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Literature DB >> 33011761

Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy.

Ahmed K Saad^1,2, Dana Marafi^1,3, Tadahiro Mitani¹, Angad Jolly^1,4, Haowei Du¹, Hasnaa M Elbendary⁵, Shalini N Jhangiani⁶, Zeynep C Akdemir¹, Richard A Gibbs^1,6, Jill V Hunter^7,8, Claudia M B C Carvalho¹, Davut Pehlivan^1,9,10, Jennifer E Posey¹, Maha S Zaki⁵, James R Lupski^1,6,9,11.

Abstract

Entities: Disease Gene

Mesh：

Year: 2020 PMID： 33011761 PMCID： PMC7586085 DOI： 10.1093/brain/awaa256

Source DB: PubMed Journal: Brain ISSN： 0006-8950 Impact factor: 13.501

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28 in total

1. Protein structure prediction and analysis using the Robetta server.

Authors: David E Kim; Dylan Chivian; David Baker
Journal: Nucleic Acids Res Date: 2004-07-01 Impact factor: 16.971

2. Complex gene rearrangements caused by serial replication slippage.

Authors: Jian-Min Chen; Nadia Chuzhanova; Peter D Stenson; Claude Férec; David N Cooper
Journal: Hum Mutat Date: 2005-08 Impact factor: 4.878

3. The complete genome of an individual by massively parallel DNA sequencing.

Authors: David A Wheeler; Maithreyan Srinivasan; Michael Egholm; Yufeng Shen; Lei Chen; Amy McGuire; Wen He; Yi-Ju Chen; Vinod Makhijani; G Thomas Roth; Xavier Gomes; Karrie Tartaro; Faheem Niazi; Cynthia L Turcotte; Gerard P Irzyk; James R Lupski; Craig Chinault; Xing-zhi Song; Yue Liu; Ye Yuan; Lynne Nazareth; Xiang Qin; Donna M Muzny; Marcel Margulies; George M Weinstock; Richard A Gibbs; Jonathan M Rothberg
Journal: Nature Date: 2008-04-17 Impact factor: 49.962

4. A familial case of nail patella syndrome with a heterozygous in-frame indel mutation in the LIM domain of LMX1B.

Authors: Miho Mukai; Harumi Fujita; Noriko Umegaki-Arao; Takashi Sasaki; Fumiyo Yasuda-Sekiguchi; Tsuyoshi Isojima; Sachiko Kitanaka; Masayuki Amagai; Akiharu Kubo
Journal: J Dermatol Sci Date: 2017-12-19 Impact factor: 4.563

5. Recurrent bi-allelic splicing variant c.454+3A>G in TRAPPC4 is associated with progressive encephalopathy and muscle involvement.

Authors: Parneet Kaur; Rajagopal Kadavigere; Katta Mohan Girisha; Anju Shukla
Journal: Brain Date: 2020-03-03 Impact factor: 13.501

Review 6. TRAPPopathies: An emerging set of disorders linked to variations in the genes encoding transport protein particle (TRAPP)-associated proteins.

Authors: Michael Sacher; Nassim Shahrzad; Hiba Kamel; Miroslav P Milev
Journal: Traffic Date: 2018-09-24 Impact factor: 6.215

7. Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.

Authors: Nicole J Van Bergen; Yiran Guo; Noraldin Al-Deri; Zhanna Lipatova; Daniela Stanga; Sarah Zhao; Rakhilya Murtazina; Valeriya Gyurkovska; Davut Pehlivan; Tadahiro Mitani; Alper Gezdirici; Jayne Antony; Felicity Collins; Mary J H Willis; Zeynep H Coban Akdemir; Pengfei Liu; Jaya Punetha; Jill V Hunter; Shalini N Jhangiani; Jawid M Fatih; Jill A Rosenfeld; Jennifer E Posey; Richard A Gibbs; Ender Karaca; Sean Massey; Thisara G Ranasinghe; Patrick Sleiman; Chris Troedson; James R Lupski; Michael Sacher; Nava Segev; Hakon Hakonarson; John Christodoulou
Journal: Brain Date: 2020-01-01 Impact factor: 13.501

8. The origin, evolution, and functional impact of short insertion-deletion variants identified in 179 human genomes.

Authors: Stephen B Montgomery; David L Goode; Erika Kvikstad; Cornelis A Albers; Zhengdong D Zhang; Xinmeng Jasmine Mu; Guruprasad Ananda; Bryan Howie; Konrad J Karczewski; Kevin S Smith; Vanessa Anaya; Rhea Richardson; Joe Davis; Daniel G MacArthur; Arend Sidow; Laurent Duret; Mark Gerstein; Kateryna D Makova; Jonathan Marchini; Gil McVean; Gerton Lunter
Journal: Genome Res Date: 2013-03-11 Impact factor: 9.043

9. Characteristics of de novo structural changes in the human genome.

Authors: Wigard P Kloosterman; Laurent C Francioli; Fereydoun Hormozdiari; Tobias Marschall; Jayne Y Hehir-Kwa; Abdel Abdellaoui; Eric-Wubbo Lameijer; Matthijs H Moed; Vyacheslav Koval; Ivo Renkens; Markus J van Roosmalen; Pascal Arp; Lennart C Karssen; Bradley P Coe; Robert E Handsaker; Eka D Suchiman; Edwin Cuppen; Djie Tjwan Thung; Mitch McVey; Michael C Wendl; André Uitterlinden; Cornelia M van Duijn; Morris A Swertz; Cisca Wijmenga; GertJan B van Ommen; P Eline Slagboom; Dorret I Boomsma; Alexander Schönhuth; Evan E Eichler; Paul I W de Bakker; Kai Ye; Victor Guryev
Journal: Genome Res Date: 2015-04-16 Impact factor: 9.043

10. Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report.

Authors: Zsolt Bánfai; Kinga Hadzsiev; Endre Pál; Katalin Komlósi; Márton Melegh; László Balikó; Béla Melegh
Journal: BMC Med Genet Date: 2017-09-19 Impact factor: 2.103

2 in total

1. High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.

Authors: Tadahiro Mitani; Sedat Isikay; Alper Gezdirici; Elif Yilmaz Gulec; Jaya Punetha; Jawid M Fatih; Isabella Herman; Gulsen Akay; Haowei Du; Daniel G Calame; Akif Ayaz; Tulay Tos; Gozde Yesil; Hatip Aydin; Bilgen Geckinli; Nursel Elcioglu; Sukru Candan; Ozlem Sezer; Haktan Bagis Erdem; Davut Gul; Emine Demiral; Muhsin Elmas; Osman Yesilbas; Betul Kilic; Serdal Gungor; Ahmet C Ceylan; Sevcan Bozdogan; Ozge Ozalp; Salih Cicek; Huseyin Aslan; Sinem Yalcintepe; Vehap Topcu; Yavuz Bayram; Christopher M Grochowski; Angad Jolly; Moez Dawood; Ruizhi Duan; Shalini N Jhangiani; Harsha Doddapaneni; Jianhong Hu; Donna M Muzny; Dana Marafi; Zeynep Coban Akdemir; Ender Karaca; Claudia M B Carvalho; Richard A Gibbs; Jennifer E Posey; James R Lupski; Davut Pehlivan
Journal: Am J Hum Genet Date: 2021-09-28 Impact factor: 11.025

Review 2. Centers for Mendelian Genomics: A decade of facilitating gene discovery.

Authors: Samantha M Baxter; Jennifer E Posey; Nicole J Lake; Nara Sobreira; Jessica X Chong; Steven Buyske; Elizabeth E Blue; Lisa H Chadwick; Zeynep H Coban-Akdemir; Kimberly F Doheny; Colleen P Davis; Monkol Lek; Christopher Wellington; Shalini N Jhangiani; Mark Gerstein; Richard A Gibbs; Richard P Lifton; Daniel G MacArthur; Tara C Matise; James R Lupski; David Valle; Michael J Bamshad; Ada Hamosh; Shrikant Mane; Deborah A Nickerson; Heidi L Rehm; Anne O'Donnell-Luria
Journal: Genet Med Date: 2022-02-09 Impact factor: 8.864

2 in total