Detalhe da pesquisa
1.
Human ABL1 deficiency syndrome (HADS) is a recognizable syndrome distinct from ABL1-related congenital heart defects and skeletal malformations syndrome.
Hum Genet
; 2024 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38743093
2.
Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.
Hum Genet
; 143(1): 71-84, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38117302
3.
Parallel in-depth analysis of repeat expansions in ataxia patients by long-read sequencing.
Brain
; 146(5): 1831-1843, 2023 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36227727
4.
Methylation of the 4q35 D4Z4 repeat defines disease status in facioscapulohumeral muscular dystrophy.
Brain
; 146(4): 1388-1402, 2023 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36100962
5.
Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency.
Genet Med
; 24(3): 631-644, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906488
6.
Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia.
Am J Hum Genet
; 99(2): 392-406, 2016 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27426733
7.
A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxa.
J Hum Genet
; 62(2): 325-328, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27604556
8.
Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.
Am J Med Genet A
; 173(7): 1739-1746, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28498505
9.
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
10.
ADAMTSL4-associated isolated ectopia lentis: Further patients, novel mutations and a detailed phenotype description.
Am J Med Genet A
; 167A(10): 2376-81, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25975359
11.
Optical Genome Mapping as a Potential Routine Clinical Diagnostic Method.
Genes (Basel)
; 15(3)2024 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38540401
12.
A Homozygous NDUFS6 Variant Associated with Neuropathy and Optic Atrophy.
J Neuromuscul Dis
; 11(2): 485-491, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38217609
13.
The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome?
Am J Med Genet A
; 161A(9): 2158-66, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23913520
14.
Generalized epilepsy in two patients with 5p duplication.
Neuropediatrics
; 44(4): 225-9, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23483447
15.
[Human genetic diagnostics in hereditary eye diseases : What does the ophthalmologist need to know]. / Humangenetische Diagnostik bei hereditären Augenerkrankungen : Was muss der Augenarzt wissen?
Ophthalmologie
; 120(6): 679-688, 2023 Jun.
Artigo
em Alemão
| MEDLINE | ID: mdl-37266672
16.
Diagnostic yield and clinical relevance of expanded germline genetic testing for nearly 7000 suspected HBOC patients.
Eur J Hum Genet
; 31(8): 925-930, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37188824
17.
Impact of cfDNA Reference Materials on Clinical Performance of Liquid Biopsy NGS Assays.
Cancers (Basel)
; 15(20)2023 Oct 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37894392
18.
Prospective evaluation of NGS-based sequencing in epilepsy patients: results of seven NASGE-associated diagnostic laboratories.
Front Neurol
; 14: 1276238, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38125836
19.
Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort.
J Neuromuscul Dis
; 10(5): 835-846, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37424474
20.
Germline truncating-mutations in BRCA1 and MSH6 in a patient with early onset endometrial cancer.
BMC Cancer
; 12: 531, 2012 Nov 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-23164213