Genes (Basel)· May 2021

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An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan.
Sajida Rasool, Jamshaid Mahmood Baig, Abubakar Moawia, Ilyas Ahmad, Maria Iqbal, Birgit Budde

Mol Genet Genomic Med· September 2020

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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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Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome.
Daniela A Braun, Svjetlana Lovric, David Schapiro, Ronen Schneider, Jonathan Marquez, Birgit Budde

J Clin Invest· October 2018

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Mutations of KIF14 cause primary microcephaly by impairing cytokinesis.
Abubakar Moawia, Ranad Shaheen, Sajida Rasool, Syeda Seema Waseem, Nour Ewida, Birgit Budde

Ann Neurol· October 2017

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CDK5RAP2 interaction with components of the Hippo signaling pathway may play a role in primary microcephaly.
Salil K Sukumaran, Maria Stumpf, Sarah Salamon, Ilyas Ahmad, Kurchi Bhattacharya, Birgit Budde

Mol Genet Genomics· April 2017

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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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Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation.
Hans Knoblauch, Christian Geier, Stephanie Adams, Birgit Budde, André Rudolph

Ann Neurol· January 2010

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Mutations in PYCR1 cause cutis laxa with progeroid features.
Bruno Reversade, Nathalie Escande-Beillard, Aikaterini Dimopoulou, Björn Fischer, Serene C Chng, Birgit Budde

Nat Genet· September 2009

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