Works matching IS 03406717 AND DT 2025 AND VI 144 AND IP 2/3

Results: 16

Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge.

Published in:

Human Genetics, 2025, v. 144, n. 2/3, p. 309, doi. 10.1007/s00439-025-02733-1

By:

Aspromonte, Maria Cristina;
Del Conte, Alessio;
Polli, Roberta;
Baldo, Demetrio;
Benedicenti, Francesco;
Bettella, Elisa;
Bigoni, Stefania;
Boni, Stefania;
Ciaccio, Claudia;
D'Arrigo, Stefano;
Donati, Ilaria;
Granocchio, Elisa;
Mammi, Isabella;
Milani, Donatella;
Negrin, Susanna;
Nosadini, Margherita;
Soli, Fiorenza;
Stanzial, Franco;
Turolla, Licia;
Piovesan, Damiano

Publication type:

Article

Critical assessment of missense variant effect predictors on disease-relevant variant data.

Published in:

Human Genetics, 2025, v. 144, n. 2/3, p. 281, doi. 10.1007/s00439-025-02732-2

By:

Rastogi, Ruchir;
Chung, Ryan;
Li, Sindy;
Li, Chang;
Lee, Kyoungyeul;
Woo, Junwoo;
Kim, Dong-Wook;
Keum, Changwon;
Babbi, Giulia;
Martelli, Pier Luigi;
Savojardo, Castrense;
Casadio, Rita;
Chennen, Kirsley;
Weber, Thomas;
Poch, Olivier;
Ancien, François;
Cia, Gabriel;
Pucci, Fabrizio;
Raimondi, Daniele;
Vranken, Wim

Publication type:

Article

Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A.

Published in:

Human Genetics, 2025, v. 144, n. 2/3, p. 295, doi. 10.1007/s00439-025-02731-3

By:

Jain, Shantanu;
Trinidad, Marena;
Nguyen, Thanh Binh;
Jones, Kaiya;
Neto, Santiago Diaz;
Ge, Fang;
Glagovsky, Ailin;
Jones, Cameron;
Moran, Giankaleb;
Wang, Boqi;
Rahimi, Kobra;
Çalıcı, Sümeyra Zeynep;
Cedillo, Luis R.;
Berardelli, Silvia;
Özden, Buse;
Chen, Ken;
Katsonis, Panagiotis;
Williams, Amanda;
Lichtarge, Olivier;
Rana, Sadhna

Publication type:

Article

An augmented transformer model trained on protein family specific variant data leads to improved prediction of variants of uncertain significance.

Published in:

Human Genetics, 2025, v. 144, n. 2/3, p. 143, doi. 10.1007/s00439-025-02727-z

By:

Joshi, Dinesh;
Pradhan, Swatantra;
Sajeed, Rakshanda;
Srinivasan, Rajgopal;
Rana, Sadhna

Publication type:

Article

Evaluating predictors of kinase activity of STK11 variants identified in primary human non-small cell lung cancers.

Published in:

Human Genetics, 2025, v. 144, n. 2/3, p. 127, doi. 10.1007/s00439-025-02726-0

By:

Chen, Yile;
Lee, Kyoungyeul;
Woo, Junwoo;
Kim, Dong-wook;
Keum, Changwon;
Babbi, Giulia;
Casadio, Rita;
Martelli, Pier Luigi;
Savojardo, Castrense;
Manfredi, Matteo;
Shen, Yang;
Sun, Yuanfei;
Katsonis, Panagiotis;
Lichtarge, Olivier;
Pejaver, Vikas;
Seward, David J.;
Kamandula, Akash;
Bakolitsa, Constantina;
Brenner, Steven E.;
Radivojac, Predrag

Publication type:

Article

Assessing the predicted impact of single amino acid substitutions in MAPK proteins for CAGI6 challenges.

Published in:

Human Genetics, 2025, v. 144, n. 2/3, p. 265, doi. 10.1007/s00439-024-02724-8

By:

Turina, Paola;
Petrosino, Maria;
Enriquez Sandoval, Carlos A.;
Novak, Leonore;
Pasquo, Alessandra;
Alexov, Emil;
Alladin, Muttaqi Ahmad;
Ascher, David B.;
Babbi, Giulia;
Bakolitsa, Constantina;
Casadio, Rita;
Cheng, Jianlin;
Fariselli, Piero;
Folkman, Lukas;
Kamandula, Akash;
Katsonis, Panagiotis;
Li, Minghui;
Li, Dong;
Lichtarge, Olivier;
Mahmud, Sajid

Publication type:

Article

CAGI6 ID panel challenge: assessment of phenotype and variant predictions in 415 children with neurodevelopmental disorders (NDDs).

Published in:

Human Genetics, 2025, v. 144, n. 2/3, p. 227, doi. 10.1007/s00439-024-02722-w

By:

Aspromonte, Maria Cristina;
Del Conte, Alessio;
Zhu, Shaowen;
Tan, Wuwei;
Shen, Yang;
Zhang, Yexian;
Li, Qi;
Wang, Maggie Haitian;
Babbi, Giulia;
Bovo, Samuele;
Martelli, Pier Luigi;
Casadio, Rita;
Althagafi, Azza;
Toonsi, Sumyyah;
Kulmanov, Maxat;
Hoehndorf, Robert;
Katsonis, Panagiotis;
Williams, Amanda;
Lichtarge, Olivier;
Xian, Su

Publication type:

Article

Assessing the predicted impact of single amino acid substitutions in calmodulin for CAGI6 challenges.

Published in:

Human Genetics, 2025, v. 144, n. 2/3, p. 113, doi. 10.1007/s00439-024-02720-y

By:

Turina, Paola;
Dal Cortivo, Giuditta;
Enriquez Sandoval, Carlos A.;
Alexov, Emil;
Ascher, David B.;
Babbi, Giulia;
Bakolitsa, Constantina;
Casadio, Rita;
Fariselli, Piero;
Folkman, Lukas;
Kamandula, Akash;
Katsonis, Panagiotis;
Li, Dong;
Lichtarge, Olivier;
Martelli, Pier Luigi;
Panday, Shailesh Kumar;
Pires, Douglas E. V.;
Portelli, Stephanie;
Pucci, Fabrizio;
Rodrigues, Carlos H. M.

Publication type:

Article

Structure-informed protein language models are robust predictors for variant effects.

Published in:

Human Genetics, 2025, v. 144, n. 2/3, p. 209, doi. 10.1007/s00439-024-02695-w

By:

Sun, Yuanfei;
Shen, Yang

Publication type:

Article

QAFI: a novel method for quantitative estimation of missense variant impact using protein-specific predictors and ensemble learning.

Published in:

Human Genetics, 2025, v. 144, n. 2/3, p. 191, doi. 10.1007/s00439-024-02692-z

By:

Ozkan, Selen;
Padilla, Natàlia;
de la Cruz, Xavier

Publication type:

Article

Assessing predictions on fitness effects of missense variants in HMBS in CAGI6.

Published in:

Human Genetics, 2025, v. 144, n. 2/3, p. 173, doi. 10.1007/s00439-024-02680-3

By:

Zhang, Jing;
Kinch, Lisa;
Katsonis, Panagiotis;
Lichtarge, Olivier;
Jagota, Milind;
Song, Yun S.;
Sun, Yuanfei;
Shen, Yang;
Kuru, Nurdan;
Dereli, Onur;
Adebali, Ogun;
Alladin, Muttaqi Ahmad;
Pal, Debnath;
Capriotti, Emidio;
Turina, Maria Paola;
Savojardo, Castrense;
Martelli, Pier Luigi;
Babbi, Giulia;
Casadio, Rita;
Pucci, Fabrizio

Publication type:

Article

Prioritizing genomic variants pathogenicity via DNA, RNA, and protein-level features based on extreme gradient boosting.

Published in:

Human Genetics, 2025, v. 144, n. 2/3, p. 253, doi. 10.1007/s00439-024-02667-0

By:

Ding, Maolin;
Chen, Ken;
Yang, Yuedong;
Zhao, Huiying

Publication type:

Article

An AI-based approach driven by genotypes and phenotypes to uplift the diagnostic yield of genetic diseases.

Published in:

Human Genetics, 2025, v. 144, n. 2/3, p. 159, doi. 10.1007/s00439-023-02638-x

By:

Zucca, S.;
Nicora, G.;
De Paoli, F.;
Carta, M. G.;
Bellazzi, R.;
Magni, P.;
Rizzo, E.;
Limongelli, I.

Publication type:

Article

Impact of calmodulin missense variants associated with congenital arrhythmia on the thermal stability and the degree of unfolding.

Published in:

Human Genetics, 2025, v. 144, n. 2/3, p. 337, doi. 10.1007/s00439-023-02629-y

By:

Dal Cortivo, Giuditta;
Marino, Valerio;
Zamboni, Davide;
Dell'Orco, Daniele

Publication type:

Article

Predicting the impact of rare variants on RNA splicing in CAGI6.

Published in:

Human Genetics, 2025, v. 144, n. 2/3, p. 243, doi. 10.1007/s00439-023-02624-3

By:

Lord, Jenny;
Oquendo, Carolina Jaramillo;
Wai, Htoo A.;
Douglas, Andrew G. L.;
Bunyan, David J.;
Wang, Yaqiong;
Hu, Zhiqiang;
Zeng, Zishuo;
Danis, Daniel;
Katsonis, Panagiotis;
Williams, Amanda;
Lichtarge, Olivier;
Chang, Yuchen;
Bagnall, Richard D.;
Mount, Stephen M.;
Matthiasardottir, Brynja;
Lin, Chiaofeng;
Hansen, Thomas van Overeem;
Leman, Raphael;
Martins, Alexandra

Publication type:

Article

Exploring the effects of missense mutations on protein thermodynamics through structure-based approaches: findings from the CAGI6 challenges.

Published in:

Human Genetics, 2025, v. 144, n. 2/3, p. 327, doi. 10.1007/s00439-023-02623-4

By:

Rodrigues, Carlos H. M.;
Portelli, Stephanie;
Ascher, David B.

Publication type:

Article