Detalhe da pesquisa
1.
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.
Am J Hum Genet
; 110(2): 215-227, 2023 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36586412
2.
Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.
Am J Hum Genet
; 110(3): 499-515, 2023 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36724785
3.
GABBR1 monoallelic de novo variants linked to neurodevelopmental delay and epilepsy.
Am J Hum Genet
; 109(10): 1885-1893, 2022 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36103875
4.
Short arms of human acrocentric chromosomes and the completion of the human genome sequence.
Genome Res
; 32(4): 599-607, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35361624
5.
Carrier screening for recessive disorders.
Nat Rev Genet
; 20(9): 549-561, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31142809
6.
CoverageMaster: comprehensive CNV detection and visualization from NGS short reads for genetic medicine applications.
Brief Bioinform
; 23(2)2022 03 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35224620
7.
Dominant monoallelic variant in the PAK2 gene causes Knobloch syndrome type 2.
Hum Mol Genet
; 31(1): 1-9, 2021 12 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-33693784
8.
De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy.
Am J Hum Genet
; 107(3): 564-574, 2020 09 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32822602
9.
Biallelic variants in NSUN6 cause an autosomal recessive neurodevelopmental disorder.
Genet Med
; 25(9): 100900, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37226891
10.
Down syndrome and the complexity of genome dosage imbalance.
Nat Rev Genet
; 18(3): 147-163, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28029161
11.
Biallelic variants in PSMB1 encoding the proteasome subunit ß6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature.
Hum Mol Genet
; 29(7): 1132-1143, 2020 05 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32129449
12.
Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency.
Hum Mol Genet
; 29(4): 618-623, 2020 03 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-31903486
13.
Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features.
Am J Hum Genet
; 104(6): 1073-1087, 2019 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31079899
14.
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
15.
Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder.
Genet Med
; 24(7): 1583-1591, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35499524
16.
Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndrome.
Genet Med
; 24(11): 2262-2273, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36112137
17.
Kirrel3-Mediated Synapse Formation Is Attenuated by Disease-Associated Missense Variants.
J Neurosci
; 40(28): 5376-5388, 2020 07 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32503885
18.
De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy.
Hum Mutat
; 42(1): 66-76, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33131106
19.
Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature.
Hum Mol Genet
; 28(6): 972-979, 2019 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30481285
20.
Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts.
Am J Hum Genet
; 103(4): 568-578, 2018 10 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30290152