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Investigative Ophthalmology & Visual Science|March 31, 2025
Gene Identification for Ocular Congenital Cranial Motor Neuron Disorders Using Human Sequencing, Zebrafish Screening, and Protein Binding MicroarraysJulie A Jurgens, Paola M Matos Ruiz, Jessica King, et al.American Journal of Human Genetics|May 16, 2020
Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog SignalingThuy-Linh Le, Yunia Sribudiani, Xiaomin Dong, et al.HGG Advances|May 16, 2022
<i>De novo</i> variants of <i>CSNK2B</i> cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathwayMaria Asif, Emrah Kaygusuz, Marwan Shinawi, et al.Journal of Personalized Medicine|January 6, 2018
Ethical Considerations Related to Return of Results from Genomic Medicine Projects: The eMERGE Network (Phase III) ExperienceRobyn Fossey, David Kochan, Erin Winkler, et al.American Journal of Human Genetics|May 11, 2023
Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophyJoel A Morales-Rosado, Tanya L Schwab, Sarah K Macklin-Mantia, et al.American Journal of Medical Genetics. Part A|July 31, 2019
Phenotype delineation of ZNF462 related syndromePaul Kruszka, Tommy Hu, Sungkook Hong, et al.Medrxiv : the Preprint Server for Health Sciences|January 7, 2025
Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed casesSarah L Stenton, Kristen Laricchia, Nicole J Lake, et al.Medrxiv : the Preprint Server for Health Sciences|February 26, 2024
Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasetsBen Weisburd, Rakshya Sharma, Villem Pata, 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.Pageof 7