Detalhe da pesquisa
1.
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
2.
Overexpression of Grainyhead-like 3 causes spina bifida and interacts genetically with mutant alleles of Grhl2 and Vangl2 in mice.
Hum Mol Genet
; 27(24): 4218-4230, 2018 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30189017
3.
Targeted copy number screening highlights an intragenic deletion of WDR63 as the likely cause of human occipital encephalocele and abnormal CNS development in zebrafish.
Hum Mutat
; 39(4): 495-505, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29285825
4.
Novel Features and Abnormal Pattern of Cerebral Glucose Metabolism in Spinocerebellar Ataxia 19.
Cerebellum
; 17(4): 465-476, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29527639
5.
Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation.
Hum Mutat
; 38(2): 180-192, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27862604
6.
Knowledge and Attitudes Regarding Non-Invasive Prenatal Testing (NIPT) and Preferences for Risk Information among High School Students in Sweden.
J Genet Couns
; 26(3): 447-454, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-27480089
7.
Different mutations in PDE4D associated with developmental disorders with mirror phenotypes.
J Med Genet
; 51(1): 45-54, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24203977
8.
Lamin b1 polymorphism influences morphology of the nuclear envelope, cell cycle progression, and risk of neural tube defects in mice.
PLoS Genet
; 8(11): e1003059, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23166514
9.
Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans.
Hum Mol Genet
; 21(7): 1496-503, 2012 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22171071
10.
Molecular and cytogenetic analysis in stillbirth: results from 481 consecutive cases.
Fetal Diagn Ther
; 36(4): 326-32, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25059832
11.
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
12.
Partial tetrasomy 14 associated with multiple malformations.
Am J Med Genet A
; 161A(6): 1284-90, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23613323
13.
Folate metabolite profiling of different cell types and embryos suggests variation in folate one-carbon metabolism, including developmental changes in human embryonic brain.
Mol Cell Biochem
; 378(1-2): 229-36, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23483428
14.
Is LMNB1 a susceptibility gene for neural tube defects in humans?
Birth Defects Res A Clin Mol Teratol
; 97(6): 398-402, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23733478
15.
Copy number variation characteristics in subpopulations of patients with autism spectrum disorders.
Am J Med Genet B Neuropsychiatr Genet
; 156(2): 115-24, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21302340
16.
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
17.
Alpha-cardiac actin mutations produce atrial septal defects.
Hum Mol Genet
; 17(2): 256-65, 2008 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-17947298
18.
Chimerism resulting from parthenogenetic activation and dispermic fertilization.
Am J Med Genet A
; 152A(9): 2277-86, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20803645
19.
Pathogenic copy number variants are detected in a subset of patients with gastrointestinal malformations.
Mol Genet Genomic Med
; 8(2): e1084, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31837127
20.
Identification of putative pathogenic single nucleotide variants (SNVs) in genes associated with heart disease in 290 cases of stillbirth.
PLoS One
; 14(1): e0210017, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30615648