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1.
Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders.
Am J Hum Genet
; 106(3): 338-355, 2020 03 05.
Article
in English
| MEDLINE | ID: mdl-32109419
2.
SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect.
Brain
; 143(8): 2380-2387, 2020 08 01.
Article
in English
| MEDLINE | ID: mdl-32658972
3.
Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.
Genet Med
; 22(11): 1920, 2020 Nov.
Article
in English
| MEDLINE | ID: mdl-32814847
4.
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.
Article
in English
| MEDLINE | ID: mdl-31479583
5.
KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.
Genet Med
; 21(4): 850-860, 2019 04.
Article
in English
| MEDLINE | ID: mdl-30245513
6.
Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.
J Med Genet
; 55(6): 384-394, 2018 06.
Article
in English
| MEDLINE | ID: mdl-29386252
7.
Features of multiple self-healing squamous epithelioma and Loeys-Dietz syndrome in a patient with a novel TGFBR1 variant.
Am J Med Genet A
; 176(12): 2892-2895, 2018 12.
Article
in English
| MEDLINE | ID: mdl-30513140
8.
Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly.
J Med Genet
; 53(11): 735-742, 2016 Nov.
Article
in English
| MEDLINE | ID: mdl-27418539
9.
Why do women not return family history forms when referred to breast cancer genetics services? A mixed-method study.
Health Expect
; 18(5): 1735-43, 2015 Oct.
Article
in English
| MEDLINE | ID: mdl-24386893
10.
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.
Nat Genet
; 38(3): 337-42, 2006 Mar.
Article
in English
| MEDLINE | ID: mdl-16444271
11.
Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis.
Nat Genet
; 38(4): 441-6, 2006 Apr.
Article
in English
| MEDLINE | ID: mdl-16550169
12.
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.
Eur J Hum Genet
; 2024 Feb 15.
Article
in English
| MEDLINE | ID: mdl-38355961
13.
Lifestyle changes in women at genetic risk of breast cancer: an observational study.
Int J Behav Med
; 20(4): 514-21, 2013 Dec.
Article
in English
| MEDLINE | ID: mdl-22976351
14.
Faecal haemoglobin concentration in adenoma, before and after polypectomy, approaches the ideal tumour marker.
Ann Clin Biochem
; 59(4): 272-276, 2022 07.
Article
in English
| MEDLINE | ID: mdl-35235491
15.
Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity.
Ophthalmic Genet
; 43(6): 809-816, 2022 12.
Article
in English
| MEDLINE | ID: mdl-36695497
16.
Mutations in the iodotyrosine deiodinase gene and hypothyroidism.
N Engl J Med
; 358(17): 1811-8, 2008 Apr 24.
Article
in English
| MEDLINE | ID: mdl-18434651
17.
Cantú syndrome: report of nine new cases and expansion of the clinical phenotype.
Am J Med Genet A
; 155A(3): 508-18, 2011 Mar.
Article
in English
| MEDLINE | ID: mdl-21344641
18.
Multiple Self-Healing Squamous Epithelioma (MSSE): A Digenic Trait Associated with Loss of Function Mutations in TGFBR1 and Variants at a Second Linked Locus on the Long Arm of Chromosome 9.
Genes (Basel)
; 11(12)2020 11 26.
Article
in English
| MEDLINE | ID: mdl-33256177
19.
Non-Invasive Prenatal Diagnosis of Retinoblastoma Inheritance by Combined Targeted Sequencing Strategies.
J Clin Med
; 9(11)2020 Oct 30.
Article
in English
| MEDLINE | ID: mdl-33143217
20.
Faecal haemoglobin can define risk of colorectal neoplasia at surveillance colonoscopy in patients at increased risk of colorectal cancer.
United European Gastroenterol J
; 8(5): 559-566, 2020 06.
Article
in English
| MEDLINE | ID: mdl-32213041