Detalhe da pesquisa
1.
Compound heterozygous variants in RAB34 in a rare skeletal ciliopathy syndrome.
Clin Genet
; 105(1): 87-91, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37619988
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.
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.
Am J Hum Genet
; 103(4): 553-567, 2018 10 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30290151
4.
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses.
J Hum Genet
; 66(10): 995-1008, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-33875766
5.
Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non-oncologic disorders.
Am J Med Genet A
; 185(2): 517-527, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33398909
6.
Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias.
Hum Mutat
; 39(10): 1456-1467, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30080953
7.
A hypomorphic variant in the translocase of the outer mitochondrial membrane complex subunit TOMM7 causes short stature and developmental delay.
HGG Adv
; 4(1): 100148, 2023 01 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36299998
8.
The cost-effectiveness of whole genome sequencing in neurodevelopmental disorders.
Sci Rep
; 13(1): 6904, 2023 04 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37106068
9.
Polymicrogyria: epidemiology, imaging, and clinical aspects in a population-based cohort.
Brain Commun
; 5(4): fcad213, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37614989
10.
Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome.
Front Genet
; 14: 1174046, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37424725
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.
Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13.
NPJ Genom Med
; 8(1): 39, 2023 Nov 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37993442
13.
Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders.
J Bone Miner Res
; 38(5): 692-706, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36896612
14.
Case Report: Inversion of LMX1B - A Novel Cause of Nail-Patella Syndrome in a Swedish Family and a Longtime Follow-Up.
Front Endocrinol (Lausanne)
; 13: 862908, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35769074
15.
Case Report: Whole genome sequencing identifies CCDC88C as a novel JAK2 fusion partner in pediatric T-cell acute lymphoblastic leukemia.
Front Pediatr
; 10: 1082986, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36704135
16.
Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders.
NPJ Genom Med
; 7(1): 11, 2022 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35169139
17.
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
18.
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
19.
Skeletal ciliopathies: a pattern recognition approach.
Jpn J Radiol
; 38(3): 193-206, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-31965514
20.
Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome.
J Exp Med
; 217(3)2020 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31914175