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

Results: 50

Saliva as a potential diagnostic medium: DNA methylation biomarkers for disorders beyond the oral cavity.

Published in:

NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00509-0

By:

Hernangomez-Laderas, Alba;
Cilleros-Portet, Ariadna;
Marí, Sergi;
González-García, Bárbara P.;
Arregi, Ane;
Jimeno-Romero, Alba;
Irizar, Amaia;
García-Santisteban, Iraia;
Lesseur, Corina;
Fernandez-Jimenez, Nora;
Bilbao, Jose Ramon

Publication type:

Article

Integrating explainable machine learning and transcriptomics data reveals cell-type specific immune signatures underlying macular degeneration.

Published in:

NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00507-2

By:

Ma, Khang;
Nakajima, Hosei;
Basak, Nipa;
Barman, Arko;
Ratnapriya, Rinki

Publication type:

Article

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

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

Exploring gene-phenotype relationships in GRIN-related neurodevelopmental disorders.

Published in:

NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00499-z

By:

Cha, Jong Ho;
Kim, Jee Min;
Yun, Hee-Jeong;
Chin, Hyungjin;
Kim, Hye Jin;
Kim, Woojoong;
Kim, Soo Yeon;
Lim, Byung Chan;
Kim, Ki Joong;
Lee, Seungbok;
Chae, Jong-Hee

Publication type:

Article

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

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

Genome-wide association study identified novel loci and gene-environment interaction for refractive error in children.

Published in:

NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00504-5

By:

Wang, Yuyao;
Zhang, Yuzhou;
Chen, Haoyu;
Zhang, Xiu Juan;
Zhang, Riping;
Ng, Tsz Kin;
Tham, Jenson A.;
Kam, Ka Wai;
Tam, Pancy O. S.;
Young, Alvin L.;
Wei, Yingying;
Zhang, Mingzhi;
Pang, Chi Pui;
Tham, Clement C.;
Yam, Jason C.;
Chen, Li Jia

Publication type:

Article

An ultra-rare missense variant in the KIF1B gene linked to autoinflammatory Menière's disease.

Published in:

NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00503-6

By:

Cruz-Granados, Pablo;
Bianco-Bortoletto, Giselle;
Aran, Ismael;
Rivero de Jesus, Victoria;
Lopez-Escamez, Jose A.

Publication type:

Article

Genomic diversity in functionally relevant genes modifies neurodevelopmental versus neoplastic risks in individuals with germline PTEN variants.

Published in:

NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00495-3

By:

Kim, Adriel Y.;
Yehia, Lamis;
Eng, Charis

Publication type:

Article

Myelodysplastic syndrome diagnosed by genetic testing for hereditary cancer: a case report.

Published in:

NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00476-6

By:

Ridd, Sarah;
Peck, Larissa;
Bankar, Aniket;
Charames, George S.;
Lerner-Ellis, Jordan;
Mahajan, Radhika;
Sabatini, Peter J. B.;
Wong, Andrew;
Malcolmson, Janet;
Kim, Raymond H.

Publication type:

Article

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

TP53 minigene analysis of 161 sequence changes provides evidence for role of spatial constraint and regulatory elements on variant-induced splicing impact.

Published in:

NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00498-0

By:

Canson, Daffodil M.;
Llinares-Burguet, Inés;
Fortuno, Cristina;
Sanoguera-Miralles, Lara;
Bueno-Martínez, Elena;
de la Hoya, Miguel;
Spurdle, Amanda B.;
Velasco-Sampedro, Eladio A.

Publication type:

Article

An outlier approach: advancing diagnosis of neurological diseases through integrating proteomics into multi-omics guided exome reanalysis.

Published in:

NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00493-5

By:

Chui, Martin Man-Chun;
Kwong, Anna Ka-Yee;
Leung, Hiu Yu Cherie;
Pang, Chingyiu;
Scheller, Ines F.;
Wong, Sheila Suet-Na;
Fung, Cheuk-Wing;
Yépez, Vicente A.;
Gagneur, Julien;
Mak, Christopher Chun-Yu;
Chung, Brian Hon-Yin

Publication type:

Article

Multi-omic integration sets the path for early prevention strategies on healthy individuals.

Published in:

NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00491-7

By:

Kioroglou, Dimitrios;
Gil-Redondo, Rubén;
Embade, Nieves;
Bizkarguenaga, Maider;
Conde, Ricardo;
Millet, Oscar;
Mato, José M.;
Marigorta, Urko M.

Publication type:

Article

The Australian LINEAGE Study: advancing and implementing international guidance on genomic data within local governance frameworks.

Published in:

NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00492-6

By:

Lysaght, Tamra;
Ankeny, Rachel;
Brown, Alex;
McWhirter, Rebekah;
Nicol, Dianne;
Otlowski, Margaret;
Richards, Bernadette;
Newson, Ainsley J.

Publication type:

Article

Long-read technologies identify a hidden LINE-1/ERV1 insertion in IQCB1 as causative variant for Senior-Løken syndrome.

Published in:

NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00490-8

By:

de Bruijn, Suzanne E.;
Ingeborgh van den Born, L.;
Derks, Ronny;
Haer-Wigman, Lonneke;
O'Gorman, Luke;
Cremers, Frans P. M.;
van Beek, Ronald;
Hoischen, Alexander;
Roosing, Susanne;
Neveling, Kornelia

Publication type:

Article

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

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

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

Review: Utility of mass spectrometry in rare disease research and diagnosis.

Published in:

NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00487-3

By:

Zhao, Teresa;
Hock, Daniella H.;
Pitt, James;
Thorburn, David R.;
Stroud, David A.;
Christodoulou, John

Publication type:

Article

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

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

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

Non-canonical splice variants in thoracic aortic dissection cases and Marfan syndrome with negative genetic testing.

Published in:

NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00472-w

By:

Murdock, David R.;
Guo, Dong-chuan;
DePaolo, John S.;
Schwarze, Ulrike;
Duan, Xue-yan;
Cecchi, Alana C.;
Marin, Isabella C.;
Tang, YingYing;
Chong, Jessica X.;
Bamshad, Michael J.;
Leppig, Kathleen A.;
Byers, Peter H.;
Damrauer, Scott M.;
Milewicz, Dianna M.

Publication type:

Article

NGS-based Aspergillus detection in plasma and lung lavage of children with invasive pulmonary aspergillosis.

Published in:

NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00482-8

By:

Wesdorp, Emmy;
Rotte, Laura;
Chen, Li-Ting;
Jager, Myrthe;
Besselink, Nicolle;
Vermeulen, Carlo;
Hagen, Ferry;
van der Bruggen, Tjomme;
Lindemans, Caroline;
Wolfs, Tom;
Bont, Louis;
de Ridder, Jeroen

Publication type:

Article

Unraveling MECP2 structural variants in previously elusive Rett syndrome cases through IGV interpretation.

Published in:

NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00481-9

By:

Poleg, Tomer;
Hadar, Noam;
Heimer, Gali;
Dolgin, Vadim;
Aminov, Ilana;
Safran, Amit;
Agam, Nadav;
Jean, Matan M.;
Freund, Ofek;
Kaur, Simran;
Christodoulou, John;
Ben-Zeev, Bruria;
Birk, Ohad S.

Publication type:

Article

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

Discordance between a deep learning model and clinical-grade variant pathogenicity classification in a rare disease cohort.

Published in:

NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00480-w

By:

Kong, Sek Won;
Lee, In-Hee;
Collen, Lauren V.;
Field, Michael;
Manrai, Arjun K.;
Snapper, Scott B.;
Mandl, Kenneth D.

Publication type:

Article

PD-1 transcriptomic landscape across cancers and implications for immune checkpoint blockade outcome.

Published in:

NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00465-9

By:

Chen, Hui-Zi;
Kim, Na Hyun;
Nishizaki, Daisuke;
Nesline, Mary K.;
Conroy, Jeffrey M.;
DePietro, Paul;
Pabla, Sarabjot;
Kato, Shumei;
Kurzrock, Razelle

Publication type:

Article

Discovery of ancestry-specific variants associated with clopidogrel response among Caribbean Hispanics.

Published in:

NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00479-3

By:

Yang, Guang;
González, Pablo;
Moneró, Mariangeli;
Carrasquillo, Kelvin;
Renta, Jessicca Y.;
Hernandez-Suarez, Dagmar F.;
Botton, Mariana R.;
Melin, Kyle;
Scott, Stuart A.;
Ruaño, Gualberto;
Roche-Lima, Abiel;
Alarcon, Cristina;
Ritchie, Marylyn D.;
Perera, Minoli A.;
Duconge, Jorge

Publication type:

Article

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

Targeted long-read sequencing enables higher diagnostic yield of ADPKD by accurate PKD1 genetic analysis.

Published in:

NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00477-5

By:

Sun, Qian;
Xu, Peiwen;
Mao, Aiping;
Huang, Sexin;
Li, Jie;
Chen, Libao;
Li, Jing;
Kan, Haopeng;
Huang, Ju;
Ji, Wenkai;
Si, Dayong;
Yan, Junhao;
Chen, Zi-Jiang;
Gao, Xuan;
Gao, Yuan

Publication type:

Article

Targeted long-read sequencing enables higher diagnostic yield of ADPKD by accurate PKD1 genetic analysis.

Published in:

NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00477-5

By:

Sun, Qian;
Xu, Peiwen;
Mao, Aiping;
Huang, Sexin;
Li, Jie;
Chen, Libao;
Li, Jing;
Kan, Haopeng;
Huang, Ju;
Ji, Wenkai;
Si, Dayong;
Yan, Junhao;
Chen, Zi-Jiang;
Gao, Xuan;
Gao, Yuan

Publication type:

Article

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

Insights from the largest diverse ancestry sex-specific disease map for genetically predicted height.

Published in:

NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00464-w

By:

Papadopoulou, A.;
Litkowski, E. M.;
Graff, M.;
Wang, Z.;
Smit, R. A. J.;
Chittoor, G.;
Dinsmore, I.;
Josyula, N. S.;
Lin, M.;
Shortt, J.;
Zhu, W.;
Vedantam, S. L.;
Yengo, L.;
Wood, A. R.;
Berndt, S. I.;
Holm, I. A.;
Mentch, F. D.;
Hakonarson, H.;
Kiryluk, K.;
Weng, C.

Publication type:

Article

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

Identification of cryptic breakpoints through single-tube long fragment read whole genome sequencing based on preimplantation genetic testing.

Published in:

NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00471-x

By:

Jiang, Lu;
Mai, Zhuoyao;
Peng, Jiguang;
Du, Tao;
Wang, Weifeng;
Chen, Xiran;
Jiang, Chen;
Luo, Yantao;
Chen, Hui;
Song, Lijie;
Ouyang, Nengyong;
Chen, Chao;
Yuan, Ping

Publication type:

Article

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

Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry.

Published in:

NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00475-7

By:

Marta, Ana;
Marques-Couto, Pedro;
Vaz-Pereira, Sara;
Costa, José;
Cabral, Diogo;
Estrela-Silva, Sérgio;
Franca, Maria;
Marques, João Heitor;
Menéres, Maria João;
Lemos, Carolina;
Melo Beirão, João;
Soares, Célia Azevedo;
Carvalho, Ana Luísa;
Marques, João Pedro

Publication type:

Article

LMX1B haploinsufficiency due to variants in the 5'UTR as a cause of Nail-Patella syndrome.

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NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-024-00460-6

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Cappato, Serena;
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Elevated levels of neutrophils with a pro-inflammatory profile in Turner syndrome across karyotypes.

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NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00467-7

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Just, Jesper;
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Identification of deep intronic variants in junctional epidermolysis bullosa using genome sequencing and splicing assays.

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NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00466-8

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Chen, Fuying;
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NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00468-6

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Chang, Chih-Hao;
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Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders.

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NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-024-00455-3

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Han, Heonjong;
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Whole genome sequencing completes the molecular genetic testing workflow of patients with Lynch syndrome.

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NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00461-z

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Horti-Oravecz, Klaudia;
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Adaptive evolution of SARS-CoV-2 during a persistent infection for 521 days in an immunocompromised patient.

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NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00463-x

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Schmidt, Hanno;
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NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00462-y

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Llargués-Sistac, Gemma;
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Pre-T cell receptor-α immunodeficiency detected exclusively using whole genome sequencing.

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NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-024-00453-5

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NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-024-00447-3

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Subramanian, Deepak N.;
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