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ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations Laugwitz, Lucia; Cheng, Fubo; Collins, Stephan C.; Hustinx, Alexander; Navarro, Nicolas; Welsch, Simon; Cox, Helen; Hsieh, Tzung-Chien; Vijayananth, Aswinkumar; Buchert, Rebecca; Bender, Benjamin; Efthymiou, Stephanie; Murphy, David; Zafar, Faisal; Rana, Nuzhat; Grasshoff, Ute; Falb, Ruth J.; Grimmel, Mona; Seibt, Annette; Zheng, Wenxu; Ghaedi, Hamid; Thirion, Marie; Couette, Sebastien; Azizimalamiri, Reza; Sadeghian, Saeid; Galehdari, Hamid; Zamani, Mina; Zeighami, Jawaher; Sedaghat, Alireza; Ramshe, Samira Molaei; Zare, Ali; Alipoor, Behnam; Klee, Dirk; Sturm, Marc; Ossowski, Stephan; Houlden, Henry; Riess, Olaf; Wieczorek, Dagmar; Gavin, Ryan; Maroofian, Reza; Krawitz, Peter; Yalcin, Binnaz; Distelmaier, Felix; Haack, Tobias B. Share Save
De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood Reijnders, Margot R. F.; Seibt, Annette; Brugger, Melanie; Lamers, Ideke J. C.; Ott, Torsten; Klaas, Oliver; Horvath, Judit; Rose, Ailsa M. S.; Craghill, Isabel M.; Brunet, Theresa; Graf, Elisabeth; Mayerhanser, Katharina; Hellebrekers, Debby; Pauck, David; Neuen-Jacob, Eva; Rodenburg, Richard J. T.; Wieczorek, Dagmar; Klee, Dirk; Mayatepek, Ertan; Driessen, Gertjan; Bindermann, Robert; Averdunk, Luisa; Lohmeier, Klaus; Sinnema, Margje; Stegmann, Alexander P. A.; Roepman, Ronald; Poulter, James A.; Distelmaier, Felix Share Save
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Spirometry-based reconstruction of real-time cardiac MRI: Motion control and quantification of heart-lung interactions Roewer, Lena Maria; Uelwer, Tobias; Hussmann, Janina; Malik, Halima; Eichinger, Monika; Voit, Dirk; Wielpuetz, Mark Oliver; Frahm, Jens; Harmeling, Stefan; Klee, Dirk; Pillekamp, Frank Share Save
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Deep Learning-Based Post-Processing of Real-Time MRI to Assess and Quantify Dynamic Wrist Movement in Health and Disease Radke, Karl Ludger; Wollschlager, Lena Marie; Nebelung, Sven; Abrar, Daniel Benjamin; Schleich, Christoph; Boschheidgen, Matthias; Frenken, Miriam; Schock, Justus; Klee, Dirk; Frahm, Jens; Antoch, Gerald; Thelen, Simon; Wittsack, Hans-Jorg; Muller-Lutz, Anja Share Save
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder Brunet, Theresa; McWalter, Kirsty; Mayerhanser, Katharina; Anbouba, Grace M.; Armstrong-Javors, Amy; Bader, Ingrid; Baugh, Evan; Begtrup, Amber; Bupp, Caleb P.; Callewaert, Bert L.; Cereda, Anna; Cousin, Margot A.; Jimenez, Juan C. Del Rey; Demmer, Laurie; Dsouza, Nikita R.; Fleischer, Nicole; Gavrilova, Ralitza H.; Ghate, Sumedha; Graf, Elisabeth; Green, Andrew; Green, Sarah R.; Iascone, Maria; Kdissa, Ameni; Klee, Dirk; Klee, Eric W.; Lancaster, Emily; Lindstrom, Kristin; Mayr, Johannes A.; McEntagart, Meriel; Meeks, Naomi J. L.; Mittag, Dana; Moore, Harrison; Olsen, Anne K.; Ortiz, Damara; Parsons, Gretchen; Pena, Loren D. M.; Person, Richard E.; Punj, Sumit; Ramos-Rivera, Gonzalo Alonso; Sacoto, Maria J. Guillen; Bradley Schaefer, G.; Schnur, Rhonda E.; Scott, Tiana M.; Scott, Daryl A.; Serbinski, Carolyn R.; Shashi, Vandana; Siu, Victoria M.; Stadheim, Barbro Fossoy; Sullivan, Jennifer A.; Svantnerova, Jana; Velsher, Lea; Wargowski, David S.; Wentzensen, Ingrid M.; Wieczorek, Dagmar; Winkelmann, Juliane; Yap, Patrick; Zech, Michael; Zimmermann, Michael T.; Meitinger, Thomas; Distelmaier, Felix; Wagner, Matias Share Save
Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities Wagner, Matias; Skorobogatko, Yuliya; Pode-Shakked, Ben; Powell, Cynthia M.; Alhaddad, Bader; Seibt, Annette; Barel, Ortal; Heimer, Gali; Hoffmann, Chen; Demmer, Laurie A.; Perilla-Young, Yezmin; Remke, Marc; Wieczorek, Dagmar; Navaratnarajah, Tharsini; Lichtner, Peter; Klee, Dirk; Shamseldin, Hanan E.; Al Mutairi, Fuad; Mayatepek, Ertan; Strom, Tim; Meitinger, Thomas; Alkuraya, Fowzan S.; Anikster, Yair; Saltiel, Alan R.; Distelmaier, Felix Share Save
Choline transporter-like I deficiency causes a new type of childhood-onset neurodegeneration Fagerberg, Christina R.; Taylor, Adrian; Distelmaier, Felix; Schroder, Henrik D.; Kibaek, Maria; Wieczorek, Dagmar; Tarnopolsky, Mark; Brady, Lauren; Larsen, Martin J.; Jamra, Rami A.; Seibt, Annette; Hejbol, Eva Kildall; Gade, Else; Markovic, Ljubo; Klee, Dirk; Nagy, Peter; Rouse, Nicholas; Agarwal, Prasoon; Dolinsky, Vernon W.; Bakovic, Marica Share Save
Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration Preising, Markus N.; Goerg, Boris; Friedburg, Christoph; Qvartskhava, Natalia; Budde, Birgit S.; Bonus, Michele; Toliat, Mohammad R.; Pfleger, Christopher; Altmueller, Janine; Herebian, Diran; Beyer, Mila; Zoellner, Helge J.; Wittsack, Hans-Joerg; Schaper, Joerg; Klee, Dirk; Zechner, Ulrich; Nuernberg, Peter; Schipper, Joerg; Schnitzler, Alfons; Gohlke, Holger; Lorenz, Birgit; Haeussinger, Dieter; Bolz, Hanno J. Share Save
Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities Herebian, Diran; Alhaddad, Bader; Seibt, Annette; Schwarzmayr, Thomas; Danhauser, Katharina; Klee, Dirk; Harmsen, Stefani; Meitinger, Thomas; Strom, Tim M.; Schulz, Ansgar; Mayatepek, Ertan; Haack, Tobias B.; Distelmaier, Felix Share Save
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NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood Kremer, Laura S.; Danhauser, Katharina; Herebian, Diran; Ramadza, Danijela Petkovic; Piekutowska-Abramczuk, Dorota; Seibt, Annette; Mueller-Felber, Wolfgang; Haack, Tobias B.; Ploski, Rafal; Lohmeier, Klaus; Schneider, Dominik; Klee, Dirk; Rokicki, Dariusz; Mayatepek, Ertan; Strom, Tim M.; Meitinger, Thomas; Klopstock, Thomas; Pronicka, Ewa; Mayr, Johannes A.; Baric, Ivo; Distelmaier, Felix; Prokisch, Holger Share Save
EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum Danhauser, Katharina; Haack, Tobias B.; Alhaddad, Bader; Melcher, Marlen; Seibt, Annette; Strom, Tim M.; Meitinger, Thomas; Klee, Dirk; Mayatepek, Ertan; Prokisch, Holger; Distelmaier, Felix Share Save
Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9 Danhauser, Katharina; Herebian, Diran; Haack, Tobias B.; Rodenburg, Richard J.; Strom, Tim M.; Meitinger, Thomas; Klee, Dirk; Mayatepek, Ertan; Prokisch, Holger; Distelmaier, Felix Share Save
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