Concepedia
Statistics
Publications
7
Citations
311
H-Index
Active since
2019
Affiliations
Boston Children's Hospital(Current)
Harvard University
Yale University
Brigham and Women's Hospital
Dubai Hospital
Isabel Ottlewski is an author at Boston Children's Hospital specializing in genetics, medicine, and molecular genetics.
Publications per year
2019–2022
Value of renal gene panel diagnostics in adults waiting for kidney transplantation due to undetermined end-stage renal disease
Isabel Ottlewski, Johannes Münch, Timo Wagner et al. · Kidney International · 2019 · 97 citations · Full text
Medicine, Genetics, Nephrology +14
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 · 61 citations · Full text
Medicine, Genetics, Molecular Genetics +10
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 · 51 citations · Full text
Medicine, Molecular Medicine, Urology +6
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 · 37 citations · Full text
Life Sciences, Genetics, Molecular Genetics +10
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 · 32 citations · Full text
Medicine, Genetics, Molecular Genetics +14
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