Hum. Mutat.

ISSN	1098-1004
ISSN-L	1059-7794
IUID	a28aa1a52fd7401f8c28be302b5eeb6d
Modified	2020-11-27T13:12:52.586Z
Created	2018-12-05T08:57:51.555Z

Year 2024

PubMed DOI Crossref

Novel Synonymous and Deep Intronic Variants Causing Primary and Secondary Pyruvate Dehydrogenase Complex Deficiency.

Bruhn H, Naess K, Ygberg S, ..., Wedell A, Wredenberg A

Hum. Mutat. 2024 (-) 1611838 [2024-03-25; online 2024-03-25]

Year 2023

PubMed DOI Crossref

The Broad Spectrum of TP53 Mutations in CLL: Evidence of Multiclonality and Novel Mutation Hotspots.

Lazarian G, Leroy B, Theves F, ..., Soussi T, French Innovative Leukemia Organization (FILO)

Hum. Mutat. 2023 (-) 4880113 [2023-05-09; online 2023-05-09]

Year 2022

PubMed DOI Crossref

Multi-omics analysis reveals multiple mechanisms causing Prader-Willi like syndrome in a family with a X;15 translocation.

Eisfeldt J, Rezayee F, Pettersson M, ..., Grigelioniene G, Lindstrand A

Hum. Mutat. 43 (11) 1567-1575 [2022-11-00; online 2022-07-23]

PubMed DOI Crossref

PatientMatcher: A customizable Python-based open-source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network.

Rasi C, Nilsson D, Magnusson M, ..., Wirta V, Stranneheim H

Hum. Mutat. 43 (6) 708-716 [2022-06-00; online 2022-03-07]

Year 2021

PubMed DOI Crossref

Severe congenital lactic acidosis and hypertrophic cardiomyopathy caused by an intronic variant in NDUFB7.

Correia SP, Moedas MF, Naess K, ..., Wedell A, Wredenberg A

Hum. Mutat. 42 (4) 378-384 [2021-04-00; online 2021-02-04]

Year 2020

PubMed DOI Crossref

Cytogenetically visible inversions are formed by multiple molecular mechanisms.

Pettersson M, Grochowski CM, Wincent J, ..., Carvalho CMB, Lindstrand A

Hum. Mutat. 41 (11) 1979-1998 [2020-11-00; online 2020-10-01]

PubMed DOI Crossref

Xdrop: Targeted sequencing of long DNA molecules from low input samples using droplet sorting.

Madsen EB, Höijer I, Kvist T, Ameur A, Mikkelsen MJ

Hum. Mutat. 41 (9) 1671-1679 [2020-09-00; online 2020-06-29]

Year 2019

PubMed DOI Crossref

Primary microcephaly, primordial dwarfism, and brachydactyly in adult cases with biallelic skipping of RTTN exon 42.

Zakaria M, Fatima A, Klar J, ..., Baig SM, Dahl N

Hum. Mutat. 40 (7) 899-903 [2019-07-00; online 2019-05-24]

Year 2018

PubMed DOI Crossref

Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias.

Pettersson M, Vaz R, Hammarsjö A, ..., Grigelioniene G, Lindstrand A

Hum. Mutat. 39 (10) 1456-1467 [2018-10-00; online 2018-08-22]

PubMed DOI Crossref

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]

PubMed DOI Crossref

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]

PubMed DOI Crossref

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

PubMed DOI Crossref

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]

PubMed DOI Crossref

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]

Abhishek Niroula DDLS Fellow

PubMed DOI Crossref

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]

Abhishek Niroula DDLS Fellow

PubMed DOI Crossref

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]

Abhishek Niroula DDLS Fellow

PubMed DOI Crossref

Predicting Severity of Disease-Causing Variants.

Niroula A, Vihinen M

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

Abhishek Niroula DDLS Fellow

PubMed DOI Crossref

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

PubMed DOI Crossref

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]

PubMed DOI Crossref

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]

PubMed DOI Crossref

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]

PubMed DOI Crossref

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]

Abhishek Niroula DDLS Fellow

Year 2015

PubMed DOI Crossref

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]

Abhishek Niroula DDLS Fellow

PubMed DOI Crossref

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]

PubMed DOI Crossref

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

PubMed DOI Crossref

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]