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Richard Sidlow

department of medical genetics and metabolism

6H-index
29Paper Count
134Citation Count
Published Papers 14
Publication Date
Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants
err2026-01-28
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errSebastian Ortiz; Leonardo Affronte; Chiara Bagliani; Serene El-Kamand; Anthony Sze Hon Kan; Isabel T. Kristoffersen; Rebekka S. Dahl; Anne F. Højte; Stéphane Auvin; Arjan Bouman; Shimriet Zeidler; Gerhard Kluger; Gaetan Lesca; Nicolas Chatron; Zeynep Goke-Samar; Maria T. Papadopoulou; Matthildi Athina Papathanasiou Terzi; Elise Schaefer; Anne de Saint Martin; Sarah Baer; Mohammed Al Owain; Saud Takroni; Hesham Al-Dhalaan; Paolo Bonanni; Alessandra Rossi; Nicoletta Zanotta; Marina Trivisano; Nicola Specchio; Angela de Dominicis; Pasquale Striano; Alessandro Orsini; Maria Margherita Mancardi; Sebastian Neuens; Melanie Jennesson-Lyver; Ira Benkel-Herrenbrueck; David Genevieve; Richard Sidlow; Kamer Tezcan; Ilona Krey; Johannes R. Lemke; Konrad Platzer; Damien Lederer; Inga Talvik; Ulvi Vaher; Kees P. J. Braun; Anne-Marie Guerrot; Rebecca More; Matthias De Wachter; Sarah Weckhuysen; Evelina Carapancea; Maria Roberta Cilio; Julia Jacobs; Katalin Sterbova; Simona Balestrini; Renzo Guerrini; Giulio Peroni; Inger-Lise Mero; Walaa ElNaggar; Nour Elkhateeb; Ariane Schmetz; Denise L. Chan; Ghayda M. Mirzaa; Boris Chaumette; Adrien Legrand; Amy McTague; Tommy Stödberg; Rebekah V. Harris; Samuel F. Berkovic; Ingrid E. Scheffer; Mary Chebib; Elena Gardella; Philip K. Ahring; Nathan L. Absalom; Rikke S. Møller
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The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder
err2025-10-18
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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
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Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization
err2025-06-25
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PREAI
errCamille Engel; Michaela Rendek; Jessica Assoumani; Emanuela Argilli; Francesca Ariani; Anne-Laude Avice-Denizet; Emilia K. Bijlsmaa; Pierre Blanc; Lucia Pia Bruno; Bert Callewaert; Valeria Capra; Michele Carullo; Bertrand Chesneau; Sandra Coppens; Cynthia Curry; Breanne Dale; Eric Dahlen; Andrée Delahaye-Duriez; Anne-Sophie Denommé-Pichon; Bénédicte Demeer; Lenka Dvořáková; Jan Fischer; David Geneviève; Thea Giacomini; Mette M. Handrup; Delphine Heron; Irina Hüning; Michelle Iacomino; Bertrand Isidor; Boris Keren; Stanislav Kmoch; David A. Koolen; Andrea Kübler; Jana Laštůvková; Carolyn Le; Jonathan Levy; Caterina Lo Rizzo; Silvia Maitz; Sandrine Marlin; Cyril Mignot; Ghayda Mirzaa; Inga Nagel; Sebastian Neuens; Lenka Nosková; Emily Pao; Anna Pecková; Julie Plaisancie; Joseph Porrmann; Flavia Privitera; André Reis; Alessandra Renieri; Marlène Rio; Alyssa Rippert; Lukáš Ryba; Marcello Scala; Jolanda H. Schieving; Elliott H. Sherr; Andrew Shuen; Richard Sidlow; Thomas Smol; Julie Soblet; Pasquale Striano; Mohnish Suri; Hannes Syryn; Frédéric Tran Mau-Them; Andre M. Travessa; Julien Van Gils; Georgia Vasileiou; Jolijn J. A. Verseput; Catheline Vilain; Catherine Vincent-Delorme; Emílie Vyhnálková; Emma L. Wakeling; Pia Zacher; Federico Zara; Paul Kuentz; Juliette Piard
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The phenotypic spectrum of individuals with SLC16A2 variants in MCT8 deficiency
err2025-05-13
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errOAAI
errKirsty McWalter; Houda Zghal Elloumi; Richard Sidlow; Ben Willis; Andrew J. Bauer
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DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders
err2025-02-01
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errLessel, Ivana; Baresic, Anja; Chinn, Ivan K.; May, Jonathan; Goenka, Anu; Chandler, Kate E.; Posey, Jennifer E.; Afenjar, Alexandra; Averdunk, Luisa; Bedeschi, Maria Francesca; Besnard, Thomas; Brager, Rae; Brick, Lauren; Brugger, Melanie; Brunet, Theresa; Byrne, Susan; de la Calle-Martin, Oscar; Capra, Valeria; Cardenas, Paul; Chappe, Celine; Chong, Hey J.; Cogne, Benjamin; Conboy, Erin; Cope, Heidi; Courtin, Thomas; Deb, Wallid; Dilena, Robertino; Dubourg, Christele; Elgizouli, Magdeldin; Fernandes, Erica; Fitzgerald, Kristi K.; Gangi, Silvana; George-Abraham, Jaya K.; Gucsavas-Calikoglu, Muge; Haack, Tobias B.; Hadonou, Medard; Hanker, Britta; Huning, Irina; Iascone, Maria; Isidor, Bertrand; Jarvela, Irma; Jin, Jay J.; Jorge, Alexander A. L.; Josifova, Dragana; Kalinauskiene, Ruta; Kamsteeg, Erik-Jan; Keren, Boris; Kessler, Elena; Koelbel, Heike; Kozenko, Mariya; Kubisch, Christian; Kuechler, Alma; Leal, Suzanne M.; Leppala, Juha; Luu, Sharon M.; Lyon, Gholson J.; Madan-Khetarpal, Suneeta; Mancardi, Margherita; Marchi, Elaine; Mehta, Lakshmi; Menendez, Beatriz; Morel, Chantal F.; Harasink, Sue Moyer; Nevay, Dayna-Lynn; Nigro, Vincenzo; Odent, Sylvie; Oegema, Renske; Pappas, John; Pastore, Matthew T.; Perilla-Young, Yezmin; Platzer, Konrad; Powell-Hamilton, Nina; Rabin, Rachel; Rekab, Aisha; Rezende, Raissa C.; Robert, Leema; Romano, Ferruccio; Scala, Marcello; Poths, Karin; Schrauwen, Isabelle; Sebastian, Jessica; Short, John; Sidlow, Richard; Sullivan, Jennifer; Szakszon, Katalin; Tan, Queenie K. G.; Wagner, Matias; Wieczorek, Dagmar; Yuan, Bo; Maeding, Nicole; Strunk, Dirk; Begtrup, Amber; Banka, Siddharth; Lupski, James R.; Tolosa, Eva; Lessel, Davor
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Sequence variants in HECTD1 result in a variable neurodevelopmental disorder
err2025-01-01
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errOAAI
errZerafati-Jahromi, Gazelle; Oxman, Elias; Hoang, Hieu D.; Charng, Wu-Lin; Kotla, Tanvitha; Yuan, Weimin; Ishibashi, Keito; Sebaoui, Sonia; Luedtke, Kathryn; Winrow, Bryce; Ganetzky, Rebecca D.; Ruiz, Anna; Manso-Basuz, Carmen; Spataro, Nino; Kannu, Peter; Athey, Taryn; Peroutka, Christina; Barnes, Caitlin; Sidlow, Richard; Anadiotis, George; Magnussen, Kari; Valenzuela, Irene; Moles-Fernandez, Alejandro; Berger, Seth; Grant, Christina L.; Vilain, Eric; Arnadottir, Gudny A.; Sulem, Patrick; Sulem, Telma S.; Stefansson, Kari; Massey, Shavonne; Ginn, Natalie; Poduri, Annapurna; D'Gama, Alissa M.; Valentine, Rozalia; Trowbridge, Sara K.; Murali, Chaya N.; Franciskovich, Rachel; Tran, Yen; Webb, Bryn D.; Keppler-Noreuil, Kim M.; Hall, April L.; Mcgivern, Bobbi; Monaghan, Kristin G.; Sacoto, Maria J. Guillen; Baldridge, Dustin; Silverman, Gary A.; Dahiya, Sonika; Turner, Tychele N.; Schedl, Tim; Corbin, Joshua G.; Pak, Stephen C.; Zohn, Irene E.; Gurnett, Christina A.
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A novel loss-of-function KCNB1 gene variant in a twin with global developmental delay and seizures
err2024-10-14
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errManville, Rian W.; Illeck, Claire L.; Santos, Cesar; Sidlow, Richard; Abbott, Geoffrey W.
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A novel autism-associated KCNB1 mutation dramatically slows Kv2.1 potassium channel activation, deactivation and inactivation
err2024-07-29
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errOAAI
errManville, Rian W.; Block, Samantha D.; Illeck, Claire L.; Kottmeier, Jessica; Sidlow, Richard; Abbott, Geoffrey W.
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The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes
err2024-05-24
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errVos, Niels; Haghshenas, Sadegheh; van der Laan, Liselot; Russel, Perle K. M.; Rooney, Kathleen; Levy, Michael A.; Relator, Raissa; Kerkhof, Jennifer; McConkey, Haley; Maas, Saskia M.; Vissers, Lisenka E. L. M.; de Vries, Bert B. A.; Pfundt, Rolph; Elting, Mariet W.; van Hagen, Johanna M.; Verbeek, Nienke E.; Jongmans, Marjolijn C. J.; Lakeman, Phillis; Rumping, Lynne; Bosch, Danielle G. M.; Vitobello, Antonio; Thauvin-Robinet, Christel; Faivre, Laurence; Nambot, Sophie; Garde, Aurore; Willems, Marjolaine; Genevieve, David; Nicolas, Gael; Busa, Tiffany; Toutain, Annick; Gerard, Marion; Bizaoui, Varoona; Isidor, Bertrand; Merla, Giuseppe; Accadia, Maria; Schwartz, Charles E.; Ounap, Katrin; Hoffer, Mariette J. V.; Nezarati, Marjan M.; van den Boogaard, Marie-Jose H.; Tedder, Matthew L.; Rogers, Curtis; Brusco, Alfredo; Ferrero, Giovanni B.; Spodenkiewicz, Marta; Sidlow, Richard; Mussa, Alessandro; Trajkova, Slavica; McCann, Emma; Mroczkowski, Henry J.; Jansen, Sandra; Donker-Kaat, Laura; Duijkers, Floor A. M.; Stuurman, Kyra E.; Mannens, Marcel M. A. M.; Alders, Marielle; Henneman, Peter; White, Susan M.; Sadikovic, Bekim; van Haelst, Mieke M.
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Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseases
err2024-01-01
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errOAAI
errTorene, Rebecca I.; Sacoto, Maria J. Guillen; Millan, Francisca; Zhang, Zhancheng; Mcgee, Stephen; Oetjens, Matthew; Heise, Elizabeth; Chong, Karen; Sidlow, Richard; O'Grady, Lauren; Sahai, Inderneel; Martin, Christa L.; Ledbetter, David H.; Myers, Scott M.; Mitchell, Kevin J.; Retterer, Kyle
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Native American ataxia medicines rescue ataxia-linked mutant potassium channel activity via binding to the voltage sensing domain
err2023-06-06
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errOAAI
errManville, Rian W.; Freites, J. Alfredo; Sidlow, Richard; Tobias, Douglas J.; Abbott, Geoffrey W.
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The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder
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
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IBD presenting as DVT/PE and Pancreatic Atrophy/Insufficiency in an Asymptomatic Patient
err2018-05-01
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PREAI
errSharma, Aanchal; Sidlow, Richard; Romanos-Sirakis, Eleny
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