Detalhe da pesquisa
1.
Systematic reanalysis of copy number losses of uncertain clinical significance.
J Med Genet
; 2024 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38604752
2.
Anticipatory banking of samples enables diagnosis of adenylosuccinase deficiency following molecular autopsy in an infant with vacuolating leukoencephalopathy.
Am J Med Genet A
; 191(1): 234-237, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36271826
3.
Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders.
J Med Genet
; 59(4): 393-398, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33879512
4.
Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability.
Am J Hum Genet
; 98(2): 363-72, 2016 Feb 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26833329
5.
A maternally inherited frameshift CDKL5 variant in a male with global developmental delay and late-onset generalized epilepsy.
Am J Med Genet A
; 179(3): 507-511, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30624022
6.
An evaluation of the challenges to developing tumor BRCA1 and BRCA2 testing methodologies for clinical practice.
Hum Mutat
; 39(3): 394-405, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29215764
7.
The diagnostic utility of clinical exome sequencing in 60 patients with hearing loss disorders: A single-institution experience.
Clin Otolaryngol
; 46(6): 1257-1262, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34171171
8.
ERBB4 exonic deletions on chromosome 2q34 in patients with intellectual disability or epilepsy.
Eur J Hum Genet
; 29(9): 1377-1383, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33603162
9.
Presynaptic congenital myasthenic syndrome due to three novel mutations in SLC5A7 encoding the sodium-dependant high-affinity choline transporter.
Neuromuscul Disord
; 31(1): 21-28, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33250374
10.
Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2.
Sci Immunol
; 4(42)2019 12 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-31836668
11.
High quality clinical grade human embryonic stem cell lines derived from fresh discarded embryos.
Stem Cell Res Ther
; 8(1): 128, 2017 06 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28583200
12.
Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patients.
Eur J Med Genet
; 58(9): 455-65, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26206081