Works matching IS 10597794 AND DT 2021 AND VI 42 AND IP 6

Results: 13

Bi‐allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease.

Published in:

Human Mutation, 2021, v. 42, n. 6, p. 745, doi. 10.1002/humu.24210

By:

Cappuccio, Gerarda;
Ceccatelli Berti, Camilla;
Baruffini, Enrico;
Sullivan, Jennifer;
Shashi, Vandana;
Jewett, Tamison;
Stamper, Tara;
Maitz, Silvia;
Canonico, Francesco;
Revah‐Politi, Anya;
Kupchik, Gabriel S.;
Anyane‐Yeboa, Kwame;
Aggarwal, Vimla;
Benneche, Andreas;
Bratland, Eirik;
Berland, Siren;
D'Arco, Felice;
Alves, Cesar A.;
Vanderver, Adeline;
Longo, Daniela

Publication type:

Article

Clinical, neuroimaging, and molecular spectrum of TECPR2‐associated hereditary sensory and autonomic neuropathy with intellectual disability.

Published in:

Human Mutation, 2021, v. 42, n. 6, p. 762, doi. 10.1002/humu.24206

By:

Neuser, Sonja;
Brechmann, Barbara;
Heimer, Gali;
Brösse, Ines;
Schubert, Susanna;
O'Grady, Lauren;
Zech, Michael;
Srivastava, Siddharth;
Sweetser, David A.;
Dincer, Yasemin;
Mall, Volker;
Winkelmann, Juliane;
Behrends, Christian;
Darras, Basil T.;
Graham, Robert J.;
Jayakar, Parul;
Byrne, Barry;
Bar‐Aluma, Bat El;
Haberman, Yael;
Szeinberg, Amir

Publication type:

Article

CNGB1‐related rod‐cone dystrophy: A mutation review and update.

Published in:

Human Mutation, 2021, v. 42, n. 6, p. 641, doi. 10.1002/humu.24205

By:

Nassisi, Marco;
Smirnov, Vasily M.;
Solis Hernandez, Cyntia;
Mohand‐Saïd, Saddek;
Condroyer, Christel;
Antonio, Aline;
Kühlewein, Laura;
Kempf, Melanie;
Kohl, Susanne;
Wissinger, Bernd;
Nasser, Fadi;
Ragi, Sara D.;
Wang, Nan‐Kai;
Sparrow, Janet R.;
Greenstein, Vivienne C.;
Michalakis, Stylianos;
Mahroo, Omar A.;
Ba‐Abbad, Rola;
Michaelides, Michel;
Webster, Andrew R.

Publication type:

Article

von Willebrand factor propeptide missense variants affect anterograde transport to Golgi resulting in ER retention.

Published in:

Human Mutation, 2021, v. 42, n. 6, p. 731, doi. 10.1002/humu.24204

By:

Yadegari, Hamideh;
Biswas, Arijit;
Ahmed, Shariq;
Naz, Arshi;
Oldenburg, Johannes

Publication type:

Article

Prediction of disease‐associated functional variants in noncoding regions through a comprehensive analysis by integrating datasets and features.

Published in:

Human Mutation, 2021, v. 42, n. 6, p. 667, doi. 10.1002/humu.24203

By:

Lu, Yu;
Wu, Yiming;
Liu, Yuan;
Li, Yizhou;
Jing, Runyu;
Li, Menglong

Publication type:

Article

Haploinsufficiency of POU4F1 causes an ataxia syndrome with hypotonia and intention tremor.

Published in:

Human Mutation, 2021, v. 42, n. 6, p. 685, doi. 10.1002/humu.24201

By:

Webb, Bryn D.;
Evans, Anthony;
Naidich, Thomas P.;
Bird, Lynne;
Parikh, Sumit;
Fernandez Garcia, Meilin;
Henderson, Lindsay B.;
Millan, Francisca;
Si, Yue;
Brennand, Kristen J.;
Hung, Peter;
Rucker, Janet C.;
Wheeler, Patricia G.;
Schadt, Eric E.

Publication type:

Article

Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients.

Published in:

Human Mutation, 2021, v. 42, n. 6, p. 787, doi. 10.1002/humu.24200

By:

Blasco‐Pérez, Laura;
Paramonov, Ida;
Leno, Jordi;
Bernal, Sara;
Alias, Laura;
Fuentes‐Prior, Pablo;
Cuscó, Ivon;
Tizzano, Eduardo F.

Publication type:

Article

More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome.

Published in:

Human Mutation, 2021, v. 42, n. 6, p. 711, doi. 10.1002/humu.24199

By:

Dhooge, Tibbe;
Van Damme, Tim;
Syx, Delfien;
Mosquera, Laura M.;
Nampoothiri, Sheela;
Radhakrishnan, Anil;
Simsek‐Kiper, Pelin O.;
Utine, Gülen E.;
Bonduelle, Maryse;
Migeotte, Isabelle;
Essawi, Osama;
Ceylaner, Serdar;
Al Kindy, Adila;
Tinkle, Brad;
Symoens, Sofie;
Malfait, Fransiska

Publication type:

Article

Lung‐specific distant enhancer cis regulates expression of FOXF1 and lncRNA FENDRR.

Published in:

Human Mutation, 2021, v. 42, n. 6, p. 694, doi. 10.1002/humu.24198

By:

Szafranski, Przemyslaw;
Gambin, Tomasz;
Karolak, Justyna A.;
Popek, Edwina;
Stankiewicz, Paweł

Publication type:

Article

KATK: Fast genotyping of rare variants directly from unmapped sequencing reads.

Published in:

Human Mutation, 2021, v. 42, n. 6, p. 777, doi. 10.1002/humu.24197

By:

Kaplinski, Lauris;
Möls, Märt;
Puurand, Tarmo;
Pajuste, Fanny‐Dhelia;
Remm, Maido

Publication type:

Article

Implementation of multigene panel NGS diagnosis in the national primary ciliary dyskinesia cohort of Cyprus: An island with a high disease prevalence.

Published in:

Human Mutation, 2021, v. 42, n. 6, p. e62, doi. 10.1002/humu.24196

By:

Yiallouros, Panayiotis K.;
Kouis, Panayiotis;
Kyriacou, Kyriacos;
Evriviadou, Aigli;
Anagnostopoulou, Pinelopi;
Matthaiou, Andreas;
Tsiolakis, Ioannis;
Pirpa, Panayiota;
Michailidou, Kyriaki;
Potamiti, Louiza;
Loizidou, Maria A.;
Hadjisavvas, Andreas

Publication type:

Article

Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation.

Published in:

Human Mutation, 2021, v. 42, n. 6, p. 699, doi. 10.1002/humu.24195

By:

Torraco, Alessandra;
Nasca, Alessia;
Verrigni, Daniela;
Pennisi, Alessandra;
Zaki, Maha S.;
Olivieri, Giorgia;
Assouline, Zahra;
Martinelli, Diego;
Maroofian, Reza;
Rizza, Teresa;
Di Nottia, Michela;
Invernizzi, Federica;
Lamantea, Eleonora;
Longo, Daniela;
Houlden, Henry;
Prokisch, Holger;
Rötig, Agnès;
Dionisi‐Vici, Carlo;
Bertini, Enrico;
Ghezzi, Daniele

Publication type:

Article

Issue Information.

Published in:: Human Mutation, 2021, v. 42, n. 6, p. 639, doi. 10.1002/humu.24043
Publication type:: Article