Detalhe da pesquisa
1.
Exome/Genome Sequencing in Undiagnosed Syndromes.
Annu Rev Med
; 74: 489-502, 2023 01 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-36706750
2.
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.
Am J Hum Genet
; 109(2): 361-372, 2022 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35051358
3.
The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder.
Hum Mol Genet
; 31(17): 2934-2950, 2022 08 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35405010
4.
The best of both worlds: Blending cutting-edge research with clinical processes for a productive exome clinic.
Clin Genet
; 105(1): 62-71, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37853563
5.
Rare deleterious de novo missense variants in Rnf2/Ring2 are associated with a neurodevelopmental disorder with unique clinical features.
Hum Mol Genet
; 30(14): 1283-1292, 2021 06 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-33864376
6.
Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects.
Am J Hum Genet
; 106(1): 26-40, 2020 01 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31870554
7.
A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network.
Genet Med
; 25(4): 100353, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36481303
8.
Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy.
Genet Med
; 25(9): 100897, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37191094
9.
Unraveling non-participation in genomic research: A complex interplay of barriers, facilitators, and sociocultural factors.
J Genet Couns
; 32(5): 993-1008, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37005744
10.
A recurrent single-exon deletion in TBCK might be under-recognized in patients with infantile hypotonia and psychomotor delay.
Hum Mutat
; 43(12): 1816-1823, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36317458
11.
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration.
EMBO J
; 37(23)2018 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30420557
12.
Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples.
J Genet Couns
; 31(1): 59-70, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34115423
13.
Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science.
Genet Med
; 23(2): 259-271, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33093671
14.
TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study.
Am J Med Genet A
; 185(8): 2417-2433, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34042254
15.
Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.
Hum Mol Genet
; 27(14): 2454-2465, 2018 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29726930
16.
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.
Am J Hum Genet
; 100(2): 343-351, 2017 Feb 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28132692
17.
Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses.
Genet Med
; 22(7): 1269-1275, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32366967
18.
Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis.
Hum Mutat
; 40(8): 1115-1126, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31264822
19.
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.
Am J Hum Genet
; 99(4): 991-999, 2016 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27693232
20.
De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.
Am J Hum Genet
; 99(3): 711-719, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27545680