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SMN1 copy‐number and sequence variant analysis from next‐generation sequencing data.
Published in:
Human Mutation, 2020, v. 41, n. 12, p. 2073, doi. 10.1002/humu.24120
By:
- Lopez‐Lopez, Daniel;
- Loucera, Carlos;
- Carmona, Rosario;
- Aquino, Virginia;
- Salgado, Josefa;
- Pasalodos, Sara;
- Miranda, María;
- Alonso, Ángel;
- Dopazo, Joaquín
Publication type:
Article
Functional analysis of Sonic Hedgehog variants associated with holoprosencephaly in humans using a CRISPR/Cas9 zebrafish model.
Published in:
Human Mutation, 2020, v. 41, n. 12, p. 2155, doi. 10.1002/humu.24119
By:
- Hong, Sungkook;
- Hu, Ping;
- Jang, Jae Hee;
- Carrington, Blake;
- Sood, Raman;
- Berger, Seth I.;
- Roessler, Erich;
- Muenke, Maximilian
Publication type:
Article
Phenotypic expansion in KIF1A‐related dominant disorders: A description of novel variants and review of published cases.
Published in:
Human Mutation, 2020, v. 41, n. 12, p. 2094, doi. 10.1002/humu.24118
By:
- Montenegro‐Garreaud, Ximena;
- Hansen, Adam W.;
- Khayat, Michael M.;
- Chander, Varuna;
- Grochowski, Christopher M.;
- Jiang, Yunyun;
- Li, He;
- Mitani, Tadahiro;
- Kessler, Elena;
- Jayaseelan, Joy;
- Shen, Hua;
- Gezdirici, Alper;
- Pehlivan, Davut;
- Meng, Qingchang;
- Rosenfeld, Jill A.;
- Jhangiani, Shalini N.;
- Madan‐Khetarpal, Suneeta;
- Scott, Daryl A.;
- Abarca‐Barriga, Hugo;
- Trubnykova, Milana
Publication type:
Article
Next‐generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy.
Published in:
Human Mutation, 2020, v. 41, n. 12, p. 2167, doi. 10.1002/humu.24132
By:
- Liu, Hui;
- Giguet‐Valard, Anna‐Gaëlle;
- Simonet, Thomas;
- Szenker‐Ravi, Emmanuelle;
- Lambert, Laetitia;
- Vincent‐Delorme, Catherine;
- Scheidecker, Sophie;
- Fradin, Mélanie;
- Morice‐Picard, Fanny;
- Naudion, Sophie;
- Ciorna‐Monferrato, Viorica;
- Colin, Estelle;
- Fellmann, Florence;
- Blesson, Sophie;
- Jouk, Pierre‐Simon;
- Francannet, Christine;
- Petit, Florence;
- Moutton, Sébastien;
- Lehalle, Daphné;
- Chassaing, Nicolas
Publication type:
Article
Cover, Volume 41, Issue 12.
Published in:
Human Mutation, 2020, v. 41, n. 12, p. i, doi. 10.1002/humu.24142
By:
- Nagai‐Tanima, Momoko;
- Hong, Sungkook;
- Hu, Ping;
- Carrington, Blake;
- Sood, Raman;
- Roessler, Erich;
- Muenke, Maximilian
Publication type:
Article
Relationship between sodium channel function and clinical phenotype in SCN5A variants associated with Brugada syndrome.
Published in:
Human Mutation, 2020, v. 41, n. 12, p. 2195, doi. 10.1002/humu.24128
By:
- Pearman, Charles M.;
- Denham, Nathan C.;
- Mills, Robert W.;
- Ding, Wern Y.;
- Modi, Simon S.;
- Hall, Mark C. S.;
- Todd, Derick M.;
- Mahida, Saagar
Publication type:
Article
Novel F8 and F9 gene variants from the PedNet hemophilia registry classified according to ACMG/AMP guidelines.
Published in:
Human Mutation, 2020, v. 41, n. 12, p. 2058, doi. 10.1002/humu.24117
By:
- Andersson, Nadine G.;
- Labarque, Veerle;
- Letelier, Anna;
- Mancuso, Maria Elisa;
- Bührlen, Martina;
- Fischer, Kathelijn;
- Kartal‐Kaess, Mutlu;
- Koskenvuo, Minna;
- Mikkelsen, Torben;
- Ljung, Rolf
Publication type:
Article
Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome.
Published in:
Human Mutation, 2020, v. 41, n. 12, p. 2179, doi. 10.1002/humu.24127
By:
- Epting, Daniel;
- Senaratne, Lokuliyange D. S.;
- Ott, Elisabeth;
- Holmgren, Asbjørn;
- Sumathipala, Dulika;
- Larsen, Selma M.;
- Wallmeier, Julia;
- Bracht, Diana;
- Frikstad, Kari‐Anne M.;
- Crowley, Suzanne;
- Sikiric, Alma;
- Barøy, Tuva;
- Käsmann‐Kellner, Barbara;
- Decker, Eva;
- Decker, Christian;
- Bachmann, Nadine;
- Patzke, Sebastian;
- Phelps, Ian G.;
- Katsanis, Nicholas;
- Giles, Rachel
Publication type:
Article
Rescue of common exon‐skipping mutations in cystic fibrosis with modified U1 snRNAs.
Published in:
Human Mutation, 2020, v. 41, n. 12, p. 2143, doi. 10.1002/humu.24116
By:
- Donegà, Stefano;
- Rogalska, Malgorzata Ewa;
- Pianigiani, Giulia;
- Igreja, Susana;
- Amaral, Margarida Duarte;
- Pagani, Franco
Publication type:
Article
Erratum.
Published in:
2020
Publication type:
Correction Notice
A commentary on "A Vietnamese human genetic variation database".
Published in:
2020
By:
- F. Johnson, Adam;
- T. Ngo, Linh
Publication type:
Correction Notice
FREQMAX provides an alternative approach for determining high‐resolution allele frequency thresholds in carrier screening.
Published in:
Human Mutation, 2020, v. 41, n. 12, p. 2078, doi. 10.1002/humu.24123
By:
- Subaran, Ryan L.;
- Stewart, William C. L.
Publication type:
Article
EuroGEMS.org: Guide and links to online genetic and genomic educational resources, valuable for all levels.
Published in:
Human Mutation, 2020, v. 41, n. 12, p. 2021, doi. 10.1002/humu.24113
By:
- Tobias, Adam P.;
- Tobias, Edward S.
Publication type:
Article
Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis‐van Creveld syndrome caused by hypomorphic mutations in the EVC gene.
Published in:
Human Mutation, 2020, v. 41, n. 12, p. 2087, doi. 10.1002/humu.24112
By:
- Piceci‐Sparascio, Francesca;
- Palencia‐Campos, Adrian;
- Soto‐Bielicka, Patricia;
- D'Anzi, Angela;
- Guida, Valentina;
- Rosati, Jessica;
- Caparros‐Martin, Jose A.;
- Torrente, Isabella;
- D'Asdia, M. Cecilia;
- Versacci, Paolo;
- Briuglia, Silvana;
- Lapunzina, Pablo;
- Tartaglia, Marco;
- Marino, Bruno;
- Digilio, M. Cristina;
- Ruiz‐Perez, Victor L.;
- De Luca, Alessandro
Publication type:
Article
Quantification of DNA methylation independent of sodium bisulfite conversion using methylation‐sensitive restriction enzymes and digital PCR.
Published in:
Human Mutation, 2020, v. 41, n. 12, p. 2205, doi. 10.1002/humu.24111
By:
- Nell, Rogier J.;
- Steenderen, Debby;
- Menger, Nino V.;
- Weitering, Thomas J.;
- Versluis, Mieke;
- Velden, Pieter A.
Publication type:
Article
Comprehensive analysis and ACMG‐based classification of CHEK2 variants in hereditary cancer patients.
Published in:
Human Mutation, 2020, v. 41, n. 12, p. 2128, doi. 10.1002/humu.24110
By:
- Vargas‐Parra, Gardenia;
- Valle, Jesús;
- Rofes, Paula;
- Gausachs, Mireia;
- Stradella, Agostina;
- Moreno‐Cabrera, José M.;
- Velasco, Angela;
- Tornero, Eva;
- Menéndez, Mireia;
- Muñoz, Xavier;
- Iglesias, Silvia;
- López‐Doriga, Adriana;
- Azuara, Daniel;
- Campos, Olga;
- Cuesta, Raquel;
- Darder, Esther;
- Cid, Rafael;
- González, Sara;
- Teulé, Alex;
- Navarro, Matilde
Publication type:
Article
Breakpoint junction analysis for complex genomic rearrangements with the caldera volcano‐like pattern.
Published in:
Human Mutation, 2020, v. 41, n. 12, p. 2119, doi. 10.1002/humu.24108
By:
- Yanagishita, Tomoe;
- Imaizumi, Taichi;
- Yamamoto‐Shimojima, Keiko;
- Yano, Tamami;
- Okamoto, Nobuhiko;
- Nagata, Satoru;
- Yamamoto, Toshiyuki
Publication type:
Article
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation.
Published in:
Human Mutation, 2020, v. 41, n. 12, p. 2028, doi. 10.1002/humu.24107
By:
- McCormick, Elizabeth M.;
- Lott, Marie T.;
- Dulik, Matthew C.;
- Shen, Lishuang;
- Attimonelli, Marcella;
- Vitale, Ornella;
- Karaa, Amel;
- Bai, Renkui;
- Pineda‐Alvarez, Daniel E.;
- Singh, Larry N.;
- Stanley, Christine M.;
- Wong, Stacey;
- Bhardwaj, Anshu;
- Merkurjev, Daria;
- Mao, Rong;
- Sondheimer, Neal;
- Zhang, Shiping;
- Procaccio, Vincent;
- Wallace, Douglas C.;
- Gai, Xiaowu
Publication type:
Article
Rare hypomorphic human variation in the heptahelical domain of SMO contributes to holoprosencephaly phenotypes.
Published in:
Human Mutation, 2020, v. 41, n. 12, p. 2105, doi. 10.1002/humu.24103
By:
- Nagai‐Tanima, Momoko;
- Hong, Sungkook;
- Hu, Ping;
- Carrington, Blake;
- Sood, Raman;
- Roessler, Erich;
- Muenke, Maximilian
Publication type:
Article
Issue Information.
Published in:
Human Mutation, 2020, v. 41, n. 12, p. 2017, doi. 10.1002/humu.23816
Publication type:
Article

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