Stella A de Man

Publication Activity (10 Years)

Years Active: 2021-2022
Publications (10 Years): 4

Top Topics

Dna Methylation

Intellectual Disability

Top Venues

Journal of neurophysiology

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

Publications

Aguan D Wei, Paul Wakenight, Theresa A Zwingman, Angela M Bard, Nikhil Sahai, Marjolein H Willemsen, Helenius J Schelhaas, Alexander P A Stegmann, Judith S Verhoeven, Stella A de Man, Marja W Wessels, Tjitske Kleefstra, Deepali N Shinde, Katherine L Helbig, Alice Basinger, Victoria F Wagner, David Rodriguez-Buritica, Emily Bryant, John J Millichap, Kathleen J Millen, William B Dobyns, Jan-Marino Ramirez, Franck K Kalume
Human KCNQ5 de novo mutations underlie epilepsy and intellectual disability. Journal of neurophysiology 128 (1) (2022)
Marcello Scala, Nathalie Drouot, Suzanna C MacLennan, Marja W Wessels, Magdalena Krygier, Lisa Pavinato, Aida Telegrafi, Stella A de Man, Marjon van Slegtenhorst, Michele Iacomino, Francesca Madia, Paolo Scudieri, Paolo Uva, Thea Giacomini, Giulia Nobile, Maria Margherita Mancardi, Ganna Balagura, Giovanni Battista Galloni, Alberto Verrotti, Muhammad Umair, Amjad Khan, Jan Liebelt, Miriam Schmidts, Thorsten Langer, Alfredo Brusco, Beata S Lipska-Ziętkiewicz, Jasper J Saris, Nicolas Charlet-Berguerand, Federico Zara, Pasquale Striano, Amelie Piton
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes. Human mutation 43 (9) (2022)
Ilaria Parenti, Daphne Lehalle, Caroline Nava, Erin Torti, Elsa Leitão, Richard Person, Takeshi Mizuguchi, Naomichi Matsumoto, Mitsuhiro Kato, Kazuyuki Nakamura, Stella A de Man, Heidi Cope, Vandana Shashi, null null, Jennifer Friedman, Pascal Joset, Katharina Steindl, Anita Rauch, Irena Muffels, Peter M van Hasselt, Florence Petit, Thomas Smol, Gwenaël Le Guyader, Frederic Bilan, Arthur Sorlin, Antonio Vitobello, Christophe Philippe, Ingrid M B H van de Laar, Marjon A van Slegtenhorst, Philippe M Campeau, Ping Yee Billie Au, Mitsuko Nakashima, Hirotomo Saitsu, Tatsuya Yamamoto, Yumiko Nomura, Raymond J Louie, Michael J Lyons, Amy Dobson, Astrid S Plomp, M Mahdi Motazacker, Frank J Kaiser, Andrew T Timberlake, Sabine A Fuchs, Christel Depienne, Mignot Cyril
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy. Human genetics 140 (7) (2021)
Marja W Wessels, Marjon H Cnossen, Thamar B van Dijk, Nynke Gillemans, K L Juliëtte Schmidt, Kirsten van Lom, Divya S Vinjamur, Steven Coyne, Ryo Kurita, Yukio Nakamura, Stella A de Man, Rolph Pfundt, Zakia Azmani, Rutger W W Brouwer, Daniel E Bauer, Mirjam C G N van den Hout, Wilfred F J Van IJcken, Sjaak Philipsen
Molecular analysis of the erythroid phenotype of a patient with BCL11A haploinsufficiency. Blood advances 5 (9) (2021)