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Alexander Hoischen

Alexander Hoischen

D-Index & Metrics

Genetics

D-Index
87
Citations
27045
World Ranking
1211
National Ranking
44

Overview

Alexander Hoischen is affiliated with Radboud University in the Netherlands and has contributed extensively to the fields of biochemistry, genetics, and molecular biology, with a significant focus on medicine. Their research spans various subfields, including genetics, molecular biology, immunology, cancer research, and plant science.

Their main topics of work include:

  • Genomics and Rare Diseases
  • Genomic variations and chromosomal abnormalities
  • Cancer Genomics and Diagnostics
  • RNA modifications and cancer
  • Immunodeficiency and Autoimmune Disorders
  • Chromosomal and Genetic Variations
  • Genomics and Phylogenetic Studies

Recent publications by Alexander Hoischen highlight research on a variety of topics. Selected papers include:

  • "Presence of Genetic Variants Among Young Men With Severe COVID-19," 2020, published in JAMA
  • "Optical genome mapping enables constitutional chromosomal aberration detection," 2021, published in The American Journal of Human Genetics
  • "Adult-onset autoinflammation caused by somatic mutations in UBA1: A Dutch case series of patients with VEXAS," 2021, published in the Journal of Allergy and Clinical Immunology
  • "Next-generation cytogenetics: Comprehensive assessment of 52 hematological malignancy genomes by optical genome mapping," 2021, published in The American Journal of Human Genetics
  • "Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics," 2020, published in Genetics in Medicine

Frequent co-authors collaborating with Alexander Hoischen include:

  • Christian Gilissen
  • Lisenka E.L.M. Vissers
  • Mihai G. Netea
  • Caspar I. van der Made
  • Kornelia Neveling

Alexander Hoischen has published numerous articles in prominent venues, with the largest number appearing in:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • European Journal of Human Genetics
  • The American Journal of Human Genetics
  • Genetics in Medicine
  • iScience

Best Publications

  • Diagnostic Exome Sequencing in Persons With Severe Intellectual Disability

    Joep de Ligt;Marjolein H. Willemsen;Bregje W. M. van Bon;Tjitske Kleefstra

  • Genome sequencing identifies major causes of severe intellectual disability

    Christian Gilissen;Jayne Y. Hehir-Kwa;Djie Tjwan Thung;Maartje van de Vorst

  • A de novo paradigm for mental retardation.

    Lisenka E L M Vissers;Joep de Ligt;Christian Gilissen;Irene Janssen

  • Presence of Genetic Variants Among Young Men With Severe COVID-19.

    Caspar I. van der Made;Annet Simons;Janneke Schuurs-Hoeijmakers;Guus van den Heuvel

  • Refining analyses of copy number variation identifies specific genes associated with developmental delay

    Bradley P. Coe;Kali Witherspoon;Jill A. Rosenfeld;Bregje W M Van Bon;Bregje W M Van Bon

  • STAT1 Mutations in Autosomal Dominant Chronic Mucocutaneous Candidiasis

    Frank L. van de Veerdonk;Theo S. Plantinga;Alexander Hoischen;Sanne P. Smeekens

  • De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

    Alexander Hoischen;Bregje W M van Bon;Christian Gilissen;Peer Arts

  • Disease gene identification strategies for exome sequencing

    Christian Gilissen;Alexander Hoischen;Han G Brunner;Joris A Veltman

  • New insights into the generation and role of de novo mutations in health and disease.

    Rocio Acuna-Hidalgo;Joris A. Veltman;Joris A. Veltman;Alexander Hoischen

  • An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

    Catherine A. Brownstein;Alan H. Beggs;Nils Homer;Barry Merriman

  • Long-Read Sequencing Emerging in Medical Genetics

    Tuomo Mantere;Simone Kersten;Alexander Hoischen

  • Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta

    Jutta Becker;Oliver Semler;Christian Gilissen;Yun Li

  • A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer

    Robbert D A Weren;Marjolijn J L Ligtenberg;C Marleen Kets;Richarda M de Voer

  • Unlocking Mendelian disease using exome sequencing

    Christian Gilissen;Alexander Hoischen;Han G Brunner;Joris A Veltman

  • Human TLR10 is an anti-inflammatory pattern-recognition receptor

    Marije Oosting;Shih-Chin Cheng;Judith M. Bolscher;Rachel Vestering-Stenger

  • Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome

    Christian Gilissen;Heleen H. Arts;Alexander Hoischen;Liesbeth Spruijt

  • Next-generation genetic testing for retinitis pigmentosa.

    Kornelia Neveling;Rob W.J. Collin;Christian Gilissen;Ramon A.C. van Huet

  • Parent-of-origin-specific signatures of de novo mutations

    Jakob M Goldmann;Wendy S W Wong;Michele Pinelli;Terry Farrah

  • De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

    Alexander Hoischen;Bregje W M van Bon;Benjamín Rodríguez-Santiago;Benjamín Rodríguez-Santiago;Christian Gilissen

  • De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

    Jean-Baptiste Rivière;Bregje W. M. van Bon;Alexander Hoischen;Stanislav S. Kholmanskikh

Frequent Co-Authors

Joris A. Veltman
Joris A. Veltman University of Edinburgh
Christian Gilissen
Christian Gilissen Radboud University
Han G. Brunner
Han G. Brunner Radboud University
Bregje W.M. van Bon
Bregje W.M. van Bon Radboud University
Mihai G. Netea
Mihai G. Netea Radboud University
Lisenka E.L.M. Vissers
Lisenka E.L.M. Vissers Radboud University
Evan E. Eichler
Evan E. Eichler University of Washington
Leo A. B. Joosten
Leo A. B. Joosten Radboud University
Eva Morava
Eva Morava Mayo Clinic
Tjitske Kleefstra
Tjitske Kleefstra Erasmus University Rotterdam

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