Whole-Exome Sequencing in 22 Young Ischemic Stroke Patients With Familial Clustering of Stroke

A stroke gene panel for whole-exome sequencing

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Genotype-phenotype correlations in pathology caused by collagen type IV alpha 1 and 2 mutations

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COL4A2 is associated with lacunar ischemic stroke and deep ICH

(2017) Kristiina Rannikmäe et al.   NEUROLOGY

Coexistence of gain-of-function JAK2 germ line mutations with JAK2V617F in polycythemia vera

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Cooperation of germ line JAK2 mutations E846D and R1063H in hereditary erythrocytosis with megakaryocytic atypia

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Discovery and pharmacological effects of a novel GPR142 antagonist

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Analysis of protein-coding genetic variation in 60,706 humans

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Familial aggregation of stroke amongst young patients in Lund Stroke Register

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The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature

(2015) Marije E. C. Meuwissen et al.   GENETICS IN MEDICINE

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

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A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Common variation in COL4A1/COL4A2 is associated with sporadic cerebral small vessel disease

(2015) K. Rannikmae et al.   NEUROLOGY

ClinVar: public archive of interpretations of clinically relevant variants

(2015) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

Genetic Overlap Between Diagnostic Subtypes of Ischemic Stroke: Table.

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Embolic strokes of undetermined source: the case for a new clinical construct

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Multiplicity of Risk Factors in Ischemic Stroke Patients: Relations to Age, Sex, and Subtype - A Study of 2,505 Patients from the Lund Stroke Register

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Hypothalamic programming of systemic ageing involving IKK-β, NF-κB and GnRH

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Deficiency of Innate and Acquired Immunity Caused by an IKBKB Mutation

(2013) Ulrich Pannicke et al.   NEW ENGLAND JOURNAL OF MEDICINE

GermlineJAK2Mutation in a Family with Hereditary Thrombocytosis

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COL4A2 Mutations Impair COL4A1 and COL4A2 Secretion and Cause Hemorrhagic Stroke

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The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

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Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

(2010) Tobias B Haack et al.   NATURE GENETICS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

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Finding the missing heritability of complex diseases

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The impact of JAK2 and MPL mutations on diagnosis and prognosis of splanchnic vein thrombosis: a report on 241 cases

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