Detalhe da pesquisa
1.
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
2.
The book is just being written: The enduring journey of parents of children with emerging- ultrarare disorders.
J Genet Couns
; 2024 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38562053
3.
Somatic variants in diverse genes leads to a spectrum of focal cortical malformations.
Brain
; 145(8): 2704-2720, 2022 08 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35441233
4.
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
5.
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
6.
Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.
N Engl J Med
; 379(22): 2131-2139, 2018 11 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-30304647
7.
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
8.
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
9.
A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative.
Genet Med
; 21(1): 161-172, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29907797
10.
The genome empowerment scale: An assessment of parental empowerment in families with undiagnosed disease.
Clin Genet
; 96(6): 521-531, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31448412
11.
Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.
Genet Med
; 20(4): 464-469, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28914269
12.
Characteristics of undiagnosed diseases network applicants: implications for referring providers.
BMC Health Serv Res
; 18(1): 652, 2018 Aug 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-30134969
13.
Differential gene expression in dentate granule cells in mesial temporal lobe epilepsy with and without hippocampal sclerosis.
Epilepsia
; 57(3): 376-85, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26799155
14.
Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy.
Am J Hum Genet
; 91(2): 293-302, 2012 Aug 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-22863189
15.
HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans.
N Engl J Med
; 364(12): 1134-43, 2011 Mar 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-21428769
16.
Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene.
Eur J Hum Genet
; 32(2): 224-231, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38097767
17.
Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes.
Am J Hum Genet
; 86(5): 707-18, 2010 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-20398883
18.
Parental perspectives of episodic irritability in an ultra-rare genetic disorder associated with NACC1.
Orphanet J Rare Dis
; 18(1): 269, 2023 09 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37667351
19.
Host determinants of HIV-1 control in African Americans.
J Infect Dis
; 201(8): 1141-9, 2010 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20205591
20.
Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey.
Mol Genet Genomic Med
; 9(7): e1665, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33955715