Works matching IS 10597794 AND DT 2021 AND VI 42 AND IP 3

Results: 9

SNPs associated with colorectal cancer at 15q13.3 affect risk enhancers that modulate GREM1 gene expression.
Published in:
Human Mutation, 2021, v. 42, n. 3, p. 237, doi. 10.1002/humu.24166
By:
- Fortini, Barbara K.;
- Tring, Stephanie;
- Devall, Matthew A.;
- Ali, Mourad Wagdy;
- Plummer, Sarah J.;
- Casey, Graham
Publication type:
Article
Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance.
Published in:
Human Mutation, 2021, v. 42, n. 3, p. 310, doi. 10.1002/humu.24160
By:
- Stenton, Sarah L.;
- Piekutowska‐Abramczuk, Dorota;
- Kulterer, Lea;
- Kopajtich, Robert;
- Claeys, Kristl G.;
- Ciara, Elżbieta;
- Eisen, Johannes;
- Płoski, Rafał;
- Pronicka, Ewa;
- Malczyk, Katarzyna;
- Wagner, Matias;
- Wortmann, Saskia B.;
- Prokisch, Holger
Publication type:
Article
Phenotypic differences of mutation‐negative cases in Gitelman syndrome clinically diagnosed in adulthood.
Published in:
Human Mutation, 2021, v. 42, n. 3, p. 300, doi. 10.1002/humu.24159
By:
- Mori, Takayasu;
- Chiga, Motoko;
- Fujimaru, Takuya;
- Kawamoto, Ryosuke;
- Mandai, Shintaro;
- Nanamatsu, Azuma;
- Nomura, Naohiro;
- Ando, Fumiaki;
- Susa, Koichiro;
- Sohara, Eisei;
- Rai, Tatemitsu;
- Uchida, Shinichi
Publication type:
Article
Whole‐exome sequencing of non‐BRCA1/BRCA2 mutation carrier cases at high‐risk for hereditary breast/ovarian cancer.
Published in:
Human Mutation, 2021, v. 42, n. 3, p. 290, doi. 10.1002/humu.24158
By:
- Felicio, Paula S.;
- Grasel, Rebeca S.;
- Campacci, Natalia;
- Paula, Andre E.;
- Galvão, Henrique C. R.;
- Torrezan, Giovana T.;
- Sabato, Cristina S.;
- Fernandes, Gabriela C.;
- Souza, Cristiano P.;
- Michelli, Rodrigo D.;
- Andrade, Carlos E.;
- Barros, Bruna Durães De Figueiredo;
- Matsushita, Marcus M.;
- Revil, Timothée;
- Ragoussis, Jiannis;
- Couch, Fergus J.;
- Hart, Steven N.;
- Reis, Rui M.;
- Melendez, Matias E.;
- Tonin, Patricia N.
Publication type:
Article
Functional and clinical implications of genetic structure in 1686 Italian exomes.
Published in:
Human Mutation, 2021, v. 42, n. 3, p. 272, doi. 10.1002/humu.24156
By:
- Birolo, Giovanni;
- Aneli, Serena;
- Di Gaetano, Cornelia;
- Cugliari, Giovanni;
- Russo, Alessia;
- Allione, Alessandra;
- Casalone, Elisabetta;
- Giorgio, Elisa;
- Paraboschi, Elvezia M.;
- Ardissino, Diego;
- Duga, Stefano;
- Asselta, Rosanna;
- Matullo, Giuseppe
Publication type:
Article
Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants.
Published in:
Human Mutation, 2021, v. 42, n. 3, p. 223, doi. 10.1002/humu.24152
By:
- Fortuno, Cristina;
- Lee, Kristy;
- Olivier, Magali;
- Pesaran, Tina;
- Mai, Phuong L.;
- Andrade, Kelvin C.;
- Attardi, Laura D.;
- Crowley, Stephanie;
- Evans, D. Gareth;
- Feng, Bing‐Jian;
- Foreman, Ann K. M.;
- Frone, Megan N.;
- Huether, Robert;
- James, Paul A.;
- McGoldrick, Kelly;
- Mester, Jessica;
- Seifert, Bryce A.;
- Slavin, Thomas P.;
- Witkowski, Leora;
- Zhang, Liying
Publication type:
Article
New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV.
Published in:
Human Mutation, 2021, v. 42, n. 3, p. 261, doi. 10.1002/humu.24150
By:
- Peter, Virginie G.;
- Quinodoz, Mathieu;
- Sadio, Silvia;
- Held, Sebastian;
- Rodrigues, Márcia;
- Soares, Marta;
- Sousa, Ana Berta;
- Coutinho Santos, Luisa;
- Damme, Markus;
- Rivolta, Carlo
Publication type:
Article
Identification of SRSF10 as a regulator of SMN2 ISS‐N1.
Published in:
Human Mutation, 2021, v. 42, n. 3, p. 246, doi. 10.1002/humu.24149
By:
- Frederiksen, Sabrina B.;
- Holm, Lise L.;
- Larsen, Martin R.;
- Doktor, Thomas K.;
- Andersen, Henriette S.;
- Hastings, Michelle L.;
- Hua, Yimin;
- Krainer, Adrian R.;
- Andresen, Brage S.
Publication type:
Article
Issue Information.
Published in:
Human Mutation, 2021, v. 42, n. 3, p. 221, doi. 10.1002/humu.24040
Publication type:
Article