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Cover Image, Volume 39, Issue 3.
Published in:
Human Mutation, 2018, v. 39, n. 3, p. i, doi. 10.1002/humu.23405
By:
- Abbott, Jamie A.;
- Meyer‐Schuman, Rebecca;
- Lupo, Vincenzo;
- Feely, Shawna;
- Mademan, Inès;
- Oprescu, Stephanie N.;
- Griffin, Laurie B.;
- Alberti, M. Antonia;
- Casasnovas, Carlos;
- Aharoni, Sharon;
- Basel‐Vanagaite, Lina;
- Züchner, Stephan;
- De Jonghe, Peter;
- Baets, Jonathan;
- Shy, Michael E.;
- Espinós, Carmen;
- Demeler, Borries;
- Antonellis, Anthony;
- Francklyn, Christopher
Publication type:
Article
Methods and tools for assessing the impact of genetic variations: The 2017 Annual Scientific Meeting of the Human Genome Variation Society.
Published in:
Human Mutation, 2018, v. 39, n. 3, p. 454, doi. 10.1002/humu.23393
By:
- Oetting, William S.;
- Béroud, Christophe;
- Brenner, Steven E.;
- Greenblatt, Marc S.;
- Karchin, Rachel;
- Mooney, Sean D.
Publication type:
Article
Alu element insertion in <italic>PKLR</italic> gene as a novel cause of pyruvate kinase deficiency in Middle Eastern patients.
Published in:
Human Mutation, 2018, v. 39, n. 3, p. 389, doi. 10.1002/humu.23392
By:
- Lesmana, Harry;
- Dyer, Lisa;
- Li, Xia;
- Denton, James;
- Griffiths, Jenna;
- Chonat, Satheesh;
- Seu, Katie G.;
- Heeney, Matthew M.;
- Zhang, Kejian;
- Hopkin, Robert J.;
- Kalfa, Theodosia A.
Publication type:
Article
<italic>MYO5B</italic>, <italic>STX3</italic>, and <italic>STXBP2</italic> mutations reveal a common disease mechanism that unifies a subset of congenital diarrheal disorders: A mutation update.
Published in:
Human Mutation, 2018, v. 39, n. 3, p. 333, doi. 10.1002/humu.23386
By:
- Dhekne, Herschel S.;
- Pylypenko, Olena;
- Overeem, Arend W.;
- Ferreira, Rosaria J.;
- van der Velde, K. Joeri;
- Rings, Edmond H. H. M.;
- Posovszky, Carsten;
- Swertz, Morris A.;
- Houdusse, Anne;
- van IJzendoorn, Sven C. D.
Publication type:
Article
Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive <italic>TNNT3</italic> splice variant.
Published in:
Human Mutation, 2018, v. 39, n. 3, p. 383, doi. 10.1002/humu.23385
By:
- Sandaradura, Sarah A.;
- Bournazos, Adam;
- Mallawaarachchi, Amali;
- Cummings, Beryl B.;
- Waddell, Leigh B.;
- Jones, Kristi J.;
- Troedson, Christopher;
- Sudarsanam, Annapurna;
- Nash, Benjamin M.;
- Peters, Gregory B.;
- Algar, Elizabeth M.;
- MacArthur, Daniel G.;
- North, Kathryn N.;
- Brammah, Susan;
- Charlton, Amanda;
- Laing, Nigel G.;
- Wilson, Meredith J.;
- Davis, Mark R.;
- Cooper, Sandra T.
Publication type:
Article
Exonic mutations and exon skipping: Lessons learned from <italic>DFNA5</italic>.
Published in:
Human Mutation, 2018, v. 39, n. 3, p. 433, doi. 10.1002/humu.23384
By:
- Booth, Kevin T.;
- Azaiez, Hela;
- Kahrizi, Kimia;
- Wang, Donghong;
- Zhang, Yuzhou;
- Frees, Kathy;
- Nishimura, Carla;
- Najmabadi, Hossein;
- Smith, Richard J.
Publication type:
Article
A noncoding variant in <italic>GANAB</italic> explains isolated polycystic liver disease (PCLD) in a large family.
Published in:
Human Mutation, 2018, v. 39, n. 3, p. 378, doi. 10.1002/humu.23383
By:
- Besse, Whitney;
- Choi, Jungmin;
- Ahram, Dina;
- Mane, Shrikant;
- Sanna‐Cherchi, Simone;
- Torres, Vicente;
- Somlo, Stefan
Publication type:
Article
Structural and sequence variants in patients with Silver‐Russell syndrome or similar features—Curation of a disease database.
Published in:
Human Mutation, 2018, v. 39, n. 3, p. 345, doi. 10.1002/humu.23382
By:
- Tümer, Zeynep;
- López‐Hernández, Julia Angélica;
- Netchine, Irène;
- Elbracht, Miriam;
- Grønskov, Karen;
- Gede, Lene Bjerring;
- Sachwitz, Jana;
- den Dunnen, Johan T.;
- Eggermann, Thomas
Publication type:
Article
Autosomal recessive primary microcephaly due to <italic>ASPM</italic> mutations: An update.
Published in:
Human Mutation, 2018, v. 39, n. 3, p. 319, doi. 10.1002/humu.23381
By:
- Létard, Pascaline;
- Drunat, Séverine;
- Vial, Yoann;
- Duerinckx, Sarah;
- Ernault, Anais;
- Amram, Daniel;
- Arpin, Stéphanie;
- Bertoli, Marta;
- Busa, Tiffany;
- Ceulemans, Berten;
- Desir, Julie;
- Doco‐Fenzy, Martine;
- Elalaoui, Siham Chafai;
- Devriendt, Koenraad;
- Faivre, Laurence;
- Francannet, Christine;
- Geneviève, David;
- Gérard, Marion;
- Gitiaux, Cyril;
- Julia, Sophie
Publication type:
Article
Substrate interaction defects in histidyl‐tRNA synthetase linked to dominant axonal peripheral neuropathy.
Published in:
Human Mutation, 2018, v. 39, n. 3, p. 415, doi. 10.1002/humu.23380
By:
- Abbott, Jamie A.;
- Meyer‐Schuman, Rebecca;
- Lupo, Vincenzo;
- Feely, Shawna;
- Mademan, Inès;
- Oprescu, Stephanie N.;
- Griffin, Laurie B.;
- Alberti, M. Antonia;
- Casasnovas, Carlos;
- Aharoni, Sharon;
- Basel‐Vanagaite, Lina;
- Züchner, Stephan;
- De Jonghe, Peter;
- Baets, Jonathan;
- Shy, Michael E.;
- Espinós, Carmen;
- Demeler, Borries;
- Antonellis, Anthony;
- Francklyn, Christopher
Publication type:
Article
Major improvement in the detection of microsatellite instability in colorectal cancer using HSP110 T17 E‐<italic>ice</italic>‐COLD‐PCR.
Published in:
Human Mutation, 2018, v. 39, n. 3, p. 441, doi. 10.1002/humu.23379
By:
- How‐Kit, Alexandre;
- Daunay, Antoine;
- Buhard, Olivier;
- Meiller, Clément;
- Sahbatou, Mourad;
- Collura, Ada;
- Duval, Alex;
- Deleuze, Jean‐François
Publication type:
Article
Whole exome sequencing identifies a germline <italic>MET</italic> mutation in two siblings with hereditary wild‐type <italic>RET</italic> medullary thyroid cancer.
Published in:
Human Mutation, 2018, v. 39, n. 3, p. 371, doi. 10.1002/humu.23378
By:
- Sponziello, Marialuisa;
- Benvenuti, Silvia;
- Gentile, Alessandra;
- Pecce, Valeria;
- Rosignolo, Francesca;
- Virzì, Anna Rita;
- Milan, Melissa;
- Comoglio, Paolo M.;
- Londin, Eric;
- Fortina, Paolo;
- Barnabei, Agnese;
- Appetecchia, Marialuisa;
- Marandino, Ferdinando;
- Russo, Diego;
- Filetti, Sebastiano;
- Durante, Cosimo;
- Verrienti, Antonella
Publication type:
Article
Properties of human genes guided by their enrichment in rare and common variants.
Published in:
Human Mutation, 2018, v. 39, n. 3, p. 365, doi. 10.1002/humu.23377
By:
- Alhuzimi, Eman;
- Leal, Luis G.;
- Sternberg, Michael J. E.;
- David, Alessia
Publication type:
Article
Mutations in COQ8B (ADCK4) found in patients with steroid‐resistant nephrotic syndrome alter COQ8B function.
Published in:
Human Mutation, 2018, v. 39, n. 3, p. 406, doi. 10.1002/humu.23376
By:
- Vazquez Fonseca, Luis;
- Doimo, Mara;
- Calderan, Cristina;
- Desbats, Maria Andrea;
- Acosta, Manuel J.;
- Cerqua, Cristina;
- Cassina, Matteo;
- Ashraf, Shazia;
- Hildebrandt, Friedhelm;
- Sartori, Geppo;
- Navas, Placido;
- Trevisson, Eva;
- Salviati, Leonardo
Publication type:
Article
An evaluation of the challenges to developing tumor BRCA1 and BRCA2 testing methodologies for clinical practice.
Published in:
Human Mutation, 2018, v. 39, n. 3, p. 394, doi. 10.1002/humu.23375
By:
- Ellison, Gillian;
- Ahdesmäki, Miika;
- Luke, Sally;
- Waring, Paul M.;
- Wallace, Andrew;
- Wright, Ronnie;
- Röthlisberger, Benno;
- Ludin, Katja;
- Merkelbach‐Bruse, Sabine;
- Heydt, Carina;
- Ligtenberg, Marjolijn J. L.;
- Mensenkamp, Arjen R.;
- de Castro, David Gonzalez;
- Jones, Thomas;
- Vivancos, Ana;
- Kondrashova, Olga;
- Pauwels, Patrick;
- Weyn, Christine;
- Hahnen, Eric;
- Hauke, Jan
Publication type:
Article
Issue Information.
Published in:
Human Mutation, 2018, v. 39, n. 3, p. 315, doi. 10.1002/humu.23324
Publication type:
Article

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