Martin Jakob Larsen
Overview
Explore the profile of Martin Jakob Larsen including associated specialties, affiliations and a list of published articles.
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Snapshot
Articles
18
Citations
280
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0
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Recent Articles
1.
Baekgaard C, Lester E, Moller-Larsen S, Lauridsen M, Larsen M
Ann Hum Genet
. 2024 May;
88(5):392-398.
PMID: 38690755
Introduction: Long-read whole genome sequencing like Oxford Nanopore Technology, is increasingly being introduced in clinical settings. With its ability to simultaneously call sequence variation and DNA modifications including 5-methylcytosine, nanopore...
2.
Miceikaite I, Fagerberg C, Brasch-Andersen C, Torring P, Kristiansen B, Hao Q, et al.
Prenat Diagn
. 2023 Jun;
43(9):1132-1141.
PMID: 37355983
Objective: This study aimed to assess the diagnostic yield of prenatal genetic testing using trio whole exome sequencing (WES) and trio whole genome sequencing (WGS) in pregnancies with fetal anomalies...
3.
Lester E, Larsen M, Laulund L, Illum N, Dunkhase-Heinl U, Schroder H, et al.
Eur J Med Genet
. 2023 Jan;
66(3):104706.
PMID: 36669590
Disease causing variants in the Ryanodine receptor 1 (RYR1) gene are a common cause for congenital myopathy and for malignant hyperthermia susceptibility. We report a 17 year old boy with...
4.
Dembic M, van Brakel Andersen L, Larsen M, Mechlenburg I, Soballe K, Hertz J
Mol Genet Genomics
. 2022 Dec;
298(2):329-342.
PMID: 36454308
Developmental dysplasia of the hip (DDH) is a common condition involving instability of the hip with multifactorial etiology. Early diagnosis and treatment are critical as undetected DDH is an important...
5.
Tan M, Brusgaard K, Gerdes A, Larsen M, Mortensen M, Detlefsen S, et al.
Ann Hum Genet
. 2022 Mar;
86(4):195-206.
PMID: 35312039
No abstract available.
6.
Miceikaite I, Bak G, Larsen M, Kristiansen B, Torring P
Clin Case Rep
. 2021 Jul;
9(7):e04507.
PMID: 34306696
We describe two clinical prenatal cases with rare de novo RIT1 variants, which showed more severe clinical manifestations than other Noonan Syndrome genotypes, resulting in fetal death. Extra attention is...
7.
Miceikaite I, Brasch-Andersen C, Fagerberg C, Larsen M
Mol Genet Genomic Med
. 2021 Mar;
9(4):e1653.
PMID: 33687149
Background: Sufficient fetal fraction (FF) is crucial for quality control of NIPT (Non-Invasive Prenatal Test) results. Different factors influencing bioinformatic estimation of FF should be considered when implementing NIPT. To...
8.
Torring P, Larsen M, Brasch-Andersen C, Krogh L, Kibaek M, Laulund L, et al.
Eur J Med Genet
. 2018 Jul;
62(2):129-136.
PMID: 29959045
Introduction: MED13L-related intellectual disability is characterized by moderate intellectual disability (ID), speech impairment, and dysmorphic facial features. We present 8 patients with MED13L-related intellectual disability and review the literature for...
9.
Kroigard A, Larsen M, Laenkholm A, Knoop A, Jensen J, Bak M, et al.
PLoS One
. 2018 Jan;
13(1):e0189887.
PMID: 29293529
Cancer results from alterations at essential genomic sites and is characterized by uncontrolled cell proliferation, invasion and metastasis. Identification of driver genes of metastatic progression is essential, as metastases, not...
10.
Kroigard A, Larsen M, Brasch-Andersen C, Laenkholm A, Knoop A, Jensen J, et al.
Sci Rep
. 2017 Mar;
7:43813.
PMID: 28276460
A main controversy in cancer research is whether metastatic abilities are present in the most advanced clone of the primary tumor or result from independently acquired aberrations in early disseminated...