Detalhe da pesquisa
1.
Identification of skewed X chromosome inactivation using exome and transcriptome sequencing in patients with suspected rare genetic disease.
BMC Genomics
; 25(1): 371, 2024 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38627676
2.
Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data.
Hum Genet
; 143(5): 649-666, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38538918
3.
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.
J Med Genet
; 59(10): 965-975, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34930816
4.
RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities.
Am J Hum Genet
; 105(1): 108-121, 2019 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31204009
5.
Interpretation of Dihydrorhodamine-1,2,3 Flow Cytometry in Chronic Granulomatous Disease: an Atypical Exemplar.
J Clin Immunol
; 42(5): 986-999, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35344128
6.
Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome.
Am J Hum Genet
; 102(4): 696-705, 2018 04 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29606302
7.
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
Am J Hum Genet
; 103(5): 666-678, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30343943
8.
LeafCutterMD: an algorithm for outlier splicing detection in rare diseases.
Bioinformatics
; 36(17): 4609-4615, 2020 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32315392
9.
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder.
Genet Med
; 23(2): 384-395, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33173220
10.
Impact of integrated translational research on clinical exome sequencing.
Genet Med
; 23(3): 498-507, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33144682
11.
Correction: Arterial tortuosity syndrome: 40 new families and literature review.
Genet Med
; 21(8): 1894-1895, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30201961
12.
A Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPLX Motif within the Ankyrin Repeat of EHMT1 Leads to Abnormal Protein Folding.
J Biol Chem
; 292(9): 3866-3876, 2017 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28057753
13.
Utility of DNA, RNA, Protein, and Functional Approaches to Solve Cryptic Immunodeficiencies.
J Clin Immunol
; 38(3): 307-319, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29671115
14.
Impact of integrated translational research on clinical exome sequencing.
Genet Med
; 25(2): 100359, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36745126
15.
Arterial tortuosity syndrome: 40 new families and literature review.
Genet Med
; 20(10): 1236-1245, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29323665
16.
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
Am J Hum Genet
; 104(3): 562, 2019 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30849329
17.
Forward Genetic Screening Using Behavioral Tests in Zebrafish: A Proof of Concept Analysis of Mutants.
Behav Genet
; 47(1): 125-139, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27704300
18.
Multigenerational pedigree with STAR syndrome: A novel FAM58A variant and expansion of the phenotype.
Am J Med Genet A
; 173(5): 1328-1333, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28322501
19.
A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor tics.
BMC Med Genet
; 17(1): 93, 2016 Dec 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27919237
20.
Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome.
Acta Neuropathol
; 140(6): 971-975, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33015733