Works matching IS 20567944 AND DT 2024 AND VI 9 AND IP 1

Results: 76
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    Somatic mutation in autosomal dominant polycystic kidney disease revealed by deep sequencing human kidney cysts.

    Published in:
    NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00452-6
    By:
    • Mallawaarachchi, Amali C.;
    • Hort, Yvonne;
    • Wedd, Laura;
    • Lo, Kitty;
    • Senum, Sarah;
    • Toumari, Mojgan;
    • Chen, Wenhan;
    • Utsiwegota, Mike;
    • Mawson, Jane;
    • Leslie, Scott;
    • Laurence, Jerome;
    • Anderson, Lyndal;
    • Snelling, Paul;
    • Salomon, Robert;
    • Rangan, Gopala K.;
    • Furlong, Timothy;
    • Shine, John;
    • Cowley, Mark J.
    Publication type:
    Article
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    Analysis of exonic deletions in a large population study provides novel insights into NRXN1 pathology.

    Published in:
    NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00450-8
    By:
    • Montalbano, Simone;
    • Krebs, Morten Dybdahl;
    • Rosengren, Anders;
    • Vaez, Morteza;
    • Hellberg, Kajsa-Lotta Georgii;
    • Mortensen, Preben B.;
    • Børglum, Anders D.;
    • Geschwind, Daniel H.;
    • iPSYCH Investigators;
    • Hougaard, David M.;
    • Nordentoft, Merete;
    • Mors, Ole;
    • Grove, Jakob;
    • Als, Thomas D.;
    • Buil, Alfonso;
    • Schork, Andrew J.;
    • Gådin, Jesper;
    • Zetterberg, Richard;
    • Appadurai, Vivek;
    • Meijsen, Joeri
    Publication type:
    Article
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    Efficient reinterpretation of rare disease cases using Exomiser.

    Published in:
    NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00456-2
    By:
    • Vestito, Letizia;
    • Jacobsen, Julius O. B.;
    • Walker, Susan;
    • Cipriani, Valentina;
    • Harris, Nomi L.;
    • Haendel, Melissa A.;
    • Mungall, Christopher J.;
    • Robinson, Peter;
    • Smedley, Damian
    Publication type:
    Article
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    Long-read genome sequencing resolves complex genomic rearrangements in rare genetic syndromes.

    Published in:
    NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00454-4
    By:
    • Showpnil, Iftekhar A.;
    • E. Hernandez Gonzalez, Maria;
    • Ramadesikan, Swetha;
    • Marhabaie, Mohammad;
    • Daley, Allison;
    • Dublin-Ryan, Leeran;
    • Pastore, Matthew T.;
    • Gurusamy, Umamaheswaran;
    • Hunter, Jesse M.;
    • Stone, Brandon S.;
    • Bartholomew, Dennis W.;
    • Manickam, Kandamurugu;
    • Miller, Anthony R.;
    • Wilson, Richard K.;
    • Stottmann, Rolf W.;
    • Koboldt, Daniel C.
    Publication type:
    Article
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    Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes.

    Published in:
    NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00441-9
    By:
    • French, Courtney E.;
    • Andrews, Nancy C.;
    • Beggs, Alan H.;
    • Boone, Philip M.;
    • Brownstein, Catherine A.;
    • Chopra, Maya;
    • Chou, Janet;
    • Chung, Wendy K.;
    • D'Gama, Alissa M.;
    • Doan, Ryan N.;
    • Ebrahimi-Fakhari, Darius;
    • Goldstein, Richard D.;
    • Irons, Mira;
    • Jacobsen, Christina;
    • Kenna, Margaret;
    • Lee, Ted;
    • Madden, Jill A.;
    • Majmundar, Amar J.;
    • Mann, Nina;
    • Morton, Sarah U.
    Publication type:
    Article
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    Germline sequence variation in cancer genes in Rwandan breast and prostate cancer cases.

    Published in:
    NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00446-4
    By:
    • Manirakiza, Achille VC.;
    • Baichoo, Shakuntala;
    • Uwineza, Annette;
    • Dukundane, Damas;
    • Uwinkindi, Francois;
    • Ngendahayo, Edouard;
    • Rubagumya, Fidel;
    • Muhawenimana, Emmanuel;
    • Nsabimana, Nicaise;
    • Nzeyimana, Innocent;
    • Maniragaba, Theoneste;
    • Ntirenganya, Faustin;
    • Rurangwa, Ephrem;
    • Mugenzi, Pacifique;
    • Mutamuliza, Janviere;
    • Runanira, Daniel;
    • Niyibizi, Brandon A.;
    • Rugengamanzi, Eulade;
    • Besada, Jeffrey;
    • Nielsen, Sarah M.
    Publication type:
    Article
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    Common protein-altering variant in GFAP is associated with white matter lesions in the older Japanese population.

    Published in:
    NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00431-x
    By:
    • Furuta, Yoshihiko;
    • Akiyama, Masato;
    • Hirabayashi, Naoki;
    • Honda, Takanori;
    • Shibata, Mao;
    • Ohara, Tomoyuki;
    • Hata, Jun;
    • Terao, Chikashi;
    • Momozawa, Yukihide;
    • Tatewaki, Yasuko;
    • Taki, Yasuyuki;
    • Nakaji, Shigeyuki;
    • Maeda, Tetsuya;
    • Ono, Kenjiro;
    • Mimura, Masaru;
    • Nakashima, Kenji;
    • Iga, Jun-ichi;
    • Takebayashi, Minoru;
    • Ninomiya, Toshiharu
    Publication type:
    Article
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    Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration.

    Published in:
    NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00439-3
    By:
    • Sangermano, Riccardo;
    • Gupta, Priya;
    • Price, Cherrell;
    • Han, Jinu;
    • Navarro, Julien;
    • Condroyer, Christel;
    • Place, Emily M.;
    • Antonio, Aline;
    • Mukai, Shizuo;
    • Zanlonghi, Xavier;
    • Sahel, José-Alain;
    • DiTroia, Stephanie;
    • O'Heir, Emily;
    • Duncan, Jacque L.;
    • Pierce, Eric A.;
    • Zeitz, Christina;
    • Audo, Isabelle;
    • Huckfeldt, Rachel M.;
    • Bujakowska, Kinga M.
    Publication type:
    Article
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    Genomic variations associated with risk and protection against vincristine-induced peripheral neuropathy in pediatric cancer patients.

    Published in:
    NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00443-7
    By:
    • Mufti, Kheireddin;
    • Cordova, Miguel;
    • Scott, Erika N.;
    • Trueman, Jessica N.;
    • Lovnicki, Jessica M.;
    • Loucks, Catrina M.;
    • Rassekh, Shahrad R.;
    • Ross, Colin J. D.;
    • Carleton, Bruce C.;
    • Groeneweg, Gabriella S. S.;
    • Higginson, Michelle;
    • Chang, Wan-Chun;
    • Li, Kathy;
    • Miao, Fudan;
    • Yau, Derek;
    • Pecheux, Lucie;
    • Gyawali, Bina;
    • Perreault, Amanda;
    • Abbasi, Fatema;
    • Guilcher, Gregory
    Publication type:
    Article
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    Severe traumatic injury is associated with profound changes in DNA methylation.

    Published in:
    NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00438-4
    By:
    • Eskesen, Trine O.;
    • Almstrup, Kristian;
    • Elgaard, Laurits;
    • Arleth, Tobias;
    • Lassen, Mathilde L.;
    • Creutzburg, Andreas;
    • Jensen, Alice Herrlin;
    • Breindahl, Niklas;
    • Dinesen, Felicia;
    • Vang, Malene;
    • Sørensen, Erik;
    • Paulsen, Anders Wallin;
    • Nielsen, Tatiana;
    • Rasmussen, Lars S.;
    • Sillesen, Martin;
    • Steinmetz, Jacob
    Publication type:
    Article
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    SLC16A8 is a causal contributor to age-related macular degeneration risk.

    Published in:
    NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00442-8
    By:
    • Nouri, Navid;
    • Gussler, Bailey Hannon;
    • Stockwell, Amy;
    • Truong, Tom;
    • Kang, Gyeong Jin;
    • Browder, Kristen C.;
    • Malato, Yann;
    • Sene, Abdoulaye;
    • Van Everen, Sherri;
    • Wykoff, Charles C.;
    • Brown, David;
    • Fu, Arthur;
    • Palmer, James D.;
    • Lima de Carvalho, Jose Ronaldo;
    • Ullah, Ehsan;
    • Al Rawi, Ranya;
    • Chew, Emily Y.;
    • Zein, Wadih M.;
    • Guan, Bin;
    • McCarthy, Mark I.
    Publication type:
    Article
    24

    Clinical genome sequencing in patients with suspected rare genetic disease in Peru.

    Published in:
    NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00434-8
    By:
    • Bazalar-Montoya, Jeny;
    • Cornejo-Olivas, Mario;
    • Duenas-Roque, Milagros M.;
    • Purizaca-Rosillo, Nelson;
    • Rodriguez, Richard S.;
    • Milla-Neyra, Karina;
    • De La Torre-Hernandez, Carlos A.;
    • Sarapura-Castro, Elison;
    • Galarreta Aima, Carolina I.;
    • Manassero-Morales, Gioconda;
    • Chávez-Pasco, Giulliana;
    • Celis-García, Luis;
    • La Serna-Infantes, Jorge E.;
    • Arseneault, Max;
    • Ajay, Subramanian S.;
    • Avecilla, James;
    • Bennett, Maren;
    • Bluske, Krista;
    • Brown, Carolyn M.;
    • Buchanan, Amanda
    Publication type:
    Article
    25

    Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.

    Published in:
    NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00436-6
    By:
    • Demidov, German;
    • Yaldiz, Burcu;
    • Garcia-Pelaez, José;
    • de Boer, Elke;
    • Schuermans, Nika;
    • Van de Vondel, Liedewei;
    • Paramonov, Ida;
    • Johansson, Lennart F.;
    • Musacchia, Francesco;
    • Benetti, Elisa;
    • Bullich, Gemma;
    • Sablauskas, Karolis;
    • Beltran, Sergi;
    • Gilissen, Christian;
    • Hoischen, Alexander;
    • Ossowski, Stephan;
    • de Voer, Richarda;
    • Lohmann, Katja;
    • Oliveira, Carla;
    • Topf, Ana
    Publication type:
    Article
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    Biallelic GGGCC repeat expansion leading to NAXE-related mitochondrial encephalopathy.

    Published in:
    NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00429-5
    By:
    • Ozaki, Kokoro;
    • Yatsuka, Yukiko;
    • Oyazato, Yoshinobu;
    • Nishiyama, Atsushi;
    • Nitta, Kazuhiro R.;
    • Kishita, Yoshihito;
    • Fushimi, Takuya;
    • Shimura, Masaru;
    • Noma, Shohei;
    • Sugiyama, Yohei;
    • Tagami, Michihira;
    • Fukunaga, Moe;
    • Kinoshita, Hiroko;
    • Hirata, Tomoko;
    • Suda, Wataru;
    • Murakawa, Yasuhiro;
    • Carninci, Piero;
    • Ohtake, Akira;
    • Murayama, Kei;
    • Okazaki, Yasushi
    Publication type:
    Article
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    Biallelic GGGCC repeat expansion leading to NAXE-related mitochondrial encephalopathy.

    Published in:
    NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00429-5
    By:
    • Ozaki, Kokoro;
    • Yatsuka, Yukiko;
    • Oyazato, Yoshinobu;
    • Nishiyama, Atsushi;
    • Nitta, Kazuhiro R.;
    • Kishita, Yoshihito;
    • Fushimi, Takuya;
    • Shimura, Masaru;
    • Noma, Shohei;
    • Sugiyama, Yohei;
    • Tagami, Michihira;
    • Fukunaga, Moe;
    • Kinoshita, Hiroko;
    • Hirata, Tomoko;
    • Suda, Wataru;
    • Murakawa, Yasuhiro;
    • Carninci, Piero;
    • Ohtake, Akira;
    • Murayama, Kei;
    • Okazaki, Yasushi
    Publication type:
    Article
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    Prenatal diagnosis for neurofibromatosis type 1 and the pitfalls of germline mosaics.

    Published in:
    NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00425-9
    By:
    • Pacot, Laurence;
    • Vidaud, Dominique;
    • Ye, Manuela;
    • Chansavang, Albain;
    • Coustier, Audrey;
    • Maillard, Theodora;
    • Barbance, Cécile;
    • Laurendeau, Ingrid;
    • Hébrard, Bérénice;
    • Lunati-Rozie, Ariane;
    • Funalot, Benoît;
    • Wolkenstein, Pierre;
    • Vidaud, Michel;
    • Goldenberg, Alice;
    • Morice-Picard, Fanny;
    • Hadjadj, Djihad;
    • Parfait, Béatrice;
    • Pasmant, Eric
    Publication type:
    Article
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    Molecular subtypes explain lupus epigenomic heterogeneity unveiling new regulatory genetic risk variants.

    Published in:
    NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00420-0
    By:
    • Castellini-Pérez, Olivia;
    • Povedano, Elena;
    • Barturen, Guillermo;
    • Martínez-Bueno, Manuel;
    • Iakovliev, Andrii;
    • Kerick, Martin;
    • López-Domínguez, Raúl;
    • Marañón, Concepción;
    • Martín, Javier;
    • Ballestar, Esteban;
    • Beretta, Lorenzo;
    • Vigone, Barbara;
    • Pers, Jacques‐Olivier;
    • Saraux, Alain;
    • Devauchelle‐Pensec, Valérie;
    • Cornec, Divi;
    • Jousse‐Joulin, Sandrine;
    • Lauwerys, Bernard;
    • Ducreux, Julie;
    • Maudoux, Anne‐Lise
    Publication type:
    Article
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    Structure and transcription of integrated HPV DNA in vulvar carcinomas.

    Published in:
    NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00418-8
    By:
    • Van Arsdale, Anne;
    • Turker, Lauren;
    • Chang, Yoke-Chen;
    • Gould, Joshua;
    • Harmon, Bryan;
    • Maggi, Elaine C.;
    • Meshcheryakova, Olga;
    • Brown, Maxwell P.;
    • Luong, Dana;
    • Van Doorslaer, Koenraad;
    • Einstein, Mark H.;
    • Kuo, Dennis Y. S.;
    • Zheng, Deyou;
    • Haas, Brian J.;
    • Lenz, Jack;
    • Montagna, Cristina
    Publication type:
    Article
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    Analysis of cell free DNA to predict outcome to bevacizumab therapy in colorectal cancer patients.

    Published in:
    NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00415-x
    By:
    • Venken, Tom;
    • Miller, Ian S.;
    • Arijs, Ingrid;
    • Thomas, Valentina;
    • Barat, Ana;
    • Betge, Johannes;
    • Zhan, Tianzuo;
    • Gaiser, Timo;
    • Ebert, Matthias P.;
    • O'Farrell, Alice C.;
    • Prehn, Jochen;
    • Klinger, Rut;
    • O'Connor, Darran P.;
    • Moulton, Brian;
    • Murphy, Verena;
    • Serna, Garazi;
    • Nuciforo, Paolo G.;
    • McDermott, Ray;
    • Bird, Brian;
    • Leonard, Gregory
    Publication type:
    Article
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    Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions.

    Published in:
    NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00408-w
    By:
    • AlMail, Ali;
    • Jamjoom, Ahmed;
    • Pan, Amy;
    • Feng, Min Yi;
    • Chau, Vann;
    • D'Gama, Alissa M.;
    • Howell, Katherine;
    • Liang, Nicole S. Y.;
    • McTague, Amy;
    • Poduri, Annapurna;
    • Wiltrout, Kimberly;
    • Bassett, Anne S.;
    • Christodoulou, John;
    • Dupuis, Lucie;
    • Gill, Peter;
    • Levy, Tess;
    • Siper, Paige;
    • Stark, Zornitza;
    • Vorstman, Jacob A. S.;
    • Diskin, Catherine
    Publication type:
    Article
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