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Human Mutation|December 28, 2020
GeneBreaker: Variant simulation to improve the diagnosis of Mendelian rare genetic diseasesPhillip A Richmond, Tamar V Av-Shalom, Oriol Fornes, et al.Human Mutation|November 1, 2020
Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndromeDaniel Epting, Lokuliyange D S Senaratne, Elisabeth Ott, et al.Human Mutation|December 10, 2020
Identification of SRSF10 as a regulator of SMN2 ISS-N1Sabrina B Frederiksen, Lise L Holm, Martin R Larsen, et al.Human Mutation|December 10, 2020
New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IVVirginie G Peter, Mathieu Quinodoz, Silvia Sadio, et al.Human Mutation|December 1, 2020
Mitochondrial genome variant m.3250T>C as a possible risk factor for mitochondrial cardiomyopathyTeresa Campbell, Xiaoting Lou, Jesse Slone, et al.Human Mutation|August 28, 2022
Biallelic pathogenic variants in COX11 are associated with an infantile-onset mitochondrial encephalopathyRocio Rius, Neal K Bennett, Kaustuv Bhattacharya, et al.Human Mutation|November 27, 2021
Pseudoexon activation in disease by non-splice site deep intronic sequence variation - wild type pseudoexons constitute high-risk sites in the human genomeUlrika S S Petersen, Thomas K Doktor, Brage S AndresenHuman Mutation|September 23, 2022
ENPP1 deficiency: A clinical update on the relevance of individual variants using a locus-specific patient databaseStephanie A Mercurio, Lauren M Chunn, Gus Khursigara, et al.Human Mutation|March 19, 2021
Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patientsLaura Blasco-Pérez, Ida Paramonov, Jordi Leno, et al.Human Mutation|January 27, 2021
Severe congenital lactic acidosis and hypertrophic cardiomyopathy caused by an intronic variant in NDUFB7Sandrina P Correia, Marco F Moedas, Karin Naess, et al.Pageof 583