Detalhe da pesquisa
1.
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations.
Am J Hum Genet;
108(11): 2195-2204, 2021 11 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34715011
2.
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
3.
Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot.
Circ Res;
124(4): 553-563, 2019 02 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30582441
4.
A homozygous missense variant in CHRM3 associated with familial urinary bladder disease.
Clin Genet;
96(6): 515-520, 2019 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31441039
5.
Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.
Am J Hum Genet;
95(6): 698-707, 2014 Dec 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25434003
6.
Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathy.
Am J Med Genet A;
173(4): 1051-1055, 2017 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28328138
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.
Exome sequence identifies RIPK4 as the Bartsocas-Papas syndrome locus.
Am J Hum Genet;
90(1): 69-75, 2012 Jan 13.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22197488
9.
Deletion of 19q13 reveals clinical overlap with Dubowitz syndrome.
J Hum Genet;
60(12): 781-5, 2015 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26377242
10.
Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2.
J Hum Genet;
60(4): 199-202, 2015 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25589041
11.
A deep intronic SMARCB1 variant associated with schwannomatosis.
Clin Genet;
97(2): 376-377, 2020 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31502250
12.
Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth.
Am J Hum Genet;
89(1): 148-53, 2011 Jul 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21737058
13.
Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome.
Am J Hum Genet;
88(5): 616-20, 2011 May 13.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21549343
14.
Protein kinase cδ deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferation.
Arthritis Rheum;
65(8): 2161-71, 2013 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23666743
15.
A paradigm shift in the delivery of services for diagnosis of inherited retinal disease.
J Med Genet;
49(5): 322-6, 2012 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22581970
16.
Multi-Maintenance Olaparib Therapy in Relapsed, Germline BRCA1/2-Mutant High-Grade Serous Ovarian Cancer (MOLTO): A Phase II Trial.
Clin Cancer Res;
29(14): 2602-2611, 2023 07 14.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36799931
17.
Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing.
Arch Dis Child;
102(11): 1019-1029, 2017 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28468868
18.
The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicity.
Orphanet J Rare Dis;
11(1): 125, 2016 09 14.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27628848
19.
Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.
Nat Genet;
48(10): 1185-92, 2016 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27571260
20.
Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis.
Neurology;
84(2): 141-7, 2015 Jan 13.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25480913