Detalhe da pesquisa
1.
Nuclear chromosome locations dictate segregation error frequencies.
Nature
; 607(7919): 604-609, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35831506
2.
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Am J Hum Genet
; 110(6): 963-978, 2023 06 01.
Artigo
Inglês
| MEDLINE | ID: mdl-37196654
3.
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.
Am J Hum Genet
; 109(2): 361-372, 2022 02 03.
Artigo
Inglês
| MEDLINE | ID: mdl-35051358
4.
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.
Brain
; 146(2): 534-548, 2023 02 13.
Artigo
Inglês
| MEDLINE | ID: mdl-35979925
5.
Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome.
J Med Genet
; 60(4): 359-367, 2023 04.
Artigo
Inglês
| MEDLINE | ID: mdl-36113987
6.
Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature.
Genet Med
; 25(1): 49-62, 2023 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36322151
7.
De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorder.
Hum Mutat
; 43(12): 1844-1851, 2022 12.
Artigo
Inglês
| MEDLINE | ID: mdl-35904126
8.
Variants in CAPZA2, a member of an F-actin capping complex, cause intellectual disability and developmental delay.
Hum Mol Genet
; 29(9): 1537-1546, 2020 06 03.
Artigo
Inglês
| MEDLINE | ID: mdl-32338762
9.
A gene-to-patient approach uplifts novel disease gene discovery and identifies 18 putative novel disease genes.
Genet Med
; 24(8): 1697-1707, 2022 08.
Artigo
Inglês
| MEDLINE | ID: mdl-35532742
10.
Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder.
Genet Med
; 24(8): 1774-1780, 2022 08.
Artigo
Inglês
| MEDLINE | ID: mdl-35567594
11.
Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy.
Ann Neurol
; 90(2): 274-284, 2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-34185323
12.
Genetics-first approach improves diagnostics of ESKD patients <50 years old.
Nephrol Dial Transplant
; 37(2): 349-357, 2022 01 25.
Artigo
Inglês
| MEDLINE | ID: mdl-33306124
13.
Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.
Genet Med
; 23(5): 881-887, 2021 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33473207
14.
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
Genet Med
; 23(4): 653-660, 2021 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33299146
15.
Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants.
Clin Genet
; 99(2): 259-268, 2021 02.
Artigo
Inglês
| MEDLINE | ID: mdl-33131045
16.
Sequential cancer mutations in cultured human intestinal stem cells.
Nature
; 521(7550): 43-7, 2015 May 07.
Artigo
Inglês
| MEDLINE | ID: mdl-25924068
17.
HNRNPH1-related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome.
Clin Genet
; 98(1): 91-98, 2020 07.
Artigo
Inglês
| MEDLINE | ID: mdl-32335897
18.
Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
Genet Med
; 23(4): 796, 2021 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-33686260
19.
A ubiquitin-based effector-to-inhibitor switch coordinates early brain, craniofacial, and skin development.
Nat Commun
; 14(1): 4499, 2023 07 26.
Artigo
Inglês
| MEDLINE | ID: mdl-37495603
20.
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.
Sci Transl Med
; 15(698): eabo3189, 2023 05 31.
Artigo
Inglês
| MEDLINE | ID: mdl-37256937