Detalhe da pesquisa
1.
Formin-mediated nuclear actin at androgen receptors promotes transcription.
Nature
; 617(7961): 616-622, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-36972684
2.
Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.
Nature
; 614(7948): 564-571, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36755093
3.
Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.
PLoS Genet
; 17(7): e1009679, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34324492
4.
Correction: Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.
PLoS Genet
; 17(9): e1009809, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34547032
5.
A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development.
Am J Hum Genet
; 104(5): 985-989, 2019 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31006513
6.
Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome is caused by de novo mutations in protein kinase D1.
J Med Genet
; 58(6): 415-421, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32817298
7.
Genome sequencing in families with congenital limb malformations.
Hum Genet
; 140(8): 1229-1239, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34159400
8.
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.
Hum Mutat
; 40(9): 1557-1578, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31131967
9.
Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants.
Genet Med
; 21(8): 1899, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30327536
10.
TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants.
Genet Med
; 21(3): 601-607, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30245509
11.
CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.
Genet Med
; 21(12): 2723-2733, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31239556
12.
Hematopoietic stem cell involvement in BCR-ABL1-positive ALL as a potential mechanism of resistance to blinatumomab therapy.
Blood
; 130(18): 2027-2031, 2017 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28827408
13.
Annular pancreas in two sisters: The story goes on.
Am J Med Genet A
; 194(2): 400-401, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37789234
14.
CDH1 mutation screen in a BRCA1/2-negative familial breast-/ovarian cancer cohort.
Arch Gynecol Obstet
; 297(1): 147-152, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28993866
15.
Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.
Am J Hum Genet
; 95(6): 763-70, 2014 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25480037
16.
Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy.
Am J Hum Genet
; 93(1): 67-77, 2013 Jul 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-23768516
17.
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.
Hum Mol Genet
; 22(25): 5121-35, 2013 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-23906836
18.
Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.
Hum Genet
; 134(6): 553-68, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25724810
19.
Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.
Am J Hum Genet
; 90(2): 369-77, 2012 Feb 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-22305528
20.
Partial hydatidiform mole with extensive angiomatoid vessel configuration in a first trimester miscarriage.
Int J Gynecol Pathol
; 34(3): 253-6, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25844548