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JMIR Medical Informatics|September 9, 2024
A Case Demonstration of the Open Health Natural Language Processing Toolkit From the National COVID-19 Cohort Collaborative and the Researching COVID to Enhance Recovery Programs for a Natural Language Processing System for COVID-19 or Postacute Sequelae of SARS CoV-2 Infection: Algorithm Development and ValidationAndrew Wen, Liwei Wang, Huan He, et al.
Human Mutation|July 22, 2008
Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndromeDiane Beysen, Sarah De Jaegere, David Amor, et al.
Nature Nanotechnology|July 10, 2023
Adeno-associated viral vectors for functional intravenous gene transfer throughout the non-human primate brainMiguel R Chuapoco, Nicholas C Flytzanis, Nick Goeden, et al.
Pediatrics|March 17, 2010
Clinical genetic testing for patients with autism spectrum disordersYiping Shen, Kira A Dies, Ingrid A Holm, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|May 15, 2010
Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disordersMichael S L Ching, Yiping Shen, Wen-Hann Tan, et al.
American Journal of Human Genetics|May 15, 2010
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomaliesDavid T Miller, Margaret P Adam, Swaroop Aradhya, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 26, 2022
Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panelsErin Rooney Riggs, Taylor I Bingaman, Carrie-Ann Barry, et al.
Lancet (London, England)|December 17, 2015
Hydroxycarbamide versus chronic transfusion for maintenance of transcranial doppler flow velocities in children with sickle cell anaemia-TCD With Transfusions Changing to Hydroxyurea (TWiTCH): a multicentre, open-label, phase 3, non-inferiority trialRussell E Ware, Barry R Davis, William H Schultz, et al.
HGG Advances|February 20, 2026
Scaling Genomic Reanalysis to Unlock Diagnoses and Transform Rare Disease CareShira Rockowitz, Wanqing Shao, Courtney French, et al.
Annals of Neurology|May 10, 2014
Copy number variation plays an important role in clinical epilepsyHeather Olson, Yiping Shen, Jennifer Avallone, et al.
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