Works matching IS 10597794 AND DT 2021 AND VI 42 AND IP 4

Results: 19

Cover, Volume 42, Issue 4.
Published in:
Human Mutation, 2021, v. 42, n. 4, p. i, doi. 10.1002/humu.24202
By:
- Wang, Huijun;
- Xiao, Feifan;
- Dong, Xinran;
- Lu, Yulan;
- Cheng, Guoqiang;
- Wang, Laishuan;
- Lu, Wei;
- Yang, Lin;
- Chen, Liping;
- Kang, Wenqing;
- Li, Long;
- Pan, Xinnian;
- Wei, Qiufen;
- Zhuang, Deyi;
- Chen, Dongmei;
- Yin, Zhaoqing;
- Yang, Ling;
- Ni, Qi;
- Liu, Renchao;
- Li, Gang
Publication type:
Article
MutSpliceDB: A database of splice sites variants with RNA‐seq based evidence on effects on splicing.
Published in:
Human Mutation, 2021, v. 42, n. 4, p. 342, doi. 10.1002/humu.24185
By:
- Palmisano, Alida;
- Vural, Suleyman;
- Zhao, Yingdong;
- Sonkin, Dmitriy
Publication type:
Article
The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2).
Published in:
Human Mutation, 2021, v. 42, n. 4, p. 473, doi. 10.1002/humu.24182
By:
- Franken, Gijs A. C.;
- Müller, Dominik;
- Mignot, Cyril;
- Keren, Boris;
- Lévy, Jonathan;
- Tabet, Anne‐Claude;
- Germanaud, David;
- Tejada, María‐Isabel;
- Kroes, Hester Y.;
- Nievelstein, Rutger A. J.;
- Brimble, Elise;
- Ruzhnikov, Maria;
- Claverie‐Martin, Felix;
- Szczepańska, Maria;
- Ćuk, Martin;
- Latta, Femke;
- Konrad, Martin;
- Martínez‐Cruz, Luis A.;
- Bindels, René J. M.;
- Hoenderop, Joost G. J.
Publication type:
Article
Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease.
Published in:
Human Mutation, 2021, v. 42, n. 4, p. 460, doi. 10.1002/humu.24181
By:
- Keller, Natalie;
- Paketci, Cem;
- Altmueller, Janine;
- Fuhrmann, Nico;
- Wunderlich, Gilbert;
- Schrank, Bertold;
- Unver, Olcay;
- Yilmaz, Sanem;
- Boostani, Reza;
- Karimiani, Ehsan Ghayoor;
- Motameny, Susanne;
- Thiele, Holger;
- Nürnberg, Peter;
- Maroofian, Reza;
- Yis, Uluc;
- Wirth, Brunhilde;
- Karakaya, Mert
Publication type:
Article
The reversion variant (p.Arg90Leu) at the evolutionarily adaptive p.Arg90 site in CELA3B predisposes to chronic pancreatitis.
Published in:
Human Mutation, 2021, v. 42, n. 4, p. 385, doi. 10.1002/humu.24178
By:
- Masson, Emmanuelle;
- Rebours, Vinciane;
- Buscail, Louis;
- Frete, Frédérique;
- Pagenault, Mael;
- Lachaux, Alain;
- Chevaux, Jean‐Baptiste;
- Génin, Emmanuelle;
- Cooper, David N.;
- Férec, Claude;
- Chen, Jian‐Min
Publication type:
Article
Cancer SIGVAR: A semiautomated interpretation tool for germline variants of hereditary cancer‐related genes.
Published in:
Human Mutation, 2021, v. 42, n. 4, p. 359, doi. 10.1002/humu.24177
By:
- Li, Hong;
- Liu, Shuixia;
- Wang, Shuangying;
- Zeng, Quanlei;
- Chen, Yulan;
- Fang, Ting;
- Zhang, Yi;
- Zhou, Ying;
- Zhang, Yu;
- Wang, Kaiyue;
- Yan, Zhangwei;
- Qiang, Cuicui;
- Xu, Meng;
- Chai, Xianghua;
- Yuan, Yuying;
- Huang, Ming;
- Zhang, Hongyun;
- Xiong, Yun
Publication type:
Article
TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.
Published in:
Human Mutation, 2021, v. 42, n. 4, p. 445, doi. 10.1002/humu.24176
By:
- Woerden, Geeske M.;
- Bos, Melanie;
- Konink, Charlotte;
- Distel, Ben;
- Avagliano Trezza, Rossella;
- Shur, Natasha E.;
- Barañano, Kristin;
- Mahida, Sonal;
- Chassevent, Anna;
- Schreiber, Allison;
- Erwin, Angelika L.;
- Gripp, Karen W.;
- Rehman, Fatima;
- Brulleman, Saskia;
- McCormack, Róisín;
- Geus, Gwynna;
- Kalsner, Louisa;
- Sorlin, Arthur;
- Bruel, Ange‐Line;
- Koolen, David A.
Publication type:
Article
Corrigendum.
Published in:
Human Mutation, 2021, v. 42, n. 4, p. 487, doi. 10.1002/humu.24175
Publication type:
Article
CHM mutation spectrum and disease: An update at the time of human therapeutic trials.
Published in:
Human Mutation, 2021, v. 42, n. 4, p. 323, doi. 10.1002/humu.24174
By:
- Zeitz, Christina;
- Nassisi, Marco;
- Laurent‐Coriat, Caroline;
- Andrieu, Camille;
- Boyard, Fiona;
- Condroyer, Christel;
- Démontant, Vanessa;
- Antonio, Aline;
- Lancelot, Marie‐Elise;
- Frederiksen, Helen;
- Kloeckener‐Gruissem, Barbara;
- El‐Shamieh, Said;
- Zanlonghi, Xavier;
- Meunier, Isabelle;
- Roux, Anne‐Françoise;
- Mohand‐Saïd, Saddek;
- Sahel, José‐Alain;
- Audo, Isabelle
Publication type:
Article
Severe congenital lactic acidosis and hypertrophic cardiomyopathy caused by an intronic variant in NDUFB7.
Published in:
Human Mutation, 2021, v. 42, n. 4, p. 378, doi. 10.1002/humu.24173
By:
- Correia, Sandrina P.;
- Moedas, Marco F.;
- Naess, Karin;
- Bruhn, Helene;
- Maffezzini, Camilla;
- Calvo‐Garrido, Javier;
- Lesko, Nicole;
- Wibom, Rolf;
- Schober, Florian A.;
- Jemt, Anders;
- Stranneheim, Henrik;
- Freyer, Christoph;
- Wedell, Anna;
- Wredenberg, Anna
Publication type:
Article
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early‐onset monogenic disorders in Indians.
Published in:
Human Mutation, 2021, v. 42, n. 4, p. e15, doi. 10.1002/humu.24172
By:
- Kausthubham, Neethukrishna;
- Shukla, Anju;
- Gupta, Neerja;
- Bhavani, Gandham S.;
- Kulshrestha, Samarth;
- Das Bhowmik, Aneek;
- Moirangthem, Amita;
- Bijarnia‐Mahay, Sunita;
- Kabra, Madhulika;
- Puri, Ratna D.;
- Mandal, Kausik;
- Verma, Ishwar C.;
- Bielas, Stephanie L.;
- Phadke, Shubha R.;
- Dalal, Ashwin;
- Girisha, Katta M.
Publication type:
Article
Relationship of DUX4 and target gene expression in FSHD myocytes.
Published in:
Human Mutation, 2021, v. 42, n. 4, p. 421, doi. 10.1002/humu.24171
By:
- Chau, Jonathan;
- Kong, Xiangduo;
- Nguyen, Nam;
- Williams, Katherine;
- Ball, Miya;
- Tawil, Rabi;
- Kiyono, Tohru;
- Mortazavi, Ali;
- Yokomori, Kyoko
Publication type:
Article
Diagnostic and clinical utility of next‐generation sequencing in children born with multiple congenital anomalies in the China neonatal genomes project.
Published in:
Human Mutation, 2021, v. 42, n. 4, p. 434, doi. 10.1002/humu.24170
By:
- Wang, Huijun;
- Xiao, Feifan;
- Dong, Xinran;
- Lu, Yulan;
- Cheng, Guoqiang;
- Wang, Laishuan;
- Lu, Wei;
- Yang, Lin;
- Chen, Liping;
- Kang, Wenqing;
- Li, Long;
- Pan, Xinnian;
- Wei, Qiufen;
- Zhuang, Deyi;
- Chen, Dongmei;
- Yin, Zhaoqing;
- Yang, Ling;
- Ni, Qi;
- Liu, Renchao;
- Li, Gang
Publication type:
Article
Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients.
Published in:
Human Mutation, 2021, v. 42, n. 4, p. 373, doi. 10.1002/humu.24167
By:
- Laurent, Sacha;
- Gehrig, Corinne;
- Nouspikel, Thierry;
- Amr, Sami S.;
- Oza, Andrea;
- Murphy, Elissa;
- Vannier, Anne;
- Béna, Frédérique Sloan;
- Carminho‐Rodrigues, Maria Teresa;
- Blouin, Jean‐Louis;
- Cao Van, Hélène;
- Abramowicz, Marc;
- Paoloni‐Giacobino, Ariane;
- Guipponi, Michel
Publication type:
Article
The genomic landscape of pediatric rheumatology disorders in the Middle East.
Published in:
Human Mutation, 2021, v. 42, n. 4, p. e1, doi. 10.1002/humu.24165
By:
- Fathalla, Basil M.;
- Alsarhan, Ali;
- Afzal, Samina;
- El Naofal, Maha;
- Abou Tayoun, Ahmad
Publication type:
Article
Functional characterization of ABCC8 variants of unknown significance based on bioinformatics predictions, splicing assays, and protein analyses: Benefits for the accurate diagnosis of congenital hyperinsulinism.
Published in:
Human Mutation, 2021, v. 42, n. 4, p. 408, doi. 10.1002/humu.24164
By:
- Saint‐Martin, Cécile;
- Cauchois‐Le Mière, Marine;
- Rex, Emily;
- Soukarieh, Omar;
- Arnoux, Jean‐Baptiste;
- Buratti, Julien;
- Bouvet, Delphine;
- Frébourg, Thierry;
- Gaildrat, Pascaline;
- Shyng, Show‐Ling;
- Bellanné‐Chantelot, Christine;
- Martins, Alexandra
Publication type:
Article
GeneBreaker: Variant simulation to improve the diagnosis of Mendelian rare genetic diseases.
Published in:
Human Mutation, 2021, v. 42, n. 4, p. 346, doi. 10.1002/humu.24163
By:
- Richmond, Phillip A.;
- Av‐Shalom, Tamar V.;
- Fornes, Oriol;
- Modi, Bhavi;
- Elliott, Alison M.;
- Wasserman, Wyeth W.
Publication type:
Article
Mutations in KIF7 implicated in idiopathic scoliosis in humans and axial curvatures in zebrafish.
Published in:
Human Mutation, 2021, v. 42, n. 4, p. 392, doi. 10.1002/humu.24162
By:
- Terhune, Elizabeth A.;
- Cuevas, Melissa T.;
- Monley, Anna M.;
- Wethey, Cambria I.;
- Chen, Xiaomi;
- Cattell, Maria V.;
- Bayrak, Melisa N.;
- Bland, Morgan R.;
- Sutphin, Brittan;
- Trahan, George Devon;
- Taylor, Matthew R. G.;
- Niswander, Lee A.;
- Jones, Kenneth L.;
- Baschal, Erin E.;
- Antunes, Lilian;
- Dobbs, Matthew;
- Gurnett, Christina;
- Appel, Bruce;
- Gray, Ryan;
- Hadley Miller, Nancy
Publication type:
Article
Issue Information.
Published in:
Human Mutation, 2021, v. 42, n. 4, p. 321, doi. 10.1002/humu.24041
Publication type:
Article