Detalhe da pesquisa
1.
Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability.
Am J Hum Genet
; 111(3): 509-528, 2024 Mar 07.
Artigo
Inglês
| MEDLINE | ID: mdl-38412861
2.
Identification of a robust DNA methylation signature for Fanconi anemia.
Am J Hum Genet
; 110(11): 1938-1949, 2023 11 02.
Artigo
Inglês
| MEDLINE | ID: mdl-37865086
3.
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Am J Hum Genet
; 108(3): 502-516, 2021 03 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33596411
4.
Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome, caused by variants in the CTCF gene.
Genet Med
; 26(3): 101041, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-38054406
5.
Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases.
Genet Med
; 26(5): 101075, 2024 May.
Artigo
Inglês
| MEDLINE | ID: mdl-38251460
6.
DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7.
Genet Med
; 26(3): 101050, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-38126281
7.
Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals.
Genet Med
; 26(1): 101007, 2024 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-37860968
8.
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
Am J Hum Genet
; 106(3): 356-370, 2020 03 05.
Artigo
Inglês
| MEDLINE | ID: mdl-32109418
9.
DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder.
Genet Med
; 25(8): 100871, 2023 08.
Artigo
Inglês
| MEDLINE | ID: mdl-37120726
10.
DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency.
Genet Med
; 25(1): 63-75, 2023 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36399132
11.
Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature.
Genet Med
; 25(1): 49-62, 2023 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36322151
12.
A Rational Approach to JAK2 Mutation Testing in Patients with Elevated Hemoglobin: Results from the JAK2 Prediction Cohort (JAKPOT) Study.
J Gen Intern Med
; 38(8): 1828-1833, 2023 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-36451015
13.
Functional Insight into and Refinement of the Genomic Boundaries of the JARID2-Neurodevelopmental Disorder Episignature.
Int J Mol Sci
; 24(18)2023 Sep 18.
Artigo
Inglês
| MEDLINE | ID: mdl-37762546
14.
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders.
Hum Mutat
; 43(11): 1609-1628, 2022 11.
Artigo
Inglês
| MEDLINE | ID: mdl-35904121
15.
Functional annotation of genomic variation: DNA methylation episignatures in neurodevelopmental Mendelian disorders.
Hum Mol Genet
; 29(R1): R27-R32, 2020 09 30.
Artigo
Inglês
| MEDLINE | ID: mdl-32644126
16.
Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions.
Am J Hum Genet
; 104(4): 685-700, 2019 04 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30929737
17.
DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies.
Genet Med
; 24(1): 51-60, 2022 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34906459
18.
DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome.
Int J Mol Sci
; 23(14)2022 Jul 20.
Artigo
Inglês
| MEDLINE | ID: mdl-35887345
19.
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome.
Int J Mol Sci
; 23(3)2022 Feb 05.
Artigo
Inglês
| MEDLINE | ID: mdl-35163737
20.
Episignature Mapping of TRIP12 Provides Functional Insight into Clark-Baraitser Syndrome.
Int J Mol Sci
; 23(22)2022 Nov 08.
Artigo
Inglês
| MEDLINE | ID: mdl-36430143