Detalhe da pesquisa
1.
Disruptive CHD8 mutations define a subtype of autism early in development.
Cell
; 158(2): 263-276, 2014 Jul 17.
Artigo
Inglês
| MEDLINE | ID: mdl-24998929
2.
Personalized genetic counseling for Stargardt disease: Offspring risk estimates based on variant severity.
Am J Hum Genet
; 109(3): 498-507, 2022 03 03.
Artigo
Inglês
| MEDLINE | ID: mdl-35120629
3.
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.
Genet Med
; 25(1): 135-142, 2023 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36399134
4.
De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.
Am J Hum Genet
; 104(4): 758-766, 2019 04 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30929739
5.
Phenotype based prediction of exome sequencing outcome using machine learning for neurodevelopmental disorders.
Genet Med
; 24(3): 645-653, 2022 03.
Artigo
Inglês
| MEDLINE | ID: mdl-34906484
6.
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
Inglês
| MEDLINE | ID: mdl-35499524
7.
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Genet Med
; 24(8): 1753-1760, 2022 08.
Artigo
Inglês
| MEDLINE | ID: mdl-35579625
8.
Constraint and conservation of paired-type homeodomains predicts the clinical outcome of missense variants of uncertain significance.
Hum Mutat
; 41(8): 1407-1424, 2020 08.
Artigo
Inglês
| MEDLINE | ID: mdl-32383243
9.
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.
Am J Hum Genet
; 100(6): 907-925, 2017 Jun 01.
Artigo
Inglês
| MEDLINE | ID: mdl-28575647
10.
DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome.
Am J Hum Genet
; 96(4): 612-22, 2015 Apr 02.
Artigo
Inglês
| MEDLINE | ID: mdl-25817016
11.
Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems.
Am J Hum Genet
; 96(3): 386-96, 2015 Mar 05.
Artigo
Inglês
| MEDLINE | ID: mdl-25704603
12.
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.
Am J Hum Genet
; 97(1): 99-110, 2015 Jul 02.
Artigo
Inglês
| MEDLINE | ID: mdl-26119818
13.
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Genet Med
; 25(2): 100004, 2023 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-36745127
14.
Quantification of Phenotype Information Aids the Identification of Novel Disease Genes.
Hum Mutat
; 38(5): 594-599, 2017 05.
Artigo
Inglês
| MEDLINE | ID: mdl-28074630
15.
Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems.
Am J Hum Genet
; 94(5): 649-61, 2014 May 01.
Artigo
Inglês
| MEDLINE | ID: mdl-24726472
16.
Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase.
Am J Hum Genet
; 92(5): 781-91, 2013 May 02.
Artigo
Inglês
| MEDLINE | ID: mdl-23623387
17.
Mutations in MED12 cause X-linked Ohdo syndrome.
Am J Hum Genet
; 92(3): 401-6, 2013 Mar 07.
Artigo
Inglês
| MEDLINE | ID: mdl-23395478
18.
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.
Nucleic Acids Res
; 42(Database issue): D966-74, 2014 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-24217912
19.
Variants in CUL4B are associated with cerebral malformations.
Hum Mutat
; 36(1): 106-17, 2015 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-25385192
20.
Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.
Hum Mol Genet
; 22(10): 1960-70, 2013 May 15.
Artigo
Inglês
| MEDLINE | ID: mdl-23390136