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American Journal of Medical Genetics. Part A|January 13, 2021
AIFM1-associated X-linked spondylometaphyseal dysplasia with cerebral hypomyelinationKatharine Edgerley, Angela Barnicoat, Amaka C Offiah, et al.
Kidney International|November 28, 2008
Mutations in phospholipase C epsilon 1 are not sufficient to cause diffuse mesangial sclerosisRodney D Gilbert, Claire L S Turner, Jane Gibson, et al.
European Journal of Human Genetics : EJHG|March 11, 2026
HiFi long-read RNA sequencing enhances clinical diagnostics in rare disordersCarolina Jaramillo Oquendo, Federico Ferraro, Htoo A Wai, et al.
American Journal of Human Genetics|February 7, 2008
Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathwaysPreeti Bakrania, Maria Efthymiou, Johannes C Klein, et al.
European Journal of Human Genetics : EJHG|August 4, 2005
Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndromeTony Charman, Tracey C S Neilson, Veronica Mash, et al.
Human Mutation|May 8, 2026
Variant Curation of the Largest Compendium of FOXL2 Coding and Noncoding Sequence and Structural Variants in BPESCharlotte Matton, Julie Van De Velde, Marieke De Bruyne, et al.
Human Genetics|January 3, 2024
Predicting the impact of rare variants on RNA splicing in CAGI6Jenny Lord, Carolina Jaramillo Oquendo, Htoo A Wai, et al.
Human Mutation|February 11, 2011
Recurrence and variability of germline EPCAM deletions in Lynch syndromeRoland P Kuiper, Lisenka E L M Vissers, Ramprasath Venkatachalam, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 6, 2025
Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndromeSusan Walker, David J Bunyan, Huw B Thomas, et al.
The Lancet. Oncology|December 15, 2010
Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort studyMarlies J E Kempers, Roland P Kuiper, Charlotte W Ockeloen, et al.
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