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

Results: 60
    1
    2

    A founder BRCA1 exonic duplication involving breakpoint in T2T reference genome-specific region results in constitutional fusion transcript.

    Published in:
    NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00517-0
    By:
    • Schwartz, Mathias;
    • Filser, Mathilde;
    • Merchadou, Kevin;
    • Lemaitre, Elisa;
    • Abidallah, Khadija;
    • Tenreiro, Henrique;
    • Dubois D'enghien, Catherine;
    • Rapinat, Audrey;
    • Pierre-Noel, Elise;
    • Suybeng, Voreak;
    • Espenel, Marion;
    • Baulande, Sylvain;
    • Adams, Séverine;
    • Remenieras, Audrey;
    • Renaud, Crystal;
    • Aucouturier, Camille;
    • Delnatte, Capucine;
    • Garrec, Céline;
    • Renault, Victor;
    • Golmard, Lisa
    Publication type:
    Article
    3

    TERT c.3150 G > C (p.K1050N): a founder Ashkenazi Jewish variant associated with telomere biology disorders.

    Published in:
    NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00501-8
    By:
    • de Andrade, Kelvin César;
    • Pinto, Emilia M.;
    • Zhao, Tianna;
    • Zeigler, Logan P.;
    • Kim, Jung;
    • Giri, Neelam;
    • Haley, Jeremy S.;
    • McReynolds, Lisa J.;
    • Florez-Vargas, Oscar;
    • Phillips, Aaron H.;
    • Kriwacki, Richard W.;
    • Akinniyi, Sherifa A.;
    • Cohen, Scott B.;
    • Emerson, Matthew R.;
    • Smelser, Diane T.;
    • Urban, Gretchen M.;
    • Fridman, Cintia;
    • Zambetti, Gerard P.;
    • Bryan, Tracy M.;
    • Carey, David J.
    Publication type:
    Article
    4

    Cracking rare disorders: a new minimally invasive RNA-seq protocol.

    Published in:
    NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00502-7
    By:
    • De Cock, Laurenz;
    • D'haenens, Erika;
    • Vantomme, Lies;
    • Backers, Lynn;
    • Beyens, Aude;
    • Claes, Kathleen BM;
    • De Clercq, Griet;
    • de Putter, Robin;
    • Kumps, Candy;
    • Schuermans, Nika;
    • Sourbron, Jo;
    • Syryn, Hannes;
    • Tavernier, Simon;
    • Vanbelleghem, Eva;
    • Vanakker, Olivier;
    • Vandekerckhove, Bart;
    • Van Damme, Tim;
    • Callewaert, Bert;
    • Dheedene, Annelies;
    • Vergult, Sarah
    Publication type:
    Article
    5
    6
    7
    8
    9
    10
    11
    12
    13
    14

    Geno4ME Study: implementation of whole genome sequencing for population screening in a large healthcare system.

    Published in:
    NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00508-1
    By:
    • Lucas Beckett, Isabelle A.;
    • Emery, Kate R.;
    • Wagner, Josiah T.;
    • Jade, Kathleen;
    • Cosgrove, Benjamin A.;
    • Welle, John;
    • Rinaldi, JB;
    • Dickey, Lindsay;
    • Jones, Kyle;
    • Wagner, Nick;
    • Shull, Eric M.;
    • Clemens, Jon;
    • Trachana, Kalliopi;
    • Anderson, Lance;
    • Kudla, Allison;
    • Smith, Brett;
    • Verespej, Hakon;
    • Yuan, Li Chi;
    • Denne, Elizabeth;
    • Ramos, Erica
    Publication type:
    Article
    15

    Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing.

    Published in:
    NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00505-4
    By:
    • Hou, Huayun;
    • Yuki, Kyoko E.;
    • Costain, Gregory;
    • Szuto, Anna;
    • Barnes, Sierra;
    • Ramani, Arun K.;
    • Celik, Alper;
    • Braga, Michael;
    • Gloven-Brown, Meagan;
    • Stavropoulos, Dimitri J.;
    • Bowdin, Sarah;
    • Cohn, Ronald D.;
    • Mendoza-Londono, Roberto;
    • Scherer, Stephen W.;
    • Brudno, Michael;
    • Marshall, Christian R.;
    • Stephen Meyn, M.;
    • Shlien, Adam;
    • Dowling, James J.;
    • Wilson, Michael D.
    Publication type:
    Article
    16
    17
    18

    MPSE identifies newborns for whole genome sequencing within 48 h of NICU admission.

    Published in:
    NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00506-3
    By:
    • Peterson, Bennet;
    • Juarez, Edwin F.;
    • Moore, Barry;
    • Hernandez, Edgar Javier;
    • Frise, Erwin;
    • Li, Jianrong;
    • Lussier, Yves;
    • Tristani-Firouzi, Martin;
    • Reese, Martin G.;
    • Malone Jenkins, Sabrina;
    • Kingsmore, Stephen F.;
    • Bainbridge, Matthew N.;
    • Yandell, Mark
    Publication type:
    Article
    19
    20

    Novel germline and somatic variants in familial and sporadic meningioma genes.

    Published in:
    NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00494-4
    By:
    • Bencheikh, Bouchra Ouled Amar;
    • Dilliott, Allison A.;
    • Gauthier, Julie;
    • Laurent, Sandra Beatrice;
    • Ambalavanan, Amirthagowri;
    • Spiegelman, Dan;
    • Dionne-Laporte, Alexandre;
    • Lyahyai, Jaber;
    • Martuza, Robert L.;
    • Sieb, Jörn P.;
    • Farhan, Sali M. K.;
    • Dion, Patrick A.;
    • Pulst, Stefan-M.;
    • Rouleau, Guy A.
    Publication type:
    Article
    21
    22

    Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencing.

    Published in:
    NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00497-1
    By:
    • Keefe, Alexandra C.;
    • Jensen, Dana M.;
    • Pham, Meranda M.;
    • Au, Natalie Y T;
    • Beckman, Erika;
    • Penon-Portmann, Monica;
    • Shelkowitz, Emily;
    • Bend, Renee;
    • Morrow, Michelle M.;
    • Kruszka, Paul;
    • Vats, Divya;
    • Russell, Bianca E.;
    • Chan, Erica;
    • Wong, Derek;
    • Rabani, Ahna;
    • O'Grady, Lauren;
    • Sahai, Inderneel;
    • Widmeyer, Kimberly;
    • Sperry, Ethan D.;
    • Hallinan, Barbara E.
    Publication type:
    Article
    23
    24
    25
    26
    27
    28

    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
    29

    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
    30

    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
    31
    32

    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
    33

    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
    34

    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
    35
    36
    37
    38

    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
    39

    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
    40

    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
    41
    42
    43
    44
    45
    46
    47
    48
    49

    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
    50