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Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference
Kidney International
2022
101
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Kreienkamp, Hans-Jürgen;Wagner, Matias;Weigand, Heike;McConkie-Rossell, Allyn;McDonald, Marie;Keren, Boris;Mignot, Cyril;Gauthier, Julie;Soucy, Jean-François;Michaud, Jacques L;Dumas, Meghan;Smith, Rosemarie;Löbel, Ulrike;Hempel, Maja;Kubisch, Christian;Denecke, Jonas;Campeau, Philippe M;Bain, Jennifer M;Lessel, Davor
Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males.
Hum Genet
2022
141
2
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Kolarova, Hana;Tan, Jing;Strom, Tim M;Meitinger, Thomas;Wagner, Matias;Klopstock, Thomas
Lifetime risk of autosomal recessive neurodegeneration with brain iron accumulation (NBIA) disorders calculated from genetic databases.
EBioMedicine
2022
77

Scala, Marcello;Wortmann, Saskia B;Kaya, Namik;Stellingwerff, Menno D;Pistorio, Angela;Glamuzina, Emma;van Karnebeek, Clara D;Skrypnyk, Cristina;Iwanicka-Pronicka, Katarzyna;Piekutowska-Abramczuk, Dorota;Ciara, Elżbieta;Tort, Frederic;Sheidley, Beth;Poduri, Annapurna;Jayakar, Parul;Jayakar, Anuj;Upadia, Jariya;Walano, Nicolette;Haack, Tobias B;Prokisch, Holger;Aldhalaan, Hesham;Karimiani, Ehsan G;Yildiz, Yilmaz;Ceylan, Ahmet C;Santiago-Sim, Teresa;Dameron, Amy;Yang, Hui;Toosi, Mehran B;Ashrafzadeh, Farah;Akhondian, Javad;Imannezhad, Shima;Mirzadeh, Hanieh S;Maqbool, Shazia;Farid, Aisha;Al-Muhaizea, Mohamed A;Alshwameen, Meznah O;Aldowsari, Lama;Alsagob, Maysoon;Alyousef, Ashwaq;AlMass, Rawan;AlHargan, Aljouhra;Alwadei, Ali H;AlRasheed, Maha M;Colak, Dilek;Alqudairy, Hanan;Khan, Sameena;Lines, Matthew A;García Cazorla, M Ángeles;Ribes, Antonia;Morava, Eva;Bibi, Farah;Haider, Shahzad;Ferla, Matteo P;Taylor, Jenny C;Alsaif, Hessa S;Firdous, Abdulwahab;Hashem, Mais;Shashkin, Chingiz;Koneev, Kairgali;Kaiyrzhanov, Rauan;Efthymiou, Stephanie;Genomics, Queen Square;Schmitt-Mechelke, Thomas;Ziegler, Andreas;Issa, Mahmoud Y;Elbendary, Hasnaa M;Striano, Pasquale;Alkuraya, Fowzan S;Zaki, Maha S;Gleeson, Joseph G;Barakat, Tahsin Stefan;Bierau, Jorgen;van der Knaap, Marjo S;Maroofian, Reza;Houlden, Henry
Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.
Hum Mutat
2022
43
3
403-419

Hsieh, Tzung-Chien;Bar-Haim, Aviram;Moosa, Shahida;Ehmke, Nadja;Gripp, Karen W;Pantel, Jean Tori;Danyel, Magdalena;Mensah, Martin Atta;Horn, Denise;Rosnev, Stanislav;Fleischer, Nicole;Bonini, Guilherme;Hustinx, Alexander;Schmid, Alexander;Knaus, Alexej;Javanmardi, Behnam;Klinkhammer, Hannah;Lesmann, Hellen;Sivalingam, Sugirthan;Kamphans, Tom;Meiswinkel, Wolfgang;Ebstein, Frédéric;Krüger, Elke;Küry, Sébastien;Bézieau, Stéphane;Schmidt, Axel;Peters, Sophia;Engels, Hartmut;Mangold, Elisabeth;Kreiß, Martina;Cremer, Kirsten;Perne, Claudia;Betz, Regina C;Bender, Tim;Grundmann-Hauser, Kathrin;Haack, Tobias B;Wagner, Matias;Brunet, Theresa;Bentzen, Heidi Beate;Averdunk, Luisa;Coetzer, Kimberly Christine;Lyon, Gholson J;Spielmann, Malte;Schaaf, Christian P;Mundlos, Stefan;Nöthen, Markus M;Krawitz, Peter M
GestaltMatcher facilitates rare disease matching using facial phenotype descriptors.
Nat Genet
2022
54
3
349-357

Hawe, Johann S;Wilson, Rory;Schmid, Katharina T;Zhou, Li;Lakshmanan, Lakshmi Narayanan;Lehne, Benjamin C;Kühnel, Brigitte;Scott, William R;Wielscher, Matthias;Yew, Yik Weng;Baumbach, Clemens;Lee, Dominic P;Marouli, Eirini;Bernard, Manon;Pfeiffer, Liliane;Matías-García, Pamela R;Autio, Matias I;Bourgeois, Stephane;Herder, Christian;Karhunen, Ville;Meitinger, Thomas;Prokisch, Holger;Rathmann, Wolfgang;Roden, Michael;Sebert, Sylvain;Shin, Jean;Strauch, Konstantin;Zhang, Weihua;Tan, Wilson L W;Hauck, Stefanie M;Merl-Pham, Juliane;Grallert, Harald;Barbosa, Eudes G V;Illig, Thomas;Peters, Annette;Paus, Tomas;Pausova, Zdenka;Deloukas, Panos;Foo, Roger S Y;Jarvelin, Marjo-Riitta;Kooner, Jaspal S;Loh, Marie;Heinig, Matthias;Gieger, Christian;Waldenberger, Melanie;Chambers, John C
Genetic variation influencing DNA methylation provides insights into molecular mechanisms regulating genomic function.
Nat Genet
2022
54
1
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Marcogliese, Paul C;Deal, Samantha L;Andrews, Jonathan;Harnish, J Michael;Bhavana, V Hemanjani;Graves, Hillary K;Jangam, Sharayu;Luo, Xi;Liu, Ning;Bei, Danqing;Chao, Yu-Hsin;Hull, Brooke;Lee, Pei-Tseng;Pan, Hongling;Bhadane, Pradnya;Huang, Mei-Chu;Longley, Colleen M;Chao, Hsiao-Tuan;Chung, Hyung-Lok;Haelterman, Nele A;Kanca, Oguz;Manivannan, Sathiya N;Rossetti, Linda Z;German, Ryan J;Gerard, Amanda;Schwaibold, Eva Maria Christina;Fehr, Sarah;Guerrini, Renzo;Vetro, Annalisa;England, Eleina;Murali, Chaya N;Barakat, Tahsin Stefan;van Dooren, Marieke F;Wilke, Martina;van Slegtenhorst, Marjon;Lesca, Gaetan;Sabatier, Isabelle;Chatron, Nicolas;Brownstein, Catherine A;Madden, Jill A;Agrawal, Pankaj B;Keren, Boris;Courtin, Thomas;Perrin, Laurence;Brugger, Melanie;Roser, Timo;Leiz, Steffen;Mau-Them, Frederic Tran;Delanne, Julian;Sukarova-Angelovska, Elena;Trajkova, Slavica;Rosenhahn, Erik;Strehlow, Vincent;Platzer, Konrad;Keller, Roberto;Pavinato, Lisa;Brusco, Alfredo;Rosenfeld, Jill A;Marom, Ronit;Wangler, Michael F;Yamamoto, Shinya
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases.
Cell Rep
2022
38
11

Vogel, Florian D;Krenn, Martin;Westphal, Dominik S;Graf, Elisabeth;Wagner, Matias;Leiz, Steffen;Koniuszewski, Filip;Augé-Stock, Maximilian;Kramer, Georg;Scholze, Petra;Ernst, Margot
A de novo missense variant in GABRA4 alters receptor function in an epileptic and neurodevelopmental phenotype.
Epilepsia
2022
63
4
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Westphal, Dominik S;Hauser, Michael;Beckmann, Britt-Maria;Wolf, Cordula M;Hessling, Gabriele;Oberhoffer-Fritz, Renate;Wacker-Gussmann, Annette
Fetal Bradycardia Caused by Monogenic Disorders-A Review of the Literature.
J Clin Med
2022
11
23

Krenn, Martin;Tomschik, Matthias;Wagner, Matias;Zulehner, Gudrun;Weng, Rosa;Rath, Jakob;Klotz, Sigrid;Gelpi, Ellen;Bsteh, Gabriel;Keritam, Omar;Colonna, Isabella;Paternostro, Chiara;Jäger, Fiona;Lindeck-Pozza, Elisabeth;Iglseder, Stephan;Grinzinger, Susanne;Schönfelder, Martina;Hohenwarter, Christina;Freimüller, Manfred;Embacher, Norbert;Wanschitz, Julia;Topakian, Raffi;Töpf, Ana;Straub, Volker;Quasthoff, Stefan;Zimprich, Fritz;Löscher, Wolfgang N;Cetin, Hakan
Clinico-genetic spectrum of limb-girdle muscular weakness in Austria: A multicentre cohort study.
Eur J Neurol
2022
29
6
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