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Human Mutation|September 1, 2022
A survey of current methods to detect and genotype inversionsVincent C T Hanlon, Peter M Lansdorp, Victor Guryev
Human Mutation|September 1, 2022
Phasing of de novo mutations using a scaled-up multiple amplicon long-read sequencing approachGiles S Holt, Lois E Batty, Bilal K S Alobaidi, et al.
Human Mutation|March 6, 2021
Comprehensive characterization of Alu-mediated breakpoints in germline VHL gene deletions and rearrangements in patients from 71 VHL familiesCathy D Vocke, Christopher J Ricketts, Laura S Schmidt, et al.
Human Mutation|September 30, 2022
Exome sequencing unravels genetic variants associated with chronic kidney disease in Saudi Arabian patientsMohamed H Al-Hamed, Maged H Hussein, Yaser Shah, et al.
Human Mutation|January 6, 2022
Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiencyMarcello Scala, Saskia B Wortmann, Namik Kaya, et al.
Human Mutation|January 10, 2022
Targeted next-generation sequencing in a large series of fetuses with severe renal diseasesPenelope Jordan, Guillaume Dorval, Christelle Arrondel, et al.
Human Mutation|January 10, 2022
Molecular characterization of a large cohort of mucopolysaccharidosis patients: Iran Mucopolysaccharidosis RE-diagnosis study (IMPRESsion)Saeed R Ghaffari, Maryam Rafati, Mahdi Shadnoush, et al.
Human Mutation|May 5, 2011
Characterization of copy number-stable regions in the human genomeAnna C V Johansson, Lars Feuk
Human Mutation|May 5, 2011
ACTN3 genotype, athletic status, and life course physical capability: meta-analysis of the published literature and findings from nine studiesTamuno Alfred, Yoav Ben-Shlomo, Rachel Cooper, et al.
Human Mutation|May 5, 2011
A leaky splicing mutation affecting SMN1 exon 7 inclusion explains an unexpected mild case of spinal muscular atrophyMyriam Vezain, Bénédicte Gérard, Séverine Drunat, et al.
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