Detalhe da pesquisa
1.
Reticulon 2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity.
Brain
; 2024 Mar 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38527963
2.
Transcriptional Dysregulation Underlies Both Monogenic Arrhythmia Syndrome and Common Modifiers of Cardiac Repolarization.
Circulation
; 147(10): 824-840, 2023 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36524479
3.
Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities.
Genet Med
; 25(2): 100332, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36520152
4.
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia.
Ann Neurol
; 92(2): 304-321, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35471564
5.
Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay.
Am J Hum Genet
; 105(4): 844-853, 2019 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31585108
6.
HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H-TM protein.
Clin Genet
; 102(5): 444-450, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35908151
7.
Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24.
Hum Mol Genet
; 28(11): 1919-1929, 2019 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30715372
8.
Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3.
Genet Med
; 23(4): 787-792, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33288880
9.
Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants.
Brain
; 143(8): 2388-2397, 2020 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32705143
10.
Causal graphs for the analysis of genetic cohort data.
Physiol Genomics
; 52(9): 369-378, 2020 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32687429
11.
Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy.
Am J Hum Genet
; 100(3): 537-545, 2017 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28190459
12.
Testicular expression of TDRD1, TDRD5, TDRD9 and TDRD12 in azoospermia.
BMC Med Genet
; 21(1): 33, 2020 02 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-32059713
13.
Multiple roles of integrin-α3 at the neuromuscular junction.
J Cell Sci
; 130(10): 1772-1784, 2017 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28386022
14.
Fine-mapping, novel loci identification, and SNP association transferability in a genome-wide association study of QRS duration in African Americans.
Hum Mol Genet
; 25(19): 4350-4368, 2016 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27577874
15.
A Comparison of Heritability Estimates by Classical Twin Modeling and Based on Genome-Wide Genetic Relatedness for Cardiac Conduction Traits.
Twin Res Hum Genet
; 20(6): 489-498, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29039294
16.
Investigating the Causal Relationship of C-Reactive Protein with 32 Complex Somatic and Psychiatric Outcomes: A Large-Scale Cross-Consortium Mendelian Randomization Study.
PLoS Med
; 13(6): e1001976, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27327646
17.
Coagulation Gene Expression Profiling in Infants With Necrotizing Enterocolitis.
J Pediatr Gastroenterol Nutr
; 63(6): e169-e175, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27050058
18.
The genetics of pro-arrhythmic adverse drug reactions.
Br J Clin Pharmacol
; 77(4): 618-25, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23834499
19.
Genetic Insights from Consanguineous Cardiomyopathy Families.
Genes (Basel)
; 14(1)2023 01 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36672924
20.
Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy.
Eur J Hum Genet
; 31(1): 97-104, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36253531