Genome-wide Association Study in a High-Risk Isolate for Multiple Sclerosis Reveals Associated Variants in STAT3 Gene

Eveliina Jakkula, Virpi Leppä, Anna-Maija Sulonen, +26

The American Journal of Human Genetics

Genome-wide Association StudyDisease SusceptibilityMedicineGeneticsGenetic Epidemiology +9

Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies

Nathan L. Absalom, Vivian W. Y. Liao, Katrine M. Johannesen, +14

Nature Communications

A rare variant of the TYK2 gene is confirmed to be associated with multiple sclerosis

Inger‐Lise Mero, Åslaug Rudjord Lorentzen, Maria Ban, +19

European Journal of Human Genetics

Rare DiseasesAutoimmune DiseaseNeurological DisorderMedicineGenetic Disorder +10

Killer immunoglobulin‐like receptor ligand HLA‐Bw4 protects against multiple sclerosis

Åslaug Rudjord Lorentzen, Tom H. Karlsen, Marita Olsson, +10

Annals of Neurology

Oligoclonal Band Status in Scandinavian Multiple Sclerosis Patients Is Associated with Specific Genetic Risk Alleles

Inger‐Lise Mero, Marte W. Gustavsen, Hanne Skarpodde Sæther, +19

PLoS ONE

No evidence of association between mutant alleles of the <i>CYP27B1</i> gene and multiple sclerosis

Maria Ban, Stacy J. Caillier, Inger‐Lise Mero, +9

Annals of Neurology

A gene pathway analysis highlights the role of cellular adhesion molecules in multiple sclerosis susceptibility

Vincent Damotte, Léna Guillot‐Noël, Nikolaos A. Patsopoulos, +134

Genes and Immunity

Cellular Adhesion MoleculesAutoimmune DiseaseGene Pathway AnalysisMedicineCell Adhesion +8

Phenotypic expansion of the <scp><i>BPTF</i></scp>‐related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

Kevin E. Glinton, Anna Hurst, Kevin M. Bowling, +44

American Journal of Medical Genetics Part A

Brain DevelopmentGeneticsMotor DevelopmentGenetic EpidemiologyEpigenetics +20

Association to the Glypican-5 gene in multiple sclerosis

Åslaug Rudjord Lorentzen, Espen Melum, Eva Ellinghaus, +9

Journal of Neuroimmunology

Neurological DisorderNeurologyMultiple SclerosisMedicineNeurogenetics

Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis

Elin Tønne, Bernt Johan Due‐Tønnessen, Inger‐Lise Mero, +9

European Journal of Human Genetics