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American Journal on Intellectual and Developmental Disabilities|August 26, 2025
Which Score for What? Operationalizing Standardized Cognitive Test Performance for the Assessment of ChangeCristan Farmer, Audrey Thurm, Tanvi Das, et al.
Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology|March 23, 2020
Making the GRADE in anaphylaxis management: Toward recommendations integrating values, preferences, context, and shared decision makingMarcus S Shaker, John Oppenheimer, Dana V Wallace, et al.
Medrxiv : the Preprint Server for Health Sciences|November 19, 2025
Genetic Variants in Recurrent Euploid Pregnancy LossMona Aminbeidokhti, Michelle Halstead, Marta Rodriquez-Escriba, et al.
Nature|August 15, 2014
Inappropriate p53 activation during development induces features of CHARGE syndromeJeanine L Van Nostrand, Colleen A Brady, Heiyoun Jung, et al.
The World Allergy Organization Journal|April 3, 2019
Learnings from real-life experience of using omalizumab for chronic urticaria in Latin AmericaIvan Cherrez-Ojeda, Marcus Maurer, Jonathan A Bernstein, et al.
The Journal of Allergy and Clinical Immunology|March 2, 2024
Dupilumab in patients with chronic spontaneous urticaria (LIBERTY-CSU CUPID): Two randomized, double-blind, placebo-controlled, phase 3 trialsMarcus Maurer, Thomas B Casale, Sarbjit S Saini, et al.
Human Molecular Genetics|September 24, 2021
Strong evidence for genotype-phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortiumTess Levy, Jennifer H Foss-Feig, Catalina Betancur, et al.
Journal of Inherited Metabolic Disease|July 2, 2024
MRI in LARS1 deficiency-Spectrum, patterns, and correlation with acute neurological deteriorationNicole Hammann, Dominic Lenz, Alyssa Bianzano, et al.
American Journal on Intellectual and Developmental Disabilities|August 26, 2025
Genetic Subtypes of Phelan-McDermid Syndrome Exhibit Similar Rates of Change Despite Differences in Level of Impairment in Developmental ConstructsTess Levy, Cristan Farmer, Siddharth Srivastava, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 6, 2018
ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosisCole A Deisseroth, Johannes Birgmeier, Ethan E Bodle, et al.
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