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Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 7, 2021
Ensuring best practice in genomics education and evaluation: reporting item standards for education and its evaluation in genomics (RISE2 Genomics)Amy Nisselle, Monika Janinski, Melissa Martyn, et al.
Medrxiv : the Preprint Server for Health Sciences|July 15, 2025
Scalable automated reanalysis of genomic data in research and clinical rare disease cohortsMatthew J Welland, K D Ahlquist, Paul De Fazio, et al.
Nature Medicine|June 24, 2026
Automated reanalysis of genomic data for rare disease diagnostics at scaleMatthew J Welland, K D Ahlquist, Paul De Fazio, et al.
Eclinicalmedicine|April 28, 2025
Integrating International Consensus Guidelines for Anticancer Drug Dosing in Kidney Dysfunction (ADDIKD) into everyday practiceGeeta Sandhu, Josephine Adattini, Evangeline Armstrong Gordon, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|February 22, 2019
SMPD1 mutations, activity, and α-synuclein accumulation in Parkinson's diseaseRoy N Alcalay, Victoria Mallett, Benoît Vanderperre, et al.
Biorxiv : the Preprint Server for Biology|December 25, 2025
Benchmarking of duplex sequencing approaches to reveal somatic mutation landscapesYang Zhang, Vinayak V Viswanadham, Michail Andreopoulos, et al.
Kidney International|January 21, 2026
Genotype-phenotype characteristics and disease progression of FAN1-related karyomegalic tubulointerstitial nephropathyMichelle Clince, Elhussein A E Elhassan, Kendrah Kidd, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|May 19, 2025
Genotype-Phenotype Correlations and Clinical Outcomes of Genetic TRPC6 PodocytopathiesSusan M McAnallen, Elhussein A E Elhassan, Sinead Stoneman, et al.
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