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Shelagh Joss
Kennedy Krieger Institute
43H-index
106Paper Count
6.0KCitation Count
Published Papers 44
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New genotype-phenotype correlations and management recommendations for individuals with RERE variants.png)
Genetics in Medicine.png)
2026-04-15
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David Curtis; Xiaonan Zhao; Nichole M. Owen; Mahshid S. Azamian; Seema R. Lalani; Kierstin Keller; Alanna Strong; Joseph Shen; Colette DeFilippo; Himanshu Goel; Betsy Schmalz; Bimal P. Chaudhari; Shelagh Joss; Muge Gucsavas-Calikoglu; Yael Shiloh-Malawsky; Yezmin Perilla-Young; Olivia Thompson; Neena Champaigne; Luigi Chiriatti; Marco Ferilli
Genetics in MedicineIF6.2
2026-04-150PREAI
David Curtis; Xiaonan Zhao; Nichole M. Owen; Mahshid S. Azamian; Seema R. Lalani; Kierstin Keller; Alanna Strong; Joseph Shen; Colette DeFilippo; Himanshu Goel; Betsy Schmalz; Bimal P. Chaudhari; Shelagh Joss; Muge Gucsavas-Calikoglu; Yael Shiloh-Malawsky; Yezmin Perilla-Young; Olivia Thompson; Neena Champaigne; Luigi Chiriatti; Marco Ferilli.png){kind=icon}
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SaveThe clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder2025-10-180Dmitrijs 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
2025-10-180PREAI
Dmitrijs 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 KleefstraShareSaveDe novo and inherited variants in DDX39B cause a novel neurodevelopmental syndromeBRAIN2025-05-013Booth, Kevin T. A.; Jangam, Sharayu, V; Chui, Martin M. C.; Treat, Kayla; Graziani, Lorenzo; Soldano, Alessia; Ruan, Yao; Hui, Jeffrey Wan-Hei; White, Kerry; Christensen, Celanie K.; Lynnes, Ty; Yamamoto, Shinya; Kanca, Oguz; Tsang, Mandy H. Y.; Lynch, Sally A.; Mullegama, Sureni, V; Baptista, Julia; Iancu, Daniela; Joss, Shelagh K.; Wong, Sandra Y. Y.; Mak, Christopher C. Y.; Kwong, Anna K. Y.; Bellen, Hugo J.; Conboy, Erin; Sanges, Remo; Leung, Anskar Yu-Hung; Wangler, Michael F.; Chung, Brian H. Y.; Vetrini, Francesco
BRAINIF11.7
2025-05-013PREAI
Booth, Kevin T. A.; Jangam, Sharayu, V; Chui, Martin M. C.; Treat, Kayla; Graziani, Lorenzo; Soldano, Alessia; Ruan, Yao; Hui, Jeffrey Wan-Hei; White, Kerry; Christensen, Celanie K.; Lynnes, Ty; Yamamoto, Shinya; Kanca, Oguz; Tsang, Mandy H. Y.; Lynch, Sally A.; Mullegama, Sureni, V; Baptista, Julia; Iancu, Daniela; Joss, Shelagh K.; Wong, Sandra Y. Y.; Mak, Christopher C. Y.; Kwong, Anna K. Y.; Bellen, Hugo J.; Conboy, Erin; Sanges, Remo; Leung, Anskar Yu-Hung; Wangler, Michael F.; Chung, Brian H. Y.; Vetrini, FrancescoShareSaveWhole Genome Sequencing of Mutation-Negative Individuals With Cornelia de Lange SyndromeHUMAN MUTATION2025-01-300
OAAIAnsari, Morad; Halachev, Mihail; Parry, David; Campos, Jose L.; D'Souza, Elston N.; Barnett, Christopher; Wilkie, Andrew O. M.; Barnicoat, Angela; Patel, Chirag V.; Sukarova-Angelovska, Elena; Girisha, Katta M.; Firth, Helen V.; Prescott, Katrina; Wilson, Louise C.; Mcentagart, Meriel; Davidson, Rosemarie; Lynch, Sally Ann; Joss, Shelagh; Holden, Simon T.; Lam, Wayne K.; Sisodiya, Sanjay M.; Green, Andrew J.; Poke, Gemma; Whiffin, Nicola; Fitzpatrick, David R.; Meynert, Alison
HUMAN MUTATIONIF3.7
2025-01-300OAAIAnsari, Morad; Halachev, Mihail; Parry, David; Campos, Jose L.; D'Souza, Elston N.; Barnett, Christopher; Wilkie, Andrew O. M.; Barnicoat, Angela; Patel, Chirag V.; Sukarova-Angelovska, Elena; Girisha, Katta M.; Firth, Helen V.; Prescott, Katrina; Wilson, Louise C.; Mcentagart, Meriel; Davidson, Rosemarie; Lynch, Sally Ann; Joss, Shelagh; Holden, Simon T.; Lam, Wayne K.; Sisodiya, Sanjay M.; Green, Andrew J.; Poke, Gemma; Whiffin, Nicola; Fitzpatrick, David R.; Meynert, AlisonShareSavePOLR3B is associated with a developmental and epileptic encephalopathy with myoclonic-atonic seizures and ataxiaEPILEPSIA2024-09-300
OAAISymonds, Joseph D.; Park, Kristen L.; Mignot, Cyril; Macleod, Stewart; Armstrong, Martin; Ashrafian, Houman; Bernard, Genevieve; Brown, Kathleen; Brunklaus, Andreas; Callaghan, Mary; Classen, Georg; Cohen, Julie S.; Cutcutache, Ioana; Agathe, Jean-Madeleine de Sainte; Dyment, David; Elliot, Katherine S.; Isapof, Arnaud; Joss, Shelagh; Keren, Boris; Marble, Michael; McTague, Amy; Osmond, Matthew; Page, Matthew; Planes, Marc; Platzer, Konrad; Redon, Sylvia; Reese, James; Saenz, Margarita; Smith-Hicks, Constance; Stobo, Daniel; Stockhaus, Christian; Vuillaume, Marie-Laure; Wolf, Nicole I.; Wakeling, Emma L.; Yoon, Grace; Knight, Julian C.; Zuberi, Sameer M.
EPILEPSIAIF6.6
2024-09-300OAAISymonds, Joseph D.; Park, Kristen L.; Mignot, Cyril; Macleod, Stewart; Armstrong, Martin; Ashrafian, Houman; Bernard, Genevieve; Brown, Kathleen; Brunklaus, Andreas; Callaghan, Mary; Classen, Georg; Cohen, Julie S.; Cutcutache, Ioana; Agathe, Jean-Madeleine de Sainte; Dyment, David; Elliot, Katherine S.; Isapof, Arnaud; Joss, Shelagh; Keren, Boris; Marble, Michael; McTague, Amy; Osmond, Matthew; Page, Matthew; Planes, Marc; Platzer, Konrad; Redon, Sylvia; Reese, James; Saenz, Margarita; Smith-Hicks, Constance; Stobo, Daniel; Stockhaus, Christian; Vuillaume, Marie-Laure; Wolf, Nicole I.; Wakeling, Emma L.; Yoon, Grace; Knight, Julian C.; Zuberi, Sameer M.ShareSavePathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes2024-08-014Rots, Dmitrijs; Choufani, Sanaa; Faundes, Victor; Dingemans, Alexander J. M.; Joss, Shelagh; Foulds, Nicola; Jones, Elizabeth A.; Stewart, Sarah; Vasudevan, Pradeep; Dabir, Tabib; Park, Soo-Mi; Jewell, Rosalyn; Brown, Natasha; Pais, Lynn; Jacquemont, Sebastien; Jizi, Khadije; van Ravenswaaij-Arts, Conny M. A.; Kroes, Hester Y.; Stumpel, Constance T. R. M.; Ockeloen, Charlotte W.; Diets, Illja J.; Nizon, Mathilde; Vincent, Marie; Cogne, Benjamin; Besnard, Thomas; Kambouris, Marios; Anderson, Emily; Zackai, Elaine H.; McDougall, Carey; Donoghue, Sarah; O'Donnell-Luria, Anne; Valivullah, Zaheer; O'Leary, Melanie; Srivastava, Siddharth; Byers, Heather; Leslie, Nancy; Mazzola, Sarah; Tiller, George E.; Vera, Moin; Shen, Joseph J.; Boles, Richard; Jain, Vani; Brischoux-Boucher, Elise; Kinning, Esther; Simpson, Brittany N.; Giltay, Jacques C.; Harris, Jacqueline; Keren, Boris; Guimier, Anne; Marijon, Pierre; de Vries, Bert B. A.; Motter, Constance S.; Mendelsohn, Bryce A.; Coffino, Samantha; Gerkes, Erica H.; Afenjar, Alexandra; Visconti, Paola; Bacchelli, Elena; Maestrini, Elena; Delahaye-Duriez, Andree; Gooch, Catherine; Hendriks, Yvonne; Adams, Hieab; Thauvin-Robinet, Christel; Josephi-Taylor, Sarah; Bertoli, Marta; Parker, Michael J.; Rutten, Julie W.; Caluseriu, Oana; Vernon, Hilary J.; Kaziyev, Jonah; Zhu, Jia; Kremen, Jessica; Frazier, Zoe; Osika, Hailey; Breault, David; Nair, Sreelata; Lewis, Suzanne M. E.; Ceroni, Fabiola; Viggiano, Marta; Posar, Annio; Brittain, Helen; Giovanna, Traficante; Giulia, Gori; Quteineh, Lina; Leuchter, Russia Ha-Vinh; Zonneveld-Huijssoon, Evelien; Mellado, Cecilia; Marey, Isabelle; Coudert, Alicia; Alvarez, Mariana Ines Aracena; Kennis, Milou G. P.; Bouman, Arianne; Roifman, Maian; Rodriguez, Maria Inmaculada Amoros; Ortigoza-Escobar, Juan Dario; Vernimmen, Vivian; Sinnema, Margje; Pfundt, Rolph; Brunner, Han G.; Vissers, Lisenka E. L. M.; Kleefstra, Tjitske; Weksberg, Rosanna; Banka, Siddharth
2024-08-014PREAI
Rots, Dmitrijs; Choufani, Sanaa; Faundes, Victor; Dingemans, Alexander J. M.; Joss, Shelagh; Foulds, Nicola; Jones, Elizabeth A.; Stewart, Sarah; Vasudevan, Pradeep; Dabir, Tabib; Park, Soo-Mi; Jewell, Rosalyn; Brown, Natasha; Pais, Lynn; Jacquemont, Sebastien; Jizi, Khadije; van Ravenswaaij-Arts, Conny M. A.; Kroes, Hester Y.; Stumpel, Constance T. R. M.; Ockeloen, Charlotte W.; Diets, Illja J.; Nizon, Mathilde; Vincent, Marie; Cogne, Benjamin; Besnard, Thomas; Kambouris, Marios; Anderson, Emily; Zackai, Elaine H.; McDougall, Carey; Donoghue, Sarah; O'Donnell-Luria, Anne; Valivullah, Zaheer; O'Leary, Melanie; Srivastava, Siddharth; Byers, Heather; Leslie, Nancy; Mazzola, Sarah; Tiller, George E.; Vera, Moin; Shen, Joseph J.; Boles, Richard; Jain, Vani; Brischoux-Boucher, Elise; Kinning, Esther; Simpson, Brittany N.; Giltay, Jacques C.; Harris, Jacqueline; Keren, Boris; Guimier, Anne; Marijon, Pierre; de Vries, Bert B. A.; Motter, Constance S.; Mendelsohn, Bryce A.; Coffino, Samantha; Gerkes, Erica H.; Afenjar, Alexandra; Visconti, Paola; Bacchelli, Elena; Maestrini, Elena; Delahaye-Duriez, Andree; Gooch, Catherine; Hendriks, Yvonne; Adams, Hieab; Thauvin-Robinet, Christel; Josephi-Taylor, Sarah; Bertoli, Marta; Parker, Michael J.; Rutten, Julie W.; Caluseriu, Oana; Vernon, Hilary J.; Kaziyev, Jonah; Zhu, Jia; Kremen, Jessica; Frazier, Zoe; Osika, Hailey; Breault, David; Nair, Sreelata; Lewis, Suzanne M. E.; Ceroni, Fabiola; Viggiano, Marta; Posar, Annio; Brittain, Helen; Giovanna, Traficante; Giulia, Gori; Quteineh, Lina; Leuchter, Russia Ha-Vinh; Zonneveld-Huijssoon, Evelien; Mellado, Cecilia; Marey, Isabelle; Coudert, Alicia; Alvarez, Mariana Ines Aracena; Kennis, Milou G. P.; Bouman, Arianne; Roifman, Maian; Rodriguez, Maria Inmaculada Amoros; Ortigoza-Escobar, Juan Dario; Vernimmen, Vivian; Sinnema, Margje; Pfundt, Rolph; Brunner, Han G.; Vissers, Lisenka E. L. M.; Kleefstra, Tjitske; Weksberg, Rosanna; Banka, SiddharthShareSaveDetailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic DesignMOVEMENT DISORDERS2023-11-143OAAITolonen, Jussi Pekka; Parolin Schnekenberg, Ricardo; McGowan, Simon; Sims, David; McEntagart, Meriel; Elmslie, Frances; Shears, Debbie; Stewart, Helen; Tofaris, George K.; Dabir, Tabib; Morrison, Patrick J.; Johnson, Diana; Hadjivassiliou, Marios; Ellard, Sian; Shaw-Smith, Charles; Znaczko, Anna; Dixit, Abhijit; Suri, Mohnish; Sarkar, Ajoy; Harrison, Rachel E.; Jones, Gabriela; Houlden, Henry; Ceravolo, Giorgia; Jarvis, Joanna; Williams, Jonathan; Shanks, Morag E.; Clouston, Penny; Rankin, Julia; Blumkin, Lubov; Lerman-Sagie, Tally; Ponger, Penina; Raskin, Salmo; Granath, Katariina; Uusimaa, Johanna; Conti, Hector; McCann, Emma; Joss, Shelagh; Blakes, Alexander J. M.; Metcalfe, Kay; Kingston, Helen; Bertoli, Marta; Kneen, Rachel; Lynch, Sally Ann; Martinez Albaladejo, Inmaculada; Moore, Austen Peter; Jones, Wendy D.; Becker, Esther B. E.; Nemeth, Andrea H.
MOVEMENT DISORDERSIF7.6
2023-11-143OAAITolonen, Jussi Pekka; Parolin Schnekenberg, Ricardo; McGowan, Simon; Sims, David; McEntagart, Meriel; Elmslie, Frances; Shears, Debbie; Stewart, Helen; Tofaris, George K.; Dabir, Tabib; Morrison, Patrick J.; Johnson, Diana; Hadjivassiliou, Marios; Ellard, Sian; Shaw-Smith, Charles; Znaczko, Anna; Dixit, Abhijit; Suri, Mohnish; Sarkar, Ajoy; Harrison, Rachel E.; Jones, Gabriela; Houlden, Henry; Ceravolo, Giorgia; Jarvis, Joanna; Williams, Jonathan; Shanks, Morag E.; Clouston, Penny; Rankin, Julia; Blumkin, Lubov; Lerman-Sagie, Tally; Ponger, Penina; Raskin, Salmo; Granath, Katariina; Uusimaa, Johanna; Conti, Hector; McCann, Emma; Joss, Shelagh; Blakes, Alexander J. M.; Metcalfe, Kay; Kingston, Helen; Bertoli, Marta; Kneen, Rachel; Lynch, Sally Ann; Martinez Albaladejo, Inmaculada; Moore, Austen Peter; Jones, Wendy D.; Becker, Esther B. E.; Nemeth, Andrea H.ShareSaveClinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return2023-09-075Huth, Emily A.; Zhao, Xiaonan; Owen, Nichole; Luna, Pamela N.; Vogel, Ida; Dorf, Inger L. H.; Joss, Shelagh; Clayton-Smith, Jill; Parker, Michael J.; Louw, Jacoba J.; Gewillig, Marc; Breckpot, Jeroen; Kraus, Alison; Sasaki, Erina; Kini, Usha; Burgess, Trent; Tan, Tiong Y.; Armstrong, Ruth; Neas, Katherine; Ferrero, Giovanni B.; Brusco, Alfredo; Kerstjens-Frederikse, Wihelmina S.; Rankin, Julia; Helvaty, Lindsey R.; Landis, Benjamin J.; Geddes, Gabrielle C.; McBride, Kim L.; Ware, Stephanie M.; Shaw, Chad A.; Lalani, Seema R.; Rosenfeld, Jill A.; Scott, Daryl A.
2023-09-075PREAI
Huth, Emily A.; Zhao, Xiaonan; Owen, Nichole; Luna, Pamela N.; Vogel, Ida; Dorf, Inger L. H.; Joss, Shelagh; Clayton-Smith, Jill; Parker, Michael J.; Louw, Jacoba J.; Gewillig, Marc; Breckpot, Jeroen; Kraus, Alison; Sasaki, Erina; Kini, Usha; Burgess, Trent; Tan, Tiong Y.; Armstrong, Ruth; Neas, Katherine; Ferrero, Giovanni B.; Brusco, Alfredo; Kerstjens-Frederikse, Wihelmina S.; Rankin, Julia; Helvaty, Lindsey R.; Landis, Benjamin J.; Geddes, Gabrielle C.; McBride, Kim L.; Ware, Stephanie M.; Shaw, Chad A.; Lalani, Seema R.; Rosenfeld, Jill A.; Scott, Daryl A.ShareSaveThe clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder2023-06-0111OAAIRots, 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
2023-06-0111OAAIRots, 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, TjitskeShareSaveFunctional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental conditionMOLECULAR PSYCHIATRY2022-11-1617OAAIPalmer, Elizabeth E.; Pusch, Michael; Picollo, Alessandra; Forwood, Caitlin; Nguyen, Matthew H.; Suckow, Vanessa; Gibbons, Jessica; Hoff, Alva; Sigfrid, Lisa; Megarbane, Andre; Nizon, Mathilde; Cogne, Benjamin; Beneteau, Claire; Alkuraya, Fowzan S.; Chedrawi, Aziza; Hashem, Mais O.; Stamberger, Hannah; Weckhuysen, Sarah; Vanlander, Arnaud; Ceulemans, Berten; Rajagopalan, Sulekha; Nunn, Kenneth; Arpin, Stephanie; Raynaud, Martine; Motter, Constance S.; Ward-Melver, Catherine; Janssens, Katrien; Meuwissen, Marije; Beysen, Diane; Dikow, Nicola; Grimmel, Mona; Haack, Tobias B.; Clement, Emma; McTague, Amy; Hunt, David; Townshend, Sharron; Ward, Michelle; Richards, Linda J.; Simons, Cas; Costain, Gregory; Dupuis, Lucie; Mendoza-Londono, Roberto; Dudding-Byth, Tracy; Boyle, Jackie; Saunders, Carol; Fleming, Emily; El Chehadeh, Salima; Spitz, Marie-Aude; Piton, Amelie; Gerard, Benedicte; Warde, Marie-Therese Abi; Rea, Gillian; McKenna, Caoimhe; Douzgou, Sofia; Banka, Siddharth; Akman, Cigdem; Bain, Jennifer M.; Sands, Tristan T.; Wilson, Golder N.; Silvertooth, Erin J.; Miller, Lauren; Lederer, Damien; Sachdev, Rani; Macintosh, Rebecca; Monestier, Olivier; Karadurmus, Deniz; Collins, Felicity; Carter, Melissa; Rohena, Luis; Willemsen, Marjolein H.; Ockeloen, Charlotte W.; Pfundt, Rolph; Kroft, Sanne D.; Field, Michael; Laranjeira, Francisco E. R.; Fortuna, Ana M.; Soares, Ana R.; Michaud, Vincent; Naudion, Sophie; Golla, Sailaja; Weaver, David D.; Bird, Lynne M.; Friedman, Jennifer; Clowes, Virginia; Joss, Shelagh; Polsler, Laura; Campeau, Philippe M.; Blazo, Maria; Bijlsma, Emilia K.; Rosenfeld, Jill A.; Beetz, Christian; Powis, Zoe; McWalter, Kirsty; Brandt, Tracy; Torti, Erin; Mathot, Mikael; Mohammad, Shekeeb S.; Armstrong, Ruth; Kalscheuer, Vera M.
MOLECULAR PSYCHIATRYIF10.1
2022-11-1617OAAIPalmer, Elizabeth E.; Pusch, Michael; Picollo, Alessandra; Forwood, Caitlin; Nguyen, Matthew H.; Suckow, Vanessa; Gibbons, Jessica; Hoff, Alva; Sigfrid, Lisa; Megarbane, Andre; Nizon, Mathilde; Cogne, Benjamin; Beneteau, Claire; Alkuraya, Fowzan S.; Chedrawi, Aziza; Hashem, Mais O.; Stamberger, Hannah; Weckhuysen, Sarah; Vanlander, Arnaud; Ceulemans, Berten; Rajagopalan, Sulekha; Nunn, Kenneth; Arpin, Stephanie; Raynaud, Martine; Motter, Constance S.; Ward-Melver, Catherine; Janssens, Katrien; Meuwissen, Marije; Beysen, Diane; Dikow, Nicola; Grimmel, Mona; Haack, Tobias B.; Clement, Emma; McTague, Amy; Hunt, David; Townshend, Sharron; Ward, Michelle; Richards, Linda J.; Simons, Cas; Costain, Gregory; Dupuis, Lucie; Mendoza-Londono, Roberto; Dudding-Byth, Tracy; Boyle, Jackie; Saunders, Carol; Fleming, Emily; El Chehadeh, Salima; Spitz, Marie-Aude; Piton, Amelie; Gerard, Benedicte; Warde, Marie-Therese Abi; Rea, Gillian; McKenna, Caoimhe; Douzgou, Sofia; Banka, Siddharth; Akman, Cigdem; Bain, Jennifer M.; Sands, Tristan T.; Wilson, Golder N.; Silvertooth, Erin J.; Miller, Lauren; Lederer, Damien; Sachdev, Rani; Macintosh, Rebecca; Monestier, Olivier; Karadurmus, Deniz; Collins, Felicity; Carter, Melissa; Rohena, Luis; Willemsen, Marjolein H.; Ockeloen, Charlotte W.; Pfundt, Rolph; Kroft, Sanne D.; Field, Michael; Laranjeira, Francisco E. R.; Fortuna, Ana M.; Soares, Ana R.; Michaud, Vincent; Naudion, Sophie; Golla, Sailaja; Weaver, David D.; Bird, Lynne M.; Friedman, Jennifer; Clowes, Virginia; Joss, Shelagh; Polsler, Laura; Campeau, Philippe M.; Blazo, Maria; Bijlsma, Emilia K.; Rosenfeld, Jill A.; Beetz, Christian; Powis, Zoe; McWalter, Kirsty; Brandt, Tracy; Torti, Erin; Mathot, Mikael; Mohammad, Shekeeb S.; Armstrong, Ruth; Kalscheuer, Vera M.ShareSaveGenomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variantsGENETICS IN MEDICINE2022-11-0122OAAIKayumi, Sayaka; Perez-Jurado, Luis A.; Palomares, Maria; Rangu, Sneha; Sheppard, Sarah E.; Chung, Wendy K.; Kruer, Michael C.; Kharbanda, Mira; Amor, David J.; McGillivray, George; Cohen, Julie S.; Garcia-Minaur, Sixto; van Eyk, Clare L.; Harper, Kelly; Jolly, Lachlan A.; Webber, Dani L.; Barnett, Christopher P.; Santos-Simarro, Fernando; Pacio-Miguez, Marta; del Pozo, Angela; Bakhtiari, Somayeh; Deardorff, Matthew; Dubbs, Holly A.; Izumi, Kosuke; Grand, Katheryn; Gray, Christopher; Mark, Paul R.; Bhoj, Elizabeth J.; Li, Dong; Ortiz-Gonzalez, Xilma R.; Keena, Beth; Zackai, Elaine H.; Goldberg, Ethan M.; de Nanclares, Guiomar Perez; Pereda, Arrate; Llano-Rivas, Isabel; Arroyo, Ignacio; Fernandez-Cuesta, Maria Angeles; Thauvin-Robinet, Christel; Faivre, Laurence; Garde, Aurore; Mazel, Benoit; Bruel, Ange-Line; Tress, Michael L.; Brilstra, Eva; Fine, Amena Smith; Crompton, Kylie E.; Stegmann, Alexander P. A.; Sinnema, Margje; Stevens, Servi C. J.; Nicolai, Joost; Lesca, Gaetan; Lion-Francois, Laurence; Haye, Damien; Chatron, Nicolas; Piton, Amelie; Nizon, Mathilde; Cogne, Benjamin; Srivastava, Siddharth; Bassetti, Jennifer; Muss, Candace; Gripp, Karen W.; Procopio, Rebecca A.; Millan, Francisca; Morrow, Michelle M.; Assaf, Melissa; Moreno-De-Luca, Andres; Joss, Shelagh; Hamilton, Mark J.; Bertoli, Marta; Foulds, Nicola; McKee, Shane; MacLennan, Alastair H.; Gecz, Jozef; Corbett, Mark A.
GENETICS IN MEDICINEIF6.2
2022-11-0122OAAIKayumi, Sayaka; Perez-Jurado, Luis A.; Palomares, Maria; Rangu, Sneha; Sheppard, Sarah E.; Chung, Wendy K.; Kruer, Michael C.; Kharbanda, Mira; Amor, David J.; McGillivray, George; Cohen, Julie S.; Garcia-Minaur, Sixto; van Eyk, Clare L.; Harper, Kelly; Jolly, Lachlan A.; Webber, Dani L.; Barnett, Christopher P.; Santos-Simarro, Fernando; Pacio-Miguez, Marta; del Pozo, Angela; Bakhtiari, Somayeh; Deardorff, Matthew; Dubbs, Holly A.; Izumi, Kosuke; Grand, Katheryn; Gray, Christopher; Mark, Paul R.; Bhoj, Elizabeth J.; Li, Dong; Ortiz-Gonzalez, Xilma R.; Keena, Beth; Zackai, Elaine H.; Goldberg, Ethan M.; de Nanclares, Guiomar Perez; Pereda, Arrate; Llano-Rivas, Isabel; Arroyo, Ignacio; Fernandez-Cuesta, Maria Angeles; Thauvin-Robinet, Christel; Faivre, Laurence; Garde, Aurore; Mazel, Benoit; Bruel, Ange-Line; Tress, Michael L.; Brilstra, Eva; Fine, Amena Smith; Crompton, Kylie E.; Stegmann, Alexander P. A.; Sinnema, Margje; Stevens, Servi C. J.; Nicolai, Joost; Lesca, Gaetan; Lion-Francois, Laurence; Haye, Damien; Chatron, Nicolas; Piton, Amelie; Nizon, Mathilde; Cogne, Benjamin; Srivastava, Siddharth; Bassetti, Jennifer; Muss, Candace; Gripp, Karen W.; Procopio, Rebecca A.; Millan, Francisca; Morrow, Michelle M.; Assaf, Melissa; Moreno-De-Luca, Andres; Joss, Shelagh; Hamilton, Mark J.; Bertoli, Marta; Foulds, Nicola; McKee, Shane; MacLennan, Alastair H.; Gecz, Jozef; Corbett, Mark A.ShareSaveExpanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorderGENETICS IN MEDICINE2022-04-0114OAAIMelland, Holly; Bumbak, Fabian; Kolesnik-Taylor, Anna; Ng-Cordell, Elise; John, Abinayah; Constantinou, Panayiotis; Joss, Shelagh; Larsen, Martin; Fagerberg, Christina; Laulund, Lone Walentin; Thies, Jenny; Emslie, Frances; Willemsen, Marjolein; Kleefstra, Tjitske; Pfundt, Rolf; Barrick, Rebekah; Chang, Richard; Loong, Lucy; Alfadhel, Majid; van der Smagt, Jasper; Nizon, Mathilde; Kurian, Manju A.; Scott, Daniel J.; Ziarek, Joshua J.; Gordon, Sarah L.; Baker, Kate
GENETICS IN MEDICINEIF6.2
2022-04-0114OAAIMelland, Holly; Bumbak, Fabian; Kolesnik-Taylor, Anna; Ng-Cordell, Elise; John, Abinayah; Constantinou, Panayiotis; Joss, Shelagh; Larsen, Martin; Fagerberg, Christina; Laulund, Lone Walentin; Thies, Jenny; Emslie, Frances; Willemsen, Marjolein; Kleefstra, Tjitske; Pfundt, Rolf; Barrick, Rebekah; Chang, Richard; Loong, Lucy; Alfadhel, Majid; van der Smagt, Jasper; Nizon, Mathilde; Kurian, Manju A.; Scott, Daniel J.; Ziarek, Joshua J.; Gordon, Sarah L.; Baker, KateShareSaveEarly childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinantsBRAIN2021-10-2198OAAISymonds, Joseph D.; Elliott, Katherine S.; Shetty, Jay; Armstrong, Martin; Brunklaus, Andreas; Cutcutache, Ioana; Diver, Louise A.; Dorris, Liam; Gardiner, Sarah; Jollands, Alice; Joss, Shelagh; Kirkpatrick, Martin; McLellan, Ailsa; MacLeod, Stewart; O'Regan, Mary; Page, Matthew; Pilley, Elizabeth; Pilz, Daniela T.; Stephen, Elma; Stewart, Kirsty; Ashrafian, Houman; Knight, Julian C.; Zuberi, Sameer M.
BRAINIF11.7
2021-10-2198OAAISymonds, Joseph D.; Elliott, Katherine S.; Shetty, Jay; Armstrong, Martin; Brunklaus, Andreas; Cutcutache, Ioana; Diver, Louise A.; Dorris, Liam; Gardiner, Sarah; Jollands, Alice; Joss, Shelagh; Kirkpatrick, Martin; McLellan, Ailsa; MacLeod, Stewart; O'Regan, Mary; Page, Matthew; Pilley, Elizabeth; Pilz, Daniela T.; Stephen, Elma; Stewart, Kirsty; Ashrafian, Houman; Knight, Julian C.; Zuberi, Sameer M.ShareSaveVariants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotoniaGENETICS IN MEDICINE2021-05-0117OAAIMuir, Alison M.; Gardner, Jennifer F.; van Jaarsveld, Richard H.; de Lange, Iris M.; van der Smagt, Jasper J.; Wilson, Golder N.; Dubbs, Holly; Goldberg, Ethan M.; Zitano, Lia; Bupp, Caleb; Martinez, Jose; Srour, Myriam; Accogli, Andrea; Alhakeem, Afnan; Meltzer, Meira; Gropman, Andrea; Brewer, Carole; Caswell, Richard C.; Montgomery, Tara; McKenna, Caoimhe; McKee, Shane; Powell, Corinna; Vasudevan, Pradeep C.; Brady, Angela F.; Joss, Shelagh; Tysoe, Carolyn; Noh, Grace; Tarnopolsky, Mark; Brady, Lauren; Zafar, Muhammad; Schrier Vergano, Samantha A.; Murray, Brianna; Sawyer, Lindsey; Hainline, Bryan E.; Sapp, Katherine; DeMarzo, Danielle; Huismann, Darcy J.; Wentzensen, Ingrid M.; Schnur, Rhonda E.; Monaghan, Kristin G.; Juusola, Jane; Rhodes, Lindsay; Dobyns, William B.; Lecoquierre, Francois; Goldenberg, Alice; Polster, Tilman; Axer-Schaefer, Susanne; Platzer, Konrad; Klockner, Chiara; Hoffman, Trevor L.; MacArthur, Daniel G.; O'Leary, Melanie C.; VanNoy, Grace E.; England, Eleina; Varghese, Vinod C.; Mefford, Heather C.
GENETICS IN MEDICINEIF6.2
2021-05-0117OAAIMuir, Alison M.; Gardner, Jennifer F.; van Jaarsveld, Richard H.; de Lange, Iris M.; van der Smagt, Jasper J.; Wilson, Golder N.; Dubbs, Holly; Goldberg, Ethan M.; Zitano, Lia; Bupp, Caleb; Martinez, Jose; Srour, Myriam; Accogli, Andrea; Alhakeem, Afnan; Meltzer, Meira; Gropman, Andrea; Brewer, Carole; Caswell, Richard C.; Montgomery, Tara; McKenna, Caoimhe; McKee, Shane; Powell, Corinna; Vasudevan, Pradeep C.; Brady, Angela F.; Joss, Shelagh; Tysoe, Carolyn; Noh, Grace; Tarnopolsky, Mark; Brady, Lauren; Zafar, Muhammad; Schrier Vergano, Samantha A.; Murray, Brianna; Sawyer, Lindsey; Hainline, Bryan E.; Sapp, Katherine; DeMarzo, Danielle; Huismann, Darcy J.; Wentzensen, Ingrid M.; Schnur, Rhonda E.; Monaghan, Kristin G.; Juusola, Jane; Rhodes, Lindsay; Dobyns, William B.; Lecoquierre, Francois; Goldenberg, Alice; Polster, Tilman; Axer-Schaefer, Susanne; Platzer, Konrad; Klockner, Chiara; Hoffman, Trevor L.; MacArthur, Daniel G.; O'Leary, Melanie C.; VanNoy, Grace E.; England, Eleina; Varghese, Vinod C.; Mefford, Heather C.ShareSaveMutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction2021-02-0132OAAIden Hoed, Joery; de Boer, Elke; Voisin, Norine; Dingemans, Alexander J. M.; Guex, Nicolas; Wiel, Laurens; Nellaker, Christoffer; Amudhavalli, Shivarajan M.; Banka, Siddharth; Bena, Frederique S.; Ben-Zeev, Bruria; Bonagura, Vincent R.; Bruel, Ange-Line; Brunet, Theresa; Brunner, Han G.; Chew, Hui B.; Chrast, Jacqueline; Cimbalistiene, Loreta; Coon, Hilary; Delot, Emmanuelle C.; Demurger, Florence; Denomme-Pichon, Anne-Sophie; Depienne, Christel; Donnai, Dian; Dyment, David A.; Elpeleg, Orly; Faivre, Laurence; Gilissen, Christian; Granger, Leslie; Haber, Benjamin; Hachiya, Yasuo; Abedi, Yasmin Hamzavi; Hanebeck, Jennifer; Hehir-Kwa, Jayne Y.; Horist, Brooke; Itai, Toshiyuki; Jackson, Adam; Jewell, Rosalyn; Jones, Kelly L.; Joss, Shelagh; Kashii, Hirofumi; Kato, Mitsuhiro; Kattentidt-Mouravieva, Anja A.; Kok, Fernando; Kotzaeridou, Urania; Krishnamurthy, Vidya; Kucinskas, Vaidutis; Kuechler, Alma; Lavillaureix, Alinoe; Liu, Pengfei; Manwaring, Linda; Matsumoto, Naomichi; Mazel, Benoit; McWalter, Kirsty; Meiner, Vardiella; Mikati, Mohamad A.; Miyatake, Satoko; Mizuguchi, Takeshi; Moey, Lip H.; Mohammed, Shehla; Mor-Shaked, Hagar; Mountford, Hayley; Newbury-Ecob, Ruth; Odent, Sylvie; Orec, Laura; Osmond, Matthew; Palculict, Timothy B.; Parker, Michael; Petersen, Andrea K.; Pfundt, Rolph; Preiksaitiene, Egle; Radtke, Kelly; Ranza, Emmanuelle; Rosenfeld, Jill A.; Santiago-Sim, Teresa; Schwager, Caitlin; Sinnema, Margje; Blok, Lot Snijders; Spillmann, Rebecca C.; Stegmann, Alexander P. A.; Thiffault, Isabelle; Linh Tran; Vaknin-Dembinsky, Adi; Vedovato-dos-Santos, Juliana H.; Vergano, Samantha A. Schrier; Vilain, Eric; Vitobello, Antonio; Wagner, Matias; Waheeb, Androu; Willing, Marcia; Zuccarelli, Britton; Kini, Usha; Newbury, Dianne F.; Kleefstra, Tjitske; Reymond, Alexandre; Fisher, Simon E.; Vissers, Lisenka E. L. M.
2021-02-0132OAAIden Hoed, Joery; de Boer, Elke; Voisin, Norine; Dingemans, Alexander J. M.; Guex, Nicolas; Wiel, Laurens; Nellaker, Christoffer; Amudhavalli, Shivarajan M.; Banka, Siddharth; Bena, Frederique S.; Ben-Zeev, Bruria; Bonagura, Vincent R.; Bruel, Ange-Line; Brunet, Theresa; Brunner, Han G.; Chew, Hui B.; Chrast, Jacqueline; Cimbalistiene, Loreta; Coon, Hilary; Delot, Emmanuelle C.; Demurger, Florence; Denomme-Pichon, Anne-Sophie; Depienne, Christel; Donnai, Dian; Dyment, David A.; Elpeleg, Orly; Faivre, Laurence; Gilissen, Christian; Granger, Leslie; Haber, Benjamin; Hachiya, Yasuo; Abedi, Yasmin Hamzavi; Hanebeck, Jennifer; Hehir-Kwa, Jayne Y.; Horist, Brooke; Itai, Toshiyuki; Jackson, Adam; Jewell, Rosalyn; Jones, Kelly L.; Joss, Shelagh; Kashii, Hirofumi; Kato, Mitsuhiro; Kattentidt-Mouravieva, Anja A.; Kok, Fernando; Kotzaeridou, Urania; Krishnamurthy, Vidya; Kucinskas, Vaidutis; Kuechler, Alma; Lavillaureix, Alinoe; Liu, Pengfei; Manwaring, Linda; Matsumoto, Naomichi; Mazel, Benoit; McWalter, Kirsty; Meiner, Vardiella; Mikati, Mohamad A.; Miyatake, Satoko; Mizuguchi, Takeshi; Moey, Lip H.; Mohammed, Shehla; Mor-Shaked, Hagar; Mountford, Hayley; Newbury-Ecob, Ruth; Odent, Sylvie; Orec, Laura; Osmond, Matthew; Palculict, Timothy B.; Parker, Michael; Petersen, Andrea K.; Pfundt, Rolph; Preiksaitiene, Egle; Radtke, Kelly; Ranza, Emmanuelle; Rosenfeld, Jill A.; Santiago-Sim, Teresa; Schwager, Caitlin; Sinnema, Margje; Blok, Lot Snijders; Spillmann, Rebecca C.; Stegmann, Alexander P. A.; Thiffault, Isabelle; Linh Tran; Vaknin-Dembinsky, Adi; Vedovato-dos-Santos, Juliana H.; Vergano, Samantha A. Schrier; Vilain, Eric; Vitobello, Antonio; Wagner, Matias; Waheeb, Androu; Willing, Marcia; Zuccarelli, Britton; Kini, Usha; Newbury, Dianne F.; Kleefstra, Tjitske; Reymond, Alexandre; Fisher, Simon E.; Vissers, Lisenka E. L. M.ShareSaveThe broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunctionGENETICS IN MEDICINE2021-02-0127OAAILenaerts, Lisa; Reynhout, Sara; Verbinnen, Iris; Laumonnier, Frederic; Toutain, Annick; Bonnet-Brilhault, Frederique; Hoorne, Yana; Joss, Shelagh; Chassevent, Anna K.; Smith-Hicks, Constance; Loeys, Bart; Joset, Pascal; Steindl, Katharina; Rauch, Anita; Mehta, Sarju G.; Chung, Wendy K.; Devriendt, Koenraad; Holder, Susan E.; Jewett, Tamison; Baldwin, Lauren M.; Wilson, William G.; Towner, Shelley; Srivastava, Siddharth; Johnson, Hannah F.; Daumer-Haas, Cornelia; Baethmann, Martina; Ruiz, Anna; Gabau, Elisabeth; Jain, Vani; Varghese, Vinod; Al-Beshri, Ali; Fulton, Stephen; Wechsberg, Oded; Orenstein, Naama; Prescott, Katrina; Childs, Anne-Marie; Faivre, Laurence; Moutton, Sebastien; Sullivan, Jennifer A.; Shashi, Vandana; Koudijs, Suzanne M.; Heijligers, Malou; Kivuva, Emma; McTague, Amy; Male, Alison; van Ierland, Yvette; Plecko, Barbara; Maystadt, Isabelle; Hamid, Rizwan; Hannig, Vickie L.; Houge, Gunnar; Janssens, Veerle
GENETICS IN MEDICINEIF6.2
2021-02-0127OAAILenaerts, Lisa; Reynhout, Sara; Verbinnen, Iris; Laumonnier, Frederic; Toutain, Annick; Bonnet-Brilhault, Frederique; Hoorne, Yana; Joss, Shelagh; Chassevent, Anna K.; Smith-Hicks, Constance; Loeys, Bart; Joset, Pascal; Steindl, Katharina; Rauch, Anita; Mehta, Sarju G.; Chung, Wendy K.; Devriendt, Koenraad; Holder, Susan E.; Jewett, Tamison; Baldwin, Lauren M.; Wilson, William G.; Towner, Shelley; Srivastava, Siddharth; Johnson, Hannah F.; Daumer-Haas, Cornelia; Baethmann, Martina; Ruiz, Anna; Gabau, Elisabeth; Jain, Vani; Varghese, Vinod; Al-Beshri, Ali; Fulton, Stephen; Wechsberg, Oded; Orenstein, Naama; Prescott, Katrina; Childs, Anne-Marie; Faivre, Laurence; Moutton, Sebastien; Sullivan, Jennifer A.; Shashi, Vandana; Koudijs, Suzanne M.; Heijligers, Malou; Kivuva, Emma; McTague, Amy; Male, Alison; van Ierland, Yvette; Plecko, Barbara; Maystadt, Isabelle; Hamid, Rizwan; Hannig, Vickie L.; Houge, Gunnar; Janssens, VeerleShareSaveKAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants (vol 21, 10.1038/s41436-018-0259-2, 2019)GENETICS IN MEDICINE2020-11-010OAAIKennedy, Joanna; Goudie, David; Blair, Edward; Chandler, Kate; Joss, Shelagh; McKay, Victoria; Green, Andrew; Armstrong, Ruth; Lees, Melissa; Kamien, Benjamin; Hopper, Bruce; Tan, Tiong Yang; Yap, Patrick; Stark, Zornitza; Okamoto, Nobuhiko; Miyake, Noriko; Matsumoto, Naomichi; Macnamara, Ellen; Murphy, Jennifer L.; McCormick, Elizabeth; Hakonarson, Hakon; Falk, Marni J.; Li, Dong; Blackburn, Patrick; Klee, Eric; Babovic-Vuksanovic, Dusica; Schelley, Susan; Hudgins, Louanne; Kant, Sarina; Isidor, Bertrand; Cogne, Benjamin; Bradbury, Kimberley; Williams, Mark; Patel, Chirag; Heussler, Helen; Duff-Farrier, Celia; Lakeman, Phillis; Scurr, Ingrid; Kini, Usha; Elting, Mariet; Reijnders, Margot; Schuurs-Hoeijmakers, Janneke; Wafik, Mohamed; Blomhoff, Anne; Ruivenkamp, Claudia A. L.; Nibbeling, Esther; Dingemans, Alexander J. M.; Douine, Emilie D.; Nelson, Stanley F.; Hempel, Maja; Bierhals, Tatjana; Lessel, Davor; Johannsen, Jessika; Arboleda, Valerie A.; Newbury-Ecob, Ruth
GENETICS IN MEDICINEIF6.2
2020-11-010OAAIKennedy, Joanna; Goudie, David; Blair, Edward; Chandler, Kate; Joss, Shelagh; McKay, Victoria; Green, Andrew; Armstrong, Ruth; Lees, Melissa; Kamien, Benjamin; Hopper, Bruce; Tan, Tiong Yang; Yap, Patrick; Stark, Zornitza; Okamoto, Nobuhiko; Miyake, Noriko; Matsumoto, Naomichi; Macnamara, Ellen; Murphy, Jennifer L.; McCormick, Elizabeth; Hakonarson, Hakon; Falk, Marni J.; Li, Dong; Blackburn, Patrick; Klee, Eric; Babovic-Vuksanovic, Dusica; Schelley, Susan; Hudgins, Louanne; Kant, Sarina; Isidor, Bertrand; Cogne, Benjamin; Bradbury, Kimberley; Williams, Mark; Patel, Chirag; Heussler, Helen; Duff-Farrier, Celia; Lakeman, Phillis; Scurr, Ingrid; Kini, Usha; Elting, Mariet; Reijnders, Margot; Schuurs-Hoeijmakers, Janneke; Wafik, Mohamed; Blomhoff, Anne; Ruivenkamp, Claudia A. L.; Nibbeling, Esther; Dingemans, Alexander J. M.; Douine, Emilie D.; Nelson, Stanley F.; Hempel, Maja; Bierhals, Tatjana; Lessel, Davor; Johannsen, Jessika; Arboleda, Valerie A.; Newbury-Ecob, RuthShareSaveSCN3A-Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain MalformationANNALS OF NEUROLOGY2020-07-0955OAAIZaman, Tariq; Helbig, Katherine L.; Clatot, Jerome; Thompson, Christopher H.; Kang, Seok Kyu; Stouffs, Katrien; Jansen, Anna E.; Verstraete, Lieve; Jacquinet, Adeline; Parrini, Elena; Guerrini, Renzo; Fujiwara, Yuh; Miyatake, Satoko; Ben-Zeev, Bruria; Bassan, Haim; Reish, Orit; Marom, Daphna; Hauser, Natalie; Thuy-Anh Vu; Ackermann, Sally; Spencer, Careni E.; Lippa, Natalie; Srinivasan, Shraddha; Charzewska, Agnieszka; Hoffman-Zacharska, Dorota; Fitzpatrick, David; Harrison, Victoria; Vasudevan, Pradeep; Joss, Shelagh; Pilz, Daniela T.; Fawcett, Katherine A.; Helbig, Ingo; Matsumoto, Naomichi; Kearney, Jennifer A.; Fry, Andrew E.; Goldberg, Ethan M.
ANNALS OF NEUROLOGYIF7.7
2020-07-0955OAAIZaman, Tariq; Helbig, Katherine L.; Clatot, Jerome; Thompson, Christopher H.; Kang, Seok Kyu; Stouffs, Katrien; Jansen, Anna E.; Verstraete, Lieve; Jacquinet, Adeline; Parrini, Elena; Guerrini, Renzo; Fujiwara, Yuh; Miyatake, Satoko; Ben-Zeev, Bruria; Bassan, Haim; Reish, Orit; Marom, Daphna; Hauser, Natalie; Thuy-Anh Vu; Ackermann, Sally; Spencer, Careni E.; Lippa, Natalie; Srinivasan, Shraddha; Charzewska, Agnieszka; Hoffman-Zacharska, Dorota; Fitzpatrick, David; Harrison, Victoria; Vasudevan, Pradeep; Joss, Shelagh; Pilz, Daniela T.; Fawcett, Katherine A.; Helbig, Ingo; Matsumoto, Naomichi; Kearney, Jennifer A.; Fry, Andrew E.; Goldberg, Ethan M.ShareSaveAn intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase2020-02-2043OAAIPravata, Veronica M.; Omelkova, Michaela; Stavridis, Marios P.; Desbiens, Chelsea M.; Stephen, Hannah M.; Lefeber, Dirk J.; Gecz, Jozef; Gundogdu, Mehmet; Ounap, Katrin; Joss, Shelagh; Schwartz, Charles E.; Wells, Lance; van Aalten, Daan M. F.
2020-02-2043OAAIPravata, Veronica M.; Omelkova, Michaela; Stavridis, Marios P.; Desbiens, Chelsea M.; Stephen, Hannah M.; Lefeber, Dirk J.; Gecz, Jozef; Gundogdu, Mehmet; Ounap, Katrin; Joss, Shelagh; Schwartz, Charles E.; Wells, Lance; van Aalten, Daan M. F.ShareSaveMN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsisBRAIN2019-12-1336OAAIMak, Christopher C. Y.; Doherty, Dan; Lin, Angela E.; Vegas, Nancy; Cho, Megan T.; Viot, Geraldine; Dimartino, Clemantine; Weisfeld-Adams, James D.; Lessel, Davor; Joss, Shelagh; Li, Chumei; Gonzaga-Jauregui, Claudia; Zarate, Yuri A.; Ehmke, Nadja; Horn, Denise; Troyer, Caitlin; Kant, Sarina G.; Lee, Youngha; Ishak, Gisele E.; Leung, Gordon; Pritchard, Amanda Barone; Yang, Sandra; Bend, Eric G.; Filippini, Francesca; Roadhouse, Chelsea; Lebrun, Nicolas; Mehaffey, Michele G.; Martin, Pierre-Marie; Apple, Benjamin; Millan, Francisca; Puk, Oliver; Hoffer, Mariette J. V.; Henderson, Lindsay B.; McGowan, Ruth; Wentzensen, Ingrid M.; Pei, Steven; Zahir, Farah R.; Yu, Mullin; Gibson, William T.; Seman, Ann; Steeves, Marcie; Murrell, Jill R.; Luettgen, Sabine; Francisco, Elizabeth; Strom, Tim M.; Amlie-Wolf, Louise; Kaindl, Angela M.; Wilson, William G.; Halbach, Sara; Basel-Salmon, Lina; Lev-El, Noa; Denecke, Jonas; Vissers, Lisenka E. L. M.; Radtke, Kelly; Chelly, Jamel; Zackai, Elaine; Friedman, Jan M.; Bamshad, Michael J.; Nickerson, Deborah A.; Reid, Russell R.; Devriendt, Koenraad; Chae, Jong-Hee; Stolerman, Elliot; McDougall, Carey; Powis, Zoe; Bienvenu, Thierry; Tan, Tiong Y.; Orenstein, Naama; Dobyns, William B.; Shieh, Joseph T.; Choi, Murim; Waggoner, Darrel; Gripp, Karen W.; Parker, Michael J.; Stoler, Joan; Lyonnet, Stanislas; Cormier-Daire, Valerie; Viskochil, David; Hoffman, Trevor L.; Amiel, Jeanne; Chung, Brian H. Y.; Gordon, Christopher T.
BRAINIF11.7
2019-12-1336OAAIMak, Christopher C. Y.; Doherty, Dan; Lin, Angela E.; Vegas, Nancy; Cho, Megan T.; Viot, Geraldine; Dimartino, Clemantine; Weisfeld-Adams, James D.; Lessel, Davor; Joss, Shelagh; Li, Chumei; Gonzaga-Jauregui, Claudia; Zarate, Yuri A.; Ehmke, Nadja; Horn, Denise; Troyer, Caitlin; Kant, Sarina G.; Lee, Youngha; Ishak, Gisele E.; Leung, Gordon; Pritchard, Amanda Barone; Yang, Sandra; Bend, Eric G.; Filippini, Francesca; Roadhouse, Chelsea; Lebrun, Nicolas; Mehaffey, Michele G.; Martin, Pierre-Marie; Apple, Benjamin; Millan, Francisca; Puk, Oliver; Hoffer, Mariette J. V.; Henderson, Lindsay B.; McGowan, Ruth; Wentzensen, Ingrid M.; Pei, Steven; Zahir, Farah R.; Yu, Mullin; Gibson, William T.; Seman, Ann; Steeves, Marcie; Murrell, Jill R.; Luettgen, Sabine; Francisco, Elizabeth; Strom, Tim M.; Amlie-Wolf, Louise; Kaindl, Angela M.; Wilson, William G.; Halbach, Sara; Basel-Salmon, Lina; Lev-El, Noa; Denecke, Jonas; Vissers, Lisenka E. L. M.; Radtke, Kelly; Chelly, Jamel; Zackai, Elaine; Friedman, Jan M.; Bamshad, Michael J.; Nickerson, Deborah A.; Reid, Russell R.; Devriendt, Koenraad; Chae, Jong-Hee; Stolerman, Elliot; McDougall, Carey; Powis, Zoe; Bienvenu, Thierry; Tan, Tiong Y.; Orenstein, Naama; Dobyns, William B.; Shieh, Joseph T.; Choi, Murim; Waggoner, Darrel; Gripp, Karen W.; Parker, Michael J.; Stoler, Joan; Lyonnet, Stanislas; Cormier-Daire, Valerie; Viskochil, David; Hoffman, Trevor L.; Amiel, Jeanne; Chung, Brian H. Y.; Gordon, Christopher T.ShareSaveResearch Directions
No research directions