Malin Melin

The FOCU.SE trial: a nationwide Swedish drug repurposing protocol and research framework

Abel, Edvard; Ostling, Paivi; Hult, Ebba Hallersjo; Kulbacka, Katarzyna et al.

Ingår i Acta Oncologica, s. 268-272, 2026

• DOI för The FOCU.SE trial: a nationwide Swedish drug repurposing protocol and research framework
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Visualization using NIPTviewer support the clinical interpretation of noninvasive prenatal testing results

Smeds, Patrik; Baranowska Körberg, Izabella; Melin, Malin; Ladenvall, Claes

Ingår i BMC Medical Genomics, 2025

• DOI för Visualization using NIPTviewer support the clinical interpretation of noninvasive prenatal testing results
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A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities

Eisfeldt, Jesper; Ameur, Adam; Lenner, Felix; Ten Berk de Boer, Esmee et al.

Ingår i Genome Research, s. 1774-1784, 2024

• DOI för A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities

Visualization and analysis of medically relevant tandem repeats in nanopore sequencing of control cohorts with pathSTR

De Coster, Wouter; Höijer, Ida; Bruggeman, Inge; D'Hert, Svenn et al.

Ingår i Genome Research, s. 2074-2080, 2024

• DOI för Visualization and analysis of medically relevant tandem repeats in nanopore sequencing of control cohorts with pathSTR
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PIK3CA is recurrently mutated in canine mammary tumors, similarly to in human mammary neoplasia

Arendt, Maja Louise; Sakthikumar, Sharadha; Melin, Malin; Elvers, Ingegerd et al.

Ingår i Scientific Reports, 2023

• DOI för PIK3CA is recurrently mutated in canine mammary tumors, similarly to in human mammary neoplasia
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The FOCU.SE trial: a nationwide Swedish drug repurposing protocol and research framework

Abel, Edvard; Ostling, Paivi; Hult, Ebba Hallersjo; Kulbacka, Katarzyna et al.

Ingår i Acta Oncologica, s. 268-272, 2026

• DOI för The FOCU.SE trial: a nationwide Swedish drug repurposing protocol and research framework
• Ladda ner fulltext (pdf) av The FOCU.SE trial: a nationwide Swedish drug repurposing protocol and research framework

Visualization using NIPTviewer support the clinical interpretation of noninvasive prenatal testing results

Smeds, Patrik; Baranowska Körberg, Izabella; Melin, Malin; Ladenvall, Claes

Ingår i BMC Medical Genomics, 2025

• DOI för Visualization using NIPTviewer support the clinical interpretation of noninvasive prenatal testing results
• Ladda ner fulltext (pdf) av Visualization using NIPTviewer support the clinical interpretation of noninvasive prenatal testing results

A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities

Eisfeldt, Jesper; Ameur, Adam; Lenner, Felix; Ten Berk de Boer, Esmee et al.

Ingår i Genome Research, s. 1774-1784, 2024

• DOI för A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities

Visualization and analysis of medically relevant tandem repeats in nanopore sequencing of control cohorts with pathSTR

De Coster, Wouter; Höijer, Ida; Bruggeman, Inge; D'Hert, Svenn et al.

Ingår i Genome Research, s. 2074-2080, 2024

• DOI för Visualization and analysis of medically relevant tandem repeats in nanopore sequencing of control cohorts with pathSTR
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PIK3CA is recurrently mutated in canine mammary tumors, similarly to in human mammary neoplasia

Arendt, Maja Louise; Sakthikumar, Sharadha; Melin, Malin; Elvers, Ingegerd et al.

Ingår i Scientific Reports, 2023

• DOI för PIK3CA is recurrently mutated in canine mammary tumors, similarly to in human mammary neoplasia
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Implementing precision medicine in a regionally organized healthcare system in Sweden.

Fioretos, Thoas; Wirta, Valtteri; Cavelier, Lucia; Berglund, Eva et al.

Ingår i Nature Medicine, s. 1980-1982, 2022

• DOI för Implementing precision medicine in a regionally organized healthcare system in Sweden.

A progressive and complex clinical course in two family members with ERF-related craniosynostosis: a case report

Baranowska Körberg, Izabella; Nowinski, Daniel; Bondeson, Marie-Louise; Melin, Malin et al.

Ingår i BMC Medical Genetics, 2020

• DOI för A progressive and complex clinical course in two family members with ERF-related craniosynostosis: a case report
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Targeted sequencing reveals the somatic mutation landscape in a Swedish breast cancer cohort

Mathioudaki, Argyri; Ljungström, Viktor; Melin, Malin; Arendt, Maja Louise et al.

Ingår i Scientific Reports, 2020

• DOI för Targeted sequencing reveals the somatic mutation landscape in a Swedish breast cancer cohort
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A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4: Review of the literature

Gudmundsson, Sanna; Annerén, Göran; Marcos-Alcalde, Íñigo; Wilbe, Maria et al.

Ingår i European Journal of Medical Genetics, 2019

• DOI för A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4: Review of the literature

A synonymous germline variant in a gene encoding a cell adhesion molecule is associated with cutaneous mast cell tumour development in Labrador and Golden Retrievers

Biasoli, Deborah; Compston-Garnett, Lara; Ricketts, Sally L.; Birand, Zeynep et al.

Ingår i PLOS Genetics, 2019

• DOI för A synonymous germline variant in a gene encoding a cell adhesion molecule is associated with cutaneous mast cell tumour development in Labrador and Golden Retrievers
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Genome-Wide Analysis Identifies Germ-Line Risk Factors Associated with Canine Mammary Tumours

Melin, Malin; Rivera, Patricio; Arendt, Maja; Elvers, Ingegerd et al.

Ingår i PLOS Genetics, 2016

• DOI för Genome-Wide Analysis Identifies Germ-Line Risk Factors Associated with Canine Mammary Tumours
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Genome-Wide Association Study of Golden Retrievers Identifies Germ-Line Risk Factors Predisposing to Mast Cell Tumours

Arendt, Maja Louise; Melin, Malin; Tonomura, Noriko; Koltookian, Michele et al.

Ingår i PLOS Genetics, 2015

• DOI för Genome-Wide Association Study of Golden Retrievers Identifies Germ-Line Risk Factors Predisposing to Mast Cell Tumours
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The ESR1 gene is associated with risk for canine mammary tumours

Borge, Kaja Sverdrup; Melin, Malin; Rivera, Patricio; Thoresen, Stein Istre et al.

Ingår i BMC Veterinary Research, s. 69, 2013

• DOI för The ESR1 gene is associated with risk for canine mammary tumours
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HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)

Klein, Christoph; Grudzien, Magda; Appaswamy, Giridharan; Germeshausen, Manuela et al.

Ingår i Nature Genetics, s. 86-92, 2007

• DOI för HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)

Assignment of the gene locus for severe congenital neutropenia to chromosome 1q22 in the original Kostmann family from Northern Sweden

Melin, Malin; Entesarian, Miriam; Carlsson, G.; Garwicz, Daniel et al.

Ingår i Biochemical and Biophysical Research Communications - BBRC, s. 571-575, 2007

• DOI för Assignment of the gene locus for severe congenital neutropenia to chromosome 1q22 in the original Kostmann family from Northern Sweden

Constitutional downregulation of SEMA5A expression in autism

Melin, Malin; Carlsson, B.; Anckarsäter, H.; Råstam, M. et al.

Ingår i Neuropsychobiology, s. 64-69, 2006

• DOI för Constitutional downregulation of SEMA5A expression in autism

Adult-onset autosomal dominant leukodystrophy with autonomic symptoms restricted to 1.5 Mbp on chromosome 5q23

Marklund, Lena; Melin, Malin; Melberg, Atle; Giedraitis, Vilmantas et al.

Ingår i American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, s. 608-614, 2006

• DOI för Adult-onset autosomal dominant leukodystrophy with autonomic symptoms restricted to 1.5 Mbp on chromosome 5q23

Kostmann syndrome or infantile genetic agranulocytosis, part two: Understanding the underlying genetic defects in severe congenital neutropenia

Carlsson, Göran; Melin, Malin; Dahl, Niklas; Ramme, Kim Göransdotter et al.

Ingår i Acta Paediatrica, s. 813-819, 2007

• DOI för Kostmann syndrome or infantile genetic agranulocytosis, part two: Understanding the underlying genetic defects in severe congenital neutropenia