Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases

Author:

Vivante Asaf,Ityel Hadas,Pode-Shakked Ben,Chen Jing,Shril Shirlee,van der Ven Amelie T.,Mann Nina,Schmidt Johanna Magdalena,Segel Reeval,Aran Adi,Zeharia Avraham,Staretz-Chacham Orna,Bar-Yosef Omer,Raas-Rothschild Annick,Landau Yuval E.,Lifton Richard P.,Anikster Yair,Hildebrandt FriedhelmORCID

Funder

Foundation for the National Institutes of Health

March of Dimes

Yale Center for Mendelian Genomics

German Research Foundation

Publisher

Springer Science and Business Media LLC

Subject

Nephrology,Pediatrics, Perinatology, and Child Health

Reference35 articles.

1. Scalco RS, Gardiner AR, Pitceathly RD, Zanoteli E, Becker J, Holton JL, Houlden H, Jungbluth H, Quinlivan R (2015) Rhabdomyolysis: a genetic perspective. Orphanet J Rare Dis 10:51

2. Vivante A, Kleppa MJ, Schulz J, Kohl S, Sharma A, Chen J, Shril S, Hwang DY, Weiss AC, Kaminski MM, Shukrun R, Kemper MJ, Lehnhardt A, Beetz R, Sanna-Cherchi S, Verbitsky M, Gharavi AG, Stuart HM, Feather SA, Goodship JA, Goodship TH, Woolf AS, Westra SJ, Doody DP, Bauer SB, Lee RS, Adam RM, Lu W, Reutter HM, Kehinde EO, Mancini EJ, Lifton RP, Tasic V, Lienkamp SS, Juppner H, Kispert A, Hildebrandt F (2015) Mutations in Tbx18 cause dominant urinary tract malformations via transcriptional dysregulation of ureter development. Am J Hum Genet 97:291–301

3. Vivante A, Hwang DY, Kohl S, Chen J, Shril S, Schulz J, Van Der Ven A, Daouk G, Soliman NA, Kumar AS, Senguttuvan P, Kehinde EO, Tasic V, Hildebrandt F (2017) Exome sequencing discerns syndromes in patients from consanguineous families with congenital anomalies of the kidneys and urinary tract. J Am Soc Nephrol 28:69–75

4. Li H, Handsaker B, Wysoker A, Fennell T, Ruan J, Homer N, Marth G, Abecasis G, Durbin R; 1000 Genome Project Data Processing Subgroup (2009) The sequence alignment/map format and Samtools. Bioinformatics 25:2078–2079

5. Van Der Auwera GA, Carneiro MO, Hartl C, Poplin R, Del Angel G, Levy-Moonshine A, Jordan T, Shakir K, Roazen D, Thibault J, Banks E, Garimella KV, Altshuler D, Gabriel S, Depristo MA (2013) From FASTQ data to high confidence variant calls: the genome analysis toolkit best practices pipeline. Curr Protoc Bioinformatics 43:11.10.11–11.10.33

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