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Cover, Volume 43, Issue 2.
- Published in:
- Human Mutation, 2022, v. 43, n. 2, p. i, doi. 10.1002/humu.24334
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- Article
Issue Information.
- Published in:
- Human Mutation, 2022, v. 43, n. 2, p. 101, doi. 10.1002/humu.24224
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- Article
Pseudoexon activation in disease by non‐splice site deep intronic sequence variation — wild type pseudoexons constitute high‐risk sites in the human genome.
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- Human Mutation, 2022, v. 43, n. 2, p. 103, doi. 10.1002/humu.24306
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NR2F1 database: 112 variants and 84 patients support refining the clinical synopsis of Bosch–Boonstra–Schaaf optic atrophy syndrome.
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- Human Mutation, 2022, v. 43, n. 2, p. 128, doi. 10.1002/humu.24305
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Novel PHEX gene locus‐specific database: Comprehensive characterization of vast number of variants associated with X‐linked hypophosphatemia (XLH).
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- Human Mutation, 2022, v. 43, n. 2, p. 143, doi. 10.1002/humu.24296
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ROHMM—A flexible hidden Markov model framework to detect runs of homozygosity from genotyping data.
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- Human Mutation, 2022, v. 43, n. 2, p. 158, doi. 10.1002/humu.24316
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Imaging‐based evaluation of pathogenicity by novel DNM2 variants associated with centronuclear myopathy.
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- Human Mutation, 2022, v. 43, n. 2, p. 169, doi. 10.1002/humu.24307
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A novel gene mutation in ZP3 loop region identified in patients with empty follicle syndrome.
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- Human Mutation, 2022, v. 43, n. 2, p. 180, doi. 10.1002/humu.24297
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Long‐read whole genome sequencing reveals HOXD13 alterations in synpolydactyly.
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- Human Mutation, 2022, v. 43, n. 2, p. 189, doi. 10.1002/humu.24304
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The enhancer rare germline variation rs548071605 contributes to lung cancer development.
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- Human Mutation, 2022, v. 43, n. 2, p. 200, doi. 10.1002/humu.24310
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Unraveling the molecular basis underlying nine putative splice site variants of von Willebrand factor.
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- Human Mutation, 2022, v. 43, n. 2, p. 215, doi. 10.1002/humu.24312
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Functionally deficient TRPV6 variants contribute to hereditary and familial chronic pancreatitis.
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- Human Mutation, 2022, v. 43, n. 2, p. 228, doi. 10.1002/humu.24315
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EFEMP1 rare variants cause familial juvenile‐onset open‐angle glaucoma.
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- Human Mutation, 2022, v. 43, n. 2, p. 240, doi. 10.1002/humu.24320
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Vulnerable exons, like ACADM exon 5, are highly dependent on maintaining a correct balance between splicing enhancers and silencers.
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- Human Mutation, 2022, v. 43, n. 2, p. 253, doi. 10.1002/humu.24321
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The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder.
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- Human Mutation, 2022, v. 43, n. 2, p. 266, doi. 10.1002/humu.24308
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- Article