Helbig, Katherine L.
https://orcid.org/0000-0001-8249-0549
Mayo Clinic
Centre National de la Recherche Scientifique
Citations 3
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients
Bryant, Laura , Li, Dong , Cox, Samuel G., Wilson, Khadija , Janssen, Kevin A. , March, Michael , Sherr, Elliott H. , Fregeau, Brieana, Wierenga, Klaas J. , Wadley, Alexandrea, Mancini, Grazia M.S., Powell‐Hamilton, Nina , Kamp, Jiddeke van de, Grebe, Theresa A., Ross, Alison , Crawford, Heather P., Powis, Zöe , Cho, Megan T. , Willing, Marcia, Schot, Rachel , Afenjar, Alexandra , Lessel, Davor , Wagner, Matias , Klopstock, Thomas , Winkelmann, Juliane , Retterer, Kyle , Schuette, Jane L., Innis, Jeffrey W. , Pizzino, Amy , Lüttgen, Sabine, Denecke, Jonas , Strom, Tim M., Monaghan, Kristin G. , Study, DDD, Yuan, Zuo‐Fei , Dubbs, Holly , Bend, Renee, Lee, Jennifer A. , Lyons, Michael J. , Hoefele, Julia , Günthner, Roman , Keren, Boris , Radtke, Kelly, Sherbini, Omar , Mrokse, Cameron, Helbig, Katherine L. , Odent, Sylvie , Mercier, Sandra , Küry, Sébastien , Redon, Richard , Reinson, Karit , Wojcik, Monica H. , Õunap, Katrin , Ilves, Pilvi , Innes, A. Micheil , Kernohan, Kristin D. , Costain, Gregory , Zackai, Elaine H. , Kitson, Hilary, Study, CAUSES, Martin, Martin G., Martínez-Agosto, Julián A. , Network, Undiagnosed Diseases, Nelson, Stan F., Palmer, Christina G.S. , Papp, Jeanette C. , Parker, Neil H., Wan, Jijun , Yoon, Amanda J., Zheng, Allison, Carli, Diana , Brusco, Alfredo , Tartaglia, Marco , Thomas, Jennifer Muncy, Weiss, Marjan M. , Gotway, Garrett , Stuurman, Kyra E. , Thompson, Michelle L. , Stumpel, Constance T. R. M., Stevens, Servi J.C. , Stegmann, Alexander P.A. , Tveten, Kristian , Vøllo, Arve, Prescott, Trine , Fagerberg, Christina , Laulund, Lone Walentin , Larsen, Martin J. , Byler, Melissa, Lebel, Robert Roger, Dean, Joy, Mercimek‐Andrews, Saadet , Neira, Juanita, Allen, Margot I. Van, Sellars, Elizabeth A. , Louie, Raymond J. , Cathey, Sara , Brokamp, Elly , Héron, Delphine, Snyder, Molly, Simon, Celeste, Cruz, Xavier de la , Padilla, Natàlia , García, Benjamin A. , Håkonarson, Håkon , Bhoj, Elizabeth , Nelson, Stanley F. , Sherr, Elliott , Dean, John , Lessel, Davor , Klopstock, Thomas , Kury, Sebastien , Brusco, Alfredo , McWalter, Kirsty , Stevens, Servi J C , Crump, J Gage , Hakonarson, Hakon , Bhoj, Elizabeth J , Tartaglia, Marco , Li, Dong , Wagner, Matias , Redon, Richard , Õunap, Katrin , de la Cruz, Xavier , Padilla, Natália , March, Michael , Hoefele, Julia , Marchione, Dylan M. , Joiner, Evan F. , Lee, Pearl , Nair, Divya, Kamp, Jiddeke M. van de , Manwaring, Linda P. , Nava, Caroline , Catarino, Claudia B. , Monaghan, Kristin G. , Study, DDD, Reutter, Heiko , Radtke, Kelly , Cogné, Benjamin , Bezieau, Stéphane , Besnard, Thomas , Meyn, M Stephen , Chitayat, David A. , Lehman, Anna , Study, CAUSES, Network, Undiagnosed Diseases, Sinsheimer, Janet S. , Vilain, Eric J. N. , Brimble, Elise , Ferrero, Giovanni Battista , Radio, Francesca Clementina , Barresi, Sabina , Umaña, Luis Alfredo , Hurst, Anna , Vergano, Samantha A. Schrier , Norman, Jennifer, Longo, Nicola , Vanderver, Adeline , Chung, Wendy K.
Science Advances | December 3, 2020 | Volume: 6 | Issue: 49 | Pages: No page available
Germ line mutations in H3F3A and H3F3B cause a previously unidentified neurodevelopmental syndrome.
HCN1mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond
Marini, Carla , Porro, Alessandro , Rastetter, Agnès, Dalle, Carine, Rivolta, Ilaria , Bauer, Daniel , Oegema, Renske , Nava, Caroline , Parrini, Elena , Mei, Davide , Mercer, Catherine , Dhamija, Radhika , Chambers, Chelsea , Coubes, Christine, Kuentz, Paul , Julia, Sophie , Pasquier, Laurent , Dubourg, Christèle , Carré, Wilfrid , Melani, Federico , Giardino, Maria , Innes, A. Micheil , Alembik, Yves, Scheidecker, Sophie , Figueiroa, Sónia, Garrido, Cristina , Fusco, Carlo , Spagnoli, Carlotta , Binda, Anna , Granata, Tiziana , Ragona, Francesca , Freri, Elena , Franceschetti, Silvana , Canafoglia, Laura , Castellotti, Barbara , Gellera, Cinzia , Milanesi, Raffaella , Mancardi, Maria Margherita , Clark, Damien R, Helbig, Katherine L. , Ichikawa, Shoji , Sadler, Laurie S. , Neupauerová, Jana, Laššuthová, Petra , Štěrbová, Katalin , Laridon, Annick, Brilstra, Eva H. , Koeleman, Bobby P.C. , Striano, Pasquale, Soblet, Julie , Deconinck, Nicolas , Leguern, Éric , Guerrini, Renzo , Santoro, Bina , Hamacher, Kay , Moroni, Anna , DiFrancesco, Jacopo C. , Depienne, Christel , Guerrini, Renzo , Mei, Davide , Pasquier, Laurent , Thévenon, Julien , Rosati, Anna Maria , Pisano, Tiziana , Santos, Manuela M. , Frattini, Daniele , Clark, Damien R., Kok, Fernando , Lemke, Johannes R. , Zara, Federico , Smits, Guillaume , Barbuti, Andrea , DiFrancesco, Dario , Thiel, Gerhard , Depienne, Christel , Dhamija, Radhika
Brain | September 26, 2018 | Volume: 141 | Issue: 11 | Pages: 3160-3178
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders
Wolff, Markus , Johannesen, Katrine M. , Hedrich, Ulrike B. S. , Masnada, Silvia , Rubboli, Guido , Gardella, Elena , Lesca, Gaëtan , Ville, Dorothée , Milh, Mathieu , Villard, Laurent , Afenjar, Alexandra , Chantot‐Bastaraud, Sandra , Mignot, Cyril , Lardennois, Caroline, Nava, Caroline , Schwarz, Niklas , Gérard, Marion , Perrin, Laurence, Doummar, Diane , Miranda, María J., Hempel, Maja , Brilstra, Eva H. , Knoers, Nine, Verbeek, Nienke E., Kempen, Marjan van, Braun, Kees P. J. , Mancini, Grazia M.S. , Biskup, Saskia, Hörtnagel, Konstanze , Döcker, Miriam, Bast, Thomas , Loddenkemper, Tobias , Baumeister, Friedrich, Fazeli, Walid , Striano, Pasquale, Dilena, Robertino , Fontana, Elena , Zara, Federico , Kurlemann, Gerhard, Klepper, Joerg , Thoene, Jess G. , Arndt, Daniel H. , Deconinck, Nicolas , Schmitt‐Mechelke, Thomas , Muhle, Hiltrud, Wical, Beverly, Finetti, C., Brückner, Reinhard , Pietz, Joachim, Golla, G., Jillella, Dinesh , Linnet, Karen Markussen, Charles, Perrine , Moog, Ute , Õiglane‐Shlik, Eve, Mantovani, John F., Park, Kristen , Deprez, Marie, Lederer, Damien , Mary, Sandrine, Scalais, Emmanuel , Selim, Laila , Coster, Rudy Van , Lagae, Lieven , Nikanorova, Marina , Hjalgrim, Helle , Korenke, Georg-Christoph , Trivisano, Marina , Specchio, Nicola , Ceulemans, Berten , Dorn, Thomas, Helbig, Katherine L. , Hardies, Katia, Stamberger, Hannah , Jonghe, Peter De, Weckhuysen, Sarah , Kluger, Gerhard , Møller, Rikke S. , Wong-Kisiel, Lily, Auvin, Stéphane , Kempen, Marjan J. A. van, Wong‐Kisiel, Lily C. , Maier, Oliver , Lemke, Johannes R. , Krägeloh‐Mann, Ingeborg , Helbig, Ingo , Lerche, Holger , Loddenkemper, Tobias , Villard, Laurent , Rubboli, Guido , Schwarz, Niklas , Specchio, Nicola , Gardella, Elena , Lesca, Gaetan , Møller, Rikke S , Jillella, Dinesh V
Brain | February 23, 2017 | Volume: 140 | Issue: 5 | Pages: 1316-1336