Literature DB >> 30193138

IRF2BPL Is Associated with Neurological Phenotypes.

Paul C Marcogliese, Vandana Shashi, Rebecca C Spillmann, Nicholas Stong, Jill A Rosenfeld, Mary Kay Koenig, Julián A Martínez-Agosto, Matthew Herzog, Agnes H Chen, Patricia I Dickson, Henry J Lin, Moin U Vera, Noriko Salamon, John M Graham, Damara Ortiz, Elena Infante, Wouter Steyaert, Bart Dermaut, Bruce Poppe, Hyung-Lok Chung, Zhongyuan Zuo, Pei-Tseng Lee, Oguz Kanca, Fan Xia, Yaping Yang, Edward C Smith, Joan Jasien, Sujay Kansagra, Gail Spiridigliozzi, Mays El-Dairi, Robert Lark, Kacie Riley, Dwight D Koeberl, Katie Golden-Grant, Shinya Yamamoto, Michael F Wangler, Ghayda Mirzaa, Dimitri Hemelsoet, Brendan Lee, Stanley F Nelson, David B Goldstein, Hugo J Bellen, Loren D M Pena.   

Abstract

Entities:  

Year:  2018        PMID： 30193138      PMCID： PMC6128320          DOI： 10.1016/j.ajhg.2018.08.010

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


× No keyword cloud information.
  4 in total

1.  Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature.

Authors:  Muhammad Ansar; Hyung-Lok Chung; Ali Al-Otaibi; Mohammad Nael Elagabani; Thomas A Ravenscroft; Sohail A Paracha; Ralf Scholz; Tayseer Abdel Magid; Muhammad T Sarwar; Sayyed Fahim Shah; Azhar Ali Qaisar; Periklis Makrythanasis; Paul C Marcogliese; Erik-Jan Kamsteeg; Emilie Falconnet; Emmanuelle Ranza; Federico A Santoni; Hesham Aldhalaan; Ali Al-Asmari; Eissa Ali Faqeih; Jawad Ahmed; Hans-Christian Kornau; Hugo J Bellen; Stylianos E Antonarakis
Journal:  Am J Hum Genet       Date:  2019-10-10       Impact factor: 11.025

2.  Differential expression of MDGA1 in major depressive disorder.

Authors:  Yijie Jamie Li; Elizabeth Kresock; Rayus Kuplicki; Jonathan Savitz; Brett A McKinney
Journal:  Brain Behav Immun Health       Date:  2022-10-10

3.  The benefit of diagnostic whole genome sequencing in schizophrenia and other psychotic disorders.

Authors:  Anna Alkelai; Lior Greenbaum; Anna R Docherty; Andrey A Shabalin; Gundula Povysil; Ayan Malakar; Daniel Hughes; Shannon L Delaney; Emma P Peabody; James McNamara; Sahar Gelfman; Evan H Baugh; Anthony W Zoghbi; Matthew B Harms; Hann-Shyan Hwang; Anat Grossman-Jonish; Vimla Aggarwal; Erin L Heinzen; Vaidehi Jobanputra; Ann E Pulver; Bernard Lerer; David B Goldstein
Journal:  Mol Psychiatry       Date:  2021-11-19       Impact factor: 13.437

4.  Rare disease patient matchmaking: development and outcomes of an internet case-finding strategy in the Undiagnosed Diseases Network.

Authors:  Kimberly LeBlanc; Emily G Kelley; Anna Nagy; Jorick Bater; Tala Berro; Molly A McGuinness; Courtney Studwell; Matthew Might
Journal:  Orphanet J Rare Dis       Date:  2021-05-10       Impact factor: 4.123
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.