Detalhe da pesquisa
1.
Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.
Am J Hum Genet
; 110(3): 499-515, 2023 03 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36724785
2.
Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics.
Brain
; 147(5): 1751-1767, 2024 May 03.
Artigo
Inglês
| MEDLINE | ID: mdl-38128568
3.
Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder.
Genet Med
; 26(3): 101034, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-38054405
4.
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.
Mov Disord
; 39(1): 141-151, 2024 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-37964426
5.
Ophthalmic manifestations of Czech dysplasia.
Am J Med Genet A
; 194(4): e63480, 2024 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-37982325
6.
Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder.
J Med Genet
; 60(8): 791-796, 2023 08.
Artigo
Inglês
| MEDLINE | ID: mdl-36581449
7.
De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.
Am J Hum Genet
; 106(6): 830-845, 2020 06 04.
Artigo
Inglês
| MEDLINE | ID: mdl-32442410
8.
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.
Genet Med
; 25(1): 135-142, 2023 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36399134
9.
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia.
Genet Med
; 25(1): 76-89, 2023 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36331550
10.
Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome.
J Med Genet
; 59(11): 1058-1068, 2022 11.
Artigo
Inglês
| MEDLINE | ID: mdl-35232796
11.
Whole-body MRI for cancer surveillance in ataxia-telangiectasia: A qualitative study of the perspectives of people affected by A-T and their families.
Health Expect
; 26(3): 1358-1367, 2023 06.
Artigo
Inglês
| MEDLINE | ID: mdl-36929011
12.
Homozygous Loss-of-Function Mutations in AP1B1, Encoding Beta-1 Subunit of Adaptor-Related Protein Complex 1, Cause MEDNIK-like Syndrome.
Am J Hum Genet
; 105(5): 1016-1022, 2019 11 07.
Artigo
Inglês
| MEDLINE | ID: mdl-31630791
13.
A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study.
Lancet Oncol
; 22(11): 1618-1631, 2021 11.
Artigo
Inglês
| MEDLINE | ID: mdl-34678156
14.
Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy.
Genet Med
; 23(2): 408-414, 2021 02.
Artigo
Inglês
| MEDLINE | ID: mdl-33033404
15.
Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2.
Genet Med
; 23(7): 1202-1210, 2021 07.
Artigo
Inglês
| MEDLINE | ID: mdl-33674768
16.
De Novo Mutations in YWHAG Cause Early-Onset Epilepsy.
Am J Hum Genet
; 101(2): 300-310, 2017 Aug 03.
Artigo
Inglês
| MEDLINE | ID: mdl-28777935
17.
Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome.
Clin Genet
; 98(2): 172-178, 2020 08.
Artigo
Inglês
| MEDLINE | ID: mdl-32415735
18.
Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia.
Ann Neurol
; 85(2): 170-180, 2019 02.
Artigo
Inglês
| MEDLINE | ID: mdl-30549301
19.
PEHO syndrome: the endpoint of different genetic epilepsies.
J Med Genet
; 55(12): 803-813, 2018 12.
Artigo
Inglês
| MEDLINE | ID: mdl-30287594
20.
Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability.
J Med Genet
; 55(1): 28-38, 2018 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29021403