Concepedia

Florian Buerger

FB

12

Publications

384

Citations

11

H-Index

2017

Active since

Affiliations

Harvard University(Current)

Boston Children's Hospital

Brigham and Women's Hospital

Yale University

Rockefeller University

Florian Buerger is an author at Harvard University specializing in medicine, genetics, and genomics.

Top concepts

MedicineGeneticsGenomicsPathologyDevelopmental BiologyNephrologyCell BiologyRenal PathologyMolecular GeneticsHealth

Publications per year

2017–2022

12

Publications

12

Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis

Tilman Jobst‐Schwan, Verena Klämbt, Maureen Tarsio et al. · Kidney International · 2019 · 59 citations · Full text

Urology, Renal Function, Genetics +10

ADCK4 Deficiency Destabilizes the Coenzyme Q Complex, Which Is Rescued by 2,4-Dihydroxybenzoic Acid Treatment

Eugen Widmeier, Seyoung Yu, Anish Nag et al. · Journal of the American Society of Nephrology · 2020 · 59 citations · Full text

Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations

Dervla M. Connaughton, Rufeng Dai, Danielle Owen et al. · The American Journal of Human Genetics · 2020 · 49 citations · Full text

Medicine, Genetics, Developmental Biology +1

Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT

Steve Seltzsam, Chunyan Wang, Bixia Zheng et al. · Genetics in Medicine · 2021 · 36 citations · Full text

Allelic Variant, Genetic Disorder, Exome Sequencing +7

Recessive <i>NOS1AP</i> variants impair actin remodeling and cause glomerulopathy in humans and mice

Amar J. Majmundar, Florian Buerger, Thomas Forbes et al. · Science Advances · 2021 · 31 citations · Full text

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