Detalhe da pesquisa
1.
Developmental and temporal characteristics of clonal sperm mosaicism.
Cell
; 184(18): 4772-4783.e15, 2021 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34388390
2.
Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder.
Cell
; 167(6): 1481-1494.e18, 2016 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27912058
3.
Cell-type-resolved mosaicism reveals clonal dynamics of the human forebrain.
Nature
; 629(8011): 384-392, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38600385
4.
CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration.
Cell
; 157(3): 651-63, 2014 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-24766810
5.
Heteromeric clusters of ubiquitinated ER-shaping proteins drive ER-phagy.
Nature
; 618(7964): 402-410, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37225994
6.
AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder.
Cell
; 154(3): 505-17, 2013 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23911318
7.
Somatic mosaicism reveals clonal distributions of neocortical development.
Nature
; 604(7907): 689-696, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35444276
8.
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.
Am J Hum Genet
; 111(5): 863-876, 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38565148
9.
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.
Cell
; 150(3): 533-48, 2012 Aug 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-22863007
10.
Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome.
Am J Hum Genet
; 110(12): 2112-2119, 2023 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37963460
11.
Modeling human disease in humans: the ciliopathies.
Cell
; 147(1): 70-9, 2011 Sep 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-21962508
12.
TMEM161B modulates radial glial scaffolding in neocortical development.
Proc Natl Acad Sci U S A
; 120(4): e2209983120, 2023 01 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-36669109
13.
Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly.
Am J Hum Genet
; 109(10): 1909-1922, 2022 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36044892
14.
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications.
Am J Hum Genet
; 109(8): 1421-1435, 2022 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35830857
15.
SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.
Cell
; 142(2): 203-17, 2010 Jul 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-20637498
16.
Sperm mosaicism: implications for genomic diversity and disease.
Trends Genet
; 37(10): 890-902, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34158173
17.
ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies.
Am J Hum Genet
; 108(10): 2017-2023, 2021 10 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34587489
18.
UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism.
Am J Hum Genet
; 108(1): 134-147, 2021 01 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33340455
19.
Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder.
Am J Hum Genet
; 108(6): 1069-1082, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34022130
20.
A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion.
N Engl J Med
; 385(14): 1292-1301, 2021 09 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-34587386