Detalhe da pesquisa
1.
Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and mice.
PLoS Genet
; 18(3): e1010114, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35298461
2.
Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects.
Am J Hum Genet
; 107(6): 1170-1177, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33232677
3.
YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse.
Genet Med
; 25(7): 100835, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-36999555
4.
Trappc9 deficiency causes parent-of-origin dependent microcephaly and obesity.
PLoS Genet
; 16(9): e1008916, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32877400
5.
A Positively Selected MAGEE2 LoF Allele Is Associated with Sexual Dimorphism in Human Brain Size and Shows Similar Phenotypes in Magee2 Null Mice.
Mol Biol Evol
; 38(12): 5655-5663, 2021 12 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34464968
6.
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.
PLoS Biol
; 17(4): e3000194, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30973865
7.
Characterization of Two Mouse Chd7 Heterozygous Loss-of-Function Models Shows Dysgenesis of the Corpus Callosum and Previously Unreported Features of CHARGE Syndrome.
Int J Mol Sci
; 23(19)2022 Sep 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-36232804
8.
Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth.
Hum Genet
; 140(6): 885-896, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33417013
9.
Myosin 10 is involved in murine pigmentation.
Exp Dermatol
; 28(4): 391-394, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29509981
10.
Alkaline ceramidase 1 is essential for mammalian skin homeostasis and regulating whole-body energy expenditure.
J Pathol
; 239(3): 374-83, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27126290
11.
Identification of genes important for cutaneous function revealed by a large scale reverse genetic screen in the mouse.
PLoS Genet
; 10(10): e1004705, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25340873
12.
PDZD8 Disruption Causes Cognitive Impairment in Humans, Mice, and Fruit Flies.
Biol Psychiatry
; 92(4): 323-334, 2022 08 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35227461
13.
Accelerating functional gene discovery in osteoarthritis.
Nat Commun
; 12(1): 467, 2021 01 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-33473114
14.
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.
Nat Commun
; 10(1): 3465, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31371714
15.
Publisher Correction: Accelerating functional gene discovery in osteoarthritis.
Nat Commun
; 12(1): 3302, 2021 May 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-34050183
16.
Novel skin phenotypes revealed by a genome-wide mouse reverse genetic screen.
Nat Commun
; 5: 3540, 2014 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-24721909
17.
Mcph1-deficient mice reveal a role for MCPH1 in otitis media.
PLoS One
; 8(3): e58156, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23516444
18.
Development and characterization of a novel animal model of intermittent MDMA ("Ecstasy") exposure during adolescence.
Ann N Y Acad Sci
; 1139: 151-63, 2008 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-18991859