Detalhe da pesquisa
1.
Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function.
Hum Mol Genet
; 2024 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38676400
2.
Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability.
J Med Genet
; 2024 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38458752
3.
Guidelines for the diagnosis and management of adult aplastic anaemia: A British Society for Haematology Guideline.
Br J Haematol
; 204(3): 784-804, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38247114
4.
Redefining WILD syndrome: a primary lymphatic dysplasia with congenital multisegmental lymphoedema, cutaneous lymphovascular malformation, CD4 lymphopaenia and warts.
J Med Genet
; 60(1): 84-90, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34916230
5.
Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B.
J Med Genet
; 60(2): 183-192, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35393335
6.
Short amplicon reverse transcription-polymerase chain reaction detects aberrant splicing in genes with low expression in blood missed by ribonucleic acid sequencing analysis for clinical diagnosis.
Hum Mutat
; 43(7): 963-970, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35476365
7.
The seventh international RASopathies symposium: Pathways to a cure-expanding knowledge, enhancing research, and therapeutic discovery.
Am J Med Genet A
; 188(6): 1915-1927, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35266292
8.
SHORT Syndrome: Systematic Appraisal of the Medical and Dental Phenotype.
Cleft Palate Craniofac J
; 59(7): 873-881, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34212753
9.
Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes.
Genet Med
; 23(7): 1315-1324, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33864021
10.
Update and audit of the St George's classification algorithm of primary lymphatic anomalies: a clinical and molecular approach to diagnosis.
J Med Genet
; 57(10): 653-659, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32409509
11.
The role of automated breast ultrasound in the assessment of the local extent of breast cancer.
Breast J
; 27(2): 113-119, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33296949
12.
Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP.
Hum Mutat
; 41(11): 1906-1917, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32939943
13.
Detection of structural mosaicism from targeted and whole-genome sequencing data.
Genome Res
; 27(10): 1704-1714, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28855261
14.
Expanding the phenotypic spectrum consequent upon de novo WDR37 missense variants.
Clin Genet
; 98(2): 191-197, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32530092
15.
Abnormal Rab11-Rab8-vesicles cluster in enterocytes of patients with microvillus inclusion disease.
Traffic
; 18(7): 453-464, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28407399
16.
Null variants and deletions in BRWD3 cause an X-linked syndrome of mild-moderate intellectual disability, macrocephaly, and obesity: A series of 17 patients.
Am J Med Genet C Semin Med Genet
; 181(4): 638-643, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31714006
17.
The phenotype of Sotos syndrome in adulthood: A review of 44 individuals.
Am J Med Genet C Semin Med Genet
; 181(4): 502-508, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31479583
18.
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.
J Med Genet
; 55(2): 104-113, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29097605
19.
Human phenotypes caused by PIEZO1 mutations; one gene, two overlapping phenotypes?
J Physiol
; 596(6): 985-992, 2018 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29331020
20.
Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management.
Genet Med
; 20(11): 1430-1437, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29595812