Detalhe da pesquisa
1.
Single substitution in H3.3G34 alters DNMT3A recruitment to cause progressive neurodegeneration.
Cell
; 186(6): 1162-1178.e20, 2023 03 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36931244
2.
Role of CAMK2D in neurodevelopment and associated conditions.
Am J Hum Genet
; 111(2): 364-382, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38272033
3.
A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome.
Am J Hum Genet
; 108(4): 749-756, 2021 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33743206
4.
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia.
Am J Hum Genet
; 108(12): 2368-2384, 2021 12 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34800363
5.
Histone 3.3-related chromatinopathy: missense variants throughout H3-3A and H3-3B cause a range of functional consequences across species.
Hum Genet
; 2023 Mar 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36867246
6.
Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities.
Am J Hum Genet
; 106(5): 623-631, 2020 05 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32275884
7.
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.
Am J Hum Genet
; 107(1): 164-172, 2020 07 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32553196
8.
Inherited bone marrow failure with macrothrombocytopenia due to germline tubulin beta class I (TUBB) variant.
Br J Haematol
; 200(2): 222-228, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36207145
9.
Monoallelic loss-of-function BMP2 variants result in BMP2-related skeletal dysplasia spectrum.
Genet Med
; 25(8): 100863, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37125634
10.
Genomic sequencing in a cohort of individuals with fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome.
Am J Med Genet A
; 191(4): 977-982, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36610046
11.
Heterozygous variants in TBCK cause a mild neurologic syndrome in humans and mice.
Am J Med Genet A
; 191(10): 2508-2517, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37353954
12.
A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature.
Am J Med Genet A
; 191(5): 1227-1239, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36751037
13.
Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome.
Hum Mol Genet
; 29(11): 1900-1921, 2020 07 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-32196547
14.
Analysis of histone variant constraint and tissue expression suggests five potential novel human disease genes: H2AFY2, H2AFZ, H2AFY, H2AFV, H1F0.
Hum Genet
; 141(8): 1409-1421, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35072799
15.
Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment.
Am J Hum Genet
; 105(5): 987-995, 2019 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31587868
16.
Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans.
Genet Med
; 24(2): 319-331, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906466
17.
Expanding the phenotypic spectrum of ARCN1-related syndrome.
Genet Med
; 24(6): 1227-1237, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35300924
18.
Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency.
Genet Med
; 24(3): 631-644, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906488
19.
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.
Genet Med
; 24(11): 2351-2366, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36083290
20.
Contribution of Mendelian Disorders in a Population-Based Pediatric Neurodegeneration Cohort.
J Pediatr
; 248: 89-93, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35577121