Detalhe da pesquisa
1.
SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.
Genet Med
; 24(6): 1261-1273, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35341651
2.
A practical guide to genetic testing in endocrinology.
Clin Endocrinol (Oxf)
; 97(4): 388-399, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34528717
3.
Investigating the role of somatic sequencing platforms for phaeochromocytoma and paraganglioma in a large UK cohort.
Clin Endocrinol (Oxf)
; 97(4): 448-459, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34870338
4.
SDHC phaeochromocytoma and paraganglioma: A UK-wide case series.
Clin Endocrinol (Oxf)
; 96(4): 499-512, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34558728
5.
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.
Am J Med Genet A
; 188(12): 3492-3504, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36135330
6.
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.
Am J Hum Genet
; 103(1): 3-18, 2018 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29909963
7.
Clinical and radiological characterization of novel FIG4-related combined system disease with neuropathy.
Clin Genet
; 98(2): 147-154, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32385905
8.
A review of the tumour spectrum of germline succinate dehydrogenase gene mutations: Beyond phaeochromocytoma and paraganglioma.
Clin Endocrinol (Oxf)
; 93(5): 528-538, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32686200
9.
Genetic testing for hereditary hyperparathyroidism and familial hypocalciuric hypercalcaemia in a large UK cohort.
Clin Endocrinol (Oxf)
; 93(4): 409-418, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32430905
10.
Haploinsufficiency of CUX1 Causes Nonsyndromic Global Developmental Delay With Possible Catch-up Development.
Ann Neurol
; 84(2): 200-207, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30014507
11.
Clinical Practice Guidance: Surveillance for phaeochromocytoma and paraganglioma in paediatric succinate dehydrogenase gene mutation carriers.
Clin Endocrinol (Oxf)
; 90(4): 499-505, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30589099
12.
Identification of novel pathogenic variants and features in patients with pseudohypoparathyroidism and acrodysostosis, subtypes of the newly classified inactivating PTH/PTHrP signaling disorders.
Am J Med Genet A
; 179(7): 1330-1337, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31041856
13.
Clinical Diagnosis of Classical Cornelia de Lange Syndrome Made From Postmortem Examination of Second Trimester Fetus With Novel NIPBL Pathogenic Variant.
Pediatr Dev Pathol
; 22(5): 475-479, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-30890023
14.
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
em Inglês
| MEDLINE | ID: mdl-29021403
15.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-29386252
16.
Bi-allelic FRA10AC1 variants in a multisystem human syndrome.
Brain
; 145(10): e86-e89, 2022 10 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35871492
17.
STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.
J Med Genet
; 54(7): 479-488, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28119487
18.
Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected child.
Neurogenetics
; 18(1): 49-55, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28063088
19.
De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability.
Am J Hum Genet
; 94(4): 618-24, 2014 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24680889
20.
Male child with somatic mosaic Osteopathia Striata with Cranial Sclerosis caused by a novel pathogenic AMER1 frameshift mutation.
Am J Med Genet A
; 173(7): 1931-1935, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28497491