Detalhe da pesquisa
1.
The expanding clinical and genetic spectrum of DYNC1H1-related disorders.
Brain
; 2024 Jun 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38848546
2.
De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila.
Hum Mol Genet
; 31(19): 3231-3244, 2022 09 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35234901
3.
Newly identified disorder of copper metabolism caused by variants in CTR1, a high-affinity copper transporter.
Hum Mol Genet
; 31(24): 4121-4130, 2022 12 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35913762
4.
Maternal cell contamination in postnatal umbilical cord blood samples implies a low risk for genetic misdiagnoses.
Prenat Diagn
; 2024 May 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38782597
5.
Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature.
Genet Med
; 25(1): 49-62, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36322151
6.
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.
Brain
; 145(1): 208-223, 2022 03 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34382076
7.
An E280K Missense Variant in KCND3/Kv4.3-Case Report and Functional Characterization.
Int J Mol Sci
; 24(13)2023 Jun 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-37446101
8.
A Novel Variant in TPM3 Causing Muscle Weakness and Concomitant Hypercontractile Phenotype.
Int J Mol Sci
; 24(22)2023 Nov 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38003336
9.
Clinical exome sequencing-Mistakes and caveats.
Hum Mutat
; 43(8): 1041-1055, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35191116
10.
KBTBD13 is a novel cardiomyopathy gene.
Hum Mutat
; 43(12): 1860-1865, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36335629
11.
Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness.
Hum Mol Genet
; 29(13): 2218-2239, 2020 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32504085
12.
Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature.
Am J Hum Genet
; 105(5): 907-920, 2019 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31607425
13.
The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4.
Genet Med
; 24(11): 2308-2317, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36056923
14.
DTYMK is essential for genome integrity and neuronal survival.
Acta Neuropathol
; 143(2): 245-262, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34918187
15.
MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia.
Mov Disord
; 37(10): 2139-2146, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35876425
16.
Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders.
Am J Med Genet A
; 188(9): 2750-2759, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35543142
17.
Referral Indications for Malignant Hyperthermia Susceptibility Diagnostics in Patients without Adverse Anesthetic Events in the Era of Next-generation Sequencing.
Anesthesiology
; 136(6): 940-953, 2022 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35285867
18.
Functional analysis of RYR1 variants in patients with confirmed susceptibility to malignant hyperthermia.
Br J Anaesth
; 129(6): 879-888, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36208971
19.
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
Am J Hum Genet
; 103(5): 666-678, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30343943
20.
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.
Am J Hum Genet
; 102(5): 995-1007, 2018 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29656858