Hum. Mutat.

Germline variation in the oxidative DNA repair genes NUDT1 and OGG1 is not associated with hereditary colorectal cancer or polyposis.

Mur P, Jemth AS, Bevc L, ..., Helleday T, Valle L

Hum. Mutat. 39 (9) 1214-1225 [2018-09-00; online 2018-07-04]

Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencing.

Höijer I, Tsai YC, Clark TA, ..., Gyllensten U, Ameur A

Hum. Mutat. 39 (9) 1262-1272 [2018-09-00; online 2018-07-12]

Targeted copy number screening highlights an intragenic deletion of WDR63 as the likely cause of human occipital encephalocele and abnormal CNS development in zebrafish.

Hofmeister W, Pettersson M, Kurtoglu D, ..., Gustavsson P, Lindstrand A

Hum. Mutat. 39 (4) 495-505 [2018-04-00; online 2018-01-11]

Year 2017

Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function.

Zhao JJ, Halvardson J, Knaus A, ..., Thuresson AC, Feuk L

Hum. Mutat. 38 (10) 1394-1401 [2017-10-00; online 2017-06-12]

Performance of in silico tools for the evaluation of p16INK4a (CDKN2A) variants in CAGI.

Carraro M, Minervini G, Giollo M, ..., Moult J, Tosatto SCE

Hum. Mutat. 38 (9) 1042-1050 [2017-09-00; online 2017-05-16]

Working toward precision medicine: Predicting phenotypes from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges.

Daneshjou R, Wang Y, Bromberg Y, ..., Brenner SE, Morgan AA

Hum. Mutat. 38 (9) 1182-1192 [2017-09-00; online 2017-07-07]

PON-P and PON-P2 predictor performance in CAGI challenges: Lessons learned.

Niroula A, Vihinen M

Hum. Mutat. 38 (9) 1085-1091 [2017-09-00; online 2017-05-02]

Predicting Severity of Disease-Causing Variants.

Niroula A, Vihinen M

Hum. Mutat. 38 (4) 357-364 [2017-04-00; online 2017-01-24]

Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation.

Nilsson D, Pettersson M, Gustavsson P, ..., Carvalho CMB, Lindstrand A

Hum. Mutat. 38 (2) 180-192 [2017-02-00; online 2016-12-05]

Year 2016

Fourth Generation of Next-Generation Sequencing Technologies: Promise and Consequences.

Ke R, Mignardi M, Hauling T, Nilsson M

Hum. Mutat. 37 (12) 1363-1367 [2016-12-00; online 2016-08-10]

A Significant Regulatory Mutation Burden at a High-Affinity Position of the CTCF Motif in Gastrointestinal Cancers.

Umer HM, Cavalli M, Dabrowski MJ, ..., Komorowski J, Wadelius C

Hum. Mutat. 37 (9) 904-913 [2016-09-00; online 2016-06-02]

A Role for the Chromatin-Remodeling Factor BAZ1A in Neurodevelopment.

Zaghlool A, Halvardson J, Zhao JJ, ..., Thuresson AC, Feuk L

Hum. Mutat. 37 (9) 964-975 [2016-09-00; online 2016-07-08]

Variation Interpretation Predictors: Principles, Types, Performance, and Choice.

Niroula A, Vihinen M

Hum. Mutat. 37 (6) 579-597 [2016-06-00; online 2016-04-15]

Year 2015

Classification of Amino Acid Substitutions in Mismatch Repair Proteins Using PON-MMR2.

Niroula A, Vihinen M

Hum. Mutat. 36 (12) 1128-1134 [2015-12-00; online 2015-09-22]

Concurrent DNA Copy-Number Alterations and Mutations in Genes Related to Maintenance of Genome Stability in Uninvolved Mammary Glandular Tissue from Breast Cancer Patients.

Ronowicz A, Janaszak-Jasiecka A, Skokowski J, ..., Dumanski JP, Piotrowski A

Hum. Mutat. 36 (11) 1088-1099 [2015-11-00; online 2015-08-14]

The mutational landscape in pediatric acute lymphoblastic leukemia deciphered by whole genome sequencing.

Lindqvist CM, Nordlund J, Ekman D, ..., Syvänen AC, Berglund EC

Hum. Mutat. 36 (1) 118-128 [2015-01-00; online 2014-10-31]

Year 2013

Welander distal myopathy caused by an ancient founder mutation in TIA1 associated with perturbed splicing.

Klar J, Sobol M, Melberg A, ..., Casar-Borota O, Dahl N

Hum. Mutat. 34 (4) 572-577 [2013-04-00; online 2013-01-26]