Detalhe da pesquisa
1.
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.
Am J Hum Genet
; 111(3): 487-508, 2024 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38325380
2.
Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans.
Am J Hum Genet
; 110(7): 1068-1085, 2023 07 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37352860
3.
Whole-exome sequencing reveals causative genetic variants for several overgrowth syndromes in molecularly negative Beckwith-Wiedemann spectrum.
J Med Genet
; 2024 Jan 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38228391
4.
Human phenotype caused by biallelic KDM4B frameshift variant.
Clin Genet
; 105(1): 72-76, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37526414
5.
Craniosynostosis in molecularly diagnosed Kabuki syndrome: Prevalence and clinical implications.
Am J Med Genet A
; 194(2): 268-278, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37815018
6.
A novel NODAL variant in a young embolic stroke patient with visceral heterotaxy.
BMC Neurol
; 24(1): 119, 2024 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38605286
7.
The complexity of EGFR exon 19 deletion and L858R mutant cells as assessed by proteomics, transcriptomics, and metabolomics.
Exp Cell Res
; 424(1): 113503, 2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36731710
8.
Identifying novel disease genes and revealing the pathomechanism of monogenic diseases.
Pediatr Int
; 66(1): e15760, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38641939
9.
De novo ARF3 variants cause neurodevelopmental disorder with brain abnormality.
Hum Mol Genet
; 31(1): 69-81, 2021 12 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-34346499
10.
Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities.
Am J Hum Genet
; 106(1): 13-25, 2020 01 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31839203
11.
De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy.
Am J Hum Genet
; 106(4): 549-558, 2020 04 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32169168
12.
Three KINSSHIP syndrome patients with mosaic and germline AFF3 variants.
Clin Genet
; 103(5): 590-595, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36576140
13.
rs2013278 in the multiple immunological-trait susceptibility locus CD28 regulates the production of non-functional splicing isoforms.
Hum Genomics
; 16(1): 46, 2022 10 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-36271469
14.
Breakthrough candidemia with hematological disease: Results from a single-center retrospective study in Japan, 2009-2020.
Med Mycol
; 61(6)2023 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37312399
15.
Repeat conformation heterogeneity in cerebellar ataxia, neuropathy, vestibular areflexia syndrome.
Brain
; 145(3): 1139-1150, 2022 04 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35355059
16.
Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability.
J Med Genet
; 59(5): 511-516, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34183358
17.
Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14).
J Med Genet
; 59(9): 865-877, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34815299
18.
Monogenic causes of pigmentary mosaicism.
Hum Genet
; 141(11): 1771-1784, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-35503477
19.
A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies.
Am J Hum Genet
; 104(4): 596-610, 2019 04 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30879640
20.
Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment.
Am J Hum Genet
; 105(5): 987-995, 2019 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31587868