Search details
1.
Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype.
Am J Hum Genet
; 109(1): 136-156, 2022 01 06.
Article
in English
| MEDLINE | ID: mdl-34890546
2.
Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group.
Genet Med
; 26(3): 101036, 2024 Mar.
Article
in English
| MEDLINE | ID: mdl-38054408
3.
Somatic variants as a cause of drug-resistant epilepsy including mesial temporal lobe epilepsy with hippocampal sclerosis.
Epilepsia
; 65(5): 1451-1461, 2024 May.
Article
in English
| MEDLINE | ID: mdl-38491957
4.
Everolimus precision therapy for the GATOR1-related epilepsies: A case series.
Eur J Neurol
; 30(10): 3341-3346, 2023 10.
Article
in English
| MEDLINE | ID: mdl-37422919
5.
Whole exome sequencing studies in epilepsy: A deep analysis of the published literature.
Am J Med Genet A
; 188(5): 1407-1419, 2022 05.
Article
in English
| MEDLINE | ID: mdl-35088532
6.
A Rare Autosomal Dominant Variant in Regulator of Calcineurin Type 1 (RCAN1) Gene Confers Enhanced Calcineurin Activity and May Cause FSGS.
J Am Soc Nephrol
; 32(7): 1682-1695, 2021 Jul.
Article
in English
| MEDLINE | ID: mdl-33863784
7.
Utility of Genomic Testing after Renal Biopsy.
Am J Nephrol
; 51(1): 43-53, 2020.
Article
in English
| MEDLINE | ID: mdl-31822006
8.
Renal transplant outcomes in patients with autosomal dominant tubulointerstitial kidney disease.
Clin Transplant
; 34(2): e13783, 2020 02.
Article
in English
| MEDLINE | ID: mdl-31958169
9.
Monogenic causes of chronic kidney disease in adults.
Kidney Int
; 95(4): 914-928, 2019 04.
Article
in English
| MEDLINE | ID: mdl-30773290
10.
Development of a genomics module within an epilepsy-specific electronic health record: Toward genomic medicine in epilepsy care.
Epilepsia
; 60(8): 1670-1677, 2019 08.
Article
in English
| MEDLINE | ID: mdl-31297800
11.
Voluntary Deep Inspiration Breath-hold Reduces the Heart Dose Without Compromising the Target Volume Coverage During Radiotherapy for Left-sided Breast Cancer.
Radiol Oncol
; 52(1): 112-120, 2018 Mar.
Article
in English
| MEDLINE | ID: mdl-29520213
12.
The genetic basis of asymptomatic codon 8 frame-shift (HBB:c25_26delAA) ß(0) -thalassaemia homozygotes.
Br J Haematol
; 172(6): 958-65, 2016 Mar.
Article
in English
| MEDLINE | ID: mdl-26771086
13.
The impact of spiritual well-being and social support on substance use treatment outcomes within a sample of predominantly Black/African American adults.
J Subst Use Addict Treat
; 158: 209238, 2024 03.
Article
in English
| MEDLINE | ID: mdl-38061630
14.
High-intensity sweet taste as a predictor of subjective alcohol responses to the ascending limb of an intravenous alcohol prime: an fMRI study.
Neuropsychopharmacology
; 49(2): 396-404, 2024 Jan.
Article
in English
| MEDLINE | ID: mdl-37550441
15.
Familial Variability of Disease Severity in Adult Patients With ADPKD.
Kidney Int Rep
; 9(3): 649-660, 2024 Mar.
Article
in English
| MEDLINE | ID: mdl-38481516
16.
Donor genetic burden for cerebrovascular risk and kidney transplant outcome.
J Nephrol
; 2024 May 29.
Article
in English
| MEDLINE | ID: mdl-38809363
17.
Understanding the Clinical Significance of MUC5AC in Biliary Tract Cancers.
Cancers (Basel)
; 15(2)2023 Jan 09.
Article
in English
| MEDLINE | ID: mdl-36672382
18.
Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data.
medRxiv
; 2023 Dec 21.
Article
in English
| MEDLINE | ID: mdl-38196618
19.
Germline mosaicism in a family with MBD5 haploinsufficiency.
Cold Spring Harb Mol Case Stud
; 8(7)2022 12.
Article
in English
| MEDLINE | ID: mdl-36396431
20.
Inclusion of older adults and reporting of consent processes in randomized controlled trials in the emergency department: A scoping review.
J Am Coll Emerg Physicians Open
; 3(4): e12774, 2022 Aug.
Article
in English
| MEDLINE | ID: mdl-35919513