Detalhe da pesquisa
1.
Repeat expansions nested within tandem CNVs: a unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation.
Hum Mol Genet
; 32(1): 46-54, 2023 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35913761
2.
Sustained OMA1-mediated integrated stress response is beneficial for spastic ataxia type 5.
Brain
; 147(3): 1043-1056, 2024 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37804316
3.
Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature.
J Med Genet
; 61(3): 212-223, 2024 Feb 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37788905
4.
LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants.
BMC Genomics
; 25(1): 115, 2024 Jan 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38279154
5.
Genomic analysis, immunomodulation and deep phenotyping of patients with nodding syndrome.
Brain
; 146(3): 968-976, 2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36181424
6.
Risks and benefits of anesthesia for combined pediatric procedures in the NIH undiagnosed diseases program.
Mol Genet Metab
; 140(3): 107707, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37883914
7.
A de novo hexokinase 1 (HK1) variant presenting as Boucher-Neuhäuser syndrome.
Am J Med Genet A
; 191(2): 624-629, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36541585
8.
Gene expression changes in Tay-Sachs disease begin early in fetal brain development.
J Inherit Metab Dis
; 46(4): 687-694, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36700853
9.
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.
Brain
; 145(1): 208-223, 2022 03 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34382076
10.
Correction: yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development.
PLoS Genet
; 16(10): e1009156, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-33104717
11.
yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development.
PLoS Genet
; 16(6): e1008841, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32544203
12.
Systematic analysis of physical examination characteristics of 94 individuals with Joubert syndrome: Keys to suspecting the diagnosis.
Am J Med Genet C Semin Med Genet
; 190(1): 121-130, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35312150
13.
Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.
Am J Hum Genet
; 104(6): 1127-1138, 2019 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31155284
14.
Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome.
Ann Rheum Dis
; 81(10): 1453-1464, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35868845
15.
Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST.
Mov Disord
; 37(12): 2440-2446, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36103453
16.
Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases Program.
J Inherit Metab Dis
; 45(5): 907-918, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35490291
17.
Early Vasopressor Utilization Strategies and Outcomes in Critically Ill Patients With Severe Traumatic Brain Injury.
Anesth Analg
; 135(6): 1245-1252, 2022 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35203085
18.
Association of Vasopressor Choice with Clinical and Functional Outcomes Following Moderate to Severe Traumatic Brain Injury: A TRACK-TBI Study.
Neurocrit Care
; 36(1): 180-191, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34341913
19.
Utilization of Brain Tissue Oxygenation Monitoring and Association with Mortality Following Severe Traumatic Brain Injury.
Neurocrit Care
; 36(2): 350-356, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34845596
20.
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy.
Hum Genet
; 140(12): 1709-1731, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34652576