Works matching IS 20567944 AND DT 2025 AND VI 10 AND IP 1

Results: 37
    1
    2
    3
    4
    5

    Variants in CFAP410 cause a range of retinal and skeletal phenotypes.

    Published in:
    NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00489-1
    By:
    • Schmidt, Ryan E.;
    • Pohodich, Amy E.;
    • Birch, David;
    • Jones, Kaylie;
    • Lam, Byron L.;
    • Jung, Emily H.;
    • Jain, Nieraj;
    • Georgiou, Michalis;
    • Mahroo, Omar A.;
    • Webster, Andrew R.;
    • Michaelides, Michel;
    • Bakall, Benjamin;
    • Iannaccone, Alessandro;
    • Vincent, Ajoy;
    • Parameswarappa, Deepika C.;
    • Heon, Elise;
    • Scholl, Hendrik P. N.;
    • Janeschitz-Kriegl, Lucas;
    • Traboulsi, Elias I.;
    • Zein, Wadih
    Publication type:
    Article
    6

    A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort.

    Published in:
    NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00488-2
    By:
    • Ullah, Mukhtar;
    • Rehman, Atta Ur;
    • Quinodoz, Mathieu;
    • Rashid, Abdur;
    • Cancellieri, Francesca;
    • Munir, Asad;
    • Kaminska, Karolina;
    • Iqbal, Afia;
    • Javed, Samra;
    • Dawood, Muhammad;
    • Baig, Hafiz Muhammad Azhar;
    • Saleha, Shamim;
    • Naz, Shagufta;
    • Kausar, Humera;
    • Waryah, Ali Muhammad;
    • Superti-Furga, Andrea;
    • Ansar, Muhammad;
    • Rivolta, Carlo
    Publication type:
    Article
    7

    Long-read genome and RNA sequencing resolve a pathogenic intronic germline LINE-1 insertion in APC.

    Published in:
    NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00485-5
    By:
    • Baumann, Alexandra A.;
    • Knol, Lisanne I.;
    • Arlt, Marie;
    • Hutschenreiter, Tim;
    • Richter, Anja;
    • Widmann, Thomas J.;
    • Franke, Marcus;
    • Hackmann, Karl;
    • Winkler, Sylke;
    • Richter, Daniela;
    • Spier, Isabel;
    • Aretz, Stefan;
    • Aust, Daniela;
    • Porrmann, Joseph;
    • William, Doreen;
    • Schröck, Evelin;
    • Glimm, Hanno;
    • Jahn, Arne
    Publication type:
    Article
    8
    9

    Pathogenic SMAD6 variants in patients with idiopathic and complex congenital heart disease associated pulmonary arterial hypertension.

    Published in:
    NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00484-6
    By:
    • Karl, Sofia;
    • Grünig, Ekkehard;
    • Shaukat, Memoona;
    • Held, Matthias;
    • Apitz, Christian;
    • von Scheidt, Fabian;
    • Geiger, Ralf;
    • Halank, Michael;
    • Olsson, Karen M.;
    • Hoeper, Marius M.;
    • Kamp, Jan C.;
    • Kovacs, Gabor;
    • Olschewski, Horst;
    • Seyfarth, Hans-Jürgen;
    • Milger, Katrin;
    • Ewert, Ralf;
    • Klose, Hans;
    • Egenlauf, Benjamin;
    • Xanthouli, Panagiota;
    • Hinderhofer, Katrin
    Publication type:
    Article
    10

    Author Correction: Returning raw genomic data to research participants in a pediatric cancer precision medicine trial.

    Published in:
    2025
    By:
    • Barlow-Stewart, Kristine;
    • Courtney, Eliza;
    • Cowley, Mark;
    • Ebzery, Camron;
    • Fuentes Bolanos, Noemi;
    • Gifford, Andrew J.;
    • Harden, Hazel;
    • Josephi-Taylor, Sarah;
    • Kotecha, Rishi S.;
    • Mateos, Marion K.;
    • Manzur, Mitali;
    • Mayoh, Chelsea;
    • Milnes, Di;
    • Nielsen, Jane;
    • O'Connor, Matthew;
    • Padhye, Bhavna;
    • Pitman, Catherine;
    • Pitman, Elizabeth;
    • Pinese, Mark;
    • Speechly, Catherine
    Publication type:
    Correction Notice
    11

    The Utah NeoSeq Project: a collaborative multidisciplinary program to facilitate genomic diagnostics in the neonatal intensive care unit.

    Published in:
    NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00483-7
    By:
    • Malone Jenkins, Sabrina;
    • Palmquist, Rachel N.;
    • Moore, Barry;
    • Boyden, Steven E.;
    • Nicholas, Thomas J.;
    • Bayrak-Toydemir, Pinar;
    • Mao, Rong;
    • Farrell, J. Andrew R.;
    • Holt, Carson H.;
    • Rynearson, Shawn G.;
    • Solorzano, Chelsea M.;
    • Ward, Alistair;
    • Best, D. Hunter;
    • Al-Sweel, Najla;
    • Bentley, Dawn L.;
    • Brunelli, Luca;
    • Chow, Clement Y.;
    • Close, Devin W.;
    • Cormier, Michael J.;
    • Deshotel, Malia J.
    Publication type:
    Article
    12
    13
    14
    15
    16
    17
    18
    19

    Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort.

    Published in:
    NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00473-9
    By:
    • Vincke, Lieselot;
    • Van Schil, Kristof;
    • Ahmadieh, Hamid;
    • Moghaddasi, Afrooz;
    • Sabbaghi, Hamideh;
    • Daftarian, Narsis;
    • Motevasseli, Tahmineh;
    • Javanparast Sheykhani, Leila;
    • Dehghani, Mohammadreza;
    • Vahidi Mehrjardi, Mohammad Yahya;
    • De Zaeytijd, Julie;
    • De Bruyne, Marieke;
    • Mahieu, Quinten;
    • Al-Hajj, Ebrahim;
    • Del Pozo-Valero, Marta;
    • Rosseel, Toon;
    • Van Heetvelde, Mattias;
    • Maroofian, Reza;
    • Suri, Fatemeh;
    • Bauwens, Miriam
    Publication type:
    Article
    20

    Understanding rare variant contributions to autism: lessons from dystrophin-deficient model.

    Published in:
    NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00469-5
    By:
    • Costa, Claudia Ismania Samogy;
    • Madanelo, Luciana;
    • Wang, Jaqueline Yu Ting;
    • da Silva Campos, Gabriele;
    • De Sanctis Girardi, Ana Cristina;
    • Scliar, Marília;
    • Monfardini, Frederico;
    • de Cássia Mingroni Pavanello, Rita;
    • Cória, Vivian Romanholi;
    • Vibranovski, Maria Dulcetti;
    • Krepischi, Ana Cristina;
    • Lourenço, Naila Cristina Vilaça;
    • Zatz, Mayana;
    • Yamamoto, Guilherme Lopes;
    • Zachi, Elaine Cristina;
    • Passos-Bueno, Maria Rita
    Publication type:
    Article
    21
    22

    International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease.

    Published in:
    NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00474-8
    By:
    • Howell, Katherine B.;
    • White, Susan M.;
    • McTague, Amy;
    • D'Gama, Alissa M.;
    • Costain, Gregory;
    • Poduri, Annapurna;
    • Scheffer, Ingrid E.;
    • Chau, Vann;
    • Smith, Lindsay D.;
    • Stephenson, Sarah E. M.;
    • Wojcik, Monica;
    • Davidson, Andrew;
    • Sebire, Neil;
    • Sliz, Piotr;
    • Beggs, Alan H.;
    • Chitty, Lyn S.;
    • Cohn, Ronald D.;
    • Marshall, Christian R.;
    • Andrews, Nancy C.;
    • North, Kathryn N.
    Publication type:
    Article
    23
    24
    25
    26

    Returning raw genomic data to research participants in a pediatric cancer precision medicine trial.

    Published in:
    NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00470-y
    By:
    • Barlow-Stewart, Kristine;
    • Courtney, Eliza;
    • Cowley, Mark;
    • Ebzery, Camron;
    • Fuentes Bolanos, Noemi;
    • Gifford, Andrew J.;
    • Harden, Hazel;
    • Josephi-Taylor, Sarah;
    • Kotecha, Rishi S.;
    • Mateos, Marion K.;
    • Manzur, Mitali;
    • Mayoh, Chelsea;
    • Milnes, Dianne;
    • Nielsen, Jane;
    • O'Connor, Matthew;
    • Padhye, Bhavna;
    • Pitman, Catherine;
    • Pitman, Elizabeth;
    • Pinese, Mark;
    • Speechly, Catherine
    Publication type:
    Article
    27
    28
    29

    Copy number variant analysis improves diagnostic yield in a diverse pediatric exome sequencing cohort.

    Published in:
    NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00478-4
    By:
    • Hahn, Elan;
    • Dharmadhikari, Avinash V.;
    • Markowitz, Alexander L.;
    • Estrine, Dolores;
    • Quindipan, Catherine;
    • Maggo, Simran D. S.;
    • Sharma, Ankit;
    • Lee, Brian;
    • Maglinte, Dennis T.;
    • Shams, Soheil;
    • Deardorff, Matthew A.;
    • Biegel, Jaclyn A.;
    • Gai, Xiaowu;
    • Sun, Miao;
    • Schmidt, Ryan J.;
    • Raca, Gordana;
    • Ji, Jianling
    Publication type:
    Article
    30
    31

    Polygenic height prediction for the Han Chinese in Taiwan.

    Published in:
    NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00468-6
    By:
    • Chang, Chih-Hao;
    • Chou, Che-Yu;
    • Raben, Timothy G.;
    • Chen, Shih-Ann;
    • Jong, Yuh-Jyh;
    • Wu, Jeng-Yih;
    • Yang, Shun-Fa;
    • Chen, Hsiang-Cheng;
    • Chen, Yen-Lin;
    • Chen, Ming;
    • Ma, Gwo-Chin;
    • Huang, Chih-Yang;
    • Wang, Tso-Fu;
    • Lee, Sing-Lian;
    • Hung, Chen-Fang;
    • Pang, See-Tong;
    • Widen, Erik;
    • Chang, Yao-Ming;
    • Yeh, Erh-Chan;
    • Wei, Chun-Yu
    Publication type:
    Article
    32
    33
    34
    35

    Germline structural variant as the cause of Lynch Syndrome in a family from Ecuador.

    Published in:
    NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00462-y
    By:
    • Llargués-Sistac, Gemma;
    • Bonjoch, Laia;
    • Muñoz, Jenifer;
    • Domínguez-Rovira, Xavier;
    • Ocaña, Teresa;
    • Alvarez-Mora, Maria Isabel;
    • Badenas, Celia;
    • Esteve-Codina, Anna;
    • Reyes-Silva, Carlos;
    • Jaramillo-Koupermann, Gabriela;
    • Rodrigo, Maria Teresa;
    • López-Prades, Sandra;
    • Cuatrecasas, Miriam;
    • Castells, Antoni;
    • Balaguer, Francesc;
    • Moreira, Leticia;
    • Fernandez, Guerau;
    • Castellví-Bel, Sergi
    Publication type:
    Article
    36
    37