Detalhe da pesquisa
1.
Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data.
Hum Genet
; 2024 Mar 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38538918
2.
Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).
J Transl Med
; 21(1): 410, 2023 Jun 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37353797
3.
Neurofibromatosis 1 in the setting of dual diagnosis: Diagnostic and management conundrums.
Am J Med Genet A
; 188(3): 911-918, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34797032
4.
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.
Am J Hum Genet
; 102(1): 69-87, 2018 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29290338
5.
Recurrent ganglioneuroma in PTPN11-associated Noonan syndrome: A case report and literature review.
Am J Med Genet A
; 185(6): 1883-1887, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33779033
6.
Protein-elongating mutations in MYH11 are implicated in a dominantly inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal disease.
Hum Mutat
; 41(5): 973-982, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31944481
7.
Correction: Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).
J Transl Med
; 22(1): 400, 2024 Apr 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38689323
8.
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
9.
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.
Brain
; 141(11): 3160-3178, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30351409
10.
Updated Imaging Features of Dysplastic Cerebellar Gangliocytoma.
J Comput Assist Tomogr
; 43(2): 277-281, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30407243
11.
A case of YY1-associated syndromic learning disability or Gabriele-de Vries syndrome with myasthenia gravis.
Am J Med Genet A
; 176(12): 2846-2849, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30549423
12.
Ekbom Syndrome: Ataxia, Myoclonus, and Cervical Lipomas.
Ann Neurol
; 89(3): 623-624, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33341990
13.
Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentigines.
J Med Genet
; 53(2): 123-6, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26337637
14.
Review of Commercially Available Epilepsy Genetic Panels.
J Genet Couns
; 25(2): 213-7, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26536886
15.
Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: a case of gonadal mosaicism.
Am J Med Genet A
; 164A(9): 2356-9, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24888332
16.
Ketogenic diet.
Can J Neurol Sci
; 40(2): 158-67, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23419562
17.
Retinal Vasculopathy With Cerebral Leukoencephalopathy and Systemic Manifestations: Critical Role of Retina Specialists.
J Vitreoretin Dis
; 7(2): 171-177, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37006667
18.
Adult-onset leukodystrophies: a practical guide, recent treatment updates, and future directions.
Front Neurol
; 14: 1219324, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37564735
19.
Detection of gonadal mosaicism in Hartsfield syndrome by next generation sequencing.
Am J Med Genet A
; 170(12): 3359, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27604603
20.
A population-based study of long-term outcome of epilepsy in childhood with a focal or hemispheric lesion on neuroimaging.
Epilepsia
; 52(8): 1522-6, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21762438