Detalhe da pesquisa
1.
Disruptive CHD8 mutations define a subtype of autism early in development.
Cell
; 158(2): 263-276, 2014 Jul 17.
Artigo
em 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
em Inglês
| MEDLINE | ID: mdl-35120629
3.
Expanding the spectrum of phenotypes for MPDZ: Report of four unrelated families and review of the literature.
Clin Genet
; 2024 Jun 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38857973
4.
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
em Inglês
| MEDLINE | ID: mdl-36399134
5.
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
em Inglês
| MEDLINE | ID: mdl-30929739
6.
Phenotype based prediction of exome sequencing outcome using machine learning for neurodevelopmental disorders.
Genet Med
; 24(3): 645-653, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906484
7.
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
8.
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
em Inglês
| MEDLINE | ID: mdl-35579625
9.
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
em Inglês
| MEDLINE | ID: mdl-32383243
10.
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.
Am J Hum Genet
; 100(6): 907-925, 2017 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28575647
11.
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
em Inglês
| MEDLINE | ID: mdl-25817016
12.
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
em Inglês
| MEDLINE | ID: mdl-25704603
13.
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
em Inglês
| MEDLINE | ID: mdl-26119818
14.
The clustering of functionally related genes contributes to CNV-mediated disease.
Genome Res
; 25(6): 802-13, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25887030
15.
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Genet Med
; 25(2): 100004, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36745127
16.
Gene networks underlying convergent and pleiotropic phenotypes in a large and systematically-phenotyped cohort with heterogeneous developmental disorders.
PLoS Genet
; 11(3): e1005012, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25781962
17.
Quantification of Phenotype Information Aids the Identification of Novel Disease Genes.
Hum Mutat
; 38(5): 594-599, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28074630
18.
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
em Inglês
| MEDLINE | ID: mdl-24726472
19.
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
em Inglês
| MEDLINE | ID: mdl-23623387
20.
Mutations in MED12 cause X-linked Ohdo syndrome.
Am J Hum Genet
; 92(3): 401-6, 2013 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23395478