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Asif, Maria, Kaygusuz, Emrah, Shinawi, Marwan, Nickelsen, Anna, Hsieh, Tzung-Chien, Wagle, Prerana, Budde, Birgit S., Hochscherf, Jennifer ORCID: 0000-0002-4412-7391, Abdullah, Uzma, Honing, Stefan, Nienberg, Christian, Lindenblatt, Dirk, Noegel, Angelika A., Altmuller, Janine
ORCID: 0000-0003-4372-1521, Thiele, Holger, Motameny, Susanne, Fleischer, Nicole, Segal, Idan, Pais, Lynn, Tinschert, Sigrid, Samra, Nadra Nasser, Savatt, Juliann M., Rudy, Natasha L., De Luca, Chiara, Fortugno, Paola, White, Susan M., Krawitz, Peter, Hurst, Anna C. E., Niefind, Karsten
ORCID: 0000-0002-0183-6315, Jose, Joachim
ORCID: 0000-0002-0666-2676, Brancati, Francesco, Nurnberg, Peter and Hussain, Muhammad Sajid
ORCID: 0000-0002-1353-8809
(2022).
De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway.
Hum. Genet. Genom. Adv., 3 (3).
AMSTERDAM:
ELSEVIER.
ISSN 2666-2477
Balogh, Eszter ORCID: 0000-0003-2813-4759, Chandler, Jennifer C.
ORCID: 0000-0001-9785-4528, Varga, Mate
ORCID: 0000-0003-4289-1705, Tahoun, Mona, Menyhard, Dora K., Schay, Gusztav, Goncalves, Tomas
ORCID: 0000-0002-3342-0461, Hamar, Renata, Legradi, Regina
ORCID: 0000-0002-5634-4000, Szekeres, Akos, 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, Kristof, 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, Javorszky, Eszter, Rudas, Gabor, Saied, Marwa H., Marzouk, Salah, Kelen, Kata, Gotze, Judit, Reusz, George, Tulassay, Tivadar, Dragon, Francois, Mollet, Geraldine, Motameny, Susanne, Thiele, Holger
ORCID: 0000-0002-0169-998X, Dorval, Guillaume
ORCID: 0000-0003-3883-1398, Nurnberg, Peter, Perczel, Andras, Szabo, Attila J., Long, David A., Tomita, Kazunori, Antignac, Corinne, Waters, Aoife M. and Tory, Kalman
(2020).
Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis.
Proc. Natl. Acad. Sci. U. S. A., 117 (26).
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WASHINGTON:
NATL ACAD SCIENCES.
ISSN 0027-8424
Blume, Felix, Kirsten, Holger ORCID: 0000-0002-3126-7950, Ahnert, Peter
ORCID: 0000-0002-1771-0856, Chakraborty, Trinad, Gross, Arnd
ORCID: 0000-0002-5961-5507, Horn, Katrin, Toliat, Mohammad Reza, Nurnberg, Peter, Westenfelder, Eva-Maria, Goepel, Wolfgang and Scholz, Markus
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Verification of immunology-related genetic associations in BPD supports ABCA3 and five other genes.
Pediatr. Res..
LONDON:
SPRINGERNATURE.
ISSN 1530-0447
Borck, Guntram, Hog, Friederike, Dentici, Maria Lisa, Tan, Perciliz L., Sowada, Nadine, Medeira, Ana, Gueneau, Lucie, Thiele, Holger, Kousi, Maria, Lepri, Francesca, Wenzeck, Larissa, Blumenthal, Ian, Radicioni, Antonio, Schwarzenberg, Tito Livio, Mandriani, Barbara ORCID: 0000-0002-4139-0602, Fischetto, Rita, Morris-Rosendahl, Deborah J., Altmuller, Janine, Reymond, Alexandre, Nurnberg, Peter, Merla, Giuseppe, Dallapiccola, Bruno
ORCID: 0000-0002-5031-1013, Katsanis, Nicholas
ORCID: 0000-0002-2480-0171, Cramer, Patrick and Kubisch, Christian
ORCID: 0000-0003-4220-0978
(2015).
BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies.
Genome Res., 25 (2).
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COLD SPRING HARBOR:
COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT.
ISSN 1549-5469
Dumont, Martine ORCID: 0000-0002-5488-4839, Weber-Lassalle, Nana, Joly-Beauparlant, Charles, Ernst, Corinna
ORCID: 0000-0001-7756-8815, Droit, Arnaud, Feng, Bing-Jian, Dubois, Stephane, Collin-Deschesnes, Annie-Claude, Soucy, Penny, Vallee, Maxime, Fournier, Frederic, Lemacon, Audrey, Adank, Muriel A., Allen, Jamie, Altmueller, Janine, Arnold, Norbert, Ausems, Margreet G. E. M., Berutti, Riccardo, Bolla, Manjeet K., Bull, Shelley
ORCID: 0000-0002-3280-7154, Carvalho, Sara, Cornelissen, Sten, Dufault, Michael R., Dunning, Alison M., Engel, Christoph
ORCID: 0000-0002-7247-282X, Gehrig, Andrea, Geurts-Giele, Willemina R. R., Gieger, Christian, Green, Jessica, Hackmann, Karl, Helmy, Mohamed, Hentschel, Julia, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hooning, Maartje J., Horvath, Judit, Ikram, M. Arf An, Kaulfuss, Silke
ORCID: 0000-0003-2577-9711, Keeman, Renske, Kuang, Da, Luccarini, Craig, Maier, Wolfgang, Martens, John W. M., Niederacher, Dieter, Nurnberg, Peter
ORCID: 0000-0002-7228-428X, Ott, Claus-Eric, Peters, Annette
ORCID: 0000-0001-6645-0985, Pharoah, Paul D. P., Ramirez, Alfredo
ORCID: 0000-0003-4991-763X, Ramser, Juliane, Riedel-Heller, Steffi, Schmidt, Gunnar, Shah, Mitul, Scherer, Martin, Stabler, Antje, Strom, Tim M., Sutter, Christian, Thiele, Holger, van Asperen, Christi J., van der Kolk, Lizet, van der Luijt, Rob B., Volk, Alexander E., Wagner, Michael
ORCID: 0000-0003-2589-6440, Waisfisz, Quinten, Wang, Qin, Wang-Gohrke, Shan, Weber, Bernhard H. F., Devilee, Peter
ORCID: 0000-0002-8023-2009, Tavtigian, Sean, Bader, Gary D., Meindl, Alfons, Goldgar, David E., Andrulis, Irene L., Schmutzler, Rita K., Easton, Douglas F., Schmidt, Marjanka K., Hahnen, Eric and Simard, Jacques
ORCID: 0000-0001-6906-3390
(2022).
Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.
Cancers, 14 (14).
BASEL:
MDPI.
ISSN 2072-6694
Fernandez-Cuesta, Lynnette ORCID: 0000-0002-0724-6703, Plenker, Dennis, Osada, Hirotaka, Sun, Ruping, Menon, Roopika, Leenders, Frauke, Ortiz-Cuaran, Sandra, Peifer, Martin
ORCID: 0000-0002-5243-5503, Bos, Marc, Dassler, Juliane, Malchers, Florian, Schottle, Jakob, Vogel, Wenzel, Dahmen, Ilona, Koker, Mirjam, Ullrich, Roland T., Wright, Gavin M., Russell, Prudence A., Wainer, Zoe, Solomon, Benjamin, Brambilla, Elisabeth, Nagy-Mignotte, Helene, Moro-Sibilot, Denis, Brambilla, Christian G., Lantuejoul, Sylvie, Altmuller, Janine, Becker, Christian, Nurnberg, Peter, Heuckmann, Johannes M., Stoelben, Erich, Petersen, Iver, Clement, Joachim H.
ORCID: 0000-0002-6601-2456, Saenger, Joerg, Muscarella, Lucia A., la Torre, Annamaria
ORCID: 0000-0003-4199-1077, Fazio, Vito M., Lahortiga, Idoya, Perera, Timothy, Ogata, Souichi, Parade, Marc, Brehmer, Dirk, Vingron, Martin, Heukamp, Lukas C., Buettner, Reinhard, Zander, Thomas, Wolf, Jurgen, Perner, Sven, Ansen, Sascha, Haas, Stefan A., Yatabe, Yasushi
ORCID: 0000-0003-1788-559X and Thomas, Roman K.
(2014).
CD74-NRG1 Fusions in Lung Adenocarcinoma.
Cancer Discov., 4 (4).
S. 415 - 423.
PHILADELPHIA:
AMER ASSOC CANCER RESEARCH.
ISSN 2159-8290
Fessler, Evelyn, Drost, Jarno ORCID: 0000-0002-2941-6179, van Hooff, Sander R., Linnekamp, Janneke F., Wang, Xin
ORCID: 0000-0002-5122-2418, Jansen, Marnix, Melo, Felipe De Sousa E., Prasetyanti, Pramudita R., Ijspeert, Joep E. G., Franitza, Marek, Nurnberg, Peter, van Noesel, Carel J. M., Dekker, Evelien, Vermeulen, Louis
ORCID: 0000-0002-6066-789X, Clevers, Hans and Medema, Jan Paul
(2016).
TGF beta signaling directs serrated adenomas to the mesenchymal colorectal cancer subtype.
EMBO Mol. Med., 8 (7).
S. 745 - 761.
HOBOKEN:
WILEY.
ISSN 1757-4684
George, Julie, Walter, Vonn ORCID: 0000-0001-6114-6714, Peifer, Martin, Alexandrov, Ludmil B., Seidel, Danila
ORCID: 0000-0003-4388-3117, Leenders, Frauke, Maas, Lukas, Mueller, Christian, Dahmen, Ilona, Delhomme, Tiffany M.
ORCID: 0000-0003-0265-4246, Ardin, Maude, Leblay, Noemie, Byrnes, Graham
ORCID: 0000-0003-3893-7539, Sun, Ruping, De Reynies, Aurelien, McLeer-Florin, Anne, Bosco, Graziella, Malchers, Florian, Menon, Roopika, Altmuller, Janine, Becker, Christian, Nurnberg, Peter, Achter, Viktor, Lang, Ulrich, Schneider, Peter M.
ORCID: 0000-0003-0744-2349, Bogus, Magdalena, Soloway, Matthew G., Wilkerson, Matthew D., Cun, Yupeng
ORCID: 0000-0002-4241-8099, McKay, James D., Moro-Sibilot, Denis, Brambilla, Christian G., Lantuejoul, Sylvie, Lemaitre, Nicolas, Soltermann, Alex, Weder, Walter, Tischler, Verena
ORCID: 0000-0002-6673-8329, Brustugun, Odd Terje, Lund-Iversen, Marius, Helland, Aslaug
ORCID: 0000-0002-5520-0275, Solberg, Steinar, Ansen, Sascha, Wright, Gavin, Solomon, Benjamin, Roz, Luca
ORCID: 0000-0001-5817-7149, Pastorino, Ugo, Petersen, Iver, Clement, Joachim H.
ORCID: 0000-0002-6601-2456, Saenger, Jorg, Wolf, Jurgen, Vingron, Martin, Zander, Thomas, Perner, Sven, Travis, William D., Haas, Stefan A., Olivier, Magali, Foll, Matthieu
ORCID: 0000-0001-9006-8436, Buettner, Reinhard, Hayes, David Neil, Brambilla, Elisabeth, Fernandez-Cuesta, Lynnette
ORCID: 0000-0002-0724-6703 and Thomas, Roman K.
(2018).
Integrative genomic profiling of large-cell neuroendocrine carcinomas reveals distinct subtypes of high-grade neuroendocrine lung tumors.
Nat. Commun., 9.
LONDON:
NATURE PUBLISHING GROUP.
ISSN 2041-1723
Ghosh, Shereen G., Becker, Kerstin, Huang, He, Salazar, Tracy D., Chai, Guoliang, Salpietro, Vincenzo, Al-Gazali, Lihadh, Waisfisz, Quinten ORCID: 0000-0002-7384-9182, Wang, Haicui, Vaux, Keith K., Stanley, Valentina, Manole, Andreea, Akpulat, Ugur, Weiss, Marjan M., Efthymiou, Stephanie
ORCID: 0000-0003-4900-9877, Hanna, Michael G., Minetti, Carlo, Striano, Pasquale, Pisciotta, Livia, De Grandis, Elisa, Altmuller, Janine, Weixler, Lisa
ORCID: 0000-0003-4453-017X, Nurnberg, Peter, Thiele, Holger, Yis, Uluc, Okur, Tuncay Derya, Polat, Ayse Ipek, Amiri, Nafise, Doosti, Mohammad, Karimani, Ehsan Ghayoor, Toosi, Mehran B., Haddad, Gabriel, Karakaya, Mert, Wirth, Brunhilde, van Hagen, Johanna M., Wolf, Nicole I., Maroofian, Reza, Houlden, Henry, Cirak, Sebahattin and Gleeson, Joseph G.
(2021).
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome (vol 103, pg 431, 2018).
Am. J. Hum. Genet., 108 (12).
S. 2385 - 2386.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605
Haliloglu, Goknur, Becker, Kerstin, Temucin, Cagri, Talim, Beril, Kucuksahin, Nalan, Pergande, Matthias, Motameny, Susanne, Nurnberg, Peter, Aydingoz, Ustun ORCID: 0000-0002-4325-847X, Topaloglu, Haluk and Cirak, Sebahattin
(2017).
Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects.
J. Hum. Genet., 62 (4).
S. 497 - 502.
NEW YORK:
NATURE PUBLISHING GROUP.
ISSN 1435-232X
Heinrich, Maria, Sieg, Miriam, Kruppa, Jochen, Nurnberg, Peter, Schreier, Peter H., Heilmann-Heimbach, Stefanie, Hoffmann, Per, Nothen, Markus M., Janke, Jurgen, Pischon, Tobias ORCID: 0000-0003-1568-767X, Slooter, Arjen J. C., Winterer, Georg and Spies, Claudia D.
(2021).
Association between genetic variants of the cholinergic system and postoperative delirium and cognitive dysfunction in elderly patients.
BMC Med. Genomics, 14 (1).
LONDON:
BMC.
ISSN 1755-8794
Kaygusuz, Emrah, Khayyat, Arwa Ishaq A., Abdullah, Uzma, Budde, Birgit Susanne, Asif, Maria, Ahmed, Ilyas, Makhdoom, Ehtisham Ul Haq, Sur-Erdem, Ilknur, Baig, Jamshaid Mahmood, Khan, Muhammad Mohsin Ali, Toliat, Mohammad Reza, Becker, Christian, Anwar, Haseeb, Iqbal, Maria, Fischer, Sarah, Jameel, Muhammad, Sher, Muhammad, Tariq, Muhammad, Malik, Naveed Altaf, Noegel, Angelika A., Hassan, Muhammad Jawad, Thiele, Holger, Tinschert, Sigrid, Eichinger, Ludwig, Honing, Stefan, Baig, Shahid Mahmood, Nurnberg, Peter and Hussain, Muhammad Sajid (2022). A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome (vol 100, pg 486, 2021). Clin. Genet., 101 (2). S. 272 - 273. HOBOKEN: WILEY. ISSN 1399-0004
Khuller, Katharina, Yigit, Goekhan, Grijalva, Carolina Martinez, Altmueller, Janine, Thiele, Holger, Nurnberg, Peter, Elcioglu, Nursel H., Yeter, Burcu, Hehr, Ute, Stein, Anja, Della Marina, Adela, Koeninger, Angela, Depienne, Christel, Kaiser, Frank J., Wollnik, Bernd ORCID: 0000-0003-2589-0364 and Kuechler, Alma
(2021).
MFSD2A-associated primary microcephaly-Expanding the clinical and mutational spectrum of this ultra-rare disease.
Eur. J. Med. Genet., 64 (10).
AMSTERDAM:
ELSEVIER.
ISSN 1878-0849
Koko, Mahmoud ORCID: 0000-0001-9512-0184, Yahia, Ashraf, Elsayed, Liena E., Hamed, Ahlam A., Mohammed, Inaam N., Elseed, Maha A., Hamad, Muddathir H. A., Babai, Arwa M., Siddig, Rayan A., Abd Allah, Amal S. I., Mohamed, Mayada, EL-Amin, Melka, Esteves, Typhaine, Altmuller, Janine, Toliat, Mohammad Reza, Thiele, Holger, Nurnberg, Peter, Salih, Mustafa A., Ahmed, Ammar E., Lerche, Holger and Stevanin, Giovanni
ORCID: 0000-0001-9368-8657
(2021).
An identical-by-descent novel splice-donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families.
Ann. Hum. Genet., 85 (5).
S. 186 - 196.
HOBOKEN:
WILEY.
ISSN 1469-1809
Lemke, Johannes R., Geider, Kirsten, Helbig, Katherine L., Heyne, Henrike O., Schutz, Hannah, Hentschel, Julia, Courage, Carolina, Depienne, Christel, Nava, Caroline ORCID: 0000-0003-1272-0518, Heron, Delphine, Moller, Rikke S., Hjalgrim, Helle, Lal, Dennis, Neubauer, Bernd A., Nurnberg, Peter, Thiele, Holger, Kurlemann, Gerhard, Arnold, Georgianne L., Bhambhani, Vikas, Bartholdi, Deborah, Pedurupillay, Christeen Ramane J., Misceo, Doriana, Frengen, Eirik
ORCID: 0000-0002-8387-2247, Stromme, Petter, Dlugos, Dennis J., Doherty, Emily S., Bijlsma, Emilia K., Ruivenkamp, Claudia A., Hoffer, Mariette J. V., Goldstein, Amy, Rajan, Deepa S., Narayanan, Vinodh
ORCID: 0000-0002-0658-3847, Ramsey, Keri, Belnap, Newell, Schrauwen, Isabelle
ORCID: 0000-0001-7310-6082, Richholt, Ryan, Koeleman, Bobby P. C., Sa, Joaquim, Mendonca, Carla
ORCID: 0000-0001-9926-0598, de Kovel, Carolien G. F., Weckhuysen, Sarah
ORCID: 0000-0003-2878-1147, Hardies, Katia, De Jonghe, Peter, De Meirleir, Linda, Milh, Mathieu, Badens, Catherine
ORCID: 0000-0001-9024-310X, Lebrun, Marine, Busa, Tiffany, Francannet, Christine, Piton, Amelie, Riesch, Erik, Biskup, Saskia, Vogt, Heinrich, Dorn, Thomas, Helbig, Ingo
ORCID: 0000-0001-8486-0558, Michaud, Jacques L., Laube, Bodo and Syrbe, Steffen
(2016).
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.
Neurology, 86 (23).
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PHILADELPHIA:
LIPPINCOTT WILLIAMS & WILKINS.
ISSN 1526-632X
Lima Cunha, Dulce ORCID: 0000-0002-6814-8365, Oram, Amanda, Gruber, Robert, Plank, Roswitha, Lingenhel, Arno, Gupta, Manoj K., Altmuller, Janine
ORCID: 0000-0003-4372-1521, Nurnberg, Peter
ORCID: 0000-0002-7228-428X, Schmuth, Matthias
ORCID: 0000-0002-4064-1334, Zschocke, Johannes
ORCID: 0000-0002-0046-8274, Saric, Tomo, Eckl, Katja M. and Hennies, Hans C.
(2021).
hiPSC-Derived Epidermal Keratinocytes from Ichthyosis Patients Show Altered Expression of Cornification Markers.
Int. J. Mol. Sci., 22 (4).
BASEL:
MDPI.
ISSN 1422-0067
Moosa, Shahida, Chentli, Farida, Altmuller, Janine, Bogershausen, Nina, Nurnberg, Peter, Yigit, Gokhan, Li, Yun and Wollnik, Bernd ORCID: 0000-0003-2589-0364
(2022).
Genomic basis of syndromic short stature in an Algerian patient cohort.
Am. J. Med. Genet. A, 188 (2).
S. 606 - 613.
HOBOKEN:
WILEY.
ISSN 1552-4833
Ozieblo, Dominika ORCID: 0000-0002-3454-8002, Sarosiak, Anna
ORCID: 0000-0003-0806-9195, Leja, Marcin L., Budde, Birgit S., Tacikowska, Grazyna
ORCID: 0000-0002-5570-7092, Di Donato, Nataliya
ORCID: 0000-0001-9439-4677, Bolz, Hanno J., Nurnberg, Peter, Skarzynski, Henryk and Oldak, Monika
ORCID: 0000-0002-4216-9141
(2019).
First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene.
J. Transl. Med., 17 (1).
LONDON:
BMC.
ISSN 1479-5876
Portelli, Michael A., Siedlinski, Mateusz ORCID: 0000-0001-7682-6122, Stewart, Ceri E., Postma, Dirkje S., Nieuwenhuis, Maartje A., Vonk, Judith M., Nurnberg, Peter, Altmuller, Janine, Moffatt, Miriam F., Wardlaw, Andrew J., Parker, Stuart G., Connolly, Martin J., Koppelman, Gerard H. and Sayers, Ian
ORCID: 0000-0001-5601-5410
(2014).
Genome-wide protein QTL mapping identifies human plasma kallikrein as a post-translational regulator of serum uPAR levels.
Faseb J., 28 (2).
S. 923 - 935.
BETHESDA:
FEDERATION AMER SOC EXP BIOL.
ISSN 1530-6860
Reynolds, John J., Bicknell, Louise S., Carroll, Paula, Higgs, Martin R., Shaheen, Ranad, Murray, Jennie E., Papadopoulos, Dimitrios K., Leitch, Andrea, Murina, Olga ORCID: 0000-0003-1650-2892, Tarnauskaite, Zygimante, Wessel, Sarah R., Zlatanou, Anastasia, Vernet, Audrey, von Kriegsheim, Alex
ORCID: 0000-0002-4952-8573, Mottram, Rachel M. A., Logan, Clare V., Bye, Hannah, Li, Yun, Brean, Alexander, Maddirevula, Sateesh, Challis, Rachel C., Skouloudaki, Kassiani, Almoisheer, Agaadir, Alsaif, Hessa S., Amar, Ariella, Prescott, Natalie J., Bober, Michael B., Duker, Angela, Faqeih, Eissa, Seidahmed, Mohammed Zain, Al Tala, Saeed, Alswaid, Abdulrahman, Ahmed, Saleem, Al-Aama, Jumana Yousuf, Altmueller, Janine, Al Balwi, Mohammed
ORCID: 0000-0003-2910-0390, Brady, Angela F., Chessa, Luciana, Cox, Helen, Fischetto, Rita, Heller, Raoul, Henderson, Bertram D., Hobson, Emma, Nurnberg, Peter, Percin, E. Ferda, Peron, Angela
ORCID: 0000-0002-1769-6548, Spaccini, Luigina, Quigley, Alan J., Thakur, Seema, Wise, Carol A., Yoon, Grace, Alnemer, Maha, Tomancak, Pavel
ORCID: 0000-0002-2222-9370, Yigit, Goekhan, Taylor, A. Malcolm R., Reijns, Martin A. M., Simpson, Michael A., Cortez, David, Alkuraya, Fowzan S., Mathew, Christopher G., Jackson, Andrew P. and Stewart, Grant S.
(2017).
Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism.
Nature Genet., 49 (4).
S. 537 - 553.
NEW YORK:
NATURE PUBLISHING GROUP.
ISSN 1546-1718
Scicluna, Brendon P., van Vught, Lonneke A., Zwinderman, Aeilko H., Wiewel, Maryse A., Davenport, Emma E., Burnham, Katie L., Nurnberg, Peter, Schultz, Marcus J., Horn, Janneke, Cremer, Olaf L., Bonten, Marc J., Hinds, Charles J., Wong, Hector R., Knight, Julian C. and van der Poll, Tom (2017). Classification of patients with sepsis according to blood genomic endotype: a prospective cohort study. Lancet Resp. Med., 5 (10). S. 816 - 827. OXFORD: ELSEVIER SCI LTD. ISSN 2213-2600
Vidal, Elena A., Moyano, Tomas C., Bustos, Bernabe, I, Perez-Palma, Eduardo ORCID: 0000-0003-0546-5141, Moraga, Carol, Riveras, Eleodoro, Montecinos, Alejandro, Azocar, Lorena, Soto, Daniela C., Vidal, Mabel, Di Genoval, Alex, Puschel, Klaus, Nurnberg, Peter, Buch, Stephan, Hampe, Jochen
ORCID: 0000-0002-2421-6127, Allende, Miguel L., Cambiazo, Veronica, Gonzalez, Mauricio, Hodar, Christian
ORCID: 0000-0001-8617-7998, Montecino, Martin, Munoz-Espinoza, Claudia, Orellana, Ariel
ORCID: 0000-0002-9243-808X, Reyes-Jara, Angelica
ORCID: 0000-0002-5354-4322, Travisanyl, Dante, Vizoso, Paula, Moraga, Mauricio, Eyheramendy, Susana, Maass, Alejandro
ORCID: 0000-0002-7038-4527, De Ferrari, Giancarlo, V, Mique, Juan Francisco and Gutierrez, Rodrigo A.
(2019).
Whole Genome Sequence, Variant Discovery and Annotation in Mapuche-Huilliche Native South Americans.
Sci Rep, 9.
LONDON:
NATURE PUBLISHING GROUP.
ISSN 2045-2322
Volk, Alexander E., Hedergott, Andrea ORCID: 0000-0002-6398-3919, Preising, Markus, Rading, Sebastian, Fricke, Julia, Herkenrath, Peter, Nurnberg, Peter, Altmueller, Janine, von Ameln, Simon, Lorenz, Birgit, Neugebauer, Antje, Karsak, Meliha and Kubisch, Christian
(2021).
Biallelic mutations in l-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinism.
Hum. Genet., 140 (8).
S. 1157 - 1169.
NEW YORK:
SPRINGER.
ISSN 1432-1203
Wiessner, Manuela, Maroofian, Reza, Ni, Meng-Yuan, Pedroni, Andrea, Muller, Juliane S., Stucka, Rolf, Beetz, Christian, Efthymiou, Stephanie ORCID: 0000-0003-4900-9877, Santorelli, Filippo M., Alfares, Ahmed A., Zhu, Changlian, Meszarosova, Anna Uhrova, Alehabib, Elham, Bakhtiari, Somayeh, Janecke, Andreas R., Otero, Maria Gabriela, Chen, Jin Yun Helen, Peterson, James T., Strom, Tim M., De Jonghe, Peter, Deconinck, Tine, De Ridder, Willem, De Winter, Jonathan, Pasquariello, Rossella, Ricca, Ivana
ORCID: 0000-0001-8939-1447, Alfadhel, Majid, van de Warrenburg, Bart P., Portier, Ruben, Bergmann, Carsten, Firouzabadi, Saghar Ghasemi, Jin, Sheng Chih
ORCID: 0000-0002-5777-7262, Bilguvar, Kaya, Hamed, Sherifa
ORCID: 0000-0002-1441-3530, Abdelhameed, Mohammed, Haridy, Nourelhoda A., Maqbool, Shazia, Rahman, Fatima, Anwar, Najwa, Carmichael, Jenny, Pagnamenta, Alistair, Wood, Nick W., Mau-Them, Frederic Tran, Haack, Tobias, Di Rocco, Maja, Ceccherini, Isabella, Iacomino, Michele
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