Detalhe da pesquisa
1.
Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit ß-type 10 in six infants with SCID-Omenn syndrome.
Am J Hum Genet
; 111(4): 791-804, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38503300
2.
De novo mutation hotspots in homologous protein domains identify function-altering mutations in neurodevelopmental disorders.
Am J Hum Genet
; 110(1): 92-104, 2023 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36563679
3.
De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders.
Am J Hum Genet
; 106(3): 405-411, 2020 03 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32109420
4.
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.
Am J Hum Genet
; 107(1): 164-172, 2020 07 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32553196
5.
A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene.
J Med Genet
; 59(10): 993-1001, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34952832
6.
De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder.
Am J Hum Genet
; 105(2): 403-412, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31303265
7.
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.
Genet Med
; 24(6): 1283-1296, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35346573
8.
Bifunctional protein PCBD2 operates as a co-factor for hepatocyte nuclear factor 1ß and modulates gene transcription.
FASEB J
; 35(4): e21366, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33749890
9.
Antisense oligonucleotide-based treatment of retinitis pigmentosa caused by USH2A exon 13 mutations.
Mol Ther
; 29(8): 2441-2455, 2021 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33895329
10.
Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate.
Am J Hum Genet
; 102(6): 1143-1157, 2018 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29805042
11.
Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency.
Genet Med
; 23(9): 1705-1714, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34140661
12.
Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder.
Genet Med
; 23(7): 1246-1254, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33824500
13.
Molecular Inversion Probe-Based Sequencing of USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases.
Int J Mol Sci
; 22(12)2021 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34203967
14.
Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes.
Am J Hum Genet
; 101(3): 478-484, 2017 Sep 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28867141
15.
Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype.
Am J Hum Genet
; 101(5): 824-832, 2017 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29106825
16.
Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus.
Genet Med
; 22(6): 1061-1068, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32099069
17.
De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy.
Genet Med
; 22(4): 797-802, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31776469
18.
Mutations in CYB561 Causing a Novel Orthostatic Hypotension Syndrome.
Circ Res
; 122(6): 846-854, 2018 03 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-29343526
19.
Novel defect in phosphatidylinositol 4-kinase type 2-alpha (PI4K2A) at the membrane-enzyme interface is associated with metabolic cutis laxa.
J Inherit Metab Dis
; 43(6): 1382-1391, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32418222
20.
Investigating the active site of human trimethyllysine hydroxylase.
Biochem J
; 476(7): 1109-1119, 2019 04 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30898847