Author

Michael Braun

Baylor College of MedicineORCID 0000-0001-7422-059XUnclaimed ORCID profile · follow to get notified of new preprints

Additional preprints under this name without ORCID

Michael Braun1 paper · University of Manchester

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Assay:whole-exome sequencing· 2 Approach:experimental assay· 1 Organism:human· 1 Organism:mouse· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Dolores J. LambiD· 2 shared Mir Reza BekheirniaiD· 2 shared Nasim BekheirniaiD· 2 shared Aisha Mohamed Saeed Mohamed Al Shamsi· 1 shared Alexandria T.M. BlackburniD· 1 shared Angela E. ScheuerleiD· 1 shared Christine M. EngiD· 1 shared David Rodriguez‐BuriticaiD· 1 shared

Activity by Year

2019-2020 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Dolores J. LambORCID

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2 papers

Recent·Most cited

Clinical utility of genetic and genomic testing in the precision diagnosis and management of pediatric patients with kidney and urinary tract diseases

Nasim Bekheirnia, Kevin E. Glinton, Linda Z. Rossetti, Joshua Manor, Wuyan Chen, Dolores J. Lamb, Michael Braun, Mir Reza Bekheirnia

This study evaluates the clinical utility of genetic and genomic testing in pediatric kidney and urinary tract diseases, finding a 49% diagnostic yield and impact on treatment and diagnosis.

Kidney360 · Oct 30, 2020Peer-reviewedGenetic & Genomic Medicine

DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract

Alexandria T.M. Blackburn, Nasim Bekheirnia, Vanessa C. Uma, Mark E. Corkins, Yuxiao Xu, Jill Anne Rosenfeld, Matthew N. Bainbridge, Yaping Yang, Pengfei Liu, Suneeta Madan‐Khetarpal, Mauricio R. Delgado, Louanne Hudgins, Ian D. Krantz, David Rodriguez‐Buritica, Patricia G. Wheeler, , Mir Reza Bekheirnia

The paper investigates congenital kidney and urinary tract anomalies and genital defects in DYRK1A mutation carriers, showing DYRK1A's role in genitourinary development through Xenopus studies.

Genetics in Medicine · Jul 1, 2019Peer-reviewedGenetics