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American Journal of Human Genetics|December 1, 2014
Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathologyGabrielle R Wilson, Joe C H Sim, Catriona McLean, 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.
Genome Research|February 27, 2025
A prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxiaHaloom Rafehi, Liam G Fearnley, Justin Read, et al.
Medrxiv : the Preprint Server for Health Sciences|June 9, 2023
Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variantsCorrine Smolen, Matthew Jensen, Lisa Dyer, et al.
American Heart Journal|June 2, 2020
Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variantsJohanna C Herkert, Judith M A Verhagen, Raquel Yotti, et al.
Medrxiv : the Preprint Server for Health Sciences|December 3, 2025
Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasiaBreana Galea, Joshua Reid, Samuel Gooley, et al.
American Journal of Human Genetics|November 18, 2023
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variantsCorrine Smolen, Matthew Jensen, Lisa Dyer, et al.
Ebiomedicine|December 27, 2023
Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansionsJean-Loup Méreaux, Claire-Sophie Davoine, David Pellerin, et al.
Nature Genetics|September 15, 2014
Refining analyses of copy number variation identifies specific genes associated with developmental delayBradley P Coe, Kali Witherspoon, Jill A Rosenfeld, et al.
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