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Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 14, 2022
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded proteinElke de Boer, Charlotte W Ockeloen, Rosalie A Kampen, et al.BMC Genetics|June 9, 2016
Genome-wide imputation study identifies novel HLA locus for pulmonary fibrosis and potential role for auto-immunity in fibrotic idiopathic interstitial pneumoniaTasha E Fingerlin, Weiming Zhang, Ivana V Yang, et al.Journal of Intellectual Disability Research : JIDR|October 9, 2020
Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromesP A Mulder, I D C van Balkom, A M Landlust, et al.JAMA|May 18, 2025
A Multidimensional Diagnostic Approach for Chronic Obstructive Pulmonary Disease, Surya P Bhatt, Ehsan Abadi, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 27, 2019
CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrumEnrico D H Konrad, Niels Nardini, Almuth Caliebe, et al.COPD|March 21, 2012
A combined pulmonary-radiology workshop for visual evaluation of COPD: study design, chest CT findings and concordance with quantitative evaluation, R Graham Barr, Eugene A Berkowitz, et al.JAMA|July 12, 2022
Effect of Pharmacogenomic Testing for Drug-Gene Interactions on Medication Selection and Remission of Symptoms in Major Depressive Disorder: The PRIME Care Randomized Clinical TrialDavid W Oslin, Kevin G Lynch, Mei-Chiung Shih, et al.Genome Biology|November 12, 2016
Genome of the Asian longhorned beetle (Anoplophora glabripennis), a globally significant invasive species, reveals key functional and evolutionary innovations at the beetle-plant interfaceDuane D McKenna, Erin D Scully, Yannick Pauchet, et al.Nature Cancer|January 26, 2026
Genomic risk model to implement precision prostate cancer screening in clinical care: the ProGRESS studyJason L Vassy, Anna M Dornisch, Roshan Karunamuni, et al.Medrxiv : the Preprint Server for Health Sciences|September 26, 2025
Germline Variants Influence Chronic Liver Disease Progression through Distinct PathwaysMarijana Vujkovic, David E Kaplan, Jonas Ghouse, et al.Pageof 179