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B. Budde · SciRah

Researcher profile · Semantic Scholar

B. Budde

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B. Budde — researcher profile on SciRah

h-index: 21
Works: 48
Citations: 2,125

Most-cited papers

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2
U. Kornak, E. Reynders, Aikaterini Dimopoulou, J. van Reeuwijk +16 more
2008Nature Genetics367 citations Open access
Semantic Scholar
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia
B. Budde, Y. Namavar, P. Barth, B. Poll-The +34 more
2008Nature Genetics264 citations Open access
Semantic Scholar
Mutations in PYCR1 cause cutis laxa with progeroid features
B. Reversade, N. Escande-Beillard, Aikaterini Dimopoulou, B. Fischer +43 more
2009Nature Genetics251 citations
Semantic Scholar
Noncompaction of the Ventricular Myocardium Is Associated with a De Novo Mutation in the β-Myosin Heavy Chain Gene
B. Budde, P. Binner, S. Waldmüller, W. Höhne +14 more
2007PLoS ONE160 citations Open access
Semantic Scholar
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin
H. Hennies, U. Kornak, Hai-Kuo Zhang, J. Egerer +22 more
2008Nature Genetics159 citations Open access
Semantic Scholar
Structural and functional abnormalities of retinal ribbon synapses due to Cacna2d4 mutation.
K. Wycisk, B. Budde, Silke Feil, S. Skosyrski +6 more
2006Investigative Ophthalmology and Visual Science140 citations
Semantic Scholar
Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome
Daniela A. Braun, S. Lovric, D. Schapiro, Ronen Schneider +54 more
2018Journal of Clinical Investigation110 citations Open access
Semantic Scholar
Mutations of KIF14 cause primary microcephaly by impairing cytokinesis
A. Moawia, R. Shaheen, Sajida Rasool, S. S. Waseem +22 more
2017Annals of Neurology81 citations
Semantic Scholar
Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation
H. Knoblauch, C. Geier, S. Adams, B. Budde +9 more
2010Annals of Neurology69 citations
Semantic Scholar
Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman
A. Rajab, U. Kornak, B. Budde, K. Hoffmann +3 more
2008American Journal of Medical Genetics. Part A56 citations
Semantic Scholar
Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration
Markus N. Preising, B. Görg, C. Friedburg, Natalia Qvartskhava +19 more
2019The FASEB Journal53 citations
Semantic Scholar
Enrichment of target sequences for next-generation sequencing applications in research and diagnostics
J. Altmuller, B. Budde, P. Nürnberg
2013Biological chemistry38 citations
Semantic Scholar
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, A. Moawia, I. Ahmad +23 more
2020Molecular Genetics & Genomic Medicine34 citations Open access
Semantic Scholar
Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3
B. Budde, S. Mizumoto, R. Kogawa, C. Becker +10 more
2015Human Genetics33 citations
Semantic Scholar
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, B. Rathkolb, B. Budde, P. Nürnberg +3 more
2012Journal of dermatological science (Amsterdam)32 citations
Semantic Scholar
Comprehensive molecular analysis of 61 Egyptian families with hereditary nonsyndromic hearing loss
B. Budde, M. Aly, Mostafa R. Mohamed, Andreas Bress +12 more
2020Clinical Genetics26 citations Open access
Semantic Scholar
Mutation in a novel connexin-like gene (Gjf1) in the mouse affects early lens development and causes a variable small-eye phenotype.
O. Puk, J. Löster, C. Dalke, D. Soewarto +6 more
2008Investigative Ophthalmology and Visual Science26 citations Open access
Semantic Scholar
CDK5RAP2 interaction with components of the Hippo signaling pathway may play a role in primary microcephaly
S. Sukumaran, M. Stumpf, Sarah Salamon, I. Ahmad +12 more
2016Zeitschrift für Induktive Abstammungs- und Vererbungslehre24 citations Open access
Semantic Scholar
A common NYX mutation in Flemish patients with X linked CSNB
B. Leroy, B. Budde, M. Wittmer, E. de Baere +2 more
2008British Journal of Ophthalmology22 citations Open access
Semantic Scholar
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies
M. Iqbal, R. Maroofian, Busranur Cavdarli, F. Riccardi +102 more
2021Genetics in Medicine21 citations Open access
Semantic Scholar
A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia
Katja Stange, J. Désir, Naseebullah Kakar, T. Mueller +5 more
2015Orphanet Journal of Rare Diseases21 citations Open access
Semantic Scholar
De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway
M. Asif, Emrah Kaygusuz, M. Shinawi, A. Nickelsen +29 more
2022HGG advances20 citations Open access
Semantic Scholar
A new Fgf10 mutation in the mouse leads to atrophy of the harderian gland and slit-eye phenotype in heterozygotes: a novel model for dry-eye disease?
O. Puk, I. Esposito, Torben Soker, J. Löster +7 more
2009Investigative Ophthalmology and Visual Science18 citations Open access
Semantic Scholar
First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene
D. Oziębło, A. Sarosiak, M. Leja, B. Budde +6 more
2019Journal of Translational Medicine17 citations Open access
Semantic Scholar
Genome‐wide linkage and sequence analysis challenge CCDC66 as a human retinal dystrophy candidate gene and support a distinct NMNAT1‐related fundus phenotype
Arif O. Khan, B. Budde, P. Nürnberg, A. Kawalia +2 more
2018Clinical Genetics14 citations
Semantic Scholar
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, A. Jourdain, M. Asif +21 more
2022Genetics in Medicine13 citations Open access
Semantic Scholar
Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ
Ehtisham Ul Haq Makhdoom, S. S. Waseem, M. Iqbal, Uzma Abdullah +21 more
2021Genes11 citations Open access
Semantic Scholar
Genes from Chagas Susceptibility Loci That Are Differentially Expressed in T. cruzi-Resistant Mice Are Candidates Accounting for Impaired Immunity
S. Graefe, T. Streichert, B. Budde, P. Nürnberg +3 more
2006PLoS ONE11 citations Open access
Semantic Scholar
Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumors
G. Abdel-Salam, Susanne Hellmuth, Elise Gradhand, Stephan Käseberg +30 more
2023JCI Insight8 citations Open access
Semantic Scholar
A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family
S. S. Waseem, A. Moawia, B. Budde, M. Tariq +12 more
2021Genes6 citations Open access
Semantic Scholar
Frequency and Functional Characterization of Fusion Genes in Squamous Cell Carcinoma of the Lung.
C. Alidousty, A. Becker, E. Binot, A. Hillmer +9 more
2023Gene5 citations Open access
Semantic Scholar
A novel MAP3K20 mutation causing centronuclear myopathy-6 with fiber-type disproportion in a Pakistani family
I. Ahmad, Ayaz Khan, Hafiza Noor Ul Ayan, B. Budde +7 more
2022Journal of Human Genetics5 citations Open access
Semantic Scholar
Absence of Goniodysgenesis in Patients with Chromosome 13Q Microdeletion-Related Microcoria.
C. Gerth-Kahlert, Jordi Maggi, M. Töteberg-Harms, Amit Tiwari +4 more
2018Ophthalmology Glaucoma5 citations Open access
Semantic Scholar
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, B. Budde +24 more
2021Clinical Genetics4 citations Open access
Semantic Scholar
Author Correction: Mutations in PYCR1 cause cutis laxa with progeroid features
B. Reversade, N. Escande-Beillard, Aikaterini Dimopoulou, B. Fischer +43 more
2022Nature Genetics3 citations Open access
Semantic Scholar
Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotonia.
M. Asif, Arwa Ishaq A. Khayyat, Salem Alawbathani, Uzma Abdullah +19 more
2024Genetics in Medicine2 citations Open access
Semantic Scholar
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a novel RAB-6 interacting golgin
U. Kornak, H. Hennies, H. Zhang, J. Egerer +16 more
20092 citations
Semantic Scholar
Integrative genetic and functional analysis of autosomal dominant hearing loss in 108 multigenerational families
D. Oziębło, M. Leja, Nina Gan, N. Bałdyga +4 more
2026Journal of molecular medicine1 citations Open access
Semantic Scholar
Mutations in the a2-subunit of the v-type H+-ATPase impair Golgi function and cause a novel congenital disorder of glycosylation with cutix laxa
U. Kornak, E. Reynders, Aikaterini Dimopoulou, Bjoern Fischer +13 more
20081 citations
Semantic Scholar
Corrigendum
Emrah Kaygusuz, Arwa Ishaq A. Khayyat, Uzma Abdullah, B. Budde +26 more
2022Clinical Genetics0 citations Open access
Semantic Scholar
Author response for "Comprehensive molecular analysis of 61 Egyptian families with hereditary nonsyndromic hearing loss"
B. Budde, M. Aly, Mostafa R. Mohamed, Andreas Bress +12 more
20200 citations Open access
Semantic Scholar
North-Carolina Macular dystrophy like phenotype in a three generation pedigree wit autosomal dominant inheritance and exclusion of MCRD1
U. Kellner, H. Stöhr, B. Budde, S. Kellner +4 more
20190 citations
Semantic Scholar
Mutations in KIF14, Encoding Kinesin-Like Protein KIF14, Cause Primary and Syndromic Microcephaly
A. Moawia, S. S. Waseem, B. Budde, A. Noegel +4 more
2017Neuropediatrics0 citations
Semantic Scholar
Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3
B. Budde, S. Mizumoto, R. Kogawa, C. Becker +10 more
2015Human Genetics0 citations
Semantic Scholar
Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by mutation in glucuronyltransferase-I
S. Mizumoto, B. Budde, R. Kogawa, C. Becker +10 more
20150 citations
Semantic Scholar
Treats And Traps Of Homozygosity Mapping: Compound Heterozygosity In Consanguineous Retinal Dystrophy Families
K. Bujakowska, I. Audo, S. Mohand-Said, B. Budde +6 more
20110 citations
Semantic Scholar
O1-3 Pontocerebellar hypoplasias, the emerging causes
B. Poll-The, Y. Namavar, B. Budde, P. Nuernberg +2 more
20090 citations
Semantic Scholar
AKU eCommons
Ehtisham Ul, Haq Makhdoom, S. S. Waseem, M. Iqbal +22 more
0 citations
Semantic Scholar

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