Detalhe da pesquisa
1.
Multi-omics analysis reveals multiple mechanisms causing Prader-Willi like syndrome in a family with a X;15 translocation.
Hum Mutat
; 43(11): 1567-1575, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35842787
2.
Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability.
Genet Med
; 24(11): 2296-2307, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36066546
3.
De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.
Am J Hum Genet
; 98(2): 373-81, 2016 Feb 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26833328
4.
Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.
Am J Hum Genet
; 96(3): 507-13, 2015 Mar 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-25728777
5.
Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability.
Clin Genet
; 94(6): 528-537, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30221345
6.
Meiotic segregation analyses of reciprocal translocations in spermatozoa and embryos: no support for predictive value regarding PGD outcome.
Reprod Biomed Online
; 34(6): 645-652, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28336162
7.
A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders.
Prenat Diagn
; 37(11): 1146-1154, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28921562
8.
Small mosaic deletion encompassing the snoRNAs and SNURF-SNRPN results in an atypical Prader-Willi syndrome phenotype.
Am J Med Genet A
; 164A(2): 425-31, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24311433
9.
Novel findings in a Swedish primary familial brain calcification cohort.
J Neurol Sci
; 460: 123020, 2024 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38642488
10.
Genetic screening for Huntington disease phenocopies in Sweden: A tertiary center case series focused on short tandem repeat (STR) disorders.
J Neurol Sci
; 451: 120707, 2023 08 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37379724
11.
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Front Neurol
; 14: 1170005, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37273706
12.
Inherited mosaicism for the supernumerary marker chromosome in cat eye syndrome: inter- and intra-individual variation and correlation to the phenotype.
Am J Med Genet A
; 158A(5): 1111-7, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22495764
13.
Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants.
Mol Genet Genomic Med
; 10(4): e1880, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35118825
14.
Pathogenenic variant in the COL2A1 gene is associated with Spondyloepiphyseal dysplasia type Stanescu.
Am J Med Genet A
; 170A(1): 266-9, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26420734
15.
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Genome Med
; 13(1): 40, 2021 03 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-33726816
16.
Molecular and clinical characterization of patients with overlapping 10p deletions.
Am J Med Genet A
; 152A(5): 1233-43, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20425828
17.
Biallelic mutations in WRAP53 result in dysfunctional telomeres, Cajal bodies and DNA repair, thereby causing Hoyeraal-Hreidarsson syndrome.
Cell Death Dis
; 11(4): 238, 2020 04 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-32303682
18.
Compound heterozygous HAX1 mutations in a Swedish patient with severe congenital neutropenia and no neurodevelopmental abnormalities.
Pediatr Blood Cancer
; 53(6): 1143-6, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19499579
19.
The cerebellar phenotype of Charcot-Marie-Tooth neuropathy type 4C.
Cerebellum Ataxias
; 6: 9, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31346473
20.
From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability.
Genome Med
; 11(1): 68, 2019 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31694722