Long-Read Sequencing Emerging in Medical Genetics

por Mantere, Tuomo, Kersten, Simone, Hoischen, Alexander
Publicado 2019

Cytogenetics Is a Science, Not a Technique! Why Optical Genome Mapping Is So Important to Clinical Genetic Laboratories

por Smith, Adam C., Hoischen, Alexander, Raca, Gordana
Publicado 2023

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

por Acuna-Hidalgo, Rocio, Veltman, Joris A., Hoischen, Alexander
Publicado 2016

Postzygotic mosaicism in cerebral cavernous malformation

por Rath, Matthias, Pagenstecher, Axel, Hoischen, Alexander, Felbor, Ute
Publicado 2020

Solving the unsolved rare diseases in Europe

por Graessner, Holm, Zurek, Birte, Hoischen, Alexander, Beltran, Sergi
Publicado 2021

Unlocking Mendelian disease using exome sequencing

por Gilissen, Christian, Hoischen, Alexander, Brunner, Han G, Veltman, Joris A
Publicado 2011

Next-Generation Sequencing in the Field of Primary Immunodeficiencies: Current Yield, Challenges, and Future Perspectives

por Vorsteveld, Emil E., Hoischen, Alexander, van der Made, Caspar I.
Publicado 2021

Shotgun metagenomic data reveals significant abundance but low diversity of “Candidatus Scalindua” marine anammox bacteria in the Arabian Sea oxygen minimum zone

por Villanueva, Laura, Speth, Daan R., van Alen, Theo, Hoischen, Alexander, Jetten, Mike S. M.
Publicado 2014

Clinical implications of host genetic variation and susceptibility to severe or critical COVID-19

por van der Made, Caspar I., Netea, Mihai G., van der Veerdonk, Frank L., Hoischen, Alexander
Publicado 2022

Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing

por Chen, Xiao, Harting, John, Farrow, Emily, Thiffault, Isabelle, Kasperaviciute, Dalia, Hoischen, Alexander, Gilissen, Christian, Pastinen, Tomi, Eberle, Michael A.
Publicado 2023

Quantification of differential gene expression by multiplexed targeted resequencing of cDNA

por Arts, Peer, van der Raadt, Jori, van Gestel, Sebastianus H.C., Steehouwer, Marloes, Shendure, Jay, Hoischen, Alexander, Albers, Cornelis A.
Publicado 2017

Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment

por Chen, Xiaowei Sylvia, Reader, Rose H., Hoischen, Alexander, Veltman, Joris A., Simpson, Nuala H., Francks, Clyde, Newbury, Dianne F., Fisher, Simon E.
Publicado 2017

Circulating interleukin-37 declines with aging in healthy humans: relations to healthspan indicators and IL37 gene SNPs

por Brunt, Vienna E., Ikoba, Akpevweoghene P., Ziemba, Brian P., Ballak, Dov B., Hoischen, Alexander, Dinarello, Charles A., Ehringer, Marissa A., Seals, Douglas R.
Publicado 2022

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

por Yaldiz, Burcu, Kucuk, Erdi, Hampstead, Juliet, Hofste, Tom, Pfundt, Rolph, Corominas Galbany, Jordi, Rinne, Tuula, Yntema, Helger G., Hoischen, Alexander, Nelen, Marcel, Gilissen, Christian
Publicado 2023

A novel marine nitrite-oxidizing Nitrospira species from Dutch coastal North Sea water

por Haaijer, Suzanne C. M., Ji, Ke, van Niftrik, Laura, Hoischen, Alexander, Speth, Daan, Jetten, Mike S. M., Damsté, Jaap S. Sinninghe, Op den Camp, Huub J. M.
Publicado 2013

Progressive multifocal leukoencephalopathy in an immunocompetent patient

por van der Kolk, Nicolien M., Arts, Peer, van Uden, Ingeborg W. M., Hoischen, Alexander, van de Veerdonk, Frank L., Netea, Mihai G., de Jong, Brigit A.
Publicado 2016

Clonal Hematopoiesis of Indeterminate Potential From a Heart Failure Specialist's Point of View

por Sikking, Maurits A., Stroeks, Sophie L. V. M., Waring, Olivia J., Henkens, Michiel T. H. M., Riksen, Niels P., Hoischen, Alexander, Heymans, Stephane R. B., Verdonschot, Job A. J.
Publicado 2023

Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation

por Steyaert, Wouter, Haer-Wigman, Lonneke, Pfundt, Rolph, Hellebrekers, Debby, Steehouwer, Marloes, Hampstead, Juliet, de Boer, Elke, Stegmann, Alexander, Yntema, Helger, Kamsteeg, Erik-Jan, Brunner, Han, Hoischen, Alexander, Gilissen, Christian
Publicado 2023

Novel PI3Kγ Mutation in a 44-Year-Old Man with Chronic Infections and Chronic Pelvic Pain

por Bojarski, Emeric F., Strauss, Adam C., Fagin, Adam P., Plantinga, Theo S., Hoischen, Alexander, Veltman, Joris, Allsop, Stephen A., Granadillo, Victor J. Anciano, William, Arsani, Netea, Mihai G., Dimitrakoff, Jordan
Publicado 2013

SUsPECT: a pipeline for variant effect prediction based on custom long-read transcriptomes for improved clinical variant annotation

por Salz, Renee, Saraiva-Agostinho, Nuno, Vorsteveld, Emil, van der Made, Caspar I., Kersten, Simone, Stemerdink, Merel, Allen, Jamie, Volders, Pieter-Jan, Hunt, Sarah E., Hoischen, Alexander, ’t Hoen, Peter A.C.
Publicado 2023