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Z
Zöe Powis
Harvard University
33H-index
88Paper Count
3.4KCitation Count
Published Papers 36
Publication Date
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Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants.png)
EPILEPSIA.png)
2024-07-02
1
Cuccurullo, Claudia; Irelli, Emanuele Cerulli; Ugga, Lorenzo; Riva, Antonella; D'Amico, Alessandra; Cabet, Sara; Lesca, Gaetan; Bilo, Leonilda; Zara, Federico; Iliescu, Catrinel; Barca, Diana; Fung, France; Helbig, Katherine; Ortiz-Gonzalez, Xilma; Schelhaas, Helenius J.; Willemsen, Marjolein H.; van der Linden, Inge; Canafoglia, Laura; Courage, Carolina; Gommaraschi, Samuele; Gonzalez-Alegre, Pedro; Bardakjian, Tanya; Syrbe, Steffen; Schuler, Elisabeth; Lemke, Johannes R.; Vari, Stella; Roende, Gitte; Bak, Mads; Huq, Mahbulul; Powis, Zoe; Johannesen, Katrine M.; Hammer, Trine Bjorg; Moller, Rikke S.; Rabin, Rachel; Pappas, John; Zupanc, Mary L.; Zadeh, Neda; Cohen, Julie; Naidu, Sakkubai; Krey, Ilona; Saneto, Russell; Thies, Jenny; Licchetta, Laura; Tinuper, Paolo; Bisulli, Francesca; Minardi, Raffaella; Bayat, Allan; Villeneuve, Nathalie; Molinari, Florence; Dafsari, Hormos Salimi; Moller, Birk; Le Roux, Marie; Houdayer, Clara; Vecchi, Marilena; Mammi, Isabella; Fiorini, Elena; Proietti, Jacopo; Ferri, Sofia; Cantalupo, Gaetano; Battaglia, Domenica Immacolata; Gambardella, Maria Luigia; Contaldo, Ilaria; Brogna, Claudia; Trivisano, Marina; De Dominicis, Angela; Bova, Stefania Maria; Gardella, Elena; Striano, Pasquale; Coppola, Antonietta
EPILEPSIAIF6.6
2024-07-021PREAI
Cuccurullo, Claudia; Irelli, Emanuele Cerulli; Ugga, Lorenzo; Riva, Antonella; D'Amico, Alessandra; Cabet, Sara; Lesca, Gaetan; Bilo, Leonilda; Zara, Federico; Iliescu, Catrinel; Barca, Diana; Fung, France; Helbig, Katherine; Ortiz-Gonzalez, Xilma; Schelhaas, Helenius J.; Willemsen, Marjolein H.; van der Linden, Inge; Canafoglia, Laura; Courage, Carolina; Gommaraschi, Samuele; Gonzalez-Alegre, Pedro; Bardakjian, Tanya; Syrbe, Steffen; Schuler, Elisabeth; Lemke, Johannes R.; Vari, Stella; Roende, Gitte; Bak, Mads; Huq, Mahbulul; Powis, Zoe; Johannesen, Katrine M.; Hammer, Trine Bjorg; Moller, Rikke S.; Rabin, Rachel; Pappas, John; Zupanc, Mary L.; Zadeh, Neda; Cohen, Julie; Naidu, Sakkubai; Krey, Ilona; Saneto, Russell; Thies, Jenny; Licchetta, Laura; Tinuper, Paolo; Bisulli, Francesca; Minardi, Raffaella; Bayat, Allan; Villeneuve, Nathalie; Molinari, Florence; Dafsari, Hormos Salimi; Moller, Birk; Le Roux, Marie; Houdayer, Clara; Vecchi, Marilena; Mammi, Isabella; Fiorini, Elena; Proietti, Jacopo; Ferri, Sofia; Cantalupo, Gaetano; Battaglia, Domenica Immacolata; Gambardella, Maria Luigia; Contaldo, Ilaria; Brogna, Claudia; Trivisano, Marina; De Dominicis, Angela; Bova, Stefania Maria; Gardella, Elena; Striano, Pasquale; Coppola, Antonietta.png){kind=icon}
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SavePSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production2023-05-3111
OAAIEbstein, Frederic; Kuery, Sebastien; Most, Victoria; Rosenfelt, Cory; Scott-Boyer, Marie-Pier; van Woerden, Geeske M.; Besrard, Thomas; Papendorf, Jonas Johannes; Studencka-Turski, Maja; Wang, Tianyun; Hsieh, Tzung-Chien; Golnik, Richard; Baldridge, Dustin; Forster, Cara; de Konink, Charlotte; Teurlings, Selina M. W.; Vignard, Virginie; van Jaarsveld, Richard H.; Ades, Lesley; Cogne, Benjamin; Mignot, Cyril; Deb, Wallid; Jongmans, Marjolijn C. J.; Cole, F. Sessions; van den Boogaard, Marie-Jose H.; Wambach, Jennifer A.; Wegner, Daniel J.; Yang, Sandra; Hannig, Vickie; Brault, Jennifer Ann; Zadeh, Neda; Bennetts, Bruce; Keren, Boris; Gelineau, Anne-Claire; Powis, Zoee; Towne, Meghan; Bachman, Kristine; Seeley, Andrea; Beck, Anita E.; Morrison, Jennifer; Westman, Rachel; Averill, Kelly; Brunet, Theresa; Haasters, Judith; Carter, Melissa T.; Osmond, Matthew; Wheeler, Patricia G.; Forzano, Francesca; Mohammed, Shehla; Trakadis, Yannis; Accogli, Andrea; Harrison, Rachel; Guo, Yiran; Hakonarson, Hakon; Rondeau, Sophie; Baujat, Genevieve; Barcia, Giulia; Feichtinger, Rene Guenther; Mayr, Johannes Adalbert; Preisel, Martin; Laumonnier, Frederic; Kallinich, Tilmann; Knaus, Alexej; Isidor, Bertrand; Krawitz, Peter; Voelker, Uwe; Hammer, Elke; Droit, Arnaud; Eichler, Evan E.; Elgersma, Ype; Hildebrand, Peter W.; Bolduc, Francois; Krueger, Elke; Bezieau, Stephane
2023-05-3111OAAIEbstein, Frederic; Kuery, Sebastien; Most, Victoria; Rosenfelt, Cory; Scott-Boyer, Marie-Pier; van Woerden, Geeske M.; Besrard, Thomas; Papendorf, Jonas Johannes; Studencka-Turski, Maja; Wang, Tianyun; Hsieh, Tzung-Chien; Golnik, Richard; Baldridge, Dustin; Forster, Cara; de Konink, Charlotte; Teurlings, Selina M. W.; Vignard, Virginie; van Jaarsveld, Richard H.; Ades, Lesley; Cogne, Benjamin; Mignot, Cyril; Deb, Wallid; Jongmans, Marjolijn C. J.; Cole, F. Sessions; van den Boogaard, Marie-Jose H.; Wambach, Jennifer A.; Wegner, Daniel J.; Yang, Sandra; Hannig, Vickie; Brault, Jennifer Ann; Zadeh, Neda; Bennetts, Bruce; Keren, Boris; Gelineau, Anne-Claire; Powis, Zoee; Towne, Meghan; Bachman, Kristine; Seeley, Andrea; Beck, Anita E.; Morrison, Jennifer; Westman, Rachel; Averill, Kelly; Brunet, Theresa; Haasters, Judith; Carter, Melissa T.; Osmond, Matthew; Wheeler, Patricia G.; Forzano, Francesca; Mohammed, Shehla; Trakadis, Yannis; Accogli, Andrea; Harrison, Rachel; Guo, Yiran; Hakonarson, Hakon; Rondeau, Sophie; Baujat, Genevieve; Barcia, Giulia; Feichtinger, Rene Guenther; Mayr, Johannes Adalbert; Preisel, Martin; Laumonnier, Frederic; Kallinich, Tilmann; Knaus, Alexej; Isidor, Bertrand; Krawitz, Peter; Voelker, Uwe; Hammer, Elke; Droit, Arnaud; Eichler, Evan E.; Elgersma, Ype; Hildebrand, Peter W.; Bolduc, Francois; Krueger, Elke; Bezieau, StephaneShareSaveFunctional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental conditionMOLECULAR PSYCHIATRY2022-11-1617
OAAIPalmer, 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.ShareSavePhenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasisBRAIN2022-06-0916OAAIGuerrini, Renzof; Mei, Davide; Kerti-Szigeti, Katalin; Pepe, Sara; Koenig, Mary Kay; Von Allmen, Gretchen; Cho, Megan T.; McDonald, Kimberly; Baker, Janice; Bhambhani, Vikas; Powis, Zoe; Rodan, Lance; Nabbout, Rima; Barcia, Giulia; Rosenfeld, Jill A.; Bacino, Carlos A.; Mignot, Cyril; Power, Lillian H.; Harris, Catharine J.; Marjanovic, Dragan; Moller, Rikke S.; Hammer, Trine B.; Keski Filppula, Riikka; Vieira, Paivi; Hildebrandt, Clara; Sacharow, Stephanie; Maragliano, Luca; Benfenati, Fabio; Lachlan, Katherine; Benneche, Andreas; Petit, Florence; de Sainte Agathe, Jean-Madeleine; Hallinan, Barbara; Si, Yue; Wentzensen, Ingrid M.; Zou, Fanggeng; Narayanan, Vinodh; Matsumoto, Naomichi; Boncristiano, Alessandra; la Marca, Giancarlo; Kato, Mitsuhiro; Anderson, Kristin; Barba, Carmen; Sturiale, Luisa; Garozzo, Domenico; Bei, Roberto; Masuelli, Laura; Conti, Valerio; Novarino, Gaia; Fassio, Anna
BRAINIF11.7
2022-06-0916OAAIGuerrini, Renzof; Mei, Davide; Kerti-Szigeti, Katalin; Pepe, Sara; Koenig, Mary Kay; Von Allmen, Gretchen; Cho, Megan T.; McDonald, Kimberly; Baker, Janice; Bhambhani, Vikas; Powis, Zoe; Rodan, Lance; Nabbout, Rima; Barcia, Giulia; Rosenfeld, Jill A.; Bacino, Carlos A.; Mignot, Cyril; Power, Lillian H.; Harris, Catharine J.; Marjanovic, Dragan; Moller, Rikke S.; Hammer, Trine B.; Keski Filppula, Riikka; Vieira, Paivi; Hildebrandt, Clara; Sacharow, Stephanie; Maragliano, Luca; Benfenati, Fabio; Lachlan, Katherine; Benneche, Andreas; Petit, Florence; de Sainte Agathe, Jean-Madeleine; Hallinan, Barbara; Si, Yue; Wentzensen, Ingrid M.; Zou, Fanggeng; Narayanan, Vinodh; Matsumoto, Naomichi; Boncristiano, Alessandra; la Marca, Giancarlo; Kato, Mitsuhiro; Anderson, Kristin; Barba, Carmen; Sturiale, Luisa; Garozzo, Domenico; Bei, Roberto; Masuelli, Laura; Conti, Valerio; Novarino, Gaia; Fassio, AnnaShareSaveRecurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome2022-04-0114OAAITessadori, Federico; Duran, Karen; Knapp, Karen; Fellner, Matthias; Smithson, Sarah; Meireles, Ana Beleza; Elting, Mariet W.; Waisfisz, Quinten; O'Donnell-Luria, Anne; Nowak, Catherine; Douglas, Jessica; Ronan, Anne; Brunet, Theresa; Kotzaeridou, Urania; Svihovec, Shayna; Saenz, Margarita S.; Thiffault, Isabelle; Del Viso, Florencia; Devine, Patrick; Rego, Shannon; Tenney, Jessica; van Haeringen, Arie; Ruivenkamp, Claudia A. L.; Koene, Saskia; Robertson, Stephen P.; Deshpande, Charulata; Pfundt, Rolph; Verbeek, Nienke; van de Kamp, Jiddeke M.; Weiss, Janneke M. M.; Ruiz, Anna; Gabau, Elisabeth; Banne, Ehud; Pepler, Alexander; Bottani, Armand; Laurent, Sacha; Guipponi, Michel; Bijlsma, Emilia; Bruel, Ange-Line; Sorlin, Arthur; Willis, Mary; Powis, Zoe; Smol, Thomas; Vincent-Delorme, Catherine; Baralle, Diana; Colin, Estelle; Revencu, Nicole; Calpena, Eduardo; Wilkie, Andrew O. M.; Chopra, Maya; Cormier-Daire, Valerie; Keren, Boris; Afenjar, Alexandra; Niceta, Marcello; Terracciano, Alessandra; Specchio, Nicola; Tartaglia, Marco; Rio, Marlene; Barcia, Giulia; Rondeau, Sophie; Colson, Cindy; Bakkers, Jeroen; Mace, Peter D.; Bicknell, Louise S.; van Haaften, Gijs
2022-04-0114OAAITessadori, Federico; Duran, Karen; Knapp, Karen; Fellner, Matthias; Smithson, Sarah; Meireles, Ana Beleza; Elting, Mariet W.; Waisfisz, Quinten; O'Donnell-Luria, Anne; Nowak, Catherine; Douglas, Jessica; Ronan, Anne; Brunet, Theresa; Kotzaeridou, Urania; Svihovec, Shayna; Saenz, Margarita S.; Thiffault, Isabelle; Del Viso, Florencia; Devine, Patrick; Rego, Shannon; Tenney, Jessica; van Haeringen, Arie; Ruivenkamp, Claudia A. L.; Koene, Saskia; Robertson, Stephen P.; Deshpande, Charulata; Pfundt, Rolph; Verbeek, Nienke; van de Kamp, Jiddeke M.; Weiss, Janneke M. M.; Ruiz, Anna; Gabau, Elisabeth; Banne, Ehud; Pepler, Alexander; Bottani, Armand; Laurent, Sacha; Guipponi, Michel; Bijlsma, Emilia; Bruel, Ange-Line; Sorlin, Arthur; Willis, Mary; Powis, Zoe; Smol, Thomas; Vincent-Delorme, Catherine; Baralle, Diana; Colin, Estelle; Revencu, Nicole; Calpena, Eduardo; Wilkie, Andrew O. M.; Chopra, Maya; Cormier-Daire, Valerie; Keren, Boris; Afenjar, Alexandra; Niceta, Marcello; Terracciano, Alessandra; Specchio, Nicola; Tartaglia, Marco; Rio, Marlene; Barcia, Giulia; Rondeau, Sophie; Colson, Cindy; Bakkers, Jeroen; Mace, Peter D.; Bicknell, Louise S.; van Haaften, GijsShareSaveGenetic testing for spinocerebellar ataxias in pediatric patientsGENETICS IN MEDICINE2022-03-010OAAIPowis, Zoe; Meservey, Marc; Liaquat, Khalida; Partack, Emily; Batish, Sat Dev
GENETICS IN MEDICINEIF6.2
2022-03-010OAAIPowis, Zoe; Meservey, Marc; Liaquat, Khalida; Partack, Emily; Batish, Sat DevShareSaveDe novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability2021-12-1516OAAISchalk, Audrey; Cousin, Margot A.; Challman, Thomas D.; Wain, Karen E.; Powis, Zoe; Minks, Kelly; Trimouille, Aurelien; Lasseaux, Eulalie; Lacombre, Didier; Angelini, Chloe; Michaud, Vincent; Van-Gils, Julien; Spataro, Nino; Ruiz, Anna; Gabau, Elizabeth; Stolerman, Elliot; Washington, Camerun; Louie, Raymond J.; Lanpher, Brendan C.; Kemppainen, Jennifer L.; Innes, A. Micheil; Kooy, R. Frank; Meuwissen, Marije; Goldenberg, Alice; Lecoquierre, Francois; Vera, Gabriella; Diderich, Karin E. M.; Sheidley, Beth Rosen; El Achkar, Christelle Moufawad; Park, Meredith; Hamdan, Fadi F.; Michaud, Jacques L.; Lewis, Ann J.; Zweier, Christiane; Reis, Andre; Wagner, Matias; Weigand, Heike; Journel, Hubert; Keren, Boris; Passemard, Sandrine; Mignot, Cyril; van Gassen, Koen L., I; Brilstra, Eva H.; Itzikowitz, Gina; O'Heir, Emily; Allen, Jake; Donald, Kirsten A.; Korf, Bruce R.; Skelton, Tammi; Thompson, Michelle L.; Robin, Nathaniel H.; Rudy, Natasha; Dobyns, William B.; Foss, Kimberly; Zarate, Yuri A.; Bosanko, Katherine A.; Alembik, Yves; Durand, Benjamin; Mau-them, Frederic Tran; Ranza, Emmanuelle; Blanc, Xavier; Antonarakis, Stylianos E.; McWalter, Kirsty; Torti, Erin; Millan, Francisca; Dameron, Amy; Tokita, Mari J.; Zimmermann, Michael T.; Klee, Eric W.; Piton, Amelie; Gerard, Benedicte
2021-12-1516OAAISchalk, Audrey; Cousin, Margot A.; Challman, Thomas D.; Wain, Karen E.; Powis, Zoe; Minks, Kelly; Trimouille, Aurelien; Lasseaux, Eulalie; Lacombre, Didier; Angelini, Chloe; Michaud, Vincent; Van-Gils, Julien; Spataro, Nino; Ruiz, Anna; Gabau, Elizabeth; Stolerman, Elliot; Washington, Camerun; Louie, Raymond J.; Lanpher, Brendan C.; Kemppainen, Jennifer L.; Innes, A. Micheil; Kooy, R. Frank; Meuwissen, Marije; Goldenberg, Alice; Lecoquierre, Francois; Vera, Gabriella; Diderich, Karin E. M.; Sheidley, Beth Rosen; El Achkar, Christelle Moufawad; Park, Meredith; Hamdan, Fadi F.; Michaud, Jacques L.; Lewis, Ann J.; Zweier, Christiane; Reis, Andre; Wagner, Matias; Weigand, Heike; Journel, Hubert; Keren, Boris; Passemard, Sandrine; Mignot, Cyril; van Gassen, Koen L., I; Brilstra, Eva H.; Itzikowitz, Gina; O'Heir, Emily; Allen, Jake; Donald, Kirsten A.; Korf, Bruce R.; Skelton, Tammi; Thompson, Michelle L.; Robin, Nathaniel H.; Rudy, Natasha; Dobyns, William B.; Foss, Kimberly; Zarate, Yuri A.; Bosanko, Katherine A.; Alembik, Yves; Durand, Benjamin; Mau-them, Frederic Tran; Ranza, Emmanuelle; Blanc, Xavier; Antonarakis, Stylianos E.; McWalter, Kirsty; Torti, Erin; Millan, Francisca; Dameron, Amy; Tokita, Mari J.; Zimmermann, Michael T.; Klee, Eric W.; Piton, Amelie; Gerard, BenedicteShareSaveATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyriaBRAIN2021-05-1040OAAIVetro, Annalisa; Nielsen, Hang N.; Holm, Rikke; Hevner, Robert F.; Parrini, Elena; Powis, Zoe; Moller, Rikke S.; Bellan, Cristina; Simonati, Alessandro; Lesca, Gaetan; Helbig, Katherine L.; Palmer, Elizabeth E.; Mei, Davide; Ballardini, Elisa; Van Haeringen, Arie; Syrbe, Steffen; Leuzzi, Vincenzo; Cioni, Giovanni; Curry, Cynthia J.; Costain, Gregory; Santucci, Margherita; Chong, Karen; Mancini, Grazia M. S.; Clayton-Smith, Jill; Bigoni, Stefania; Scheffer, Ingrid E.; Dobyns, William B.; Vilsen, Bente; Guerrini, Renzo
BRAINIF11.7
2021-05-1040OAAIVetro, Annalisa; Nielsen, Hang N.; Holm, Rikke; Hevner, Robert F.; Parrini, Elena; Powis, Zoe; Moller, Rikke S.; Bellan, Cristina; Simonati, Alessandro; Lesca, Gaetan; Helbig, Katherine L.; Palmer, Elizabeth E.; Mei, Davide; Ballardini, Elisa; Van Haeringen, Arie; Syrbe, Steffen; Leuzzi, Vincenzo; Cioni, Giovanni; Curry, Cynthia J.; Costain, Gregory; Santucci, Margherita; Chong, Karen; Mancini, Grazia M. S.; Clayton-Smith, Jill; Bigoni, Stefania; Scheffer, Ingrid E.; Dobyns, William B.; Vilsen, Bente; Guerrini, RenzoShareSaveHistone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patientsSCIENCE ADVANCES2020-12-0451OAAIBryant, Laura; Li, Dong; Cox, Samuel G.; Marchione, Dylan; Joiner, Evan F.; Wilson, Khadija; Janssen, Kevin; Lee, Pearl; March, Michael E.; Nair, Divya; Sherr, Elliott; Fregeau, Brieana; Wierenga, Klaas J.; Wadley, Alexandrea; Mancini, Grazia M. S.; Powell-Hamilton, Nina; van de Kamp, Jiddeke; Grebe, Theresa; Dean, John; Ross, Alison; Crawford, Heather P.; Powis, Zoe; Cho, Megan T.; Willing, Marcia C.; Manwaring, Linda; Schot, Rachel; Nava, Caroline; Afenjar, Alexandra; Lessel, Davor; Wagner, Matias; Klopstock, Thomas; Winkelmann, Juliane; Catarino, Claudia B.; Retterer, Kyle; Schuette, Jane L.; Innis, Jeffrey W.; Pizzino, Amy; Luttgen, Sabine; Denecke, Jonas; Strom, Tim M.; Monaghan, Kristin G.; Yuan, Zuo-Fei; Dubbs, Holly; Bend, Renee; Lee, Jennifer A.; Lyons, Michael J.; Hoefele, Julia; Gunthner, Roman; Reutter, Heiko; Keren, Boris; Radtke, Kelly; Sherbini, Omar; Mrokse, Cameron; Helbig, Katherine L.; Odent, Sylvie; Cogne, Benjamin; Mercier, Sandra; Bezieau, Stephane; Besnard, Thomas; Kury, Sebastien; Redon, Richard; Reinson, Karit; Wojcik, Monica H.; Ounap, Katrin; Ilves, Pilvi; Innes, A. Micheil; Kernohan, Kristin D.; Costain, Gregory; Meyn, M. Stephen; Chitayat, David; Zackai, Elaine; Lehman, Anna; Kitson, Hilary; Martin, Martin G.; Martinez-Agosto, Julian A.; Nelson, Stan F.; Palmer, Christina G. S.; Papp, Jeanette C.; Parker, Neil H.; Sinsheimer, Janet S.; Vilain, Eric; Wan, Jijun; Yoon, Amanda J.; Zheng, Allison; Brimble, Elise; Ferrero, Giovanni Battista; Radio, Francesca Clementina; Carli, Diana; Barresi, Sabina; Brusco, Alfredo; Tartaglia, Marco; Thomas, Jennifer Muncy; Umana, Luis; Weiss, Marjan M.; Gotway, Garrett; Stuurman, K. E.; Thompson, Michelle L.; McWalter, Kirsty; Stumpel, Constance T. R. M.; Stevens, Servi J. C.; Stegmann, Alexander P. A.; Tveten, Kristian; Vollo, Arve; Prescott, Trine; Fagerberg, Christina; Laulund, Lone Walentin; Larsen, Martin J.; Byler, Melissa; Lebel, Robert Roger; Hurst, Anna C.; Dean, Joy; Vergano, Samantha A. Schrier; Norman, Jennifer; Mercimek-Andrews, Saadet; Neira, Juanita; Van Allen, Margot, I; Longo, Nicola; Sellars, Elizabeth; Louie, Raymond J.; Cathey, Sara S.; Brokamp, Elly; Heron, Delphine; Snyder, Molly; Vanderver, Adeline; Simon, Celeste; de la Cruz, Xavier; Padilla, Natalia; Crump, J. Gage; Chung, Wendy; Garcia, Benjamin; Hakonarson, Hakon H.; Bhoj, Elizabeth J.
SCIENCE ADVANCESIF12.5
2020-12-0451OAAIBryant, Laura; Li, Dong; Cox, Samuel G.; Marchione, Dylan; Joiner, Evan F.; Wilson, Khadija; Janssen, Kevin; Lee, Pearl; March, Michael E.; Nair, Divya; Sherr, Elliott; Fregeau, Brieana; Wierenga, Klaas J.; Wadley, Alexandrea; Mancini, Grazia M. S.; Powell-Hamilton, Nina; van de Kamp, Jiddeke; Grebe, Theresa; Dean, John; Ross, Alison; Crawford, Heather P.; Powis, Zoe; Cho, Megan T.; Willing, Marcia C.; Manwaring, Linda; Schot, Rachel; Nava, Caroline; Afenjar, Alexandra; Lessel, Davor; Wagner, Matias; Klopstock, Thomas; Winkelmann, Juliane; Catarino, Claudia B.; Retterer, Kyle; Schuette, Jane L.; Innis, Jeffrey W.; Pizzino, Amy; Luttgen, Sabine; Denecke, Jonas; Strom, Tim M.; Monaghan, Kristin G.; Yuan, Zuo-Fei; Dubbs, Holly; Bend, Renee; Lee, Jennifer A.; Lyons, Michael J.; Hoefele, Julia; Gunthner, Roman; Reutter, Heiko; Keren, Boris; Radtke, Kelly; Sherbini, Omar; Mrokse, Cameron; Helbig, Katherine L.; Odent, Sylvie; Cogne, Benjamin; Mercier, Sandra; Bezieau, Stephane; Besnard, Thomas; Kury, Sebastien; Redon, Richard; Reinson, Karit; Wojcik, Monica H.; Ounap, Katrin; Ilves, Pilvi; Innes, A. Micheil; Kernohan, Kristin D.; Costain, Gregory; Meyn, M. Stephen; Chitayat, David; Zackai, Elaine; Lehman, Anna; Kitson, Hilary; Martin, Martin G.; Martinez-Agosto, Julian A.; Nelson, Stan F.; Palmer, Christina G. S.; Papp, Jeanette C.; Parker, Neil H.; Sinsheimer, Janet S.; Vilain, Eric; Wan, Jijun; Yoon, Amanda J.; Zheng, Allison; Brimble, Elise; Ferrero, Giovanni Battista; Radio, Francesca Clementina; Carli, Diana; Barresi, Sabina; Brusco, Alfredo; Tartaglia, Marco; Thomas, Jennifer Muncy; Umana, Luis; Weiss, Marjan M.; Gotway, Garrett; Stuurman, K. E.; Thompson, Michelle L.; McWalter, Kirsty; Stumpel, Constance T. R. M.; Stevens, Servi J. C.; Stegmann, Alexander P. A.; Tveten, Kristian; Vollo, Arve; Prescott, Trine; Fagerberg, Christina; Laulund, Lone Walentin; Larsen, Martin J.; Byler, Melissa; Lebel, Robert Roger; Hurst, Anna C.; Dean, Joy; Vergano, Samantha A. Schrier; Norman, Jennifer; Mercimek-Andrews, Saadet; Neira, Juanita; Van Allen, Margot, I; Longo, Nicola; Sellars, Elizabeth; Louie, Raymond J.; Cathey, Sara S.; Brokamp, Elly; Heron, Delphine; Snyder, Molly; Vanderver, Adeline; Simon, Celeste; de la Cruz, Xavier; Padilla, Natalia; Crump, J. Gage; Chung, Wendy; Garcia, Benjamin; Hakonarson, Hakon H.; Bhoj, Elizabeth J.ShareSaveA second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome2020-06-0130OAAIDrivas, Theodore G.; Li, Dong; Nair, Divya; Alaimo, Joseph T.; Alders, Marielle; Altmueller, Janine; Barakat, Tahsin Stefan; Bebin, E. Martina; Bertsch, Nicole L.; Blackburn, Patrick R.; Blesson, Alyssa; Bouman, Arjan M.; Brockmann, Knut; Brunelle, Perrine; Burmeister, Margit; Cooper, Gregory M.; Denecke, Jonas; Dieux-Coeslier, Anne; Dubbs, Holly; Ferrer, Alejandro; Gal, Danna; Bartik, Lauren E.; Gunderson, Lauren B.; Hasadsri, Linda; Jain, Mahim; Karimov, Catherine; Keena, Beth; Klee, Eric W.; Kloth, Katja; Lace, Baiba; Macchiaiolo, Marina; Marcadier, Julien L.; Milunsky, Jeff M.; Napier, Melanie P.; Ortiz-Gonzalez, Xilma R.; Pichurin, Pavel N.; Pinner, Jason; Powis, Zoe; Prasad, Chitra; Radio, Francesca Clementina; Rasmussen, Kristen J.; Renaud, Deborah L.; Rush, Eric T.; Saunders, Carol; Selcen, Duygu; Seman, Ann R.; Shinde, Deepali N.; Smith, Erica D.; Smol, Thomas; Blok, Lot Snijders; Stoler, Joan M.; Tang, Sha; Tartaglia, Marco; Thompson, Michelle L.; van de Kamp, Jiddeke M.; Wang, Jingmin; Weise, Dagmar; Weiss, Karin; Woitschach, Rixa; Wollnik, Bernd; Yan, Huifang; Zackai, Elaine H.; Zampino, Giuseppe; Campeau, Philippe; Bhoj, Elizabeth
2020-06-0130OAAIDrivas, Theodore G.; Li, Dong; Nair, Divya; Alaimo, Joseph T.; Alders, Marielle; Altmueller, Janine; Barakat, Tahsin Stefan; Bebin, E. Martina; Bertsch, Nicole L.; Blackburn, Patrick R.; Blesson, Alyssa; Bouman, Arjan M.; Brockmann, Knut; Brunelle, Perrine; Burmeister, Margit; Cooper, Gregory M.; Denecke, Jonas; Dieux-Coeslier, Anne; Dubbs, Holly; Ferrer, Alejandro; Gal, Danna; Bartik, Lauren E.; Gunderson, Lauren B.; Hasadsri, Linda; Jain, Mahim; Karimov, Catherine; Keena, Beth; Klee, Eric W.; Kloth, Katja; Lace, Baiba; Macchiaiolo, Marina; Marcadier, Julien L.; Milunsky, Jeff M.; Napier, Melanie P.; Ortiz-Gonzalez, Xilma R.; Pichurin, Pavel N.; Pinner, Jason; Powis, Zoe; Prasad, Chitra; Radio, Francesca Clementina; Rasmussen, Kristen J.; Renaud, Deborah L.; Rush, Eric T.; Saunders, Carol; Selcen, Duygu; Seman, Ann R.; Shinde, Deepali N.; Smith, Erica D.; Smol, Thomas; Blok, Lot Snijders; Stoler, Joan M.; Tang, Sha; Tartaglia, Marco; Thompson, Michelle L.; van de Kamp, Jiddeke M.; Wang, Jingmin; Weise, Dagmar; Weiss, Karin; Woitschach, Rixa; Wollnik, Bernd; Yan, Huifang; Zackai, Elaine H.; Zampino, Giuseppe; Campeau, Philippe; Bhoj, ElizabethShareSaveMN1 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.ShareSaveDe Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies2019-09-0132OAAIHolt, Richard J.; Young, Rodrigo M.; Crespo, Berta; Ceroni, Fabiola; Curry, Cynthia J.; Bellacchio, Emanuele; Bax, Dorine A.; Ciolfi, Andrea; Simon, Marleen; Fagerberg, Christina R.; van Binsbergen, Ellen; De Luca, Alessandro; Memo, Luigi; Dobyns, William B.; Mohammed, Alaa Afif; Clokie, Samuel J. H.; Seco, Celia Zazo; Jiang, Yong-Hui; Sorensen, Kristina P.; Andersen, Helle; Sullivan, Jennifer; Powis, Zoe; Chassevent, Anna; Smith-Hicks, Constance; Petrovski, Slave; Antoniadi, Thalia; Shashi, Vandana; Gelb, Bruce D.; Wilson, Stephen W.; Gerrelli, Dianne; Tartaglia, Marco; Chassaing, Nicolas; Calvas, Patrick; Ragge, Nicola K.
2019-09-0132OAAIHolt, Richard J.; Young, Rodrigo M.; Crespo, Berta; Ceroni, Fabiola; Curry, Cynthia J.; Bellacchio, Emanuele; Bax, Dorine A.; Ciolfi, Andrea; Simon, Marleen; Fagerberg, Christina R.; van Binsbergen, Ellen; De Luca, Alessandro; Memo, Luigi; Dobyns, William B.; Mohammed, Alaa Afif; Clokie, Samuel J. H.; Seco, Celia Zazo; Jiang, Yong-Hui; Sorensen, Kristina P.; Andersen, Helle; Sullivan, Jennifer; Powis, Zoe; Chassevent, Anna; Smith-Hicks, Constance; Petrovski, Slave; Antoniadi, Thalia; Shashi, Vandana; Gelb, Bruce D.; Wilson, Stephen W.; Gerrelli, Dianne; Tartaglia, Marco; Chassaing, Nicolas; Calvas, Patrick; Ragge, Nicola K.ShareSaveDe Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder2019-08-0133OAAIBlok, Lot Snijders; Kleefstra, Tjitske; Venselaar, Hanka; Maas, Saskia; Kroes, Hester Y.; Lachmeijer, Augusta M. A.; van Gassen, Koen L., I; Firth, Helen, V; Tomkins, Susan; Bodek, Simon; Study, The D. D. D.; Ounap, Katrin; Wojcik, Monica H.; Cunniff, Christopher; Bergstrom, Katherine; Powis, Zoe; Tang, Sha; Shinde, Deepali N.; Au, Catherine; Iglesias, Alejandro D.; Izumi, Kosuke; Leonard, Jacqueline; Abou Tayoun, Ahmad; Baker, Samuel W.; Tartaglia, Marco; Niceta, Marcello; Dentici, Maria Lisa; Okamoto, Nobuhiko; Miyake, Noriko; Matsumoto, Naomichi; Vitobello, Antonio; Faivre, Laurence; Philippe, Christophe; Gilissen, Christian; Wiel, Laurens; Pfundt, Rolph; Deriziotis, Pelagia; Brunner, Han G.; Fisher, Simon E.
2019-08-0133OAAIBlok, Lot Snijders; Kleefstra, Tjitske; Venselaar, Hanka; Maas, Saskia; Kroes, Hester Y.; Lachmeijer, Augusta M. A.; van Gassen, Koen L., I; Firth, Helen, V; Tomkins, Susan; Bodek, Simon; Study, The D. D. D.; Ounap, Katrin; Wojcik, Monica H.; Cunniff, Christopher; Bergstrom, Katherine; Powis, Zoe; Tang, Sha; Shinde, Deepali N.; Au, Catherine; Iglesias, Alejandro D.; Izumi, Kosuke; Leonard, Jacqueline; Abou Tayoun, Ahmad; Baker, Samuel W.; Tartaglia, Marco; Niceta, Marcello; Dentici, Maria Lisa; Okamoto, Nobuhiko; Miyake, Noriko; Matsumoto, Naomichi; Vitobello, Antonio; Faivre, Laurence; Philippe, Christophe; Gilissen, Christian; Wiel, Laurens; Pfundt, Rolph; Deriziotis, Pelagia; Brunner, Han G.; Fisher, Simon E.ShareSaveSLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported IndividualsHUMAN MUTATION2019-04-2458OAAINg, Bobby G.; Sosicka, Paulina; Agadi, Satish; Almannai, Mohammed; Bacino, Carlos A.; Barone, Rita; Botto, Lorenzo D.; Burton, Jennifer E.; Carlston, Colleen; Chung, Brian Hon-Yin; Cohen, Julie S.; Coman, David; Dipple, Katrina M.; Dorrani, Naghmeh; Dobyns, William B.; Elias, Abdallah F.; Epstein, Leon; Gahl, William A.; Garozzo, Domenico; Hammer, Trine Bjorg; Haven, Jaclyn; Heron, Delphine; Herzog, Matthew; Hoganson, George E.; Hunter, Jesse M.; Jain, Mahim; Juusola, Jane; Lakhani, Shenela; Lee, Hane; Lee, Joy; Lewis, Katherine; Longo, Nicola; Lourenco, Charles Marques; Mak, Christopher C. Y.; McKnight, Dianalee; Mendelsohn, Bryce A.; Mignot, Cyril; Mirzaa, Ghayda; Mitchell, Wendy; Muhle, Hiltrud; Nelson, Stanley F.; Olczak, Mariusz; Palmer, Christina G. S.; Partikian, Arthur; Patterson, Marc C.; Pierson, Tyler M.; Quinonez, Shane C.; Regan, Brigid M.; Ross, M. Elizabeth; Guillen Sacoto, Maria J.; Scaglia, Fernando; Scheffer, Ingrid E.; Segal, Devorah; Singhal, Nilika Shah; Striano, Pasquale; Sturiale, Luisa; Symonds, Joseph D.; Tang, Sha; Vilain, Eric; Willis, Mary; Wolfe, Lynne A.; Yang, Hui; Yano, Shoji; Powis, Zoee; Suchy, Sharon F.; Rosenfeld, Jill A.; Edmondson, Andrew C.; Grunewald, Stephanie; Freeze, Hudson H.
HUMAN MUTATIONIF3.7
2019-04-2458OAAINg, Bobby G.; Sosicka, Paulina; Agadi, Satish; Almannai, Mohammed; Bacino, Carlos A.; Barone, Rita; Botto, Lorenzo D.; Burton, Jennifer E.; Carlston, Colleen; Chung, Brian Hon-Yin; Cohen, Julie S.; Coman, David; Dipple, Katrina M.; Dorrani, Naghmeh; Dobyns, William B.; Elias, Abdallah F.; Epstein, Leon; Gahl, William A.; Garozzo, Domenico; Hammer, Trine Bjorg; Haven, Jaclyn; Heron, Delphine; Herzog, Matthew; Hoganson, George E.; Hunter, Jesse M.; Jain, Mahim; Juusola, Jane; Lakhani, Shenela; Lee, Hane; Lee, Joy; Lewis, Katherine; Longo, Nicola; Lourenco, Charles Marques; Mak, Christopher C. Y.; McKnight, Dianalee; Mendelsohn, Bryce A.; Mignot, Cyril; Mirzaa, Ghayda; Mitchell, Wendy; Muhle, Hiltrud; Nelson, Stanley F.; Olczak, Mariusz; Palmer, Christina G. S.; Partikian, Arthur; Patterson, Marc C.; Pierson, Tyler M.; Quinonez, Shane C.; Regan, Brigid M.; Ross, M. Elizabeth; Guillen Sacoto, Maria J.; Scaglia, Fernando; Scheffer, Ingrid E.; Segal, Devorah; Singhal, Nilika Shah; Striano, Pasquale; Sturiale, Luisa; Symonds, Joseph D.; Tang, Sha; Vilain, Eric; Willis, Mary; Wolfe, Lynne A.; Yang, Hui; Yano, Shoji; Powis, Zoee; Suchy, Sharon F.; Rosenfeld, Jill A.; Edmondson, Andrew C.; Grunewald, Stephanie; Freeze, Hudson H.ShareSaveClinical spectrum of STX1B-related epileptic disordersNEUROLOGY2019-03-1246OAAIWolking, Stefan; May, Patrick; Mei, Davide; Moller, Rikke S.; Balestrini, Simona; Helbig, Katherine L.; Altuzarra, Cecilia Desmettre; Chatron, Nicolas; Kaiwar, Charu; Stohr, Katharina; Widdess-Walsh, Peter; Mendelsohn, Bryce A.; Numis, Adam; Cilio, Maria R.; Van Paesschen, Wim; Svendsen, Lene L.; Oates, Stephanie; Hughes, Elaine; Goyal, Sushma; Brown, Kathleen; Saenz, Margarita Sifuentes; Dorn, Thomas; Muhle, Hiltrud; Pagnamenta, Alistair T.; Vavoulis, Dimitris V.; Knight, Samantha J. L.; Taylor, Jenny C.; Canevini, Maria Paola; Darra, Francesca; Gavrilova, Ralitza H.; Powis, Zoe; Tang, Shan; Marquetand, Justus; Armstrong, Martin; McHale, Duncan; Klee, Eric W.; Kluger, Gerhard J.; Lowenstein, Daniel H.; Weckhuysen, Sarah; Pal, Deb K.; Helbig, Ingo; Guerrini, Renzo; Thomas, Rhys H.; Rees, Mark I.; Lesca, Gaetan; Sisodiya, Sanjay M.; Weber, Yvonne G.; Lal, Dennis; Marini, Carla; Lerche, Holger; Schubert, Julian
NEUROLOGYIF8.5
2019-03-1246OAAIWolking, Stefan; May, Patrick; Mei, Davide; Moller, Rikke S.; Balestrini, Simona; Helbig, Katherine L.; Altuzarra, Cecilia Desmettre; Chatron, Nicolas; Kaiwar, Charu; Stohr, Katharina; Widdess-Walsh, Peter; Mendelsohn, Bryce A.; Numis, Adam; Cilio, Maria R.; Van Paesschen, Wim; Svendsen, Lene L.; Oates, Stephanie; Hughes, Elaine; Goyal, Sushma; Brown, Kathleen; Saenz, Margarita Sifuentes; Dorn, Thomas; Muhle, Hiltrud; Pagnamenta, Alistair T.; Vavoulis, Dimitris V.; Knight, Samantha J. L.; Taylor, Jenny C.; Canevini, Maria Paola; Darra, Francesca; Gavrilova, Ralitza H.; Powis, Zoe; Tang, Shan; Marquetand, Justus; Armstrong, Martin; McHale, Duncan; Klee, Eric W.; Kluger, Gerhard J.; Lowenstein, Daniel H.; Weckhuysen, Sarah; Pal, Deb K.; Helbig, Ingo; Guerrini, Renzo; Thomas, Rhys H.; Rees, Mark I.; Lesca, Gaetan; Sisodiya, Sanjay M.; Weber, Yvonne G.; Lal, Dennis; Marini, Carla; Lerche, Holger; Schubert, JulianShareSaveSpatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures2019-01-2147OAAIZweier, Markus; Begemann, Anais; McWalter, Kirsty; Cho, Megan T.; Abela, Lucia; Banka, Siddharth; Behring, Bettina; Berger, Andrea; Brown, Chester W.; Carneiro, Maryline; Chen, Jiani; Cooper, Gregory M.; Finnila, Candice R.; Sacoto, Maria J. Guillen; Henderson, Alex; Huffmeier, Ulrike; Joset, Pascal; Kerr, Bronwyn; Lesca, Gaetan; Leszinski, Gloria S.; McDermott, John Henry; Meltzer, Meira R.; Monaghan, Kristin G.; Mostafavi, Roya; Ounap, Katrin; Plecko, Barbara; Powis, Zoe; Purcarin, Gabriela; Reimand, Tiia; Riedhammer, Korbinian M.; Schreiber, John M.; Sirsi, Deepa; Wierenga, Klaas J.; Wojcik, Monica H.; Papuc, Sorina M.; Steindl, Katharina; Sticht, Heinrich; Rauch, Anita
2019-01-2147OAAIZweier, Markus; Begemann, Anais; McWalter, Kirsty; Cho, Megan T.; Abela, Lucia; Banka, Siddharth; Behring, Bettina; Berger, Andrea; Brown, Chester W.; Carneiro, Maryline; Chen, Jiani; Cooper, Gregory M.; Finnila, Candice R.; Sacoto, Maria J. Guillen; Henderson, Alex; Huffmeier, Ulrike; Joset, Pascal; Kerr, Bronwyn; Lesca, Gaetan; Leszinski, Gloria S.; McDermott, John Henry; Meltzer, Meira R.; Monaghan, Kristin G.; Mostafavi, Roya; Ounap, Katrin; Plecko, Barbara; Powis, Zoe; Purcarin, Gabriela; Reimand, Tiia; Riedhammer, Korbinian M.; Schreiber, John M.; Sirsi, Deepa; Wierenga, Klaas J.; Wojcik, Monica H.; Papuc, Sorina M.; Steindl, Katharina; Sticht, Heinrich; Rauch, AnitaShareSaveDe novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delayPLOS GENETICS2018-11-3019OAAIHiatt, Susan M.; Neu, Matthew B.; Ramaker, Ryne C.; Hardigan, Andrew A.; Prokop, Jeremy W.; Hancarova, Miroslava; Prchalova, Darina; Havlovicova, Marketa; Prchal, Jan; Stranecky, Viktor; Yim, Dwight K. C.; Powis, Zoe; Keren, Boris; Nava, Caroline; Mignot, Cyril; Rio, Marlene; Revah-Politi, Anya; Hemati, Parisa; Stong, Nicholas; Iglesias, Alejandro D.; Suchy, Sharon F.; Willaert, Rebecca; Wentzensen, Ingrid M.; Wheeler, Patricia G.; Brick, Lauren; Kozenko, Mariya; Hurst, Anna C. E.; Wheless, James W.; Lacassie, Yves; Myers, Richard M.; Barsh, Gregory S.; Sedlacek, Zdenek; Cooper, Gregory M.
PLOS GENETICSIF3.7
2018-11-3019OAAIHiatt, Susan M.; Neu, Matthew B.; Ramaker, Ryne C.; Hardigan, Andrew A.; Prokop, Jeremy W.; Hancarova, Miroslava; Prchalova, Darina; Havlovicova, Marketa; Prchal, Jan; Stranecky, Viktor; Yim, Dwight K. C.; Powis, Zoe; Keren, Boris; Nava, Caroline; Mignot, Cyril; Rio, Marlene; Revah-Politi, Anya; Hemati, Parisa; Stong, Nicholas; Iglesias, Alejandro D.; Suchy, Sharon F.; Willaert, Rebecca; Wentzensen, Ingrid M.; Wheeler, Patricia G.; Brick, Lauren; Kozenko, Mariya; Hurst, Anna C. E.; Wheless, James W.; Lacassie, Yves; Myers, Richard M.; Barsh, Gregory S.; Sedlacek, Zdenek; Cooper, Gregory M.ShareSaveBiallelic disruption of PKDCC is associated with a skeletal disorder characterised by rhizomelic shortening of extremities and dysmorphic features2018-11-2615Sajan, Samin A.; Ganesh, Jaya; Shinde, Deepali N.; Powis, Zoe; Scarano, Maria, I; Stone, Jennifer; Winter, Susan; Tang, Sha
2018-11-2615PREAI
Sajan, Samin A.; Ganesh, Jaya; Shinde, Deepali N.; Powis, Zoe; Scarano, Maria, I; Stone, Jennifer; Winter, Susan; Tang, ShaShareSaveExome sequencing in neonates: diagnostic rates, characteristics, and time to diagnosisGENETICS IN MEDICINE2018-11-0130OAAIPowis, Zoe; Hagman, Kelly D. Farwell; Speare, Virginia; Cain, Taylor; Blanco, Kirsten; Mowlavi, Layla S.; Mayerhofer, Emily M.; Tilstra, David; Vedder, Timothy; Hunter, Jesse M.; Tsang, Marilyn; Gonzalez, Lina; Vockley, Gerald; Tang, Sha
GENETICS IN MEDICINEIF6.2
2018-11-0130OAAIPowis, Zoe; Hagman, Kelly D. Farwell; Speare, Virginia; Cain, Taylor; Blanco, Kirsten; Mowlavi, Layla S.; Mayerhofer, Emily M.; Tilstra, David; Vedder, Timothy; Hunter, Jesse M.; Tsang, Marilyn; Gonzalez, Lina; Vockley, Gerald; Tang, ShaShareSaveA Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation2018-10-0151OAAIFerreira, Carlos R.; Xia, Zhi-Jie; Clement, Aurelie; Parry, David A.; Davids, Mariska; Taylan, Fulya; Sharma, Prashant; Turgeon, Coleman T.; Blanco-Sanchez, Bernardo; Ng, Bobby G.; Logan, Clare V.; Wolfe, Lynne A.; Solomon, Benjamin D.; Cho, Megan T.; Douglas, Ganka; Carvalho, Daniel R.; Bratke, Heiko; Haug, Marte Gjol; Phillips, Jennifer B.; Wegner, Jeremy; Tiemeyer, Michael; Aoki, Kazuhiro; Nordgren, Ann; Hammarsjo, Anna; Duker, Angela L.; Rohena, Luis; Hove, Hanne Buciek; Ek, Jakob; Adams, David; Tifft, Cynthia J.; Onyekweli, Tito; Weixel, Tara; Macnamara, Ellen; Radtke, Kelly; Powis, Zoe; Earl, Dawn; Gabriel, Melissa; Russi, Alvaro H. Serrano; Brick, Lauren; Kozenko, Mariya; Tham, Emma; Raymond, Kimiyo M.; Phillips, John A., III; Tiller, George E.; Wilson, William G.; Hamid, Rizwan; Malicdan, May C. V.; Nishimura, Gen; Grigelioniene, Giedre; Jackson, Andrew; Westerfield, Monte; Bober, Michael B.; Gahl, William A.; Freeze, Hudson H.
2018-10-0151OAAIFerreira, Carlos R.; Xia, Zhi-Jie; Clement, Aurelie; Parry, David A.; Davids, Mariska; Taylan, Fulya; Sharma, Prashant; Turgeon, Coleman T.; Blanco-Sanchez, Bernardo; Ng, Bobby G.; Logan, Clare V.; Wolfe, Lynne A.; Solomon, Benjamin D.; Cho, Megan T.; Douglas, Ganka; Carvalho, Daniel R.; Bratke, Heiko; Haug, Marte Gjol; Phillips, Jennifer B.; Wegner, Jeremy; Tiemeyer, Michael; Aoki, Kazuhiro; Nordgren, Ann; Hammarsjo, Anna; Duker, Angela L.; Rohena, Luis; Hove, Hanne Buciek; Ek, Jakob; Adams, David; Tifft, Cynthia J.; Onyekweli, Tito; Weixel, Tara; Macnamara, Ellen; Radtke, Kelly; Powis, Zoe; Earl, Dawn; Gabriel, Melissa; Russi, Alvaro H. Serrano; Brick, Lauren; Kozenko, Mariya; Tham, Emma; Raymond, Kimiyo M.; Phillips, John A., III; Tiller, George E.; Wilson, William G.; Hamid, Rizwan; Malicdan, May C. V.; Nishimura, Gen; Grigelioniene, Giedre; Jackson, Andrew; Westerfield, Monte; Bober, Michael B.; Gahl, William A.; Freeze, Hudson H.ShareSaveResearch Directions
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