Neurodevelopmental phenotypes in individuals with pathogenic variants in
intellectual disability
severe global developmental delay
severe microcephaly
Journal
Cold Spring Harbor molecular case studies
ISSN: 2373-2873
Titre abrégé: Cold Spring Harb Mol Case Stud
Pays: United States
ID NLM: 101660017
Informations de publication
Date de publication:
08 2021
08 2021
Historique:
received:
02
03
2021
accepted:
10
05
2021
pubmed:
23
5
2021
medline:
5
1
2022
entrez:
22
5
2021
Statut:
epublish
Résumé
De novo pathogenic variants in
Identifiants
pubmed: 34021018
pii: mcs.a006092
doi: 10.1101/mcs.a006092
pmc: PMC8327885
pii:
doi:
Substances chimiques
CHAMP1 protein, human
0
Chromosomal Proteins, Non-Histone
0
Phosphoproteins
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : NCATS NIH HHS
ID : UL1 TR001863
Pays : United States
Informations de copyright
© 2021 Garrity et al.; Published by Cold Spring Harbor Laboratory Press.
Références
Mol Genet Genomic Med. 2017 Jul 12;5(5):585-591
pubmed: 28944241
Cancer Sci. 2014 May;105(5):545-52
pubmed: 24597627
PLoS Biol. 2009 Feb 3;7(2):e1000027
pubmed: 19192947
Hum Mutat. 2016 Apr;37(4):354-8
pubmed: 26751395
Nat Genet. 2011 Jun;43(6):527-9
pubmed: 21552266
Oncol Res. 2016;24(5):315-325
pubmed: 27712588
Biol Blood Marrow Transplant. 2015 Sep;21(9):1565-1575
pubmed: 25953732
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
Dev Cell. 2001 Aug;1(2):227-37
pubmed: 11702782
Neurogenetics. 2016 Jan;17(1):71-8
pubmed: 26626498
Zhongguo Dang Dai Er Ke Za Zhi. 2020 Oct;22(10):1131-1134
pubmed: 33059813
Hum Mutat. 2016 Apr;37(4):359-63
pubmed: 26820108
Neuropediatrics. 2017 Jun;48(3):135-142
pubmed: 28399591
Genome Biol. 2016 Nov 28;17(1):241
pubmed: 27894357
Genet Med. 2019 Nov;21(11):2413-2421
pubmed: 31182824
Cancer Genet. 2013 Jan-Feb;206(1-2):42-6
pubmed: 23357231
Hum Mol Genet. 2009 Apr 15;18(R1):R84-93
pubmed: 19297405
Cancer Cell. 2003 Dec;4(6):483-97
pubmed: 14706340
Am J Hum Genet. 2015 Sep 3;97(3):493-500
pubmed: 26340335
Cancer Res. 2010 Jun 15;70(12):4891-900
pubmed: 20516114
Mol Cell Oncol. 2018 Aug 6;5(4):e1494949
pubmed: 30250931
Hum Genet. 2014 Aug;133(8):1023-39
pubmed: 24748105
Mol Oncol. 2018 Mar;12(3):391-405
pubmed: 29360267
Am J Hum Genet. 2000 May;66(5):1705-9
pubmed: 10762554
J Pediatr Psychol. 1985 Jun;10(2):215-25
pubmed: 4020603
Hum Genet. 2019 Oct;138(10):1145-1153
pubmed: 31321490
Br J Haematol. 2014 Mar;164(6):822-33
pubmed: 24372512
Cold Spring Harb Mol Case Stud. 2015 Oct;1(1):a000455
pubmed: 27148570
Nature. 2015 Mar 12;519(7542):223-8
pubmed: 25533962
EMBO J. 2011 Jan 5;30(1):130-44
pubmed: 21063390
Front Cell Neurosci. 2018 Jun 14;12:165
pubmed: 29962938
Int J Hematol. 2015 Dec;102(6):662-9
pubmed: 26449786
Nature. 2013 Aug 22;500(7463):415-21
pubmed: 23945592
Cold Spring Harb Mol Case Stud. 2016 Jan;2(1):a000661
pubmed: 27148580