Detalhe da pesquisa
1.
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Am J Hum Genet
; 108(3): 502-516, 2021 03 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33596411
2.
Genetic Testing Goes Beyond Imaging and Histological Evaluation in Pleuroparenchymal Fibroelastosis.
Lung
; 202(2): 151-156, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38461429
3.
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
4.
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.
J Med Genet
; 59(10): 965-975, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34930816
5.
Pancreatic cancer risk to siblings of probands in bilineal cancer settings.
Genet Med
; 24(5): 1008-1016, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35227607
6.
Impact of integrated translational research on clinical exome sequencing.
Genet Med
; 23(3): 498-507, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33144682
7.
Safety and efficacy of (+)-epicatechin in subjects with Friedreich's ataxia: A phase II, open-label, prospective study.
J Inherit Metab Dis
; 44(2): 502-514, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32677106
8.
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
9.
Perspectives on facilitating whole exome sequencing for international patients at Mayo Clinic.
J Genet Couns
; 28(2): 398-406, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30762915
10.
A Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPLX Motif within the Ankyrin Repeat of EHMT1 Leads to Abnormal Protein Folding.
J Biol Chem
; 292(9): 3866-3876, 2017 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28057753
11.
Impact of integrated translational research on clinical exome sequencing.
Genet Med
; 25(2): 100359, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36745126
12.
Increasing genetic counseling referral rates through bundled interventions after ovarian cancer diagnosis.
Gynecol Oncol
; 149(1): 121-126, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29402500
13.
Establishing a nephrology genetic clinic.
Kidney Int
; 100(2): 254-259, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34294204
14.
Comment on: Anti-tumour necrosis factor treatment for the prevention of ischaemic events in patients with deficiency of adenosine deaminase 2 (DADA2).
Rheumatology (Oxford)
; 60(6): e218-e219, 2021 06 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-33515254
15.
The Genetic Counselor's Role in Managing Ethical Dilemmas Arising in the Laboratory Setting.
J Genet Couns
; 25(5): 838-54, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27103422
16.
Successful Treatment of Skewed Lyonization Associated with X-Linked CGD in a Female Presenting with Recalcitrant Crohn's Disease.
J Clin Immunol
; 40(7): 1056-1061, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32720229
17.
Diagnostic yield of exome and genome sequencing after non-diagnostic multi-gene panels in patients with single-system diseases.
Orphanet J Rare Dis
; 19(1): 216, 2024 May 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38790019
18.
Risk of Syndrome-Associated Cancers Among First-Degree Relatives of Patients With Pancreatic Ductal Adenocarcinoma With Pathogenic or Likely Pathogenic Germline Variants.
JAMA Oncol
; 9(7): 955-961, 2023 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37200008
19.
Incorporation of Genetic Studies in the Kidney Transplant Evaluation Clinic: The Value of a Multidisciplinary Approach.
Transplantation
; 107(4): 952-960, 2023 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36253919
20.
Genomics Integration Into Nephrology Practice.
Kidney Med
; 3(5): 785-798, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34746741