Literature DB >> 32202640

Small Data Challenges of Studying Rare Diseases.

Aya A Mitani1, Sebastien Haneuse1,2.   

Abstract

Year:  2020        PMID： 32202640     DOI： 10.1001/jamanetworkopen.2020.1965

Source DB:  PubMed          Journal:  JAMA Netw Open        ISSN： 2574-3805


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  15 in total

1.  Patient involvement in rare diseases research: a scoping review of the literature and mixed method evaluation of Norwegian researchers' experiences and perceptions.

Authors:  Gry Velvin; Thale Hartman; Trine Bathen
Journal:  Orphanet J Rare Dis       Date:  2022-05-31       Impact factor: 4.303

Review 2.  New Developments and Possibilities in Reanalysis and Reinterpretation of Whole Exome Sequencing Datasets for Unsolved Rare Diseases Using Machine Learning Approaches.

Authors:  Samarth Thonta Setty; Marie-Pier Scott-Boyer; Tania Cuppens; Arnaud Droit
Journal:  Int J Mol Sci       Date:  2022-06-18       Impact factor: 6.208

3.  Patient-derived xenografts and in vitro model show rationale for imatinib mesylate repurposing in HEY1-NCoA2-driven mesenchymal chondrosarcoma.

Authors:  Polona Safaric Tepes; Raffaella Sordella; Danilo Segovia; Sania Jevtic; Daniel Ramirez; Scott K Lyons
Journal:  Lab Invest       Date:  2021-11-26       Impact factor: 5.502

Review 4.  Opportunities and Challenges for Machine Learning in Rare Diseases.

Authors:  Sergio Decherchi; Elena Pedrini; Marina Mordenti; Andrea Cavalli; Luca Sangiorgi
Journal:  Front Med (Lausanne)       Date:  2021-10-05

5.  Why are Birth Defects Surveillance Programs Important?

Authors:  Débora Gusmão Melo; Maria Teresa Vieira Sanseverino; Thanyse de Oliveira Schmalfuss; Mariela Larrandaburu
Journal:  Front Public Health       Date:  2021-11-02

6.  Molecular Classification and Interpretation of Amyotrophic Lateral Sclerosis Using Deep Convolution Neural Networks and Shapley Values.

Authors:  Abdul Karim; Zheng Su; Phillip K West; Matthew Keon; Jannah Shamsani; Samuel Brennan; Ted Wong; Ognjen Milicevic; Guus Teunisse; Hima Nikafshan Rad; Abdul Sattar
Journal:  Genes (Basel)       Date:  2021-10-30       Impact factor: 4.096

7.  Attention-Deficit/Hyperactivity Disorder Among US Children and Adolescents With Congenital Adrenal Hyperplasia.

Authors:  Lauren A Harasymiw; Scott D Grosse; Kyriakie Sarafoglou
Journal:  J Endocr Soc       Date:  2020-10-14

8.  Low-dose methadone for refractory chronic migraine accompanied by medication-overuse headache: a prospective cohort study.

Authors:  Silvia Benemei; Chiara Lupi; Francesco De Cesaris; Niccolò Lombardi; Alessandra Bettiol; Alberto Chiarugi; Pierangelo Geppetti; Valentina Galli; Chiara Pracucci; Brunella Occupati; Guido Mannaioni
Journal:  Neurol Sci       Date:  2020-07-20       Impact factor: 3.307

9.  VIRTUAL CLINICAL TRIALS IN MEDICAL IMAGING SYSTEM EVALUATION AND OPTIMISATION.

Authors:  Bruno Barufaldi; Andrew D A Maidment; Magnus Dustler; Rebecca Axelsson; Hanna Tomic; Sophia Zackrisson; Anders Tingberg; Predrag R Bakic
Journal:  Radiat Prot Dosimetry       Date:  2021-10-12       Impact factor: 0.972

10.  A phase Ib/IIa clinical trial of dantrolene sodium in patients with Wolfram syndrome.

Authors:  Damien Abreu; Stephen I Stone; Toni S Pearson; Robert C Bucelli; Ashley N Simpson; Stacy Hurst; Cris M Brown; Kelly Kries; Chinyere Onwumere; Hongjie Gu; James Hoekel; Lawrence Tychsen; Gregory P Van Stavern; Neil H White; Bess A Marshall; Tamara Hershey; Fumihiko Urano
Journal:  JCI Insight       Date:  2021-08-09
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