The Human Phenotype Ontology in 2021
Köhler, Sebastian, Gargano, Michael, Matentzoglu, Nicolas, Carmody, Leigh C, Lewis-Smith, David, Vasilevsky, Nicole A, Danis, Daniel, Balagura, Ganna, Baynam, Gareth, Brower, Amy M, Callahan, Tiffany J, Chute, Christopher G, Est, Johanna L, Galer, Peter D, Ganesan, Shiva, Griese, Matthias, Haimel, Matthias, Pazmandi, Julia, Hanauer, Marc, Harris, Nomi L, Hartnett, Michael J, Hastreiter, Maximilian, Hauck, Fabian, He, Yongqun, Jeske, Tim, Kearney, Hugh, Kindle, Gerhard, Klein, Christoph, Knoflach, Katrin, Krause, Roland, Lagorce, David, McMurry, Julie A, Miller, Jillian A, Munoz-Torres, Monica C, Peters, Rebecca L, Rapp, Christina K, Rath, Ana M, Rind, Shahmir A, Rosenberg, Avi Z, Segal, Michael M, Seidel, Markus G, Smedley, Damian, Talmy, Tomer, Thomas, Yarlalu, Wiafe, Samuel A, Xian, Julie, Yüksel, Zafer, Helbig, Ingo, Mungall, Christopher J, Haendel, Melissa A, Robinson, Peter N
Published in Nucleic acids research (08.01.2021)
Published in Nucleic acids research (08.01.2021)
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The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species
Shefchek, Kent A, Harris, Nomi L, Gargano, Michael, Matentzoglu, Nicolas, Unni, Deepak, Brush, Matthew, Keith, Daniel, Conlin, Tom, Vasilevsky, Nicole, Zhang, Xingmin Aaron, Balhoff, James P, Babb, Larry, Bello, Susan M, Blau, Hannah, Bradford, Yvonne, Carbon, Seth, Carmody, Leigh, Chan, Lauren E, Cipriani, Valentina, Cuzick, Alayne, Della Rocca, Maria, Dunn, Nathan, Essaid, Shahim, Fey, Petra, Grove, Chris, Gourdine, Jean-Phillipe, Hamosh, Ada, Harris, Midori, Helbig, Ingo, Hoatlin, Maureen, Joachimiak, Marcin, Jupp, Simon, Lett, Kenneth B, Lewis, Suzanna E, McNamara, Craig, Pendlington, Zoë M, Pilgrim, Clare, Putman, Tim, Ravanmehr, Vida, Reese, Justin, Riggs, Erin, Robb, Sofia, Roncaglia, Paola, Seager, James, Segerdell, Erik, Similuk, Morgan, Storm, Andrea L, Thaxon, Courtney, Thessen, Anne, Jacobsen, Julius O B, McMurry, Julie A, Groza, Tudor, Köhler, Sebastian, Smedley, Damian, Robinson, Peter N, Mungall, Christopher J, Haendel, Melissa A, Munoz-Torres, Monica C, Osumi-Sutherland, David
Published in Nucleic acids research (08.01.2020)
Published in Nucleic acids research (08.01.2020)
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Analyzing 2,589 child neurology telehealth encounters necessitated by the COVID-19 pandemic
Rametta, Salvatore C, Fridinger, Sara E, Gonzalez, Alexander K, Xian, Julie, Galer, Peter D, Kaufman, Michael, Prelack, Marisa S, Sharif, Uzma, Fitzgerald, Mark P, Melamed, Susan E, Malcolm, Marissa P, Kessler, Sudha Kilaru, Stephenson, Donna J, Banwell, Brenda L, Abend, Nicholas S, Helbig, Ingo
Published in Neurology (01.09.2020)
Published in Neurology (01.09.2020)
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The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data
Köhler, Sebastian, Doelken, Sandra C, Mungall, Christopher J, Bauer, Sebastian, Firth, Helen V, Bailleul-Forestier, Isabelle, Black, Graeme C M, Brown, Danielle L, Brudno, Michael, Campbell, Jennifer, FitzPatrick, David R, Eppig, Janan T, Jackson, Andrew P, Freson, Kathleen, Girdea, Marta, Helbig, Ingo, Hurst, Jane A, Jähn, Johanna, Jackson, Laird G, Kelly, Anne M, Ledbetter, David H, Mansour, Sahar, Martin, Christa L, Moss, Celia, Mumford, Andrew, Ouwehand, Willem H, Park, Soo-Mi, Riggs, Erin Rooney, Scott, Richard H, Sisodiya, Sanjay, Van Vooren, Steven, Wapner, Ronald J, Wilkie, Andrew O M, Wright, Caroline F, Vulto-van Silfhout, Anneke T, de Leeuw, Nicole, de Vries, Bert B A, Washingthon, Nicole L, Smith, Cynthia L, Westerfield, Monte, Schofield, Paul, Ruef, Barbara J, Gkoutos, Georgios V, Haendel, Melissa, Smedley, Damian, Lewis, Suzanna E, Robinson, Peter N
Published in Nucleic acids research (01.01.2014)
Published in Nucleic acids research (01.01.2014)
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Journal Article
Mutations in SCN3A cause early infantile epileptic encephalopathy
Zaman, Tariq, Helbig, Ingo, Božović, Ivana Babić, DeBrosse, Suzanne D., Bergqvist, A. Christina, Wallis, Kimberly, Medne, Livija, Maver, Aleš, Peterlin, Borut, Helbig, Katherine L., Zhang, Xiaohong, Goldberg, Ethan M.
Published in Annals of neurology (01.04.2018)
Published in Annals of neurology (01.04.2018)
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Journal Article
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2
Corbett, Mark A., Kroes, Thessa, Veneziano, Liana, Bennett, Mark F., Florian, Rahel, Schneider, Amy L., Coppola, Antonietta, Licchetta, Laura, Franceschetti, Silvana, Suppa, Antonio, Wenger, Aaron, Mei, Davide, Pendziwiat, Manuela, Kaya, Sabine, Delledonne, Massimo, Straussberg, Rachel, Xumerle, Luciano, Regan, Brigid, Crompton, Douglas, van Rootselaar, Anne-Fleur, Correll, Anthony, Catford, Rachael, Bisulli, Francesca, Chakraborty, Shreyasee, Baldassari, Sara, Tinuper, Paolo, Barton, Kirston, Carswell, Shaun, Smith, Martin, Berardelli, Alfredo, Carroll, Renee, Gardner, Alison, Friend, Kathryn L., Blatt, Ilan, Iacomino, Michele, Di Bonaventura, Carlo, Striano, Salvatore, Buratti, Julien, Keren, Boris, Nava, Caroline, Forlani, Sylvie, Rudolf, Gabrielle, Hirsch, Edouard, Leguern, Eric, Labauge, Pierre, Balestrini, Simona, Sander, Josemir W., Afawi, Zaid, Helbig, Ingo, Ishiura, Hiroyuki, Tsuji, Shoji, Sisodiya, Sanjay M., Casari, Giorgio, Sadleir, Lynette G., van Coller, Riaan, Tijssen, Marina A. J., Klein, Karl Martin, van den Maagdenberg, Arn M. J. M., Zara, Federico, Guerrini, Renzo, Berkovic, Samuel F., Pippucci, Tommaso, Canafoglia, Laura, Bahlo, Melanie, Striano, Pasquale, Scheffer, Ingrid E., Brancati, Francesco, Depienne, Christel, Gecz, Jozef
Published in Nature communications (29.10.2019)
Published in Nature communications (29.10.2019)
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De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy
Syrbe, Steffen, Hedrich, Ulrike B S, Riesch, Erik, Djémié, Tania, Müller, Stephan, Møller, Rikke S, Maher, Bridget, Hernandez-Hernandez, Laura, Synofzik, Matthis, Caglayan, Hande S, Arslan, Mutluay, Serratosa, José M, Nothnagel, Michael, May, Patrick, Krause, Roland, Löffler, Heidrun, Detert, Katja, Dorn, Thomas, Vogt, Heinrich, Krämer, Günter, Schöls, Ludger, Mullis, Primus E, Linnankivi, Tarja, Lehesjoki, Anna-Elina, Sterbova, Katalin, Craiu, Dana C, Hoffman-Zacharska, Dorota, Korff, Christian M, Weber, Yvonne G, Steinlin, Maja, Gallati, Sabina, Bertsche, Astrid, Bernhard, Matthias K, Merkenschlager, Andreas, Kiess, Wieland, Gonzalez, Michael, Züchner, Stephan, Palotie, Aarno, Suls, Arvid, De Jonghe, Peter, Helbig, Ingo, Biskup, Saskia, Wolff, Markus, Maljevic, Snezana, Schüle, Rebecca, Sisodiya, Sanjay M, Weckhuysen, Sarah, Lerche, Holger, Lemke, Johannes R
Published in Nature genetics (01.04.2015)
Published in Nature genetics (01.04.2015)
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Assessing the landscape of STXBP1-related disorders in 534 individuals
Xian, Julie, Parthasarathy, Shridhar, Ruggiero, Sarah M, Balagura, Ganna, Fitch, Eryn, Helbig, Katherine, Gan, Jing, Ganesan, Shiva, Kaufman, Michael C, Ellis, Colin A, Lewis-Smith, David, Galer, Peter, Cunningham, Kristin, O'Brien, Margaret, Cosico, Mahgenn, Baker, Kate, Darling, Alejandra, Veiga de Goes, Fernanda, El Achkar, Christelle M, Doering, Jan Henje, Furia, Francesca, García-Cazorla, Ángeles, Gardella, Elena, Geertjens, Lisa, Klein, Courtney, Kolesnik-Taylor, Anna, Lammertse, Hanna, Lee, Jeehun, Mackie, Alexandra, Misra-Isrie, Mala, Olson, Heather, Sexton, Emma, Sheidley, Beth, Smith, Lacey, Sotero, Luiza, Stamberger, Hannah, Syrbe, Steffen, Thalwitzer, Kim Marie, van Berkel, Annemiek, van Haelst, Mieke, Yuskaitis, Christopher, Weckhuysen, Sarah, Prosser, Ben, Son Rigby, Charlene, Demarest, Scott, Pierce, Samuel, Zhang, Yuehua, Møller, Rikke S, Bruining, Hilgo, Poduri, Annapurna, Zara, Federico, Verhage, Matthijs, Striano, Pasquale, Helbig, Ingo
Published in Brain (London, England : 1878) (03.06.2022)
Published in Brain (London, England : 1878) (03.06.2022)
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Journal Article
Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies
Masnada, Silvia, Hedrich, Ulrike B S, Gardella, Elena, Schubert, Julian, Kaiwar, Charu, Klee, Eric W, Lanpher, Brendan C, Gavrilova, Ralitza H, Synofzik, Matthis, Bast, Thomas, Gorman, Kathleen, King, Mary D, Allen, Nicholas M, Conroy, Judith, Ben Zeev, Bruria, Tzadok, Michal, Korff, Christian, Dubois, Fanny, Ramsey, Keri, Narayanan, Vinodh, Serratosa, Jose M, Giraldez, Beatriz G, Helbig, Ingo, Marsh, Eric, O'Brien, Margaret, Bergqvist, Christina A, Binelli, Adrian, Porter, Brenda, Zaeyen, Eduardo, Horovitz, Dafne D, Wolff, Markus, Marjanovic, Dragan, Caglayan, Hande S, Arslan, Mutluay, Pena, Sergio D J, Sisodiya, Sanjay M, Balestrini, Simona, Syrbe, Steffen, Veggiotti, Pierangelo, Lemke, Johannes R, Møller, Rikke S, Lerche, Holger, Rubboli, Guido
Published in Brain (London, England : 1878) (01.09.2017)
Published in Brain (London, England : 1878) (01.09.2017)
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Journal Article
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy
Helbig, Ingo, Lopez-Hernandez, Tania, Shor, Oded, Galer, Peter, Ganesan, Shiva, Pendziwiat, Manuela, Rademacher, Annika, Ellis, Colin A., Hümpfer, Nadja, Schwarz, Niklas, Seiffert, Simone, Peeden, Joseph, Shen, Joseph, Štěrbová, Katalin, Hammer, Trine Bjørg, Møller, Rikke S., Shinde, Deepali N., Tang, Sha, Smith, Lacey, Poduri, Annapurna, Krause, Roland, Benninger, Felix, Helbig, Katherine L., Haucke, Volker, Weber, Yvonne G., Balling, Rudi, Barisic, Nina, Baulac, Stéphanie, Caglayan, Hande, Craiu, Dana, De Jonghe, Peter, Depienne, Christel, Guerrini, Renzo, Hjalgrim, Helle, Hoffman-Zacharska, Dorota, Jähn, Johanna, Klein, Karl Martin, Koeleman, Bobby P.C., Komarek, Vladimir, Leguern, Eric, Lehesjoki, Anna-Elina, Lemke, Johannes R., Lerche, Holger, Linnankivi, Tarja, Marini, Carla, May, Patrick, Muhle, Hiltrud, Pal, Deb K., Palotie, Aarno, Rosenow, Felix, Schubert-Bast, Susanne, Selmer, Kaja, Serratosa, Jose M., Sisodiya, Sanjay, Stephani, Ulrich, Striano, Pasquale, Suls, Arvid, Talvik, Tiina, von Spiczak, Sarah, Weckhuysen, Sarah, Zara, Federico, Avillach, Paul, Bartels, Anna, Biswas, Sawona, Bourgeois, Florence, Devkota, Batsal, Glauser, Tracy, Hallinan, Barbara, Heath, Allison, Hirschhorn, Joel, Kilbourn, Judson, Kong, Sek Won, Krantz, Ian, Lee, In-Hee, Mandl, Kenneth D., Marsh, Eric, Sund, Kristen, Taylor, Deanne, White, Peter
Published in American journal of human genetics (06.06.2019)
Published in American journal of human genetics (06.06.2019)
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Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies
Carvill, Gemma L., Engel, Krysta L., Ramamurthy, Aishwarya, Cochran, J. Nicholas, Roovers, Jolien, Stamberger, Hannah, Lim, Nicholas, Schneider, Amy L., Hollingsworth, Georgie, Holder, Dylan H., Regan, Brigid M., Lawlor, James, Lagae, Lieven, Ceulemans, Berten, Bebin, E. Martina, Nguyen, John, Striano, Pasquale, Zara, Federico, Helbig, Ingo, Møller, Rikke S., von Spiczak, Sarah, Muhle, Hiltrud, Caglayan, Hande, Sterbova, Katalin, Craiu, Dana, Hoffman, Dorota, Lehesjoki, Anna-Elina, Selmer, Kaja, Depienne, Christel, Lemke, Johannes, Marini, Carla, Guerrini, Renzo, Neubauer, Bernd, Talvik, Tiina, Leguern, Eric, de Jonghe, Peter, Weckhuysen, Sarah, Barsh, Gregory S., Weckhuysen, Sarah, Meisler, Miriam, Berkovic, Samuel F., De Jonghe, Peter, Scheffer, Ingrid E., Myers, Richard M., Cooper, Gregory M., Mefford, Heather C.
Published in American journal of human genetics (06.12.2018)
Published in American journal of human genetics (06.12.2018)
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Journal Article
De novo mutations in HCN1 cause early infantile epileptic encephalopathy
Nava, Caroline, Dalle, Carine, Rastetter, Agnès, Striano, Pasquale, de Kovel, Carolien G F, Nabbout, Rima, Cancès, Claude, Ville, Dorothée, Brilstra, Eva H, Gobbi, Giuseppe, Raffo, Emmanuel, Bouteiller, Delphine, Marie, Yannick, Trouillard, Oriane, Robbiano, Angela, Keren, Boris, Agher, Dahbia, Roze, Emmanuel, Lesage, Suzanne, Nicolas, Aude, Brice, Alexis, Baulac, Michel, Vogt, Cornelia, El Hajj, Nady, Schneider, Eberhard, Suls, Arvid, Weckhuysen, Sarah, Gormley, Padhraig, Lehesjoki, Anna-Elina, De Jonghe, Peter, Helbig, Ingo, Baulac, Stéphanie, Zara, Federico, Koeleman, Bobby P C, Haaf, Thomas, LeGuern, Eric, Depienne, Christel
Published in Nature genetics (01.06.2014)
Published in Nature genetics (01.06.2014)
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Journal Article
Defining the phenotypic spectrum of SLC6A1 mutations
Johannesen, Katrine M., Gardella, Elena, Linnankivi, Tarja, Courage, Carolina, Saint Martin, Anne, Lehesjoki, Anna‐Elina, Mignot, Cyril, Afenjar, Alexandra, Lesca, Gaetan, Abi‐Warde, Marie‐Thérèse, Chelly, Jamel, Piton, Amélie, Merritt, J. Lawrence, Rodan, Lance H., Tan, Wen‐Hann, Bird, Lynne M., Nespeca, Mark, Gleeson, Joseph G., Yoo, Yongjin, Choi, Murim, Chae, Jong‐Hee, Czapansky‐Beilman, Desiree, Reichert, Sara Chadwick, Pendziwiat, Manuela, Verhoeven, Judith S., Schelhaas, Helenius J., Devinsky, Orrin, Christensen, Jakob, Specchio, Nicola, Trivisano, Marina, Weber, Yvonne G., Nava, Caroline, Keren, Boris, Doummar, Diane, Schaefer, Elise, Hopkins, Sarah, Dubbs, Holly, Shaw, Jessica E., Pisani, Laura, Myers, Candace T., Tang, Sha, Tang, Shan, Pal, Deb K., Millichap, John J., Carvill, Gemma L., Helbig, Kathrine L., Mecarelli, Oriano, Striano, Pasquale, Helbig, Ingo, Rubboli, Guido, Mefford, Heather C., Møller, Rikke S.
Published in Epilepsia (Copenhagen) (01.02.2018)
Published in Epilepsia (Copenhagen) (01.02.2018)
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Journal Article
The spectrum of intermediate SCN8A‐related epilepsy
Johannesen, Katrine M., Gardella, Elena, Encinas, Alejandra C., Lehesjoki, Anna‐Elina, Linnankivi, Tarja, Petersen, Michael B., Lund, Ida Charlotte Bay, Blichfeldt, Susanne, Miranda, Maria J., Pal, Deb K., Lascelles, Karine, Procopis, Peter, Orsini, Alessandro, Bonuccelli, Alice, Giacomini, Thea, Helbig, Ingo, Fenger, Christina D., Sisodiya, Sanjay M., Hernandez‐Hernandez, Laura, Krithika, Sundararaman, Rumple, Melissa, Masnada, Silvia, Valente, Marialuisa, Cereda, Cristina, Giordano, Lucio, Accorsi, Patrizia, Bürki, Sarah E., Mancardi, Margherita, Korff, Christian, Guerrini, Renzo, Spiczak, Sarah, Hoffman‐Zacharska, Dorota, Mazurczak, Tomasz, Coppola, Antonietta, Buono, Salvatore, Vecchi, Marilena, Hammer, Michael F., Varesio, Costanza, Veggiotti, Pierangelo, Lal, Dennis, Brünger, Tobias, Zara, Federico, Striano, Pasquale, Rubboli, Guido, Møller, Rikke S.
Published in Epilepsia (Copenhagen) (01.05.2019)
Published in Epilepsia (Copenhagen) (01.05.2019)
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Journal Article
Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders
Crawford, Katherine, Xian, Julie, Helbig, Katherine L., Galer, Peter D., Parthasarathy, Shridhar, Lewis-Smith, David, Kaufman, Michael C., Fitch, Eryn, Ganesan, Shiva, O’Brien, Margaret, Codoni, Veronica, Ellis, Colin A., Conway, Laura J., Taylor, Deanne, Krause, Roland, Helbig, Ingo
Published in Genetics in medicine (01.07.2021)
Published in Genetics in medicine (01.07.2021)
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Journal Article
Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies
Mefford, Heather C, Muhle, Hiltrud, Ostertag, Philipp, von Spiczak, Sarah, Buysse, Karen, Baker, Carl, Franke, Andre, Malafosse, Alain, Genton, Pierre, Thomas, Pierre, Gurnett, Christina A, Schreiber, Stefan, Bassuk, Alexander G, Guipponi, Michel, Stephani, Ulrich, Helbig, Ingo, Eichler, Evan E
Published in PLoS genetics (20.05.2010)
Published in PLoS genetics (20.05.2010)
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Journal Article
SCN3A‐Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation
Zaman, Tariq, Helbig, Katherine L., Clatot, Jérôme, 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, Vu, Thuy‐Anh, 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.
Published in Annals of neurology (01.08.2020)
Published in Annals of neurology (01.08.2020)
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Journal Article
PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics
Bayat, Allan, Knaus, Alexej, Juul, Annika Wollenberg, Dukic, Dejan, Gardella, Elena, Charzewska, Agnieszka, Clement, Emma, Hjalgrim, Helle, Hoffman-Zacharska, Dorota, Horn, Denise, Horton, Rachel, Hurst, Jane A., Josifova, Dragana, Larsen, Line H. G., Lascelles, Karine, Obersztyn, Ewa, Pagnamenta, Alistair, Pal, Deb K., Pendziwiat, Manuela, Ryten, Mina, Taylor, Jenny, Vogt, Julie, Weber, Yvonne, Krawitz, Peter M., Helbig, Ingo, Kini, Usha, Møller, Rikke S.
Published in Genetics in medicine (01.10.2019)
Published in Genetics in medicine (01.10.2019)
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