Detalhe da pesquisa
1.
Human TBK1 deficiency leads to autoinflammation driven by TNF-induced cell death.
Cell
; 184(17): 4447-4463.e20, 2021 08 19.
Artigo
Inglês
| MEDLINE | ID: mdl-34363755
2.
Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders.
Am J Hum Genet
; 110(2): 251-272, 2023 02 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36669495
3.
Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features.
Hum Mol Genet
; 32(20): 2981-2995, 2023 Oct 04.
Artigo
Inglês
| MEDLINE | ID: mdl-37531237
4.
De novo variants in ATP2B1 lead to neurodevelopmental delay.
Am J Hum Genet
; 109(5): 944-952, 2022 05 05.
Artigo
Inglês
| MEDLINE | ID: mdl-35358416
5.
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
6.
Impaired Reorganization of Centrosome Structure Underlies Human Infantile Dilated Cardiomyopathy.
Circulation
; 147(17): 1291-1303, 2023 04 25.
Artigo
Inglês
| MEDLINE | ID: mdl-36970983
7.
Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities.
Am J Hum Genet
; 108(5): 951-961, 2021 05 06.
Artigo
Inglês
| MEDLINE | ID: mdl-33894126
8.
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.
Am J Hum Genet
; 108(6): 1138-1150, 2021 06 03.
Artigo
Inglês
| MEDLINE | ID: mdl-33909992
9.
SMPD4 regulates mitotic nuclear envelope dynamics and its loss causes microcephaly and diabetes.
Brain
; 146(8): 3528-3541, 2023 08 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36732302
10.
SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission.
Brain
; 146(11): 4547-4561, 2023 11 02.
Artigo
Inglês
| MEDLINE | ID: mdl-37459438
11.
Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B.
J Med Genet
; 60(2): 183-192, 2023 02.
Artigo
Inglês
| MEDLINE | ID: mdl-35393335
12.
CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopment.
Hum Genet
; 142(3): 379-397, 2023 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-36538041
13.
De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues.
Hum Genet
; 142(7): 949-964, 2023 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-37198333
14.
De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias.
Genet Med
; 25(10): 100927, 2023 10.
Artigo
Inglês
| MEDLINE | ID: mdl-37422718
15.
XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia.
Nature
; 541(7635): 87-91, 2017 01 05.
Artigo
Inglês
| MEDLINE | ID: mdl-28002403
16.
De novo TRPV4 Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy.
J Med Genet
; 59(3): 305-312, 2022 03.
Artigo
Inglês
| MEDLINE | ID: mdl-33685999
17.
Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails.
Am J Hum Genet
; 104(3): 520-529, 2019 03 07.
Artigo
Inglês
| MEDLINE | ID: mdl-30824121
18.
Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay.
Am J Hum Genet
; 105(4): 844-853, 2019 10 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31585108
19.
TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities.
Am J Hum Genet
; 105(6): 1126-1147, 2019 12 05.
Artigo
Inglês
| MEDLINE | ID: mdl-31735293
20.
A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement.
Clin Genet
; 101(1): 32-47, 2022 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34240408