Detalhe da pesquisa
1.
Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions.
Am J Hum Genet
; 110(6): 998-1007, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37207645
2.
Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland.
N Engl J Med
; 388(17): 1559-1571, 2023 Apr 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37043637
3.
BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome.
J Med Genet
; 61(5): 490-501, 2024 Apr 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38296633
4.
Ethical preparedness in genomic medicine: how NHS clinical scientists navigate ethical issues.
J Med Ethics
; 2024 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38320848
5.
Getting rights right: implementing 'Martha's Rule'.
J Med Ethics
; 2024 Jan 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38184371
6.
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
7.
Ethical issues in Nipah virus control and research: addressing a neglected disease.
J Med Ethics
; 2023 Dec 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38071589
8.
Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data.
Am J Hum Genet
; 105(5): 933-946, 2019 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31607427
9.
Further delineation of phenotypic spectrum of SCN2A-related disorder.
Am J Med Genet A
; 188(3): 867-877, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34894057
10.
Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.
Am J Hum Genet
; 102(1): 175-187, 2018 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29276005
11.
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.
Am J Hum Genet
; 102(5): 985-994, 2018 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29656860
12.
Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants.
Clin Genet
; 99(2): 259-268, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33131045
13.
Heterozygous variants in SPTBN1 cause intellectual disability and autism.
Am J Med Genet A
; 185(7): 2037-2045, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33847457
14.
ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum.
Hum Mutat
; 41(5): 1042-1050, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32097528
15.
Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.
Am J Hum Genet
; 101(5): 856-865, 2017 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29100095
16.
Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation.
Am J Hum Genet
; 100(1): 91-104, 2017 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27939640
17.
ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder.
Am J Hum Genet
; 101(6): 1021-1033, 2017 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29220674
18.
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.
Genet Med
; 22(2): 389-397, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31388190
19.
Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.
Genet Med
; 22(3): 669, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-31844176
20.
Clinical findings of 21 previously unreported probands with HNRNPU-related syndrome and comprehensive literature review.
Am J Med Genet A
; 182(7): 1637-1654, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32319732