Detalhe da pesquisa
1.
Five years of experience in the Epigenetics and Chromatin Clinic: what have we learned and where do we go from here?
Hum Genet
; 2023 Mar 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-36952035
2.
Pathogenic Variants in NUP214 Cause "Plugged" Nuclear Pore Channels and Acute Febrile Encephalopathy.
Am J Hum Genet
; 105(1): 48-64, 2019 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31178128
3.
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.
Genet Med
; 23(6): 1028-1040, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33658631
4.
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Brain
; 143(11): 3242-3261, 2020 12 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33150406
5.
Diagnostic utility of telomere length testing in a hospital-based setting.
Proc Natl Acad Sci U S A
; 115(10): E2358-E2365, 2018 03 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29463756
6.
Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability.
J Med Genet
; 55(8): 561-566, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28866611
7.
Enrolling Genomics Research Participants through a Clinical Setting: the Impact of Existing Clinical Relationships on Informed Consent and Expectations for Return of Research Results.
J Genet Couns
; 27(1): 263-273, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28932961
8.
Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.
Genet Med
; 19(4): 412-420, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27657687
9.
The impact of chromosomal microarray on clinical management: a retrospective analysis.
Genet Med
; 16(9): 657-64, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24625444
10.
A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1.
Am J Med Genet A
; 158A(6): 1414-21, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22585553
11.
Exploring Genes and Phenotypes Within Chromosomal Regions Using OMIM's GeneScout.
Curr Protoc
; 2(9): e530, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-36130039
12.
Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life.
Mol Genet Genomic Med
; 8(2): e1072, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31814321
13.
A novel presentation of DYT 16: acute onset in infancy and association with MRI abnormalities.
Mov Disord
; 28(14): 1937-8, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24142417
14.
Short telomere syndromes cause a primary T cell immunodeficiency.
J Clin Invest
; 128(12): 5222-5234, 2018 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30179220
15.
Loss-of-function mutations in the RNA biogenesis factor NAF1 predispose to pulmonary fibrosis-emphysema.
Sci Transl Med
; 8(351): 351ra107, 2016 08 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27510903
16.
CRB1-Related Maculopathy With Cystoid Macular Edema.
JAMA Ophthalmol
; 133(11): 1357-60, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26312378