Literature DB >> 25335910

Exome sequencing as a differential diagnosis tool: resolving mild trichohepatoenteric syndrome.

D Oz-Levi1, B Weiss, A Lahad, S Greenberger, B Pode-Shakked, R Somech, T Olender, P Tatarsky, D Marek-Yagel, E Pras, Y Anikster, D Lancet.   

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Year:  2014        PMID： 25335910     DOI： 10.1111/cge.12494

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  9 in total

Review 1.  Tricho-hepato-enteric syndrome (THE-S): two cases and review of the literature.

Authors:  Jin Ho Chong; Saumya Shekhar Jamuar; Christina Ong; Koh Cheng Thoon; Ee Shien Tan; Angeline Lai; Mark Koh Jean Aan; Wilson Lek Wen Tan; Roger Foo; Ene Choo Tan; Yu-Lung Lau; Woei Kang Liew
Journal:  Eur J Pediatr       Date:  2015-05-15       Impact factor: 3.183

Review 2.  Management of syndromic diarrhea/tricho-hepato-enteric syndrome: A review of the literature.

Authors:  Alexandre Fabre; Patrice Bourgeois; Marie-Edith Coste; Céline Roman; Vincent Barlogis; Catherine Badens
Journal:  Intractable Rare Dis Res       Date:  2017-08

3.  Novel TTC37 mutations in a patient with Trichohepatoenteric syndrome: a case report and literature review.

Authors:  Jinzhi Gao; Xiaolin Hu; Wei Hu; Xuan Sun; Ling Chen
Journal:  Transl Pediatr       Date:  2022-06

Review 4.  Clinical application of next-generation sequencing for Mendelian diseases.

Authors:  Saumya Shekhar Jamuar; Ene-Choo Tan
Journal:  Hum Genomics       Date:  2015-06-16       Impact factor: 4.639

5.  VarElect: the phenotype-based variation prioritizer of the GeneCards Suite.

Authors:  Gil Stelzer; Inbar Plaschkes; Danit Oz-Levi; Anna Alkelai; Tsviya Olender; Shahar Zimmerman; Michal Twik; Frida Belinky; Simon Fishilevich; Ron Nudel; Yaron Guan-Golan; David Warshawsky; Dvir Dahary; Asher Kohn; Yaron Mazor; Sergey Kaplan; Tsippi Iny Stein; Hagit N Baris; Noa Rappaport; Marilyn Safran; Doron Lancet
Journal:  BMC Genomics       Date:  2016-06-23       Impact factor: 3.969

Review 6.  The RNA exosome and RNA exosome-linked disease.

Authors:  Derrick J Morton; Emily G Kuiper; Stephanie K Jones; Sara W Leung; Anita H Corbett; Milo B Fasken
Journal:  RNA       Date:  2017-11-01       Impact factor: 4.942

7.  Rational confederation of genes and diseases: NGS interpretation via GeneCards, MalaCards and VarElect.

Authors:  Noa Rappaport; Simon Fishilevich; Ron Nudel; Michal Twik; Frida Belinky; Inbar Plaschkes; Tsippi Iny Stein; Dana Cohen; Danit Oz-Levi; Marilyn Safran; Doron Lancet
Journal:  Biomed Eng Online       Date:  2017-08-18       Impact factor: 2.819

8.  Exome sequencing identifies a novel TTC37 mutation in the first reported case of Trichohepatoenteric syndrome (THE-S) in South Africa.

Authors:  Craig Kinnear; Brigitte Glanzmann; Eric Banda; Nikola Schlechter; Glenda Durrheim; Annika Neethling; Etienne Nel; Mardelle Schoeman; Glynis Johnson; Paul D van Helden; Eileen G Hoal; Monika Esser; Michael Urban; Marlo Möller
Journal:  BMC Med Genet       Date:  2017-03-14       Impact factor: 2.103

9.  Genome analysis and knowledge-driven variant interpretation with TGex.

Authors:  Dvir Dahary; Yaron Golan; Yaron Mazor; Ofer Zelig; Ruth Barshir; Michal Twik; Tsippi Iny Stein; Guy Rosner; Revital Kariv; Fei Chen; Qiang Zhang; Yiping Shen; Marilyn Safran; Doron Lancet; Simon Fishilevich
Journal:  BMC Med Genomics       Date:  2019-12-30       Impact factor: 3.063
  9 in total

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