Janneke M Weiss (Marjan M Weiss, Marjan Weiss)

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 7

Top Topics

Circulating Tumor Cells

Congenital Heart Disease

Aortic Aneurysm

Top Venues

European journal of human genetics : EJHG

Nature communications

Molecular genetics & genomic medicine

This page only lists publications with an associated author ORCID identifier.

Publications

Wouter Steyaert, Lydia Sagath, German Demidov, Vicente A Yépez, Anna Esteve-Codina, Julien Gagneur, Kornelia Ellwanger, Ronny Derks, Janneke M Weiss, Amber den Ouden, Simone van den Heuvel, Hilde Swinkels, Nick Zomer, Marloes Steehouwer, Luke O'Gorman, Galuh Astuti, Kornelia Neveling, Rebecca Schüle, Jishu Xu, Matthis Synofzik, Danique Beijer, Holger Hengel, Ludger Schöls, Kristl G Claeys, Jonathan Baets, Liedewei Van de Vondel, Alessandra Ferlini, Rita Selvatici, Heba Morsy, Marwa Saeed Abd Elmaksoud, Volker Straub, Juliane Müller, Veronica Pini, Luke Perry, Anna Sarkozy, Irina T Zaharieva, Francesco Muntoni, Enrico Bugiardini, Kiran Polavarapu, Rita Horvath, Evan Reid, Hanns Lochmüller, Marco Spinazzi, Marco Savarese, null null, null null, null null, null null, Leslie Matalonga, Steven Laurie, Han G Brunner, Holm Graessner, Sergi Beltran, Stephan Ossowski, Lisenka E L M Vissers, Christian Gilissen, Alexander Hoischen
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing. medRxiv : the preprint server for health sciences (2024)
Lisa S M Hofste, Maartje J Geerlings, Daniel von Rhein, Sofie H Tolmeijer, Janneke M Weiss, Christian Gilissen, Tom Hofste, Linda M Garms, Marcel J R Janssen, Heidi Rütten, Camiel Rosman, Rachel S van der Post, Bastiaan R Klarenbeek, Marjolijn J L Ligtenberg
Circulating Tumor DNA-Based Disease Monitoring of Patients with Locally Advanced Esophageal Cancer. Cancers 14 (18) (2022)
Erika Souche, Sergi Beltran, Erwin Brosens, John W Belmont, Magdalena Fossum, Olaf Riess, Christian Gilissen, Amin Ardeshirdavani, Gunnar Houge, Marielle E van Gijn, Jill Clayton-Smith, Matthis Synofzik, Nicole de Leeuw, Zandra C Deans, Yasemin Dincer, Sebastian H Eck, Saskia van der Crabben, Meena Balasubramanian, Holm Graessner, Marc Sturm, Helen Firth, Alessandra Ferlini, Rima Nabbout, Elfride De Baere, Thomas Liehr, Milan Macek, Gert Matthijs, Hans Scheffer, Peter Bauer, Helger G Yntema, Janneke M Weiss
Recommendations for whole genome sequencing in diagnostics for rare diseases. European journal of human genetics : EJHG 30 (9) (2022)
Karuna R M van der Meij, Qiu Ying F van de Pol, Mirielle N Bekker, Linda Martin, Janneke T Gitsels van der Wal, Elsbeth H van Vliet-Lachotzki, Janneke M Weiss, Robert-Jan H Galjaard, Erik A Sistermans, Merryn V E Macville, Lidewij Henneman, null null
Experiences of pregnant women with genome-wide non-invasive prenatal testing in a national screening program. European journal of human genetics : EJHG (2022)
Laure Asselin, José Rivera Alvarez, Solveig Heide, Camille S Bonnet, Peggy Tilly, Hélène Vitet, Chantal Weber, Carlos A Bacino, Kristin Baranaño, Anna Chassevent, Amy Dameron, Laurence Faivre, Neil A Hanchard, Sonal Mahida, Kirsty McWalter, Cyril Mignot, Caroline Nava, Agnès Rastetter, Haley Streff, Christel Thauvin-Robinet, Janneke M Weiss, Gladys Zapata, Petra J G Zwijnenburg, Frédéric Saudou, Christel Depienne, Christelle Golzio, Delphine Héron, Juliette D Godin
Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity. Nature communications 11 (1) (2020)
Hui Guo, Elisa Bettella, Paul C Marcogliese, Rongjuan Zhao, Jonathan C Andrews, Tomasz Jan Nowakowski, Madelyn A Gillentine, Kendra Hoekzema, Tianyun Wang, Huidan Wu, Sharayu Jangam, Cenying Liu, Hailun Ni, Marjolein H Willemsen, Bregje W van Bon, Tuula Rinne, Servi J C Stevens, Tjitske Kleefstra, Han G Brunner, Helger G Yntema, Min Long, Wenjing Zhao, Zhengmao Hu, Cindy Colson, Nicolas Richard, Charles E Schwartz, Corrado Romano, Lucia Castiglia, Maria Bottitta, Shweta U Dhar, Deanna J Erwin, Lisa Emrick, Boris Keren, Alexandra Afenjar, Baosheng Zhu, Bing Bai, Pawel Stankiewicz, Kristin Herman, null null, Saadet Mercimek-Mahmutoglu, Jane Juusola, Amy B Wilfert, Rami Abou Jamra, Benjamin Büttner, Heather C Mefford, Alison M Muir, Ingrid E Scheffer, Brigid M Regan, Stephen Malone, Jozef Gecz, Jan Cobben, Janneke M Weiss, Quinten Waisfisz, Emilia K Bijlsma, Mariëtte J V Hoffer, Claudia A L Ruivenkamp, Stefano Sartori, Fan Xia, Jill A Rosenfeld, Raphael A Bernier, Michael F Wangler, Shinya Yamamoto, Kun Xia, Alexander P A Stegmann, Hugo J Bellen, Alessandra Murgia, Evan E Eichler
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders. Nature communications 10 (1) (2019)
Eline Overwater, Rifka Efrat, Daniela Q C M Barge-Schaapveld, Phillis Lakeman, Janneke M Weiss, Alessandra Maugeri, van J Peter Tintelen, Arjan C Houweling
Autosomal dominant Marfan syndrome caused by a previously reported recessive FBN1 variant. Molecular genetics & genomic medicine 7 (2) (2018)