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Cell Reports|March 8, 2025
Haploinsufficiency of ITSN1 is associated with a substantial increased risk of Parkinson's diseaseThomas P Spargo, Chloe F Sands, Isabella R Juan, et al.
Small (Weinheim an Der Bergstrasse, Germany)|June 17, 2022
Growth Optimization and Device Integration of Narrow-Bandgap Graphene NanoribbonsGabriela Borin Barin, Qiang Sun, Marco Di Giovannantonio, et al.
Clinical Genetics|March 24, 2022
El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotypeMohammed Almannai, Dana Marafi, Ghada M H Abdel-Salam, et al.
Brain : a Journal of Neurology|April 12, 2023
Cation leak through the ATP1A3 pump causes spasticity and intellectual disabilityDaniel G Calame, Cristina Moreno Vadillo, Seth Berger, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 13, 2021
Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsyDaniel G Calame, Somayeh Bakhtiari, Rachel Logan, et al.
World Journal of Surgery|January 17, 2023
The Angers CT Score is a Risk Factor for the Failure of the Conservative Management of Adhesive Small Bowel Obstruction: A Prospective Observational Multicentric StudyAnita Paisant, Jeanne Burgmaier, Paul Calame, et al.
American Journal of Human Genetics|January 16, 2026
Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disordersJesse M Levine, Daniel G Calame, Riccardo Sangermano, et al.
Science Advances|October 17, 2025
CEP76 impairment at the centrosome-cilium interface contributes to a spectrum of ciliopathiesKamal Khan, Erika Tavares, Katherine Bishara, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 24, 2024
Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinomaMengqi Ma, Mythily Ganapathi, Yiming Zheng, et al.
European Journal of Human Genetics : EJHG|May 15, 2023
Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individualsHenrike L Sczakiel, Max Zhao, Brigitte Wollert-Wulf, et al.
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