Hans van Bokhoven

ResearcherID Loop profile ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2018-2023
Publications (10 Years): 11

Top Topics

Mitochondrial Dna

Duchenne Muscular Dystrophy

Intellectual Disability

Top Venues

American journal of medical genetics. Part A

European journal of human genetics : EJHG

Stem cell reviews and reports

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

Publications

Alan P Tenney, Silvio Alessandro Di Gioia, Bryn D Webb, Wai-Man Chan, Elke de Boer, Sarah J Garnai, Brenda J Barry, Tammy Ray, Michael Kosicki, Caroline D Robson, Zhongyang Zhang, Thomas E Collins, Alon Gelber, Brandon M Pratt, Yuko Fujiwara, Arushi Varshney, Monkol Lek, Peter E Warburton, Carol Van Ryzin, Tanya J Lehky, Christopher Zalewski, Kelly A King, Carmen C Brewer, Audrey Thurm, Joseph Snow, Flavia M Facio, Narisu Narisu, Lori L Bonnycastle, Amy Swift, Peter S Chines, Jessica L Bell, Suresh Mohan, Mary C Whitman, Sandra E Staffieri, James E Elder, Joseph L Demer, Alcy Torres, Elza Rachid, Christiane Al-Haddad, Rose-Mary N Boustany, David A Mackey, Angela F Brady, María Fenollar-Cortés, Melanie Fradin, Tjitske Kleefstra, George W Padberg, Salmo Raskin, Mario Teruo Sato, Stuart H Orkin, Stephen C J Parker, Tessa A Hadlock, Lisenka E L M Vissers, Hans van Bokhoven, Ethylin Wang Jabs, Francis S Collins, Len A Pennacchio, Irini Manoli, Elizabeth C Engle
Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis. Nature genetics (2023)
Hamid Meziane, Marie-Christine Birling, Olivia Wendling, Sophie Leblanc, Aline Dubos, Mohammed Selloum, Guillaume Pavlovic, Tania Sorg, Vera M Kalscheuer, Pierre Billuart, Frederic Laumonnier, Jamel Chelly, Hans van Bokhoven, Yann Hérault
Large-Scale Functional Assessment of Genes Involved in Rare Diseases with Intellectual Disabilities Unravels Unique Developmental and Behaviour Profiles in Mouse Models. Biomedicines 10 (12) (2022)
Hamid Meziane, Marie-Christine Birling, Olivia Wendling, Sophie Leblanc, Aline Dubos, Mohammed Selloum, Guillaume Pavlovic, Tania Sorg, Vera M Kalscheuer, Pierre Billuart, Frederic Laumonnier, Jamel Chelly, Hans van Bokhoven, Yann Hérault
Large-Scale Functional Assessment of Genes Involved in Rare Diseases with Intellectual Disabilities Unravels Unique Developmental and Behaviour Profiles in Mouse Models. Biomedicines 10 (12) (2022)
Nuno Maia, Nekane Ibarluzea, Mala Misra-Isrie, Daniel C Koboldt, Isabel Marques, Gabriela Soares, Rosário Santos, Carlo L M Marcelis, Riikka Keski-Filppula, Miriam Guitart, Elisabeth Gabau Vila, April Lehman, Scott Hickey, Mari Mori, Paulien Anna Terhal, Maria Irene Valenzuela Palafoll, Amaia Lasa-Aranzasti, Anna Maria Cueto-González, Brian H Chhouk, Rebecca C Yeh, Jennifer E Neil, Bassam Abu-Libde, Tjitske Kleefstra, Mariet W Elting, Andrea Császár, Judit Kárteszi, Beáta Bessenyei, Hans van Bokhoven, Paula Jorge, Johanna M van Hagen, Arjan Pm de Brouwer
Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes. American journal of medical genetics. Part A (2022)
Loredana Poeta, Agnese Padula, Maria Brigida Lioi, Hans van Bokhoven, Maria Giuseppina Miano
Analysis of a Set of KDM5C Regulatory Genes Mutated in Neurodevelopmental Disorders Identifies Temporal Coexpression Brain Signatures. Genes 12 (7) (2021)
Britt Mossink, Jon-Ruben van Rhijn, Shan Wang, Katrin Linda, Maria R Vitale, Johanna E M Zöller, Eline J H van Hugte, Jitske Bak, Anouk H A Verboven, Martijn M Selten, Moritz Negwer, Brooke L Latour, Ilse M van der Werf, Jason M Keller, Teun M Klein Gunnewiek, Chantal Schoenmaker, Astrid Oudakker, Alessia Anania, Sophie Jansen, Klaus-Peter Lesch, Monica Frega, Hans van Bokhoven, Dirk Schubert, Nael Nadif Kasri
Cadherin-13 is a critical regulator of GABAergic modulation in human stem-cell-derived neuronal networks. Molecular psychiatry (2021)
Marina P Hommersom, Ronald A M Buijsen, Willeke M C van Roon-Mom, Bart P C Van De Warrenburg, Hans van Bokhoven
Human Induced Pluripotent Stem Cell-Based Modelling of Spinocerebellar Ataxias. Stem cell reviews and reports (2021)
Amama Ghaffar, Faiza Rasheed, Muhammad Rashid, Hans van Bokhoven, Zubair M Ahmed, Sheikh Riazuddin, Saima Riazuddin
Biallelic in-frame deletion of SOX4 is associated with developmental delay, hypotonia and intellectual disability. European journal of human genetics : EJHG (2021)
Nydia Rena Benita Sihombing, Tri Indah Winarni, Hans van Bokhoven, Ineke van der Burgt, Nicole de Leeuw, Sultana Muhammad Hussein Faradz
Pathogenic variant in NFIX gene affecting three sisters due to paternal mosaicism. American journal of medical genetics. Part A 182 (11) (2020)
Kriti D Khandelwal, Marie-José H van den Boogaard, Sarah L Mehrem, Jakob Gebel, Christina R Fagerberg, Ellen van Beusekom, Ellen van Binsbergen, Ozan Topaloglu, Marloes Steehouwer, Christian Gilissen, Nina Ishorst, Iris A L M van Rooij, Nel Roeleveld, Kaare Christensen, Joseph Schoenaers, Stefaan Bergé, Jeffrey C Murray, Greet Hens, Koenraad Devriendt, Kerstin U Ludwig, Elisabeth Mangold, Alexander Hoischen, Huiqing Zhou, Volker Dötsch, Carine E L Carels, Hans van Bokhoven
Deletions and loss-of-function variants in TP63 associated with orofacial clefting. European journal of human genetics : EJHG 27 (7) (2019)
Martijn Selten, Hans van Bokhoven, Nael Nadif Kasri
Inhibitory control of the excitatory/inhibitory balance in psychiatric disorders. F1000Research 7 (2018)