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Plos Genetics|February 27, 2024
Comparison of clinical geneticist and computer visual attention in assessing genetic conditionsDat Duong, Anna Rose Johny, Suzanna Ledgister Hanchard, et al.American Journal of Human Genetics|December 3, 2014
Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndromeMuhammad Sajid Hussain, Agatino Battaglia, Sandra Szczepanski, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|November 28, 2025
Evidence-based classification of genes implicated in skeletal disorders using the ClinGen curation frameworkRyan F Webb, Hannah McCurry, Amanda Girod, et al.NPJ Genomic Medicine|November 18, 2025
RareLink: scalable REDCap-based framework for rare disease interoperability linking international registries to FHIR and PhenopacketsAdam S L Graefe, Filip Rehburg, Samer Alkarkoukly, et al.Medrxiv : the Preprint Server for Health Sciences|May 19, 2025
Linking international registries to FHIR and Phenopackets with RareLink: a scalable REDCap-based framework for rare disease data interoperabilityAdam S L Graefe, Filip Rehburg, Samer Alkarkoukly, et al.Nature Communications|March 14, 2019
Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactylyNajim Lahrouchi, Aman George, Ilham Ratbi, et al.Journal of Human Genetics|April 20, 2021
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analysesAnna Hammarsjö, Maria Pettersson, David Chitayat, et al.American Journal of Human Genetics|October 1, 2019
Autosomal-Recessive Mutations in MESD Cause Osteogenesis ImperfectaShahida Moosa, Guilherme L Yamamoto, Lutz Garbes, et al.American Journal of Human Genetics|June 23, 2023
Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humansLong Guo, Smrithi Salian, Jing-Yi Xue, et al.Nature Genetics|February 11, 2022
GestaltMatcher facilitates rare disease matching using facial phenotype descriptorsTzung-Chien Hsieh, Aviram Bar-Haim, Shahida Moosa, et al.Pageof 5