Detalhe da pesquisa
1.
The constitutional gain-of-function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome.
Clin Genet
; 103(2): 226-230, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36189577
2.
Genetic and genomic studies of pathogenic EXOSC2 mutations in the newly described disease SHRF implicate the autophagy pathway in disease pathogenesis.
Hum Mol Genet
; 29(4): 541-553, 2020 03 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-31628467
3.
Polygenic risk scores indicate extreme ages at onset of breast cancer in female BRCA1/2 pathogenic variant carriers.
BMC Cancer
; 22(1): 706, 2022 Jun 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35761208
4.
New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy.
Hum Mol Genet
; 26(15): 2923-2932, 2017 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28472301
5.
Targeted capture-based NGS is superior to multiplex PCR-based NGS for hereditary BRCA1 and BRCA2 gene analysis in FFPE tumor samples.
BMC Cancer
; 19(1): 396, 2019 Apr 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-31029168
6.
The contribution of homology arms to nuclease-assisted genome engineering.
Nucleic Acids Res
; 45(13): 8105-8115, 2017 Jul 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-28582546
7.
Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer.
PLoS Genet
; 12(8): e1006248, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27504877
8.
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.
Am J Hum Genet
; 97(2): 343-52, 2015 Aug 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26235985
9.
Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.
Genet Med
; 20(11): 1354-1364, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29671837
10.
Functional monosomy of 6q27-qter and functional disomy of Xpter-p22.11 due to X;6 translocation with an atypical X-inactivation pattern.
Am J Med Genet A
; 173(5): 1334-1341, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28371302
11.
Skewed X-inactivation in a family with DLG3-associated X-linked intellectual disability.
Am J Med Genet A
; 173(9): 2545-2550, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28777483
12.
Novel PRPS1 gain-of-function mutation in a patient with congenital hyperuricemia and facial anomalies.
Am J Med Genet A
; 173(10): 2736-2742, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28742244
13.
Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt.
J Med Genet
; 53(6): 419-25, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26843489
14.
Spectrum of genetic variants of BRCA1 and BRCA2 in a German single center study.
Arch Gynecol Obstet
; 295(5): 1227-1238, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28324225
15.
Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of "PIK3CA-Related Overgrowth Spectrum".
Hum Mutat
; 37(3): 242-5, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26593112
16.
Ready to clone: CNV detection and breakpoint fine-mapping in breast and ovarian cancer susceptibility genes by high-resolution array CGH.
Breast Cancer Res Treat
; 159(3): 585-90, 2016 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-27581129
17.
Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.
Am J Med Genet A
; 170(10): 2644-51, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27240540
18.
Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities?
Am J Med Genet A
; 170A(1): 94-102, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26358559
19.
An unusual case of Cowden syndrome associated with ganglioneuromatous polyposis.
Hered Cancer Clin Pract
; 14: 11, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27168869
20.
HBOC multi-gene panel testing: comparison of two sequencing centers.
Breast Cancer Res Treat
; 152(1): 129-136, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26022348