Pesquisa | Biblioteca Virtual em Saúde

1.

Swarm Learning for decentralized and confidential clinical machine learning.

Warnat-Herresthal, Stefanie; Schultze, Hartmut; Shastry, Krishnaprasad Lingadahalli; Manamohan, Sathyanarayanan; Mukherjee, Saikat; Garg, Vishesh; Sarveswara, Ravi; Händler, Kristian; Pickkers, Peter; Aziz, N Ahmad; Ktena, Sofia; Tran, Florian; Bitzer, Michael; Ossowski, Stephan; Casadei, Nicolas; Herr, Christian; Petersheim, Daniel; Behrends, Uta; Kern, Fabian; Fehlmann, Tobias; Schommers, Philipp; Lehmann, Clara; Augustin, Max; Rybniker, Jan; Altmüller, Janine; Mishra, Neha; Bernardes, Joana P; Krämer, Benjamin; Bonaguro, Lorenzo; Schulte-Schrepping, Jonas; De Domenico, Elena; Siever, Christian; Kraut, Michael; Desai, Milind; Monnet, Bruno; Saridaki, Maria; Siegel, Charles Martin; Drews, Anna; Nuesch-Germano, Melanie; Theis, Heidi; Heyckendorf, Jan; Schreiber, Stefan; Kim-Hellmuth, Sarah; Nattermann, Jacob; Skowasch, Dirk; Kurth, Ingo; Keller, Andreas; Bals, Robert; Nürnberg, Peter; Rieß, Olaf.

Nature ; 594(7862): 265-270, 2021 06.

Artigo em Inglês | MEDLINE | ID: mdl-34040261

2.

HMGB2 Loss upon Senescence Entry Disrupts Genomic Organization and Induces CTCF Clustering across Cell Types.

Zirkel, Anne; Nikolic, Milos; Sofiadis, Konstantinos; Mallm, Jan-Philipp; Brackley, Chris A; Gothe, Henrike; Drechsel, Oliver; Becker, Christian; Altmüller, Janine; Josipovic, Natasa; Georgomanolis, Theodore; Brant, Lilija; Franzen, Julia; Koker, Mirjam; Gusmao, Eduardo G; Costa, Ivan G; Ullrich, Roland T; Wagner, Wolfgang; Roukos, Vassilis; Nürnberg, Peter; Marenduzzo, Davide; Rippe, Karsten; Papantonis, Argyris.

Mol Cell ; 70(4): 730-744.e6, 2018 05 17.

Artigo em Inglês | MEDLINE | ID: mdl-29706538

3.

Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotonia.

Asif, Maria; Khayyat, Arwa Ishaq A; Alawbathani, Salem; Abdullah, Uzma; Sanner, Anne; Georgomanolis, Theodoros; Haasters, Judith; Becker, Kerstin; Budde, Birgit; Becker, Christian; Thiele, Holger; Baig, Shahid M; Isidoro-García, María; Winter, Dominic; Pogoda, Hans-Martin; Muhammad, Sajjad; Hammerschmidt, Matthias; Kraft, Florian; Kurth, Ingo; Martin, Hilario Gomez; Wagner, Matias; Nürnberg, Peter; Hussain, Muhammad Sajid.

Genet Med ; : 101143, 2024 Apr 16.

Artigo em Inglês | MEDLINE | ID: mdl-38641995

4.

The genomic landscape across 474 surgically accessible epileptogenic human brain lesions.

López-Rivera, Javier A; Leu, Costin; Macnee, Marie; Khoury, Jean; Hoffmann, Lucas; Coras, Roland; Kobow, Katja; Bhattarai, Nisha; Pérez-Palma, Eduardo; Hamer, Hajo; Brandner, Sebastian; Rössler, Karl; Bien, Christian G; Kalbhenn, Thilo; Pieper, Tom; Hartlieb, Till; Butler, Elizabeth; Genovese, Giulio; Becker, Kerstin; Altmüller, Janine; Niestroj, Lisa-Marie; Ferguson, Lisa; Busch, Robyn M; Nürnberg, Peter; Najm, Imad; Blümcke, Ingmar; Lal, Dennis.

Brain ; 146(4): 1342-1356, 2023 04 19.

Artigo em Inglês | MEDLINE | ID: mdl-36226386

5.

Genomic ALK alterations in primary and relapsed neuroblastoma.

Rosswog, Carolina; Fassunke, Jana; Ernst, Angela; Schömig-Markiefka, Birgid; Merkelbach-Bruse, Sabine; Bartenhagen, Christoph; Cartolano, Maria; Ackermann, Sandra; Theissen, Jessica; Blattner-Johnson, Mirjam; Jones, Barbara; Schramm, Kathrin; Altmüller, Janine; Nürnberg, Peter; Ortmann, Monika; Berthold, Frank; Peifer, Martin; Büttner, Reinhard; Westermann, Frank; Schulte, Johannes H; Simon, Thorsten; Hero, Barbara; Fischer, Matthias.

Br J Cancer ; 128(8): 1559-1571, 2023 04.

Artigo em Inglês | MEDLINE | ID: mdl-36807339

6.

Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly.

Schnabel, Franziska; Schuler, Elisabeth; Al-Maawali, Almundher; Chaurasia, Ankur; Syrbe, Steffen; Al-Kindi, Adila; Bhavani, Gandham SriLakshmi; Shukla, Anju; Altmüller, Janine; Nürnberg, Peter; Banka, Siddharth; Girisha, Katta M; Li, Yun; Wollnik, Bernd; Yigit, Gökhan.

Hum Genet ; 142(4): 543-552, 2023 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-36943452

7.

Identification of pathogenic variant enriched regions across genes and gene families.

Pérez-Palma, Eduardo; May, Patrick; Iqbal, Sumaiya; Niestroj, Lisa-Marie; Du, Juanjiangmeng; Heyne, Henrike O; Castrillon, Jessica A; O'Donnell-Luria, Anne; Nürnberg, Peter; Palotie, Aarno; Daly, Mark; Lal, Dennis.

Genome Res ; 30(1): 62-71, 2020 01.

Artigo em Inglês | MEDLINE | ID: mdl-31871067

8.

Expanding the phenotypic spectrum and clinical severity associated with WLS gene.

Abdel-Salam, Ghada M H; Afifi, Hanan H; Abdel-Hamid, Mohamed S; Ahmed, Nermeen E B; Taher, Mohamed B; El-Kamah, Ghada; Thiele, Holger; Nürnberg, Peter N; Bolz, Hanno J.

J Hum Genet ; 68(9): 607-613, 2023 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-37106064

9.

Homozygous frameshift variant in desmoglein 2 gene causes biventricular arrhythmogenic right ventricular cardiomyopathy.

Noor Ul Ayan, Hafiza; Ali, Pir Sheeraz; Korejo, Asad Aslam; Thiele, Holger; Nürnberg, Peter; Tariq, Muhammad; Jamal, Syed Zahid; Erdmann, Jeanette; Ahmad, Ilyas.

Clin Genet ; 104(2): 266-268, 2023 08.

Artigo em Inglês | MEDLINE | ID: mdl-36843528

10.

Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domain.

Averdunk, Luisa; Al-Thihli, Khalid; Surowy, Harald; Lüdecke, Hermann-Josef; Drechsler, Matthias; Yigit, Gökhan; Smorag, Lukasz; Al Hallak, Bassam; Li, Yun; Altmüller, Janine; Guthoff, Tanja; Wallot, Michael; Nürnberg, Peter; Wollnik, Bernd; Jamra, Rami Abou; Al-Maawali, Almundher; Wieczorek, Dagmar.

Clin Genet ; 103(4): 484-491, 2023 04.

Artigo em Inglês | MEDLINE | ID: mdl-36576126

11.

Ganglioglioma with adverse clinical outcome and atypical histopathological features were defined by alterations in PTPN11/KRAS/NF1 and other RAS-/MAP-Kinase pathway genes.

Hoffmann, Lucas; Coras, Roland; Kobow, Katja; López-Rivera, Javier A; Lal, Dennis; Leu, Costin; Najm, Imad; Nürnberg, Peter; Herms, Jochen; Harter, Patrick N; Bien, Christian G; Kalbhenn, Thilo; Müller, Markus; Pieper, Tom; Hartlieb, Till; Kudernatsch, Manfred; Hamer, Hajo; Brandner, Sebastian; Rössler, Karl; Blümcke, Ingmar; Jabari, Samir.

Acta Neuropathol ; 145(6): 815-827, 2023 06.

Artigo em Inglês | MEDLINE | ID: mdl-36973520

12.

Mutations in TAF8 cause a neurodegenerative disorder.

Wong, Keit Men; Jepsen, Wayne M; Efthymiou, Stephanie; Salpietro, Vincenzo; Sanchez-Castillo, Meredith; Yip, Janice; Kriouile, Yamna; Diegmann, Susann; Dreha-Kulaczewski, Steffi; Altmüller, Janine; Thiele, Holger; Nürnberg, Peter; Toosi, Mehran Beiraghi; Akhondian, Javad; Ghayoor Karimiani, Ehsan; Hummel-Abmeier, Hannah; Huppke, Brenda; Houlden, Henry; Gärtner, Jutta; Maroofian, Reza; Huppke, Peter.

Brain ; 145(9): 3022-3034, 2022 09 14.

Artigo em Inglês | MEDLINE | ID: mdl-35759269

13.

Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state.

Yigit, Gökhan; Sheffer, Ruth; Daana, Muhannad; Li, Yun; Kaygusuz, Emrah; Mor-Shakad, Hagar; Altmüller, Janine; Nürnberg, Peter; Douiev, Liza; Kaulfuss, Silke; Burfeind, Peter; Wollnik, Bernd; Brockmann, Knut.

J Med Genet ; 59(6): 549-553, 2022 06.

Artigo em Inglês | MEDLINE | ID: mdl-34172529

14.

Sensitivity and specificity of loss of heterozygosity analysis for the classification of rare germline variants in BRCA1/2: results of the observational AGO-TR1 study (NCT02222883).

Hauke, Jan; Harter, Philipp; Ernst, Corinna; Burges, Alexander; Schmidt, Sandra; Reuss, Alexander; Borde, Julika; De Gregorio, Nikolaus; Dietrich, Dimo; El-Balat, Ahmed; Kayali, Mohamad; Gevensleben, Heidrun; Hilpert, Felix; Altmüller, Janine; Heimbach, André; Meier, Werner; Schoemig-Markiefka, Birgid; Thiele, Holger; Kimmig, Rainer; Nürnberg, Peter; Kast, Karin; Richters, Lisa; Sehouli, Jalid; Schmutzler, Rita K; Hahnen, Eric.

J Med Genet ; 59(3): 248-252, 2022 03.

Artigo em Inglês | MEDLINE | ID: mdl-33273034

15.

Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis.

Balogh, Eszter; Chandler, Jennifer C; Varga, Máté; Tahoun, Mona; Menyhárd, Dóra K; Schay, Gusztáv; Goncalves, Tomas; Hamar, Renáta; Légrádi, Regina; Szekeres, Ákos; Gribouval, Olivier; Kleta, Robert; Stanescu, Horia; Bockenhauer, Detlef; Kerti, Andrea; Williams, Hywel; Kinsler, Veronica; Di, Wei-Li; Curtis, David; Kolatsi-Joannou, Maria; Hammid, Hafsa; Szocs, Anna; Perczel, Kristóf; Maka, Erika; Toldi, Gergely; Sava, Florentina; Arrondel, Christelle; Kardos, Magdolna; Fintha, Attila; Hossain, Ahmed; D'Arco, Felipe; Kaliakatsos, Mario; Koeglmeier, Jutta; Mifsud, William; Moosajee, Mariya; Faro, Ana; Jávorszky, Eszter; Rudas, Gábor; Saied, Marwa H; Marzouk, Salah; Kelen, Kata; Götze, Judit; Reusz, George; Tulassay, Tivadar; Dragon, François; Mollet, Géraldine; Motameny, Susanne; Thiele, Holger; Dorval, Guillaume; Nürnberg, Peter.

Proc Natl Acad Sci U S A ; 117(26): 15137-15147, 2020 06 30.

Artigo em Inglês | MEDLINE | ID: mdl-32554502

16.

WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly.

Bögershausen, Nina; Krawczyk, Hannah E; Jamra, Rami A; Lin, Sheng-Jia; Yigit, Gökhan; Hüning, Irina; Polo, Anna M; Vona, Barbara; Huang, Kevin; Schmidt, Julia; Altmüller, Janine; Luppe, Johannes; Platzer, Konrad; Dörgeloh, Beate B; Busche, Andreas; Biskup, Saskia; Mendes, Marisa I; Smith, Desiree E C; Salomons, Gajja S; Zibat, Arne; Bültmann, Eva; Nürnberg, Peter; Spielmann, Malte; Lemke, Johannes R; Li, Yun; Zenker, Martin; Varshney, Gaurav K; Hillen, Hauke S; Kratz, Christian P; Wollnik, Bernd.

Hum Mutat ; 43(10): 1454-1471, 2022 10.

Artigo em Inglês | MEDLINE | ID: mdl-35790048

17.

Transmission ratio distortion of mutations in the master regulator of centriole biogenesis PLK4.

Neitzel, Heidemarie; Varon, Raymonda; Chughtai, Sana; Dartsch, Josephine; Dutrannoy-Tönsing, Véronique; Nürnberg, Peter; Nürnberg, Gudrun; Schweiger, Michal; Digweed, Martin; Hildebrand, Gabriele; Hackmann, Karl; Holtgrewe, Manuel; Sarioglu, Nanette; Schulze, Bernt; Horn, Denise; Sperling, Karl.

Hum Genet ; 141(11): 1785-1794, 2022 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-35536377

18.

Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta.

Moosa, Shahida; Yamamoto, Guilherme L; Garbes, Lutz; Keupp, Katharina; Beleza-Meireles, Ana; Moreno, Carolina Araujo; Valadares, Eugenia Ribeiro; de Sousa, Sérgio B; Maia, Sofia; Saraiva, Jorge; Honjo, Rachel S; Kim, Chong Ae; Cabral de Menezes, Hamilton; Lausch, Ekkehart; Lorini, Pablo Villavicencio; Lamounier, Arsonval; Carniero, Tulio Canella Bezerra; Giunta, Cecilia; Rohrbach, Marianne; Janner, Marco; Semler, Oliver; Beleggia, Filippo; Li, Yun; Yigit, Gökhan; Reintjes, Nadine; Altmüller, Janine; Nürnberg, Peter; Cavalcanti, Denise P; Zabel, Bernhard; Warman, Matthew L; Bertola, Debora R; Wollnik, Bernd; Netzer, Christian.

Am J Hum Genet ; 105(4): 836-843, 2019 10 03.

Artigo em Inglês | MEDLINE | ID: mdl-31564437

19.

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.

Martin, Carol-Anne; Sarlós, Kata; Logan, Clare V; Thakur, Roshan Singh; Parry, David A; Bizard, Anna H; Leitch, Andrea; Cleal, Louise; Ali, Nadia Shaukat; Al-Owain, Mohammed A; Allen, William; Altmüller, Janine; Aza-Carmona, Miriam; Barakat, Bushra A Y; Barraza-García, Jimena; Begtrup, Amber; Bogliolo, Massimo; Cho, Megan T; Cruz-Rojo, Jaime; Mundi Dhahrabi, Hassan Ali; Elcioglu, Nursel H; Gorman, Gráinne S; Jobling, Rebekah; Kesterton, Ian; Kishita, Yoshihito; Kohda, Masakazu; Le Quesne Stabej, Polona; Malallah, Asam Jassim; Nürnberg, Peter; Ohtake, Akira; Okazaki, Yasushi; Pujol, Roser; Ramirez, Maria José; Revah-Politi, Anya; Shimura, Masaru; Stevens, Paul; Taylor, Robert W; Turner, Lesley; Williams, Hywel; Wilson, Carolyn; Yigit, Gökhan; Zahavich, Laura; Alkuraya, Fowzan S; Surralles, Jordi; Iglesias, Alejandro; Murayama, Kei; Wollnik, Bernd; Dattani, Mehul; Heath, Karen E; Hickson, Ian D.

Am J Hum Genet ; 111(5): 996, 2024 May 02.

Artigo em Inglês | MEDLINE | ID: mdl-38701747

20.

Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling.

Dufour, William; Alawbathani, Salem; Jourdain, Anne-Sophie; Asif, Maria; Baujat, Geneviève; Becker, Christian; Budde, Birgit; Gallacher, Lyndon; Georgomanolis, Theodoros; Ghoumid, Jamal; Höhne, Wolfgang; Lyonnet, Stanislas; Ba-Saddik, Iman Ali; Manouvrier-Hanu, Sylvie; Motameny, Susanne; Noegel, Angelika A; Pais, Lynn; Vanlerberghe, Clémence; Wagle, Prerana; White, Susan M; Willems, Marjolaine; Nürnberg, Peter; Escande, Fabienne; Petit, Florence; Hussain, Muhammad Sajid.

Genet Med ; 24(8): 1708-1721, 2022 08.

Artigo em Inglês | MEDLINE | ID: mdl-35583550

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