Detalles de la búsqueda
1.
The Parent PrU: A measure to assess personal utility of pediatric genomic results.
Genet Med
; 26(1): 100994, 2024 Jan.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| MEDLINE | ID: mdl-36516964
4.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-36481303
5.
Dynamic landscape and regulation of RNA editing in mammals.
Nature
; 550(7675): 249-254, 2017 10 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-29022589
6.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-34981646
7.
Genetic counselor roles in the undiagnosed diseases network research study: Clinical care, collaboration, and curation.
J Genet Couns
; 31(2): 326-337, 2022 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-34374469
8.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-29478781
9.
Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science.
Genet Med
; 23(2): 259-271, 2021 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-33093671
10.
"Doctors can read about it, they can know about it, but they've never lived with it": How parents use social media throughout the diagnostic odyssey.
J Genet Couns
; 30(6): 1707-1718, 2021 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-34096130
11.
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.
Genet Med
; 22(3): 538-546, 2020 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-31723249
12.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-31820119
13.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-32681751
14.
ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis.
Genet Med
; 21(7): 1585-1593, 2019 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-30514889
15.
A Patient with Sjogren's Syndrome and Subsequent Diagnosis of Inclusion Body Myositis and Light-Chain Amyloidosis.
J Gen Intern Med
; 34(6): 1058-1062, 2019 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-30887439
16.
Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review.
Am J Med Genet A
; 179(6): 966-977, 2019 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-30920161
17.
Genomics in medicine: a novel elective rotation for internal medicine residents.
Postgrad Med J
; 95(1128): 569-572, 2019 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-31439813
18.
A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing.
J Genet Couns
; 28(2): 213-228, 2019 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-30964584
19.
Developing a genomics rotation: Practical training around variant interpretation for genetic counseling students.
J Genet Couns
; 28(2): 466-476, 2019 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-30706981
20.
Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing.
J Genet Couns
; 28(6): 1107-1118, 2019 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31478310