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Alison M. Muir
university of wisconsin madison
22H-index
44Paper Count
1.7KCitation Count
Published Papers 33
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The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome.png)
Genome Medicine.png)
2026-08-22
0
OAAI
Debora Tibbe; Christina Kiel; Olena Ielesicheva; Kerstin Robles de Maruri; Helia Mahboobi; Joschka Züghart; Hans-Hinrich Hönck; Christoph Meier; Fabiola Biasella; Marcela Legüe; María Francisca Lopez Avaria; Edward Blair; Tracy Lester; Benito Banos-Pinero; Jose S. Pulido; Adele Schneider; Rebecca Procopio; Chloe Quelin; Bailey J. Leal; Julian A. Martinez-Agosto; Stephanie A. Bottomley; Ágnes Till; Kinga Hadzsiev; Renata Szalai; Kathryn Nicole Weaver; Joel Fluss; Henri Margot; Berta Almoguera; Isabel Lorda-Sánchez; Lucía López-López; J. Austin Hamm; Himanshu Goel; Yasemin Alanay; Ozlem Akgun Doğan; Gulşah Şebnem Ozkose-Iyigel; Genevieve Baujat; Marion Lesieur-Sebellin; Sophie Rondeau; Katherine Schon; Joseph Christopher; Bertrand Isidor; Benjamin Cogne; Neena S. Agrawal; Ryan Dahlhauser; Yutaka Furuta; Rachel Rabin; John Pappas; Chirag Patel; Irma Järvelä; Merja Rauhala; Isabelle Schrauwen; Suzanne M. Leal; Siddharth Banka; Riya Tharakan; Céline Pebrel-Richard; Fanny Laffargue; Nelly Durand; Tristan Celse; Maja Hempel; Ilia Valentin; Andrea Gregorova; Lenka Noskova; Sara Baumgartner; Christa Überbacher; Kai Muru; Ülle Murumets; Stella Lilles; Katharina Steindl; Anita Rauch; Federica Ruscitti; Alain Verloes; Jonathan Levy; Joohyun Park; Tobias B. Haack; Ingrid Bader; Sophie Julia; Guillaume Banneau; Alison M. Muir; Davor Lessel; Hans-Jürgen Kreienkamp
Genome MedicineIF11.2
2026-08-220OAAIDebora Tibbe; Christina Kiel; Olena Ielesicheva; Kerstin Robles de Maruri; Helia Mahboobi; Joschka Züghart; Hans-Hinrich Hönck; Christoph Meier; Fabiola Biasella; Marcela Legüe; María Francisca Lopez Avaria; Edward Blair; Tracy Lester; Benito Banos-Pinero; Jose S. Pulido; Adele Schneider; Rebecca Procopio; Chloe Quelin; Bailey J. Leal; Julian A. Martinez-Agosto; Stephanie A. Bottomley; Ágnes Till; Kinga Hadzsiev; Renata Szalai; Kathryn Nicole Weaver; Joel Fluss; Henri Margot; Berta Almoguera; Isabel Lorda-Sánchez; Lucía López-López; J. Austin Hamm; Himanshu Goel; Yasemin Alanay; Ozlem Akgun Doğan; Gulşah Şebnem Ozkose-Iyigel; Genevieve Baujat; Marion Lesieur-Sebellin; Sophie Rondeau; Katherine Schon; Joseph Christopher; Bertrand Isidor; Benjamin Cogne; Neena S. Agrawal; Ryan Dahlhauser; Yutaka Furuta; Rachel Rabin; John Pappas; Chirag Patel; Irma Järvelä; Merja Rauhala; Isabelle Schrauwen; Suzanne M. Leal; Siddharth Banka; Riya Tharakan; Céline Pebrel-Richard; Fanny Laffargue; Nelly Durand; Tristan Celse; Maja Hempel; Ilia Valentin; Andrea Gregorova; Lenka Noskova; Sara Baumgartner; Christa Überbacher; Kai Muru; Ülle Murumets; Stella Lilles; Katharina Steindl; Anita Rauch; Federica Ruscitti; Alain Verloes; Jonathan Levy; Joohyun Park; Tobias B. Haack; Ingrid Bader; Sophie Julia; Guillaume Banneau; Alison M. Muir; Davor Lessel; Hans-Jürgen Kreienkamp.png){kind=icon}
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SaveA recurrent variant in PPP2R5C identified in individuals with macrocephaly, intellectual disability, and seizures2025-04-011
OAAIMuir, Alison M.; Reich, Adi; Zou, Fanggeng; Carere, Deanna Alexis; Harasink, Sue Moyer; Tran, Lily; Mcgivern, Bobbi
2025-04-011OAAIMuir, Alison M.; Reich, Adi; Zou, Fanggeng; Carere, Deanna Alexis; Harasink, Sue Moyer; Tran, Lily; Mcgivern, BobbiShareSaveComprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome2024-08-018Rots, Dmitrijs; Bouman, Arianne; Yamada, Ayumi; Levy, Michael; Dingemans, Alexander J. M.; de Vries, Bert B. A.; Ruiterkamp-Versteeg, Martina; de Leeuw, Nicole; Ockeloen, Charlotte W.; Pfundt, Rolph; de Boer, Elke; Kummeling, Joost; van Bon, Bregje; van Bokhoven, Hans; Kasri, Nael Nadif; Venselaar, Hanka; Alders, Marielle; Kerkhof, Jennifer; McConkey, Haley; Kuechler, Alma; Elffers, Bart; Calkoen, Rixje van Beeck; Hofman, Susanna; Smith, Audrey; Valenzuela, Maria Irene; Srivastava, Siddharth; Frazier, Zoe; Maystadt, Isabelle; Piscopo, Carmelo; Merla, Giuseppe; Balasubramanian, Meena; Santen, Gijs W. E.; Metcalfe, Kay; Park, Soo-Mi; Pasquier, Laurent; Banka, Siddharth; Donnai, Dian; Weisberg, Daniel; Strobl-Wildemann, Gertrud; Wagemans, Annemieke; Vreeburg, Maaike; Baralle, Diana; Foulds, Nicola; Scurr, Ingrid; Brunetti-Pierri, Nicola; van Hagen, Johanna M.; Bijlsma, Emilia K.; Hakonen, Anna H.; Courage, Carolina; Genevieve, David; Pinson, Lucile; Forzano, Francesca; Deshpande, Charu; Kluskens, Maria L.; Welling, Lindsey; Plomp, Astrid S.; Vanhoutte, Els K.; Kalsner, Louisa; Hol, Janna A.; Putoux, Audrey; Lazier, Johanna; Vasudevan, Pradeep; Ames, Elizabeth; O'Shea, Jessica; Lederer, Damien; Fleischer, Julie; O'Connor, Mary; Pauly, Melissa; Vasileiou, Georgia; Reis, Andre; Kiraly-Borri, Catherine; Bouman, Arjan; Barnett, Chris; Nezarati, Marjan; Borch, Lauren; Beunders, Gea; Ozcan, Kubra; Miot, Stephanie; Volker-Touw, Catharina M. L.; van Gassen, Koen L. I.; Cappuccio, Gerarda; Janssens, Katrien; Mor, Nofar; Shomer, Inna; Dominissini, Dan; Tedder, Matthew L.; Muir, Alison M.; Sadikovic, Bekim; Brunner, Han G.; Vissers, Lisenka E. L. M.; Shinkai, Yoichi; Kleefstra, Tjitske
2024-08-018PREAI
Rots, Dmitrijs; Bouman, Arianne; Yamada, Ayumi; Levy, Michael; Dingemans, Alexander J. M.; de Vries, Bert B. A.; Ruiterkamp-Versteeg, Martina; de Leeuw, Nicole; Ockeloen, Charlotte W.; Pfundt, Rolph; de Boer, Elke; Kummeling, Joost; van Bon, Bregje; van Bokhoven, Hans; Kasri, Nael Nadif; Venselaar, Hanka; Alders, Marielle; Kerkhof, Jennifer; McConkey, Haley; Kuechler, Alma; Elffers, Bart; Calkoen, Rixje van Beeck; Hofman, Susanna; Smith, Audrey; Valenzuela, Maria Irene; Srivastava, Siddharth; Frazier, Zoe; Maystadt, Isabelle; Piscopo, Carmelo; Merla, Giuseppe; Balasubramanian, Meena; Santen, Gijs W. E.; Metcalfe, Kay; Park, Soo-Mi; Pasquier, Laurent; Banka, Siddharth; Donnai, Dian; Weisberg, Daniel; Strobl-Wildemann, Gertrud; Wagemans, Annemieke; Vreeburg, Maaike; Baralle, Diana; Foulds, Nicola; Scurr, Ingrid; Brunetti-Pierri, Nicola; van Hagen, Johanna M.; Bijlsma, Emilia K.; Hakonen, Anna H.; Courage, Carolina; Genevieve, David; Pinson, Lucile; Forzano, Francesca; Deshpande, Charu; Kluskens, Maria L.; Welling, Lindsey; Plomp, Astrid S.; Vanhoutte, Els K.; Kalsner, Louisa; Hol, Janna A.; Putoux, Audrey; Lazier, Johanna; Vasudevan, Pradeep; Ames, Elizabeth; O'Shea, Jessica; Lederer, Damien; Fleischer, Julie; O'Connor, Mary; Pauly, Melissa; Vasileiou, Georgia; Reis, Andre; Kiraly-Borri, Catherine; Bouman, Arjan; Barnett, Chris; Nezarati, Marjan; Borch, Lauren; Beunders, Gea; Ozcan, Kubra; Miot, Stephanie; Volker-Touw, Catharina M. L.; van Gassen, Koen L. I.; Cappuccio, Gerarda; Janssens, Katrien; Mor, Nofar; Shomer, Inna; Dominissini, Dan; Tedder, Matthew L.; Muir, Alison M.; Sadikovic, Bekim; Brunner, Han G.; Vissers, Lisenka E. L. M.; Shinkai, Yoichi; Kleefstra, TjitskeShareSaveWWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality riskEPILEPSIA2023-03-119OAAIOliver, Karen L.; Trivisano, Marina; Mandelstam, Simone A.; De Dominicis, Angela; Francis, David I.; Green, Timothy E.; Muir, Alison M.; Chowdhary, Apoorva; Hertzberg, Christoph; Goldhahn, Klaus; Metreau, Julia; Prager, Christine; Pinner, Jason; Cardamone, Michael; Myers, Kenneth A.; Leventer, Richard J.; Lesca, Gaetan; Bahlo, Melanie; Hildebrand, Michael S.; Mefford, Heather C.; Kaindl, Angela M.; Specchio, Nicola; Scheffer, Ingrid E.
EPILEPSIAIF6.6
2023-03-119OAAIOliver, Karen L.; Trivisano, Marina; Mandelstam, Simone A.; De Dominicis, Angela; Francis, David I.; Green, Timothy E.; Muir, Alison M.; Chowdhary, Apoorva; Hertzberg, Christoph; Goldhahn, Klaus; Metreau, Julia; Prager, Christine; Pinner, Jason; Cardamone, Michael; Myers, Kenneth A.; Leventer, Richard J.; Lesca, Gaetan; Bahlo, Melanie; Hildebrand, Michael S.; Mefford, Heather C.; Kaindl, Angela M.; Specchio, Nicola; Scheffer, Ingrid E.ShareSaveDe novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorderGENETICS IN MEDICINE2022-12-013Sleyp, Yoeri; Valenzuela, Irene; Accogli, Andrea; Ballon, Katleen; Ben-Zeev, Bruria; Berkovic, Samuel F.; Broly, Martin; Callaerts, Patrick; Caylor, Raymond C.; Charles, Perrine; Chatron, Nicolas; Cohen, Lior; Coppola, Antonietta; Cordeiro, Dawn; Cuccurullo, Claudia; Cusco, Ivon; Cusco, Ivon; Duran-Romana, Ramon; Ekhilevitch, Nina; Fernandez-Alvarez, Paula; Gordon, Christopher T.; Isidor, Bertrand; Keren, Boris; Lesca, Gaetan; Maljaars, Jarymke; Mercimek-Andrews, Saadet; Morrow, Michelle M.; Muir, Alison M.; Rousseau, Frederic; Salpietro, Vincenzo; Scheffer, Ingrid E.; Schnur, Rhonda E.; Schymkowitz, Joost; Souche, Erika; Steyaert, Jean; Stolerman, Elliot S.; Vengoechea, Jaime; Ville, Dorothee; Washington, Camerun; Weiss, Karin; Zaid, Rinat; Sadleir, Lynette G.; Mefford, Heather C.; Peeters, Hilde
GENETICS IN MEDICINEIF6.2
2022-12-013PREAI
Sleyp, Yoeri; Valenzuela, Irene; Accogli, Andrea; Ballon, Katleen; Ben-Zeev, Bruria; Berkovic, Samuel F.; Broly, Martin; Callaerts, Patrick; Caylor, Raymond C.; Charles, Perrine; Chatron, Nicolas; Cohen, Lior; Coppola, Antonietta; Cordeiro, Dawn; Cuccurullo, Claudia; Cusco, Ivon; Cusco, Ivon; Duran-Romana, Ramon; Ekhilevitch, Nina; Fernandez-Alvarez, Paula; Gordon, Christopher T.; Isidor, Bertrand; Keren, Boris; Lesca, Gaetan; Maljaars, Jarymke; Mercimek-Andrews, Saadet; Morrow, Michelle M.; Muir, Alison M.; Rousseau, Frederic; Salpietro, Vincenzo; Scheffer, Ingrid E.; Schnur, Rhonda E.; Schymkowitz, Joost; Souche, Erika; Steyaert, Jean; Stolerman, Elliot S.; Vengoechea, Jaime; Ville, Dorothee; Washington, Camerun; Weiss, Karin; Zaid, Rinat; Sadleir, Lynette G.; Mefford, Heather C.; Peeters, HildeShareSaveBiallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsyBRAIN2022-04-0412OAAIvan der Knoop, Marieke M.; Maroofian, Reza; Fukata, Yuko; van Ierland, Yvette; Karimiani, Ehsan G.; Lehesjoki, Anna Elina; Muona, Mikko; Paetau, Anders; Miyazaki, Yuri; Hirano, Yoko; Selim, Laila; de Franca, Marina; Fock, Rodrigo Ambrosio; Beetz, Christian; Ruivenkamp, Claudia A. L.; Eaton, Alison J.; Morneau-Jacob, Francois D.; Sagi-Dain, Lena; Shemer-Meiri, Lilach; Peleg, Amir; Haddad-Halloun, Jumana; Kamphuis, Daan J.; Peeters-Scholte, Cacha M. P. C. D.; Kurul, Semra Hiz; Horvath, Rita; Lochmueller, Hanns; Murphy, David; Waldmueller, Stephan; Spranger, Stephanie; Overberg, David; Muir, Alison M.; Rad, Aboulfazl; Vona, Barbara; Abdulwahad, Firdous; Maddirevula, Sateesh; Povolotskaya, Inna S.; Voinova, Victoria Y.; Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Alkuraya, Fowzan S.; Mefford, Heather C.; Alfadhel, Majid; Haack, Tobias B.; Striano, Pasquale; Severino, Mariasavina; Fukata, Masaki; Hilhorst-Hofstee, Yvonne; Houlden, Henry
BRAINIF11.7
2022-04-0412OAAIvan der Knoop, Marieke M.; Maroofian, Reza; Fukata, Yuko; van Ierland, Yvette; Karimiani, Ehsan G.; Lehesjoki, Anna Elina; Muona, Mikko; Paetau, Anders; Miyazaki, Yuri; Hirano, Yoko; Selim, Laila; de Franca, Marina; Fock, Rodrigo Ambrosio; Beetz, Christian; Ruivenkamp, Claudia A. L.; Eaton, Alison J.; Morneau-Jacob, Francois D.; Sagi-Dain, Lena; Shemer-Meiri, Lilach; Peleg, Amir; Haddad-Halloun, Jumana; Kamphuis, Daan J.; Peeters-Scholte, Cacha M. P. C. D.; Kurul, Semra Hiz; Horvath, Rita; Lochmueller, Hanns; Murphy, David; Waldmueller, Stephan; Spranger, Stephanie; Overberg, David; Muir, Alison M.; Rad, Aboulfazl; Vona, Barbara; Abdulwahad, Firdous; Maddirevula, Sateesh; Povolotskaya, Inna S.; Voinova, Victoria Y.; Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Alkuraya, Fowzan S.; Mefford, Heather C.; Alfadhel, Majid; Haack, Tobias B.; Striano, Pasquale; Severino, Mariasavina; Fukata, Masaki; Hilhorst-Hofstee, Yvonne; Houlden, HenryShareSaveGermline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome2022-04-0120OAAIStephenson, Sarah E. M.; Costain, Gregory; Blok, Laura E. R.; Silk, Michael A.; Nguyen, Thanh Binh; Dong, Xiaomin; Alhuzaimi, Dana E.; Dowling, James J.; Walker, Susan; Amburgey, Kimberly; Hayeems, Robin Z.; Rodan, Lance H.; Schwartz, Marc A.; Picker, Jonathan; Lynch, Sally A.; Gupta, Aditi; Rasmussen, Kristen J.; Schimmenti, Lisa A.; Klee, Eric W.; Niu, Zhiyv; Agre, Katherine E.; Chilton, Ilana; Chung, Wendy K.; Revah-Politi, Anya; Au, P. Y. Billie; Griffith, Christopher; Racobaldo, Melissa; Raas-Rothschild, Annick; Ben Zeev, Bruria; Barel, Ortal; Moutton, Sebastien; Morice-Picard, Fanny; Carmignac, Virginie; Cornaton, Jenny; Marle, Nathalie; Devinsky, Orrin; Stimach, Chandler; Wechsler, Stephanie Burns; Hainline, Bryan E.; Sapp, Katie; Willems, Marjolaine; Bruel, Angeline; Dias, Kerith-Rae; Evans, Carey-Anne; Roscioli, Tony; Sachdev, Rani; Temple, Suzanna E. L.; Zhu, Ying; Baker, Joshua J.; Scheffer, Ingrid E.; Gardiner, Fiona J.; Schneider, Amy L.; Muir, Alison M.; Mefford, Heather C.; Crunk, Amy; Heise, Elizabeth M.; Millan, Francisca; Monaghan, Kristin G.; Person, Richard; Rhodes, Lindsay; Richards, Sarah; Wentzensen, Ingrid M.; Cogne, Benjamin; Isidor, Bertrand; Nizon, Mathilde; Vincent, Marie; Besnard, Thomas; Piton, Amelie; Marcelis, Carlo; Kato, Kohji; Koyama, Norihisa; Ogi, Tomoo; Goh, Elaine Suk-Ying; Richmond, Christopher; Amor, David J.; Boyce, Jessica O.; Morgan, Angela T.; Hildebrand, Michael S.; Kaspi, Antony; Bahlo, Melanie; Fridriksdottir, Run; Katrinardottir, Hildigunnur; Sulem, Patrick; Stefansson, Kari; Bjornsson, Hans Tomas; Mandelstam, Simone; Morleo, Manuela; Mariani, Milena; Scala, Marcello; Accogli, Andrea; Torella, Annalaura; Capra, Valeria; Wallis, Mathew; Jansen, Sandra; Waisfisz, Quinten; de Haan, Hugoline; Sadedin, Simon; Lim, Sze Chern; White, Susan M.; Ascher, David B.; Schenck, Annette; Lockhart, Paul J.; Christodoulou, John; Tan, Tiong Yang
2022-04-0120OAAIStephenson, Sarah E. M.; Costain, Gregory; Blok, Laura E. R.; Silk, Michael A.; Nguyen, Thanh Binh; Dong, Xiaomin; Alhuzaimi, Dana E.; Dowling, James J.; Walker, Susan; Amburgey, Kimberly; Hayeems, Robin Z.; Rodan, Lance H.; Schwartz, Marc A.; Picker, Jonathan; Lynch, Sally A.; Gupta, Aditi; Rasmussen, Kristen J.; Schimmenti, Lisa A.; Klee, Eric W.; Niu, Zhiyv; Agre, Katherine E.; Chilton, Ilana; Chung, Wendy K.; Revah-Politi, Anya; Au, P. Y. Billie; Griffith, Christopher; Racobaldo, Melissa; Raas-Rothschild, Annick; Ben Zeev, Bruria; Barel, Ortal; Moutton, Sebastien; Morice-Picard, Fanny; Carmignac, Virginie; Cornaton, Jenny; Marle, Nathalie; Devinsky, Orrin; Stimach, Chandler; Wechsler, Stephanie Burns; Hainline, Bryan E.; Sapp, Katie; Willems, Marjolaine; Bruel, Angeline; Dias, Kerith-Rae; Evans, Carey-Anne; Roscioli, Tony; Sachdev, Rani; Temple, Suzanna E. L.; Zhu, Ying; Baker, Joshua J.; Scheffer, Ingrid E.; Gardiner, Fiona J.; Schneider, Amy L.; Muir, Alison M.; Mefford, Heather C.; Crunk, Amy; Heise, Elizabeth M.; Millan, Francisca; Monaghan, Kristin G.; Person, Richard; Rhodes, Lindsay; Richards, Sarah; Wentzensen, Ingrid M.; Cogne, Benjamin; Isidor, Bertrand; Nizon, Mathilde; Vincent, Marie; Besnard, Thomas; Piton, Amelie; Marcelis, Carlo; Kato, Kohji; Koyama, Norihisa; Ogi, Tomoo; Goh, Elaine Suk-Ying; Richmond, Christopher; Amor, David J.; Boyce, Jessica O.; Morgan, Angela T.; Hildebrand, Michael S.; Kaspi, Antony; Bahlo, Melanie; Fridriksdottir, Run; Katrinardottir, Hildigunnur; Sulem, Patrick; Stefansson, Kari; Bjornsson, Hans Tomas; Mandelstam, Simone; Morleo, Manuela; Mariani, Milena; Scala, Marcello; Accogli, Andrea; Torella, Annalaura; Capra, Valeria; Wallis, Mathew; Jansen, Sandra; Waisfisz, Quinten; de Haan, Hugoline; Sadedin, Simon; Lim, Sze Chern; White, Susan M.; Ascher, David B.; Schenck, Annette; Lockhart, Paul J.; Christodoulou, John; Tan, Tiong YangShareSavePIGN encephalopathy: Characterizing the epileptologyEPILEPSIA2022-02-189OAAIBayat, Allan; Valles-Ibanez, Guillem; Pendziwiat, Manuela; Knaus, Alexej; Alt, Kerstin; Biamino, Elisa; Bley, Annette; Calvert, Sophie; Carney, Patrick; Caro-Llopis, Alfonso; Ceulemans, Berten; Cousin, Janice; Davis, Suzanne; Portes, Vincent; Edery, Patrick; England, Eleina; Ferreira, Carlos; Freeman, Jeremy; Gener, Blanca; Gorce, Magali; Heron, Delphine; Hildebrand, Michael S.; Jezela-Stanek, Aleksandra; Jouk, Pierre-Simon; Keren, Boris; Kloth, Katja; Kluger, Gerhard; Kuhn, Marius; Lemke, Johannes R.; Li, Hong; Martinez, Francisco; Maxton, Caroline; Mefford, Heather C.; Merla, Giuseppe; Mierzewska, Hanna; Muir, Alison; Monfort, Sandra; Nicolai, Joost; Norman, Jennifer; O'Grady, Gina; Oleksy, Barbara; Orellana, Carmen; Orec, Laura Elena; Peinhardt, Charlotte; Pronicka, Ewa; Rosello, Monica; Santos-Simarro, Fernando; Schwaibold, Eva Maria Christina; Stegmann, Alexander P. A.; Stumpel, Constance T.; Szczepanik, Elzbieta; Terczynska, Iwona; Thevenon, Julien; Tzschach, Andreas; Van Bogaert, Patrick; Vittorini, Roberta; Walsh, Sonja; Weckhuysen, Sarah; Weissman, Barbara; Wolfe, Lynne; Reymond, Alexandre; De Nittis, Pasquelena; Poduri, Annapurna; Olson, Heather; Striano, Pasquale; Lesca, Gaetan; Scheffer, Ingrid E.; Moller, Rikke S.; Sadleir, Lynette G.
EPILEPSIAIF6.6
2022-02-189OAAIBayat, Allan; Valles-Ibanez, Guillem; Pendziwiat, Manuela; Knaus, Alexej; Alt, Kerstin; Biamino, Elisa; Bley, Annette; Calvert, Sophie; Carney, Patrick; Caro-Llopis, Alfonso; Ceulemans, Berten; Cousin, Janice; Davis, Suzanne; Portes, Vincent; Edery, Patrick; England, Eleina; Ferreira, Carlos; Freeman, Jeremy; Gener, Blanca; Gorce, Magali; Heron, Delphine; Hildebrand, Michael S.; Jezela-Stanek, Aleksandra; Jouk, Pierre-Simon; Keren, Boris; Kloth, Katja; Kluger, Gerhard; Kuhn, Marius; Lemke, Johannes R.; Li, Hong; Martinez, Francisco; Maxton, Caroline; Mefford, Heather C.; Merla, Giuseppe; Mierzewska, Hanna; Muir, Alison; Monfort, Sandra; Nicolai, Joost; Norman, Jennifer; O'Grady, Gina; Oleksy, Barbara; Orellana, Carmen; Orec, Laura Elena; Peinhardt, Charlotte; Pronicka, Ewa; Rosello, Monica; Santos-Simarro, Fernando; Schwaibold, Eva Maria Christina; Stegmann, Alexander P. A.; Stumpel, Constance T.; Szczepanik, Elzbieta; Terczynska, Iwona; Thevenon, Julien; Tzschach, Andreas; Van Bogaert, Patrick; Vittorini, Roberta; Walsh, Sonja; Weckhuysen, Sarah; Weissman, Barbara; Wolfe, Lynne; Reymond, Alexandre; De Nittis, Pasquelena; Poduri, Annapurna; Olson, Heather; Striano, Pasquale; Lesca, Gaetan; Scheffer, Ingrid E.; Moller, Rikke S.; Sadleir, Lynette G.ShareSaveA recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay2022-01-014OAAICintron, Dianne Laboy; Muir, Alison M.; Scott, Abbey; McDonald, Marie; Monaghan, Kristin G.; Santiago-Sim, Teresa; Wentzensen, Ingrid M.; De Luca, Chiara; Brancati, Francesco; Harris, David J.; Goueli, Cecilia; Stottmann, Rolf; Prada, Carlos E.; Waberski, Marta Biderman; Mefford, Heather C.
2022-01-014OAAICintron, Dianne Laboy; Muir, Alison M.; Scott, Abbey; McDonald, Marie; Monaghan, Kristin G.; Santiago-Sim, Teresa; Wentzensen, Ingrid M.; De Luca, Chiara; Brancati, Francesco; Harris, David J.; Goueli, Cecilia; Stottmann, Rolf; Prada, Carlos E.; Waberski, Marta Biderman; Mefford, Heather C.ShareSaveAdvanced approach for comprehensive mtDNA genome testing in mitochondrial disease2022-01-016OAAIWang, Jing; Balciuniene, Jorune; Diaz-Miranda, Maria Alejandra; McCormick, Elizabeth M.; Aref-Eshghi, Erfan; Muir, Alison M.; Cao, Kajia; Troiani, Juliana; Moseley, Alicia; Fan, Zhiqian; Zolkipli-Cunningham, Zarazuela; Goldstein, Amy; Ganetzky, Rebecca D.; Muraresku, Colleen C.; Peterson, James T.; Spinner, Nancy B.; Wallace, Douglas C.; Dulik, Matthew C.; Falk, Marni J.
2022-01-016OAAIWang, Jing; Balciuniene, Jorune; Diaz-Miranda, Maria Alejandra; McCormick, Elizabeth M.; Aref-Eshghi, Erfan; Muir, Alison M.; Cao, Kajia; Troiani, Juliana; Moseley, Alicia; Fan, Zhiqian; Zolkipli-Cunningham, Zarazuela; Goldstein, Amy; Ganetzky, Rebecca D.; Muraresku, Colleen C.; Peterson, James T.; Spinner, Nancy B.; Wallace, Douglas C.; Dulik, Matthew C.; Falk, Marni J.ShareSaveRare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot (Jun, 10.1038/ s41436-021-01212-y, 2021)GENETICS IN MEDICINE2021-10-010OAAISkoric-Milosavljevic, Doris; Lahrouchi, Najim; Bosada, Fernanda M.; Dombrowsky, Gregor; Williams, Simon G.; Lesurf, Robert; Tjong, Fleur V. Y.; Walsh, Roddy; El Bouchikhi, Ihssane; Breckpot, Jeroen; Audain, Enrique; Ilgun, Aho; Beekman, Leander; Ratbi, Ilham; Strong, Alanna; Muenke, Maximilian; Heide, Solveig; Muir, Alison M.; Hababa, Mariam; Cross, Laura; Zhou, Dihong; Pastinen, Tomi; Hitz, Marc-Phillip; Hitz, Marc-Phillip; Abdul-Khaliq, Hashim; Berger, Felix; Dahnert, Ingo; Dittrich, Sven; Uebing, Anselm; Stiller, Brigitte; Zackai, Elaine; Atmani, Samir; Ouldim, Karim; Adadi, Najlae; Steindl, Katharina; Rauch, Anita; Brook, David; Wilsdon, Anna; Kuipers, Irene; Blom, Nico A.; Mulder, Barbara J.; Mefford, Heather C.; Keren, Boris; Joset, Pascal; Kruszka, Paul; Thiffault, Isabelle; Sheppard, Sarah E.; Roberts, Amy; Lodder, Elisabeth M.; Keavney, Bernard D.; Clur, Sally-Ann B.; Mital, Seema; Hitz, Marc-Philip; Christoffels, Vincent M.; Postma, Alex V.; Bezzina, Connie R.
GENETICS IN MEDICINEIF6.2
2021-10-010OAAISkoric-Milosavljevic, Doris; Lahrouchi, Najim; Bosada, Fernanda M.; Dombrowsky, Gregor; Williams, Simon G.; Lesurf, Robert; Tjong, Fleur V. Y.; Walsh, Roddy; El Bouchikhi, Ihssane; Breckpot, Jeroen; Audain, Enrique; Ilgun, Aho; Beekman, Leander; Ratbi, Ilham; Strong, Alanna; Muenke, Maximilian; Heide, Solveig; Muir, Alison M.; Hababa, Mariam; Cross, Laura; Zhou, Dihong; Pastinen, Tomi; Hitz, Marc-Phillip; Hitz, Marc-Phillip; Abdul-Khaliq, Hashim; Berger, Felix; Dahnert, Ingo; Dittrich, Sven; Uebing, Anselm; Stiller, Brigitte; Zackai, Elaine; Atmani, Samir; Ouldim, Karim; Adadi, Najlae; Steindl, Katharina; Rauch, Anita; Brook, David; Wilsdon, Anna; Kuipers, Irene; Blom, Nico A.; Mulder, Barbara J.; Mefford, Heather C.; Keren, Boris; Joset, Pascal; Kruszka, Paul; Thiffault, Isabelle; Sheppard, Sarah E.; Roberts, Amy; Lodder, Elisabeth M.; Keavney, Bernard D.; Clur, Sally-Ann B.; Mital, Seema; Hitz, Marc-Philip; Christoffels, Vincent M.; Postma, Alex V.; Bezzina, Connie R.ShareSaveRare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of FallotGENETICS IN MEDICINE2021-10-019OAAISkoric-Milosavljevic, Doris; Lahrouchi, Najim; Bosada, Fernanda M.; Dombrowsky, Gregor; Williams, Simon G.; Lesurf, Robert; Tjong, Fleur V. Y.; Walsh, Roddy; El Bouchikhi, Ihssane; Breckpot, Jeroen; Audain, Enrique; Ilgun, Aho; Beekman, Leander; Ratbi, Ilham; Strong, Alanna; Muenke, Maximilian; Heide, Solveig; Muir, Alison M.; Hababa, Mariam; Cross, Laura; Zhou, Dihong; Pastinen, Tomi; Zackai, Elaine; Atmani, Samir; Ouldim, Karim; Adadi, Najlae; Steindl, Katharina; Rauch, Anita; Brook, David; Wilsdon, Anna; Kuipers, Irene; Blom, Nico A.; Mulder, Barbara J.; Mefford, Heather C.; Keren, Boris; Joset, Pascal; Kruszka, Paul; Thiffault, Isabelle; Sheppard, Sarah E.; Roberts, Amy; Lodder, Elisabeth M.; Keavney, Bernard D.; Clur, Sally-Ann B.; Mital, Seema; Hitz, Marc-Philip; Christoffels, Vincent M.; Postma, Alex V.; Bezzina, Connie R.
GENETICS IN MEDICINEIF6.2
2021-10-019OAAISkoric-Milosavljevic, Doris; Lahrouchi, Najim; Bosada, Fernanda M.; Dombrowsky, Gregor; Williams, Simon G.; Lesurf, Robert; Tjong, Fleur V. Y.; Walsh, Roddy; El Bouchikhi, Ihssane; Breckpot, Jeroen; Audain, Enrique; Ilgun, Aho; Beekman, Leander; Ratbi, Ilham; Strong, Alanna; Muenke, Maximilian; Heide, Solveig; Muir, Alison M.; Hababa, Mariam; Cross, Laura; Zhou, Dihong; Pastinen, Tomi; Zackai, Elaine; Atmani, Samir; Ouldim, Karim; Adadi, Najlae; Steindl, Katharina; Rauch, Anita; Brook, David; Wilsdon, Anna; Kuipers, Irene; Blom, Nico A.; Mulder, Barbara J.; Mefford, Heather C.; Keren, Boris; Joset, Pascal; Kruszka, Paul; Thiffault, Isabelle; Sheppard, Sarah E.; Roberts, Amy; Lodder, Elisabeth M.; Keavney, Bernard D.; Clur, Sally-Ann B.; Mital, Seema; Hitz, Marc-Philip; Christoffels, Vincent M.; Postma, Alex V.; Bezzina, Connie R.ShareSavePathogenic MAST3 Variants in the STK Domain Are Associated with EpilepsyANNALS OF NEUROLOGY2021-07-137OAAISpinelli, Egidio; Christensen, Kyle R.; Bryant, Emily; Schneider, Amy; Rakotomamonjy, Jennifer; Muir, Alison M.; Giannelli, Jessica; Littlejohn, Rebecca O.; Roeder, Elizabeth R.; Schmidt, Berkley; Wilson, William G.; Marco, Elysa J.; Iwama, Kazuhiro; Kumada, Satoko; Pisano, Tiziana; Barba, Carmen; Vetro, Annalisa; Brilstra, Eva H.; Jaarsveld, Richard H.; Matsumoto, Naomichi; Goldberg-Stern, Hadassa; Carney, Patrick W.; Andrews, P. Ian; El Achkar, Christelle M.; Berkovic, Sam; Rodan, Lance H.; McWalter, Kirsty; Guerrini, Renzo; Scheffer, Ingrid E.; Mefford, Heather C.; Mandelstam, Simone; Laux, Linda; Millichap, John J.; Guemez-Gamboa, Alicia; Nairn, Angus C.; Carvill, Gemma L.
ANNALS OF NEUROLOGYIF7.7
2021-07-137OAAISpinelli, Egidio; Christensen, Kyle R.; Bryant, Emily; Schneider, Amy; Rakotomamonjy, Jennifer; Muir, Alison M.; Giannelli, Jessica; Littlejohn, Rebecca O.; Roeder, Elizabeth R.; Schmidt, Berkley; Wilson, William G.; Marco, Elysa J.; Iwama, Kazuhiro; Kumada, Satoko; Pisano, Tiziana; Barba, Carmen; Vetro, Annalisa; Brilstra, Eva H.; Jaarsveld, Richard H.; Matsumoto, Naomichi; Goldberg-Stern, Hadassa; Carney, Patrick W.; Andrews, P. Ian; El Achkar, Christelle M.; Berkovic, Sam; Rodan, Lance H.; McWalter, Kirsty; Guerrini, Renzo; Scheffer, Ingrid E.; Mefford, Heather C.; Mandelstam, Simone; Laux, Linda; Millichap, John J.; Guemez-Gamboa, Alicia; Nairn, Angus C.; Carvill, Gemma L.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.ShareSaveNEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patternsGENETICS IN MEDICINE2021-02-0141OAAIStamberger, Hannah; Hammer, Trine B.; Gardella, Elena; Vlaskamp, Danique R. M.; Bertelsen, Birgitte; Mandelstam, Simone; de Lange, Iris; Zhang, Jing; Myers, Candace T.; Fenger, Christina; Afawi, Zaid; Fuerte, Edith P. Almanza; Andrade, Danielle M.; Balcik, Yunus; Ben Zeev, Bruria; Bennett, Mark F.; Berkovic, Samuel F.; Isidor, Bertrand; Bouman, Arjan; Brilstra, Eva; Busk, Oyvind L.; Cairns, Anita; Caumes, Roseline; Chatron, Nicolas; Dale, Russell C.; de Geus, Christa; Edery, Patrick; Gill, Deepak; Granild-Jensen, Jacob Bie; Gunderson, Lauren; Gunning, Boudewijn; Heimer, Gali; Helle, Johan R.; Hildebrand, Michael S.; Hollingsworth, Georgie; Kharytonov, Volodymyr; Klee, Eric W.; Koeleman, Bobby P. C.; Koolen, David A.; Korff, Christian; Kury, Sebastien; Lesca, Gaetan; Lev, Dorit; Leventer, Richard J.; Mackay, Mark T.; Macke, Erica L.; McEntagart, Meriel; Mohammad, Shekeeb S.; Monin, Pauline; Montomoli, Martino; Morava, Eva; Moutton, Sebastien; Muir, Alison M.; Parrini, Elena; Procopis, Peter; Ranza, Emmanuelle; Reed, Laura; Reif, Philipp S.; Rosenow, Felix; Rossi, Massimiliano; Sadleir, Lynette G.; Sadoway, Tara; Schelhaas, Helenius J.; Schneider, Amy L.; Shah, Krati; Shalev, Ruth; Sisodiya, Sanjay M.; Smol, Thomas; Stumpel, Connie T. R. M.; Stuurman, Kyra; Symonds, Joseph D.; Mau-Them, Frederic Tran; Verbeek, Nienke; Verhoeven, Judith S.; Wallace, Geoffrey; Yosovich, Keren; Zarate, Yuri A.; Zerem, Ayelet; Zuberi, Sameer M.; Guerrini, Renzo; Mefford, Heather C.; Patel, Chirag; Zhang, Yue-Hua; Moller, Rikke S.; Scheffer, Ingrid E.
GENETICS IN MEDICINEIF6.2
2021-02-0141OAAIStamberger, Hannah; Hammer, Trine B.; Gardella, Elena; Vlaskamp, Danique R. M.; Bertelsen, Birgitte; Mandelstam, Simone; de Lange, Iris; Zhang, Jing; Myers, Candace T.; Fenger, Christina; Afawi, Zaid; Fuerte, Edith P. Almanza; Andrade, Danielle M.; Balcik, Yunus; Ben Zeev, Bruria; Bennett, Mark F.; Berkovic, Samuel F.; Isidor, Bertrand; Bouman, Arjan; Brilstra, Eva; Busk, Oyvind L.; Cairns, Anita; Caumes, Roseline; Chatron, Nicolas; Dale, Russell C.; de Geus, Christa; Edery, Patrick; Gill, Deepak; Granild-Jensen, Jacob Bie; Gunderson, Lauren; Gunning, Boudewijn; Heimer, Gali; Helle, Johan R.; Hildebrand, Michael S.; Hollingsworth, Georgie; Kharytonov, Volodymyr; Klee, Eric W.; Koeleman, Bobby P. C.; Koolen, David A.; Korff, Christian; Kury, Sebastien; Lesca, Gaetan; Lev, Dorit; Leventer, Richard J.; Mackay, Mark T.; Macke, Erica L.; McEntagart, Meriel; Mohammad, Shekeeb S.; Monin, Pauline; Montomoli, Martino; Morava, Eva; Moutton, Sebastien; Muir, Alison M.; Parrini, Elena; Procopis, Peter; Ranza, Emmanuelle; Reed, Laura; Reif, Philipp S.; Rosenow, Felix; Rossi, Massimiliano; Sadleir, Lynette G.; Sadoway, Tara; Schelhaas, Helenius J.; Schneider, Amy L.; Shah, Krati; Shalev, Ruth; Sisodiya, Sanjay M.; Smol, Thomas; Stumpel, Connie T. R. M.; Stuurman, Kyra; Symonds, Joseph D.; Mau-Them, Frederic Tran; Verbeek, Nienke; Verhoeven, Judith S.; Wallace, Geoffrey; Yosovich, Keren; Zarate, Yuri A.; Zerem, Ayelet; Zuberi, Sameer M.; Guerrini, Renzo; Mefford, Heather C.; Patel, Chirag; Zhang, Yue-Hua; Moller, Rikke S.; Scheffer, Ingrid E.ShareSaveFBXO28 causes developmental and epileptic encephalopathy with profound intellectual disabilityEPILEPSIA2020-12-0610OAAISchneider, Amy L.; Myers, Candace T.; Muir, Alison M.; Calvert, Sophie; Basinger, Alice; Perry, M. Scott; Rodan, Lance; Helbig, Katherine L.; Chambers, Chelsea; Gorman, Kathleen M.; King, Mary D.; Donkervoort, Sandra; Soldatos, Ariane; Bonnemann, Carsten G.; Spataro, Nino; Gabau, Elisabeth; Arellano, Montserrat; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Rossignol, Elsa; Hamdan, Fadi F.; Michaud, Jacques L.; Balak, Christopher; Mefford, Heather C.; Scheffer, Ingrid E.
EPILEPSIAIF6.6
2020-12-0610OAAISchneider, Amy L.; Myers, Candace T.; Muir, Alison M.; Calvert, Sophie; Basinger, Alice; Perry, M. Scott; Rodan, Lance; Helbig, Katherine L.; Chambers, Chelsea; Gorman, Kathleen M.; King, Mary D.; Donkervoort, Sandra; Soldatos, Ariane; Bonnemann, Carsten G.; Spataro, Nino; Gabau, Elisabeth; Arellano, Montserrat; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Rossignol, Elsa; Hamdan, Fadi F.; Michaud, Jacques L.; Balak, Christopher; Mefford, Heather C.; Scheffer, Ingrid E.ShareSaveBi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities2020-05-0123OAAIMuir, Alison M.; Cohen, Jennifer L.; Sheppard, Sarah E.; Guttipatti, Pavithran; Lo, Tsz Y.; Weed, Natalie; Doherty, Dan; DeMarzo, Danielle; Fagerberg, Christina R.; Kjaersgaard, Lars; Larsen, Martin J.; Rump, Patrick; Lohner, Katharina; Hirsch, Yoel; Zeevi, David A.; Zackai, Elaine H.; Bhoj, Elizabeth; Song, Yuanquan; Mefford, Heather C.
2020-05-0123OAAIMuir, Alison M.; Cohen, Jennifer L.; Sheppard, Sarah E.; Guttipatti, Pavithran; Lo, Tsz Y.; Weed, Natalie; Doherty, Dan; DeMarzo, Danielle; Fagerberg, Christina R.; Kjaersgaard, Lars; Larsen, Martin J.; Rump, Patrick; Lohner, Katharina; Hirsch, Yoel; Zeevi, David A.; Zackai, Elaine H.; Bhoj, Elizabeth; Song, Yuanquan; Mefford, Heather C.ShareSavePathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant LissencephalyNEURON2020-04-0121OAAITsai, Meng-Han; Muir, Alison M.; Wang, Won-Jing; Kang, Yi-Ning; Yang, Kun-Chuan; Chao, Nian-Hsin; Wu, Mei-Feng; Chang, Ying-Chao; Porter, Brenda E.; Jansen, Laura A.; Sebire, Guillaume; Deconinck, Nicolas; Fan, Wen-Lang; Su, Shih-Chi; Chung, Wen-Hung; Fuerte, Edith P. Almanza; Mehaffey, Michele G.; Ng, Ching-Ching; Chan, Chung-Kin; Lim, Kheng-Seang; Leventer, Richard J.; Lockhart, Paul J.; Riney, Kate; Damiano, John A.; Hildebrand, Michael S.; Mirzaa, Ghayda M.; Dobyns, William B.; Berkovic, Samuel F.; Scheffer, Ingrid E.; Tsai, Jin-Wu; Mefford, Heather C.
NEURONIF15
2020-04-0121OAAITsai, Meng-Han; Muir, Alison M.; Wang, Won-Jing; Kang, Yi-Ning; Yang, Kun-Chuan; Chao, Nian-Hsin; Wu, Mei-Feng; Chang, Ying-Chao; Porter, Brenda E.; Jansen, Laura A.; Sebire, Guillaume; Deconinck, Nicolas; Fan, Wen-Lang; Su, Shih-Chi; Chung, Wen-Hung; Fuerte, Edith P. Almanza; Mehaffey, Michele G.; Ng, Ching-Ching; Chan, Chung-Kin; Lim, Kheng-Seang; Leventer, Richard J.; Lockhart, Paul J.; Riney, Kate; Damiano, John A.; Hildebrand, Michael S.; Mirzaa, Ghayda M.; Dobyns, William B.; Berkovic, Samuel F.; Scheffer, Ingrid E.; Tsai, Jin-Wu; Mefford, Heather C.ShareSaveZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder (vol 104, pg 319, 2019)2020-01-013OAAICarapito, Raphael; Ivanova, Ekaterina L.; Morlon, Aurore; Meng, Linyan; Molitor, Anne; Erdmann, Eva; Kieffer, Bruno; Pichot, Angelique; Naegely, Lydie; Kolmer, Aline; Paul, NicodeMe; Hanauer, Antoine; Mau-Them, Frederic Tran; Jean-Marcais, Nolwenn; Hiatt, Susan M.; Cooper, Gregory M.; Tvrdik, Tatiana; Muir, Alison M.; Dimartino, Clemantine; Chopra, Maya; Amiel, Jeanne; Gordon, Christopher T.; Dutreux, Fabien; Garde, Aurore; Thauvin-Robinet, Christel; Wang, Xia; Leduc, Magalie S.; Phillips, Meredith; Crawford, Heather P.; Kukolich, Mary K.; Hunt, David; Harrison, Victoria; Kharbanda, Mira; Smigiel, Robert; Gold, Nina; Hung, Christina Y.; Viskochil, David H.; Dugan, Sarah L.; Bayrak-Toydemir, Pinar; Joly-Helas, Geraldine; Guerrot, Anne-Marie; Schluth-Bolard, Caroline; Rio, Marlene; Wentzensen, Ingrid M.; McWalter, Kirsty; Schnur, Rhonda E.; Lewis, Andrea M.; Lalani, Seema R.; Mensah-Bonsu, Noel; Ceraline, Jocelyn; Sun, Zijie; Ploski, Rafal; Bacino, Carlos A.; Mefford, Heather C.; Faivre, Laurence; Bodamer, Olaf; Chelly, Jamel; Isidor, Bertrand; Bahram, Seiamak
2020-01-013OAAICarapito, Raphael; Ivanova, Ekaterina L.; Morlon, Aurore; Meng, Linyan; Molitor, Anne; Erdmann, Eva; Kieffer, Bruno; Pichot, Angelique; Naegely, Lydie; Kolmer, Aline; Paul, NicodeMe; Hanauer, Antoine; Mau-Them, Frederic Tran; Jean-Marcais, Nolwenn; Hiatt, Susan M.; Cooper, Gregory M.; Tvrdik, Tatiana; Muir, Alison M.; Dimartino, Clemantine; Chopra, Maya; Amiel, Jeanne; Gordon, Christopher T.; Dutreux, Fabien; Garde, Aurore; Thauvin-Robinet, Christel; Wang, Xia; Leduc, Magalie S.; Phillips, Meredith; Crawford, Heather P.; Kukolich, Mary K.; Hunt, David; Harrison, Victoria; Kharbanda, Mira; Smigiel, Robert; Gold, Nina; Hung, Christina Y.; Viskochil, David H.; Dugan, Sarah L.; Bayrak-Toydemir, Pinar; Joly-Helas, Geraldine; Guerrot, Anne-Marie; Schluth-Bolard, Caroline; Rio, Marlene; Wentzensen, Ingrid M.; McWalter, Kirsty; Schnur, Rhonda E.; Lewis, Andrea M.; Lalani, Seema R.; Mensah-Bonsu, Noel; Ceraline, Jocelyn; Sun, Zijie; Ploski, Rafal; Bacino, Carlos A.; Mefford, Heather C.; Faivre, Laurence; Bodamer, Olaf; Chelly, Jamel; Isidor, Bertrand; Bahram, SeiamakShareSaveThe epileptology of GNB5 encephalopathyEPILEPSIA2019-10-2012OAAIPoke, Gemma; King, Chontelle; Muir, Alison; de Valles-Ibanez, Guillem; Germano, Michele; Moura de Souza, Carolina F.; Fung, Jasmine; Chung, Brian; Fung, Cheuk Wing; Mignot, Cyril; Ilea, Adina; Keren, Boris; Vermersch, Anne-Isabelle; Davis, Suzanne; Stanley, Thorsten; Moharir, Mahendranath; Kannu, Peter; Shao, Zhuo; Malerba, Natascia; Merla, Giuseppe; Mefford, Heather C.; Scheffer, Ingrid E.; Sadleir, Lynette G.
EPILEPSIAIF6.6
2019-10-2012OAAIPoke, Gemma; King, Chontelle; Muir, Alison; de Valles-Ibanez, Guillem; Germano, Michele; Moura de Souza, Carolina F.; Fung, Jasmine; Chung, Brian; Fung, Cheuk Wing; Mignot, Cyril; Ilea, Adina; Keren, Boris; Vermersch, Anne-Isabelle; Davis, Suzanne; Stanley, Thorsten; Moharir, Mahendranath; Kannu, Peter; Shao, Zhuo; Malerba, Natascia; Merla, Giuseppe; Mefford, Heather C.; Scheffer, Ingrid E.; Sadleir, Lynette G.ShareSaveResearch Directions
No research directions