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

Results: 22

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
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
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
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
Elevated levels of neutrophils with a pro-inflammatory profile in Turner syndrome across karyotypes.
Published in:
NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00467-7
By:
- Just, Jesper;
- Ridder, Lukas Ochsner Reynaud;
- Johannsen, Emma Bruun;
- Jensen, Jens Magnus Bernth;
- Petersen, Mikkel Steen;
- Christensen, Helene Viborg;
- Kjærgaard, Kenneth;
- Redder, Jacob;
- Chang, Simon;
- Stochholm, Kirstine;
- Skakkebæk, Anne;
- Gravholt, Claus Højbjerg
Publication type:
Article
Identification of deep intronic variants in junctional epidermolysis bullosa using genome sequencing and splicing assays.
Published in:
NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00466-8
By:
- Chen, Fuying;
- Wei, Ruoqu;
- Wang, Yumeng;
- Cao, Qiaoyu;
- Wang, Jianbo;
- Wang, Chenfei;
- Yao, Dingjin;
- Yao, Zhirong;
- Ni, Cheng;
- Li, Ming
Publication type:
Article
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
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.
Published in:
NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-024-00460-6
By:
- Cappato, Serena;
- Divizia, Maria Teresa;
- Menta, Ludovica;
- Rosti, Giulia;
- Puliti, Aldamaria;
- Martinheira Da Silva, Joana Soraia;
- Santamaria, Giuseppe;
- Di Duca, Marco;
- Ronchetto, Patrizia;
- Faravelli, Francesca;
- Zara, Federico;
- Bocciardi, Renata
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
Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders.
Published in:
NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-024-00455-3
By:
- Han, Heonjong;
- Seo, Go Hun;
- Hyun, Seong-In;
- Kwon, Kisang;
- Ryu, Seung Woo;
- Khang, Rin;
- Lee, Eugene;
- Kim, JiHye;
- Song, Yongjun;
- Jeong, Won Chan;
- Han, Joohyun;
- Kim, Dong-wook;
- Yang, Soyeon;
- Lee, Sohyun;
- Jang, Sohyun;
- Lee, Jungsul;
- Lee, Hane
Publication type:
Article
Whole genome sequencing completes the molecular genetic testing workflow of patients with Lynch syndrome.
Published in:
NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00461-z
By:
- Horti-Oravecz, Klaudia;
- Bozsik, Anikó;
- Pócza, Tímea;
- Vereczkey, Ildikó;
- Strausz, Tamás;
- Tóth, Erika;
- Sedlackova, Tatiana;
- Rusnakova, Diana;
- Szemes, Tomas;
- Likó, István;
- Oláh, Edit;
- Butz, Henriett;
- Patócs, Attila;
- Papp, János;
- Grolmusz, Vince Kornél
Publication type:
Article
Adaptive evolution of SARS-CoV-2 during a persistent infection for 521 days in an immunocompromised patient.
Published in:
NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00463-x
By:
- Schmidt, Hanno;
- Schick, Lea;
- Podlech, Jürgen;
- Renzaho, Angélique;
- Lieb, Bettina;
- Diederich, Stefan;
- Hankeln, Thomas;
- Plachter, Bodo;
- Kriege, Oliver
Publication type:
Article
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
Pre-T cell receptor-α immunodeficiency detected exclusively using whole genome sequencing.
Published in:
NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-024-00453-5
By:
- Merico, Daniele;
- Sharfe, Nigel;
- Dadi, Harjit;
- Thiruvahindrapuram, Bhooma;
- de Rijke, Jill;
- Dahi, Zakia;
- Zarrei, Mehdi;
- Al Ghamdi, Abdulrahman;
- Al Shaqaq, Azhar;
- Vong, Linda;
- Scherer, Stephen W.;
- Roifman, Chaim M.
Publication type:
Article
Assessment of candidate high-grade serous ovarian carcinoma predisposition genes through integrated germline and tumour sequencing.
Published in:
NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-024-00447-3
By:
- Subramanian, Deepak N.;
- Zethoven, Maia;
- Pishas, Kathleen I.;
- Marinović, Evanny R.;
- McInerny, Simone;
- Rowley, Simone M.;
- Allan, Prue E.;
- Devereux, Lisa;
- Cheasley, Dane;
- James, Paul A.;
- Campbell, Ian G.
Publication type:
Article