Detalhe da pesquisa
1.
NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.
Am J Hum Genet
; 107(5): 963-976, 2020 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33157009
2.
SLC39A5 dysfunction impairs extracellular matrix synthesis in high myopia pathogenesis.
J Cell Mol Med
; 25(17): 8432-8441, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34302427
3.
Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy.
Hum Genet
; 140(4): 579-592, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33048237
4.
Phenotype-to-genotype approach reveals head-circumference-associated genes in an autism spectrum disorder cohort.
Clin Genet
; 97(2): 338-346, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31674007
5.
Genotype and phenotype correlations for SHANK3 de novo mutations in neurodevelopmental disorders.
Am J Med Genet A
; 176(12): 2668-2676, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30537371
6.
Loss-of-function of KMT5B leads to neurodevelopmental disorder and impairs neuronal development and neurogenesis.
J Genet Genomics
; 49(9): 881-890, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35331928
7.
Mutation pattern and genotype-phenotype correlations of SETD2 in neurodevelopmental disorders.
Eur J Med Genet
; 64(5): 104200, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33766796
8.
Excess of RALGAPB de novo variants in neurodevelopmental disorders.
Eur J Med Genet
; 63(11): 104041, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32853829
9.
Genotype and Phenotype Correlations for TBL1XR1 in Neurodevelopmental Disorders.
J Mol Neurosci
; 70(12): 2085-2092, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-32524419
10.
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Nat Commun
; 11(1): 4932, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33004838
11.
Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Nat Commun
; 11(1): 5398, 2020 Oct 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-33087701
12.
Pathogenic missense mutation pattern of forkhead box genes in neurodevelopmental disorders.
Mol Genet Genomic Med
; 7(7): e00789, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31199603
13.
POGZ de novo missense variants in neuropsychiatric disorders.
Mol Genet Genomic Med
; 7(9): e900, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31347273
14.
Rare inherited missense variants of POGZ associate with autism risk and disrupt neuronal development.
J Genet Genomics
; 46(5): 247-257, 2019 05 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-31196716
15.
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.
Nat Commun
; 10(1): 4679, 2019 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31616000
16.
Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission.
Sci Adv
; 5(9): eaax2166, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31579823
17.
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
Nat Commun
; 10(1): 3094, 2019 07 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31300657
18.
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
Mol Autism
; 9: 64, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30564305
19.
De novo genic mutations among a Chinese autism spectrum disorder cohort.
Nat Commun
; 7: 13316, 2016 11 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27824329