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Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants.
Neurol Genet
2024
10
2

Schmidt, Axel;Casadei, Nicolas;Brand, Fabian;Demidov, German;Vojgani, Elaheh;Abolhassani, Ayda;Aldisi, Rana;Butler-Laporte, Guillaume;Alawathurage, T Madhusankha;Augustin, Max;Bals, Robert;Bellinghausen, Carla;Berger, Marc Moritz;Bitzer, Michael;Bode, Christian;Boos, Jannik;Brenner, Thorsten;Cornely, Oliver A;Eggermann, Thomas;Erber, Johanna;Feldt, Torsten;Fuchsberger, Christian;Gagneur, Julien;Göpel, Siri;Haack, Tobias;Häberle, Helene;Hanses, Frank;Heggemann, Julia;Hehr, Ute;Hellmuth, Johannes C;Herr, Christian;Hinney, Anke;Hoffmann, Per;Illig, Thomas;Jensen, Björn-Erik Ole;Keitel, Verena;Kim-Hellmuth, Sarah;Koehler, Philipp;Kurth, Ingo;Lanz, Anna-Lisa;Latz, Eicke;Lehmann, Clara;Luedde, Tom;Maj, Carlo;Mian, Michael;Miller, Abigail;Muenchhoff, Maximilian;Pink, Isabell;Protzer, Ulrike;Rohn, Hana;Rybniker, Jan;Scaggiante, Federica;Schaffeldt, Anna;Scherer, Clemens;Schieck, Maximilian;Schmidt, Susanne V;Schommers, Philipp;Spinner, Christoph D;Vehreschild, Maria J G T;Velavan, Thirumalaisamy P;Volland, Sonja;Wilfling, Sibylle;Winter, Christof;Richards, J Brent;Heimbach, André;Becker, Kerstin;Ossowski, Stephan;Schultze, Joachim L;Nürnberg, Peter;Nöthen, Markus M;Motameny, Susanne;Nothnagel, Michael;Riess, Olaf;Schulte, Eva C;Ludwig, Kerstin U
Systematic assessment of COVID-19 host genetics using whole genome sequencing data.
PLoS Pathog
2024
20
12

Kirchberg, Ina;Lainka, Elke;Gangfuß, Andrea;Kuechler, Alma;Baertling, Fabian;Schlieben, Lea D;Lenz, Dominic;Tschiedel, Eva
Distinct neonatal hyperammonemia and liver synthesis dysfunction: case report of a severe MEGDHEL syndrome.
Front Pediatr
2024
12

Badmann, Susann;Castrop, Florian;Brugger, Melanie;Winkelmann, Juliane;Zech, Michael
Adult-Onset Parkinsonism as Late Manifestation of HIVEP2-Associated Developmental Disorder.
Mov Disord Clin Pract
2024
11
9
1163-1165

Harrer, Philip;Inderhees, Julica;Zhao, Chen;Schormair, Barbara;Tilch, Erik;Gieger, Christian;Peters, Annette;Jöhren, Olaf;Fleming, Thomas;Nawroth, Peter P;Berger, Klaus;Hermesdorf, Marco;Winkelmann, Juliane;Schwaninger, Markus;Oexle, Konrad
Phenotypic and genome-wide studies on dicarbonyls: major associations to glomerular filtration rate and gamma-glutamyltransferase activity.
EBioMedicine
2024
101

Suzuki, Ken;Hatzikotoulas, Konstantinos;Southam, Lorraine;Taylor, Henry J;Yin, Xianyong;Lorenz, Kim M;Mandla, Ravi;Huerta-Chagoya, Alicia;Melloni, Giorgio E M;Kanoni, Stavroula;Rayner, Nigel W;Bocher, Ozvan;Arruda, Ana Luiza;Sonehara, Kyuto;Namba, Shinichi;Lee, Simon S K;Preuss, Michael H;Petty, Lauren E;Schroeder, Philip;Vanderwerff, Brett;Kals, Mart;Bragg, Fiona;Lin, Kuang;Guo, Xiuqing;Zhang, Weihua;Yao, Jie;Kim, Young Jin;Graff, Mariaelisa;Takeuchi, Fumihiko;Nano, Jana;Lamri, Amel;Nakatochi, Masahiro;Moon, Sanghoon;Scott, Robert A;Cook, James P;Lee, Jung-Jin;Pan, Ian;Taliun, Daniel;Parra, Esteban J;Chai, Jin-Fang;Bielak, Lawrence F;Tabara, Yasuharu;Hai, Yang;Thorleifsson, Gudmar;Grarup, Niels;Sofer, Tamar;Wuttke, Matthias;Sarnowski, Chloé;Gieger, Christian;Nousome, Darryl;Trompet, Stella;Kwak, Soo-Heon;Long, Jirong;Sun, Meng;Tong, Lin;Chen, Wei-Min;Nongmaithem, Suraj S;Noordam, Raymond;Lim, Victor J Y;Tam, Claudia H T;Joo, Yoonjung Yoonie;Chen, Chien-Hsiun;Raffield, Laura M;Prins, 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Nature
2024
627
8003
347-357

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Publisher Correction: Understanding the genetic complexity of puberty timing across the allele frequency spectrum.
Nat Genet
2024
56
8
1763-1764

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GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.
Res Sq
2024

Cavestro, Chiara;Morra, Francesca;Legati, Andrea;D'Amato, Marco;Nasca, Alessia;Iuso, Arcangela;Lubarr, Naomi;Morrison, Jennifer L;Wheeler, Patricia G;Serra-Juhé, Clara;Rodríguez-Santiago, Benjamín;Turón-Viñas, Eulalia;Prouteau, Clement;Barth, Magalie;Hayflick, Susan J;Ghezzi, Daniele;Tiranti, Valeria;Di Meo, Ivano
Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY-associated diseases.
Ann Clin Transl Neurol
2024
11
6
1615-1629

Savige, Judy;Storey, Helen;Watson, Elizabeth;Hertz, Jens Michael;Deltas, Constantinos;Renieri, Alessandra;Mari, Francesca;Hilbert, Pascale;Plevova, Pavlina;Byers, Peter;Cerkauskaite, Agne;Gregory, Martin;Cerkauskiene, Rimante;Ljubanovic, Danica Galesic;Becherucci, Francesca;Errichiello, Carmela;Massella, Laura;Aiello, Valeria;Lennon, Rachel;Hopkinson, Louise;Koziell, Ania;Lungu, Adrian;Rothe, Hansjorg Martin;Hoefele, Julia;Zacchia, Miriam;Martic, Tamara Nikuseva;Gupta, Asheeta;van Eerde, Albertien;Gear, Susie;Landini, Samuela;Palazzo, Viviana;Al-Rabadi, Laith;Claes, Kathleen;Corveleyn, Anniek;Van Hoof, Evelien;van Geel, Micheel;Williams, Maggie;Ashton, Emma;Belge, Hendica;Ars, Elisabeth;Bierzynska, Agnieszka;Gangemi, Concetta;Lipska-Ziętkiewicz, Beata S
Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria.
Eur J Hum Genet
2024
32
1