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Richard H. van Jaarsveld

university medical center utrecht

23H-index
70Paper Count
2.7KCitation Count
Published Papers 29
Publication Date
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A de novo missense variant in MIDEAS results in increased deacetylase activity of the MiDAC HDAC complex causing a neurodevelopmental syndrome
errNature Communications
IF15.7
err2025-11-25
err0
errOAAI
errLouise Fairall; Kristupas Sirvydis; Robert E. Turnbull; Suzan JG Knottnerus; Oksana Gonchar; Frederick W. Muskett; Rebekah Jukes-Jones; Lonneke van Brussel; Ellen van de Geer; Koen van Gassen; Paul Badenhorst; Diana Johnson; Paulien A. Terhal; Peter M. van Hasselt; Richard H. van Jaarsveld; John WR Schwabe
errShare
errSave
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder
errThe American Journal of Human Genetics
IF0
err2025-10-18
err0
PREAI
errDmitrijs Rots; Taryn E. Jakub; Crystal Keung; Adam Jackson; Siddharth Banka; Rolph Pfundt; Bert B.A. de Vries; Richard H. van Jaarsveld; Saskia M.J. Hopman; Ellen van Binsbergen; Irene Valenzuela; Maja Hempel; Tatjana Bierhals; Fanny Kortüm; Francois Lecoquierre; Alice Goldenberg; Jens Michael Hertz; Charlotte Brasch Andersen; Maria Kibæk; Eloise J. Prijoles; Roger E. Stevenson; David B. Everman; Wesley G. Patterson; Linyan Meng; Charul Gijavanekar; Karl De Dios; Shenela Lakhani; Tess Levy; Matias Wagner; Dagmar Wieczorek; Paul J. Benke; María Soledad Lopez Garcia; Renee Perrier; Sergio B. Sousa; Pedro M. Almeida; Maria José Simões; Bertrand Isidor; Wallid Deb; Andrew A. Schmanski; Omar Abdul-Rahman; Christophe Philippe; Ange-Line Bruel; Laurence Faivre; Antonio Vitobello; Christel Thauvin; Jeroen J. Smits; Livia Garavelli; Stefano G. Caraffi; Francesca Peluso; Laura Davis-Keppen; Dylan Platt; Erin Royer; Lisette Leeuwen; Margje Sinnema; Alexander P.A. Stegmann; Constance T.R.M. Stumpel; George E. Tiller; Daniëlle G.M. Bosch; Stephanus T. Potgieter; Shelagh Joss; Miranda Splitt; Simon Holden; Matina Prapa; Nicola Foulds; Sofia Douzgou; Kaija Puura; Regina Waltes; Andreas G. Chiocchetti; Christine M. Freitag; F. Kyle Satterstrom; Silvia De Rubeis; Joseph Buxbaum; Bruce D. Gelb; Aleksic Branko; Itaru Kushima; Jennifer Howe; Stephen W. Scherer; Alessia Arado; Chiara Baldo; Olivier Patat; Demeer Bénédicte; Diego Lopergolo; Filippo M. Santorelli; Tobias B. Haack; Andreas Dufke; Miriam Bertrand; Ruth J. Falb; Angelika Rieß; Peter Krieg; Stephanie Spranger; Maria Francesca Bedeschi; Maria Iascone; Sarah Josephi-Taylor; Tony Roscioli; Michael F. Buckley; Jan Liebelt; Aditi I. Dagli; Emmelien Aten; Anna C.E. Hurst; Alesha Hicks; Mohnish Suri; Ermal Aliu; Sunil Naik; Richard Sidlow; Juliette Coursimault; Gaël Nicolas; Hanna Küpper; Florence Petit; Veyan Ibrahim; Deniz Top; Francesca Di Cara; Raymond J. Louie; Elliot Stolerman; Han G. Brunner; Lisenka E.L.M. Vissers; Jamie M. Kramer; Tjitske Kleefstra
errShare
errSave
Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder
errGenetics in Medicine
IF6.2
err2025-08-13
err0
errOAAI
errAmber S.E. van Oirsouw; Pavla Nedbalova; Miroslava Hancarova; Jan Prchal; Darina Prchalova; Marketa Vlckova; Sarka Bendova; Kristin G. Monaghan; Lisa M. Dyer; Yanmin Chen; Deanna Alexis Carere; Emma A.M. te Bogt; Heather Fisher; Angela E. Scheuerle; Stephanie Riley; Mahim Jain; Weiyi Mu; Joann N. Bodurtha; Albertien M. van Eerde; Marijn F. Stokman; Nicola Longo; Meena Balasubramanian; Michael Spiller; Gregory Costain; Charlotte von der Lippe; Kristian Tveten; Marianne Jortveit; Øystein L. Holla; Bertrand Isidor; Benjamin Cogné; Kevin E. Glinton; Blake Vuocolo; Roberta Ann Sierra; Brad Angle; Kelly Bontempo; Klaas Koop; Rachel Rabin; John Pappas; David A. Staffenberg; Pascal Joset; Peter Miny; Isabel Filges; Abdulrazak Alali; Kara Vitalone; Jill A. Rosenfeld; Weimin Bi; Samuel Bradbrook; Renee Perrier; Subhadra Ramanathan; June-Anne Gold; María Palomares Bralo; María Ángeles Gómez-Cano; Ann Haskins Olney; Shelly Nielsen; Alban Ziegler; Dominique Bonneau; Clément Prouteau; Ange-Line Bruel; Charlotte Caille-Benigni; Laëtitia Lambert; Andrea C. Yu; Nathaniel H. Robin; Dana Goodloe; Jan Fischer; Joseph Porrmann; Yvonne D. Hennig; Rami Abou Jamra; Isabella Herman; Ivy R. Johnson; Lucas Hérissant; Guillaume Jouret; Koen L.I. van Gassen; Ellen van Binsbergen; Bert van der Zwaag; Alwin Kamermans; Renske Oegema; Zdenek Sedlacek; Michaela Fenckova; Richard H. van Jaarsveld
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errSave
KDM2B variants in the CxxC domain impair its DNA-binding ability and cause a distinct neurodevelopmental syndrome
errHUMAN MOLECULAR GENETICS
IF3.2
err2025-05-27
err0
errOAAI
errvan Oirsouw, Amber S. E.; Hadders, Michael A.; Koetsier, Martijn; Peters, Edith D. J.; Batzir, Nurit Assia; Barakat, Tahsin Stefan; Baralle, Diana; Beil, Adelyn; Bonnet-Dupeyron, Marie-Noelle; Boone, Philip M.; Bouman, Arjan; Carere, Deanna Alexis; Cogne, Benjamin; Dunnington, Leslie; Farach, Laura S.; Genetti, Casie A.; Isidor, Bertrand; Januel, Louis; Joshi, Aakash; Lahiri, Nayana; Lee, Kristen N.; Maya, Idit; McEntagart, Meriel; Northrup, Hope; Pujalte, Mathilde; Richardson, Kate; Walker, Susan; Koeleman, Bobby P. C.; Alders, Marielle; van Jaarsveld, Richard H.; Oegema, Renske
errShare
errSave
MARK2 variants cause autism spectrum disorder via the downregulation of WNT/b-catenin signaling pathway
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2024-11-01
err1
errOAAI
errGong, Maolei; Li, Jiayi; Qin, Zailong; Wilke, Matheus Vernet Machado Bressan; Liu, Yijun; Li, Qian; Liu, Haoran; Liang, Chen; Morales-Rosado, Joel A.; Cohen, Ana S. A.; Hughes, Susan S.; Sullivan, Bonnie R.; Waddell, Valerie; van den Boogaard, Marie-Jose H.; van Jaarsveld, Richard H.; van Binsbergen, Ellen; van Gassen, Koen L.; Wang, Tianyun; Hiatt, Susan M.; Amaral, Michelle D.; Kelley, Whitley, V; Zhao, Jianbo; Feng, Weixing; Ren, Changhong; Yu, Yazhen; Boczek, Nicole J.; Ferber, Matthew J.; Lahner, Carrie; Elliott, Sherr; Ruan, Yiyan; Mignot, Cyril; Keren, Boris; Xie, Hua; Wang, Xiaoyan; Popp, Bernt; Zweier, Christiane; Piard, Juliette; Coubes, Christine; Mau-Them, Frederic Tran; Safraou, Hana; Innes, A. Micheil; Gauthier, Julie; Michaud, Jacques L.; Koboldt, Daniel C.; Sylvie, Odent; Willems, Marjolaine; Tan, Wen-Hann; Cogne, Benjamin; Rieubland, Claudine; Braun, Dominique; Mclean, Scott Douglas; Platzer, Konrad; Zacher, Pia; Oppermann, Henry; Evenepoel, Lucie; Blanc, Pierre; El Khattabi, Laila; Haque, Neshatul; Dsouza, Nikita R.; Zimmermann, Michael T.; Urrutia, Raul; Klee, Eric W.; Shen, Yiping; Du, Hongzhen; Rappaport, Leonard; Liu, Chang-Mei; Chen, Xiaoli
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errSave
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2024-06-01
err0
errOAAI
errKalm, Tassja; Schob, Claudia; Voeller, Hanna; Gardeitchik, Thatjana; Gilissen, Christian; Pfundt, Rolph; Kloeckner, Chiara; Platzer, Konrad; Klabunde-Cherwon, Annick; Ries, Markus; Syrbe, Steffen; Beccaria, Francesca; Madia, Francesca; Scala, Marcello; Zara, Federico; Hofstede, Floris; Simon, Marleen E. H.; van Jaarsveld, Richard H.; Oegema, Renske; van Gassen, Koen L. I.; Holwerda, Sjoerd J. B.; Barakat, Tahsin Stefan; Bouman, Arjan; Slegtenhorst, Marjon van; Alvarez, Sara; Fernandez-Jaen, Alberto; Porta, Javier; Accogli, Andrea; Mancardi, Margherita Maria; Striano, Pasquale; Iacomino, Michele; Chae, Jong-Hee; Jang, SeSong; Kim, Soo Y.; Chitayat, David; Mercimek-Andrews, Saadet; Depienne, Christel; Kampmeier, Antje; Kuechler, Alma; Surowy, Harald; Bertini, Enrico Silvio; Radio, Francesca Clementina; Mancini, Cecilia; Pizzi, Simone; Tartaglia, Marco; Gauthier, Lucas; Genevieve, David; Tharreau, Mylene; Azoulay, Noy; Zaks-Hoffer, Gal; Gilad, Nesia K.; Orenstein, Naama; Bernard, Genevieve; Thiffault, Isabelle; Denecke, Jonas; Herget, Theresia; Kortum, Fanny; Kubisch, Christian; Bahring, Robert; Kindler, Stefan
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errSave
Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations
errCELL DEATH & DISEASE
IF9.6
err2024-05-30
err6
errOAAI
errWerren, Elizabeth A.; Peirent, Emily R.; Jantti, Henna; Guxholli, Alba; Srivastava, Kinshuk Raj; Orenstein, Naama; Narayanan, Vinodh; Wiszniewski, Wojciech; Dawidziuk, Mateusz; Gawlinski, Pawel; Umair, Muhammad; Khan, Amjad; Khan, Shahid Niaz; Genevieve, David; Lehalle, Daphne; van Gassen, K. L. I.; Giltay, Jacques C.; Oegema, Renske; van Jaarsveld, Richard H.; Rafiullah, Rafiullah; Rappold, Gudrun A.; Rabin, Rachel; Pappas, John G.; Wheeler, Marsha M.; Bamshad, Michael J.; Tsan, Yao-Chang; Johnson, Matthew B.; Keegan, Catherine E.; Srivastava, Anshika; Bielas, Stephanie L.
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errSave
A ubiquitin-based effector-to-inhibitor switch coordinates early brain, craniofacial, and skin development
errNATURE COMMUNICATIONS
IF15.7
err2023-07-26
err1
errOAAI
errAsmar, Anthony J.; Abrams, Shaun R.; Hsin, Jenny; Collins, Jason C.; Yazejian, Rita M.; Wu, Youmei; Cho, Jean; Doyle, Andrew D.; Cinthala, Samhitha; Simon, Marleen; van Jaarsveld, Richard H.; Beck, David B.; Kerosuo, Laura; Werner, Achim
errShare
errSave
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2023-06-01
err11
errOAAI
errRots, Dmitrijs; Jakub, Taryn E.; Keung, Crystal; Lisenka, Vissers E. L. M.; Banka, Siddharth; Pfundt, Rolph; de Vries, Bert B. A.; van Jaarsveld, Richard H.; Hopman, Saskia M. J.; van Binsbergen, Ellen; Valenzuela, Irene; Hempel, Maja; Bierhals, Tatjana; Kortuem, Fanny; Lecoquierre, Francois; Goldenberg, Alice; Hertz, Jens Michael; Andersen, Charlotte Brasch; Kibaek, Maria; Prijoles, Eloise J.; Stevenson, Roger E.; Everman, David B.; Patterson, Wesley G.; Meng, Linyan; Gijavanekar, Charul; De Dios, Karl; Lakhani, Shenela; Levy, Tess; Wagner, Matias; Wieczorek, Dagmar; Benke, Paul J.; Garcia, Maria Soledad Lopez; Perrier, Renee; Sousa, Sergio B.; Almeida, Pedro M.; Simoes, Maria Jose; Isidor, Bertrand; Deb, Wallid; Schmanski, Andrew A.; Abdul-Rahman, Omar; Philippe, Christophe; Bruel, Ange-Line; Faivre, Laurence; Vitobello, Antonio; Thauvin, Christel; Smits, Jeroen J.; Garavelli, Livia; Caraffi, Stefano G.; Peluso, Francesca; Davis-Keppen, Laura; Platt, Dylan; Royer, Erin; Leeuwen, Lisette; Sinnema, Margje; Stegmann, Alexander P. A.; Stumpel, Constance T. R. M.; Tiller, George E.; Bosch, Danielle G. M.; Potgieter, Stephanus T.; Joss, Shelagh; Splitt, Miranda; Holden, Simon; Prapa, Matina; Foulds, Nicola; Douzgou, Sofia; Puura, Kaija; Waltes, Regina; Chiocchetti, Andreas G.; Freitag, Christine M.; Satterstrom, F. Kyle; De Rubeis, Silvia; Buxbaum, Joseph; Gelb, Bruce D.; Branko, Aleksic; Kushima, Itaru; Howe, Jennifer; Scherer, Stephen W.; Arado, Alessia; Baldo, Chiara; Patat, Olivier; Benedicte, Demeer; Lopergolo, Diego; Santorelli, Filippo M.; Haack, Tobias B.; Dufke, Andreas; Bertrand, Miriam; Falb, Ruth J.; Riess, Angelika; Krieg, Peter; Spranger, Stephanie; Bedeschi, Maria Francesca; Iascone, Maria; Josephi-Taylor, Sarah; Roscioli, Tony; Buckley, Michael F.; Liebelt, Jan; Dagli, Aditi I.; Aten, Emmelien; Hurst, Anna C. E.; Hicks, Alesha; Suri, Mohnish; Aliu, Ermal; Naik, Sunil; Sidlow, Richard; Coursimault, Juliette; Nicolas, Gael; Kuepper, Hanna; Petit, Florence; Ibrahim, Veyan; Top, Deniz; Di Cara, Francesca; Louie, Raymond J.; Stolerman, Elliot; Brunner, Han G.; Vissers, Lisenka E. L. M.; Kramer, Jamie M.; Kleefstra, Tjitske
errShare
errSave
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production
errSCIENCE TRANSLATIONAL MEDICINE
IF14.6
err2023-05-31
err11
errOAAI
errEbstein, Frederic; Kuery, Sebastien; Most, Victoria; Rosenfelt, Cory; Scott-Boyer, Marie-Pier; van Woerden, Geeske M.; Besrard, Thomas; Papendorf, Jonas Johannes; Studencka-Turski, Maja; Wang, Tianyun; Hsieh, Tzung-Chien; Golnik, Richard; Baldridge, Dustin; Forster, Cara; de Konink, Charlotte; Teurlings, Selina M. W.; Vignard, Virginie; van Jaarsveld, Richard H.; Ades, Lesley; Cogne, Benjamin; Mignot, Cyril; Deb, Wallid; Jongmans, Marjolijn C. J.; Cole, F. Sessions; van den Boogaard, Marie-Jose H.; Wambach, Jennifer A.; Wegner, Daniel J.; Yang, Sandra; Hannig, Vickie; Brault, Jennifer Ann; Zadeh, Neda; Bennetts, Bruce; Keren, Boris; Gelineau, Anne-Claire; Powis, Zoee; Towne, Meghan; Bachman, Kristine; Seeley, Andrea; Beck, Anita E.; Morrison, Jennifer; Westman, Rachel; Averill, Kelly; Brunet, Theresa; Haasters, Judith; Carter, Melissa T.; Osmond, Matthew; Wheeler, Patricia G.; Forzano, Francesca; Mohammed, Shehla; Trakadis, Yannis; Accogli, Andrea; Harrison, Rachel; Guo, Yiran; Hakonarson, Hakon; Rondeau, Sophie; Baujat, Genevieve; Barcia, Giulia; Feichtinger, Rene Guenther; Mayr, Johannes Adalbert; Preisel, Martin; Laumonnier, Frederic; Kallinich, Tilmann; Knaus, Alexej; Isidor, Bertrand; Krawitz, Peter; Voelker, Uwe; Hammer, Elke; Droit, Arnaud; Eichler, Evan E.; Elgersma, Ype; Hildebrand, Peter W.; Bolduc, Francois; Krueger, Elke; Bezieau, Stephane
errShare
errSave
Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature
errGENETICS IN MEDICINE
IF6.2
err2023-01-01
err11
errOAAI
errvan Jaarsveld, Richard H.; Reilly, Jack; Cornips, Marie-Claire; Hadders, Michael A.; Agolini, Emanuele; Ahimaz, Priyanka; Anyane-Yeboa, Kwame; Bellanger, Severine Audebert; van Binsbergen, Ellen; van den Boogaard, Marie-Jose; Brischoux-Boucher, Elise; Caylor, Raymond C.; Ciolfi, Andrea; van Essen, Ton A. J.; Fontana, Paolo; Hopman, Saskia; Iascone, Maria; Javier, Margaret M.; Kamsteeg, Erik-Jan; Kerkhof, Jennifer; Kido, Jun; Kim, Hyung-Goo; Kleefstra, Tjitske; Lonardo, Fortunato; Lai, Abbe; Lev, Dorit; Levy, Michael A.; Lewis, M. E. Suzanne; Lichty, Angie; Mannens, Marcel M. A. M.; Matsumoto, Naomichi; Maya, Idit; McConkey, Haley; Megarbane, Andre; Michaud, Vincent; Miele, Evelina; Niceta, Marcello; Novelli, Antonio; Onesimo, Roberta; Pfundt, Rolph; Popp, Bernt; Prijoles, Eloise; Relator, Raissa; Redon, Sylvia; Rots, Dmitrijs; Rouault, Karen; Saida, Ken; Schieving, Jolanda; Tartaglia, Marco; Tenconi, Romano; Uguen, Kevin; Verbeek, Nienke; Walsh, Christopher A.; Yosovich, Keren; Yuskaitis, Christopher J.; Zampino, Giuseppe; Sadikovic, Bekim; Alders, Marielle; Oegema, Renske
errShare
errSave
TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2022-12-01
err9
errOAAI
errHijazi, Hadia; Reis, Linda M.; Pehlivan, Davut; Bernstein, Jonathan A.; Muriello, Michael; Syverson, Erin; Bonner, Devon; Estiar, Mehrdad A.; Gan-Or, Ziv; Rouleau, Guy A.; Lyulcheva, Ekaterina; Greenhalgh, Lynn; Tessarech, Marine; Colin, Estelle; Guichet, Agnes; Bonneau, Dominique; van Jaarsveld, R. H.; Lachmeijer, A. M. A.; Ruaud, Lyse; Levy, Jonathan; Tabet, Anne-Claude; Ploski, Rafal; Rydzanicz, Magorzata; Kepczynski, Lukasz; Poatynska, Katarzyna; Li, Yidan; Fatih, Jawid M.; Marafi, Dana; Rosenfeld, Jill A.; Coban-Akdemir, Zeynep; Bi, Weimin; Gibbs, Richard A.; Hobson, Grace M.; Hunter, Jill V.; Carvalho, Claudia M. B.; Posey, Jennifer E.; Semina, Elena V.; Lupski, James R.
errShare
errSave
Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome
errJOURNAL OF MEDICAL GENETICS
IF3.7
err2022-09-16
err11
errOAAI
errOtsuji, Shiomi; Nishio, Yosuke; Tsujita, Maki; Rio, Marlene; Huber, Celine; Anton-Plagaro, Carlos; Mizuno, Seiji; Kawano, Yoshihiko; Miyatake, Satoko; Simon, Marleen; van Binsbergen, Ellen; van Jaarsveld, Richard H.; Matsumoto, Naomichi; Cormier-Daire, Valerie; Cullen, Peter J.; Saitoh, Shinji; Kato, Kohji
errShare
errSave
De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorder
errHUMAN MUTATION
IF3.7
err2022-08-10
err5
errOAAI
errJanssen, Beau D. E.; van den Boogaard, Marie-Jose H.; Lichtenbelt, Klaske; Seaby, Eleanor G.; Stals, Karen; Ellard, Sian; Newbury-Ecob, Ruth; Dixit, Abhijit; Roht, Laura; Pajusalu, Sander; Ounap, Katrin; Firth, Helen, V; Buckley, Michael; Wilson, Meredith; Roscioli, Tony; Tidwell, Timothy; Mao, Rong; Ennis, Sarah; Holwerda, Sjoerd J.; van Gassen, Koen; van Jaarsveld, Richard H.
errShare
errSave
Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder
errGENETICS IN MEDICINE
IF6.2
err2022-08-01
err14
errOAAI
errCuinat, Silvestre; Nizon, Mathilde; Isidor, Bertrand; Stegmann, Alexander; van Jaarsveld, Richard H.; van Gassen, Koen L.; van der Smagt, Jasper J.; Volker-Touw, Catharina M. L.; Holwerda, Sjoerd J. B.; Terhal, Paulien A.; Schuhmann, Sarah; Vasileiou, Georgia; Khalifa, Mohamed; Nugud, Alaa A.; Yasaei, Hemad; Ousager, Lilian Bomme; Brasch-Andersen, Charlotte; Deb, Wallid; Besnard, Thomas; Simon, Marleen E. H.; Huijsdens-van Amsterdam, Karin; Verbeek, Nienke E.; Matalon, Dena; Dykzeul, Natalie; White, Shana; Spiteri, Elizabeth; Devriendt, Koen; Boogaerts, Anneleen; Willemsen, Marjolein; Brunner, Han G.; Sinnema, Margje; De Vries, Bert B. A.; Gerkes, Erica H.; Pfundt, Rolph; Izumi, Kosuke; Krantz, Ian D.; Xu, Zhou L.; Murrell, Jill R.; Valenzuela, Irene; Cusco, Ivon; Rovira-Moreno, Eulalia; Yang, Yaping; Bizaoui, Varoona; Patat, Olivier; Faivre, Laurence; Tran-Mau-Them, Frederic; Vitobello, Antonio; Denomme-Pichon, Anne-Sophie; Philippe, Christophe; Bezieau, Stephane; Cogne, Benjamin
errShare
errSave
A gene-to-patient approach uplifts novel disease gene discovery and identifies 18 putative novel disease genes
errGENETICS IN MEDICINE
IF6.2
err2022-08-01
err13
errOAAI
errSeaby, Eleanor G.; Smedley, Damian; Tavares, Ana Lisa Taylor; Brittain, Helen; van Jaarsveld, Richard H.; Baralle, Diana; Rehm, Heidi L.; O'Donnell-Luria, Anne; Ennis, Sarah
errShare
errSave
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD
errBRAIN
IF11.7
err2022-07-27
err12
errOAAI
errPavinato, Lisa; Delle Vedove, Andrea; Carli, Diana; Ferrero, Marta; Carestiato, Silvia; Howe, Jennifer L.; Agolini, Emanuele; Coviello, Domenico A.; van de Laar, Ingrid; Au, Ping Yee Billie; Di Gregorio, Eleonora; Fabbiani, Alessandra; Croci, Susanna; Mencarelli, Maria Antonietta; Bruno, Lucia P.; Renieri, Alessandra; Veltra, Danai; Sofocleous, Christalena; Faivre, Laurence; Mazel, Benoit; Safraou, Hana; Denomme-Pichon, Anne-Sophie; van Slegtenhorst, Marjon A.; Giesbertz, Noor; van Jaarsveld, Richard H.; Childers, Anna; Rogers, R. Curtis; Novelli, Antonio; De Rubeis, Silvia; Buxbaum, Joseph D.; Scherer, Stephen W.; Ferrero, Giovanni Battista; Wirth, Brunhilde; Brusco, Alfredo
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Impaired activity of the fusogenic micropeptide Myomixer causes myopathy resembling Carey-Fineman-Ziter syndrome
errJOURNAL OF CLINICAL INVESTIGATION
IF13.6
err2022-06-01
err16
errOAAI
errRamirez-Martinez, Andres; Zhang, Yichi; Van den Boogaard, Marie-Jose; McAnally, John R.; Rodriguez-Caycedo, Cristina; Chai, Andreas C.; Chemello, Francesco; Massink, Maarten P. G.; Cuppen, Inge; Elferink, Martin G.; van Es, Robert J. J.; Janssen, Nard G.; Walraven-van Oijen, Linda P. A. M.; Liu, Ning; Bassel-Duby, Rhonda; van Jaarsveld, Richard H.; Olson, Eric N.
errShare
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Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2022-02-01
err14
errOAAI
errKury, Sebastien; Ebstein, Frederic; Molle, Alice; Besnard, Thomas; Lee, Ming-Kang; Vignard, Virginie; Hery, Tiphaine; Nizon, Mathilde; Mancini, Grazia M. S.; Giltay, Jacques C.; Cogne, Benjamin; McWalter, Kirsty; Deb, Wallid; Mor-Shaked, Hagar; Li, Hong; Schnur, Rhonda E.; Wentzensen, Ingrid M.; Denomme-Pichon, Anne-Sophie; Fourgeux, Cynthia; Verheijen, Frans W.; Faurie, Eva; Schot, Rachel; Stevens, Cathy A.; Smits, Daphne J.; Barr, Eileen; Sheffer, Ruth; Bernstein, Jonathan A.; Stimach, Chandler L.; Kovitch, Eliana; Shashi, Vandana; Schoch, Kelly; Smith, Whitney; van Jaarsveld, Richard H.; Hurst, Anna C. E.; Smith, Kirstin; Baugh, Evan H.; Bohm, Suzanne G.; Vyhnalkova, Emilie; Ryba, Lukas; Delnatte, Capucine; Neira, Juanita; Bonneau, Dominique; Toutain, Annick; Rosenfeld, Jill A.; Audebert-Bellanger, Severine; Gilbert-Dussardier, Brigitte; Odent, Sylvie; Laumonnier, Frederic; Berger, Seth, I; Smith, Ann C. M.; Bourdeaut, Franck; Stern, Marc-Henri; Redon, Richard; Krueger, Elke; Margueron, Raphael; Bezieau, Stephane; Poschmann, Jeremie; Isidor, Bertrand
errShare
errSave
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations
errGENETICS IN MEDICINE
IF6.2
err2021-10-01
err28
errOAAI
errRodan, Lance H.; Spillmann, Rebecca C.; Kurata, Harley T.; Lamothe, Shawn M.; Maghera, Jasmine; Abou Jamra, Rami; Alkelai, Anna; Antonarakis, Stylianos E.; Atallah, Isis; Bar-Yosef, Omer; Bilan, Frederic; Bjorgo, Kathrine; Blanc, Xavier; Van Bogaert, Patrick; Bolkier, Yoav; Burrage, Lindsay C.; Christ, Bjorn U.; Granadillo, Jorge L.; Dickson, Patricia; Donald, Kirsten A.; Dubourg, Christele; Eliyahu, Aviva; Emrick, Lisa; Engleman, Kendra; Gonfiantini, Michaela Veronika; Good, Jean-Marc; Kalser, Judith; Kloeckner, Chiara; Lachmeijer, Guus; Macchiaiolo, Marina; Nicita, Francesco; Odent, Sylvie; O'Heir, Emily; Ortiz-Gonzalez, Xilma; Pacio-Miguez, Marta; Palomares-Bralo, Maria; Pena, Loren; Platzer, Konrad; Quinodoz, Mathieu; Ranza, Emmanuelle; Rosenfeld, Jill A.; Roulet-Perez, Eliane; Santani, Avni; Santos-Simarro, Fernando; Pode-Shakked, Ben; Skraban, Cara; Slaugh, Rachel; Superti-Furga, Andrea; Thiffault, Isabelle; van Jaabrsveld, Richard H.; Vincent, Marie; Wang, Hong-Gang; Zacher, Pia; Rush, Eric; Pitt, Geoffrey; Au, Ping Yee Billie; Shashi, Vandana
errShare
errSave

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H
Hans Clevers
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