Detalhe da pesquisa
1.
Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions.
Cell
; 161(5): 1012-1025, 2015 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-25959774
2.
HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations.
Genome Res
; 32(7): 1242-1253, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35710300
3.
RIPK4 regulates cell-cell adhesion in epidermal development and homeostasis.
Hum Mol Genet
; 31(15): 2535-2547, 2022 08 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-35220430
4.
Patient perspective in perceived comparative genetic mutation risk: An exploratory review.
Clin Genet
; 105(4): 355-363, 2024 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38339844
5.
Genetics of familial adult myoclonus epilepsy: From linkage studies to noncoding repeat expansions.
Epilepsia
; 64 Suppl 1: S14-S21, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37021642
6.
Measles skin rash: Infection of lymphoid and myeloid cells in the dermis precedes viral dissemination to the epidermis.
PLoS Pathog
; 16(10): e1008253, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33031460
7.
Formation of new chromatin domains determines pathogenicity of genomic duplications.
Nature
; 538(7624): 265-269, 2016 Oct 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-27706140
8.
The spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome.
Proc Natl Acad Sci U S A
; 121(12): e2317601121, 2024 Mar 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38466850
9.
Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants.
Hum Mol Genet
; 28(13): 2133-2142, 2019 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30806661
10.
Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome.
Hum Genet
; 140(7): 1061-1076, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-33811546
11.
Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defects.
Clin Genet
; 100(3): 268-279, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33988253
12.
Craniosynostosis is a feature of CHD7-related CHARGE syndrome.
Am J Med Genet A
; 185(7): 2160-2163, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33844462
13.
Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS).
Int J Mol Sci
; 22(3)2021 Jan 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-33530447
14.
Fundamental role of BMP15 in human ovarian folliculogenesis revealed by null and missense mutations associated with primary ovarian insufficiency.
Hum Mutat
; 41(5): 983-997, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31957178
15.
Craniosynostosis-microphthalmia syndrome belongs to the spectrum of BCOR-related disorders.
Clin Genet
; 98(4): 413-415, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32748437
16.
Tremor is a major feature of 9p13 deletion syndrome.
Am J Med Genet A
; 182(11): 2694-2698, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32896075
17.
H2AFY promoter deletion causes PITX1 endoactivation and Liebenberg syndrome.
J Med Genet
; 56(4): 246-251, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30711920
18.
Recessive mutations in the neuronal isoforms of DST, encoding dystonin, lead to abnormal actin cytoskeleton organization and HSAN type VI.
Hum Mutat
; 40(1): 106-114, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30371979
19.
Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes.
Clin Genet
; 96(3): 246-253, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31090057
20.
Mutations in the NHEJ component XRCC4 cause primordial dwarfism.
Am J Hum Genet
; 96(3): 412-24, 2015 Mar 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-25728776