Detalhe da pesquisa
1.
MED12 mutations in uterine leiomyomas: prediction of volume reduction by gonadotropin-releasing hormone agonists.
Am J Obstet Gynecol
; 228(2): 207.e1-207.e9, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36150519
2.
SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.
Genet Med
; 24(6): 1261-1273, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35341651
3.
Efficient detection of copy-number variations using exome data: Batch- and sex-based analyses.
Hum Mutat
; 42(1): 50-65, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33131168
4.
Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy.
J Hum Genet
; 66(4): 401-407, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33040083
5.
Pathogenic variants in the survival of motor neurons complex gene GEMIN5 cause cerebellar atrophy.
Clin Genet
; 100(6): 722-730, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34569062
6.
Comparison of mitochondrial DNA variants detection using short- and long-read sequencing.
J Hum Genet
; 64(11): 1107-1116, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-31409854
7.
Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome.
J Hum Genet
; 64(10): 967-978, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31337854
8.
Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.
J Hum Genet
; 64(12): 1173-1186, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31530938
9.
A novel homozygous DPH1 mutation causes intellectual disability and unique craniofacial features.
J Hum Genet
; 63(4): 487-491, 2018 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-29410513
10.
A homozygous NOP14 variant is likely to cause recurrent pregnancy loss.
J Hum Genet
; 63(4): 425-430, 2018 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-29440706
11.
A Novel SETBP1 Gene Disruption by a De Novo Balanced Translocation in a Patient with Speech Impairment, Intellectual, and Behavioral Disorder.
J Pediatr Genet
; 11(2): 135-138, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35769969
12.
Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants.
Genome Med
; 14(1): 40, 2022 04 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-35468861
13.
Novel variants in aromatic L-amino acid decarboxylase deficiency: Case report of sisters with mild phenotype.
Brain Dev
; 43(10): 1023-1028, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34481663
14.
A patient with a 6q22.1 deletion and a phenotype of non-progressive early-onset generalized epilepsy with tremor.
Epilepsy Behav Rep
; 15: 100405, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33437959
15.
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
Nat Commun
; 10(1): 2506, 2019 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31175295
16.
Predicting the intrauterine fetal death of fetuses with cystic hygroma in early pregnancy.
Congenit Anom (Kyoto)
; 58(5): 167-170, 2018 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-29322592