Detalhe da pesquisa
1.
The Parent PrU: A measure to assess personal utility of pediatric genomic results.
Genet Med
; 26(1): 100994, 2024 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-37838931
2.
Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder.
Genet Med
; : 101166, 2024 May 16.
Artigo
Inglês
| MEDLINE | ID: mdl-38767059
3.
The PrU: Development and validation of a measure to assess personal utility of genomic results.
Genet Med
; 25(3): 100356, 2023 03.
Artigo
Inglês
| MEDLINE | ID: mdl-36516964
4.
Perceived utility and disutility of genomic sequencing for pediatric patients: Perspectives from parents with diverse sociodemographic characteristics.
Am J Med Genet A
; 188(4): 1088-1101, 2022 04.
Artigo
Inglês
| MEDLINE | ID: mdl-34981646
5.
Genetic counselor roles in the undiagnosed diseases network research study: Clinical care, collaboration, and curation.
J Genet Couns
; 31(2): 326-337, 2022 04.
Artigo
Inglês
| MEDLINE | ID: mdl-34374469
6.
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.
Am J Hum Genet
; 102(3): 494-504, 2018 03 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29478781
7.
Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science.
Genet Med
; 23(2): 259-271, 2021 02.
Artigo
Inglês
| MEDLINE | ID: mdl-33093671
8.
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.
Acta Neuropathol
; 139(3): 415-442, 2020 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31820119
9.
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.
J Inherit Metab Dis
; 43(6): 1333-1348, 2020 11.
Artigo
Inglês
| MEDLINE | ID: mdl-32681751
10.
ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis.
Genet Med
; 21(7): 1585-1593, 2019 07.
Artigo
Inglês
| MEDLINE | ID: mdl-30514889
11.
Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review.
Am J Med Genet A
; 179(6): 966-977, 2019 06.
Artigo
Inglês
| MEDLINE | ID: mdl-30920161
12.
Genomics in medicine: a novel elective rotation for internal medicine residents.
Postgrad Med J
; 95(1128): 569-572, 2019 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-31439813
13.
A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing.
J Genet Couns
; 28(2): 213-228, 2019 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30964584
14.
Developing a genomics rotation: Practical training around variant interpretation for genetic counseling students.
J Genet Couns
; 28(2): 466-476, 2019 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30706981
15.
Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing.
J Genet Couns
; 28(6): 1107-1118, 2019 12.
Artigo
Inglês
| MEDLINE | ID: mdl-31478310
16.
Genotype-phenotype correlations in individuals with pathogenic RERE variants.
Hum Mutat
; 39(5): 666-675, 2018 05.
Artigo
Inglês
| MEDLINE | ID: mdl-29330883
17.
A defect in mitochondrial fatty acid synthesis impairs iron metabolism and causes elevated ceramide levels.
Nat Metab
; 5(9): 1595-1614, 2023 09.
Artigo
Inglês
| MEDLINE | ID: mdl-37653044
18.
The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME.
Neurology
; 95(24): e3163-e3179, 2020 12 15.
Artigo
Inglês
| MEDLINE | ID: mdl-33144514
19.
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts.
Nat Med
; 25(6): 911-919, 2019 06.
Artigo
Inglês
| MEDLINE | ID: mdl-31160820
20.
Personal utility in genomic testing: a systematic literature review.
Eur J Hum Genet
; 25(6): 662-668, 2017 06.
Artigo
Inglês
| MEDLINE | ID: mdl-28295040