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Cover Image, Volume 39, Issue 2.
Published in:
Human Mutation, 2018, v. 39, n. 2, p. i, doi. 10.1002/humu.23391
By:
- Signorino, Giulia;
- Covaceuszach, Sonia;
- Bozzi, Manuela;
- Hübner, Wolfgang;
- Mönkemöller, Viola;
- Konarev, Petr V.;
- Cassetta, Alberto;
- Brancaccio, Andrea;
- Sciandra, Francesca
Publication type:
Article
Evaluation of exome filtering techniques for the analysis of clinically relevant genes.
Published in:
Human Mutation, 2018, v. 39, n. 2, p. 197, doi. 10.1002/humu.23374
By:
- Kernohan, Kristin D.;
- Hartley, Taila;
- Alirezaie, Najmeh;
- Care4Rare Canada Consortium;
- Robinson, Peter N.;
- Dyment, David A.;
- Boycott, Kym M.
Publication type:
Article
Inactivation of <italic>AMMECR1</italic> is associated with growth, bone, and heart alterations.
Published in:
Human Mutation, 2018, v. 39, n. 2, p. 281, doi. 10.1002/humu.23373
By:
- Moysés‐Oliveira, Mariana;
- Giannuzzi, Giuliana;
- Fish, Richard J.;
- Rosenfeld, Jill A.;
- Petit, Florence;
- Soares, Maria de Fatima;
- Kulikowski, Leslie Domenici;
- Di‐Battista, Adriana;
- Zamariolli, Malú;
- Xia, Fan;
- Liehr, Thomas;
- Kosyakova, Nadezda;
- Carvalheira, Gianna;
- Parker, Michael;
- Seaby, Eleanor G.;
- Ennis, Sarah;
- Gilbert, Rodney D.;
- Hagelstrom, R. Tanner;
- Cremona, Maria L.;
- Li, Wenhui L.
Publication type:
Article
<italic>EYS</italic> mutation update: In silico assessment of 271 reported and 26 novel variants in patients with retinitis pigmentosa.
Published in:
Human Mutation, 2018, v. 39, n. 2, p. 177, doi. 10.1002/humu.23371
By:
- Messchaert, Muriël;
- Haer‐Wigman, Lonneke;
- Khan, Muhammad I.;
- Cremers, Frans P. M.;
- Collin, Rob W. J.
Publication type:
Article
A dystroglycan mutation (p.Cys667Phe) associated to muscle‐eye‐brain disease with multicystic leucodystrophy results in ER‐retention of the mutant protein.
Published in:
Human Mutation, 2018, v. 39, n. 2, p. 266, doi. 10.1002/humu.23370
By:
- Signorino, Giulia;
- Covaceuszach, Sonia;
- Bozzi, Manuela;
- Hübner, Wolfgang;
- Mönkemöller, Viola;
- Konarev, Petr V.;
- Cassetta, Alberto;
- Brancaccio, Andrea;
- Sciandra, Francesca
Publication type:
Article
A nonstop variant in <italic>REEP1</italic> causes peripheral neuropathy by unmasking a 3′UTR‐encoded, aggregation‐inducing motif.
Published in:
Human Mutation, 2018, v. 39, n. 2, p. 193, doi. 10.1002/humu.23369
By:
- Bock, Andrea S.;
- Günther, Sven;
- Mohr, Julia;
- Goldberg, Lisa V.;
- Jahic, Amir;
- Klisch, Cornelia;
- Hübner, Christian A.;
- Biskup, Saskia;
- Beetz, Christian
Publication type:
Article
A loss‐of‐function homozygous mutation in <italic>DDX59</italic> implicates a conserved DEAD‐box RNA helicase in nervous system development and function.
Published in:
Human Mutation, 2018, v. 39, n. 2, p. 187, doi. 10.1002/humu.23368
By:
- Salpietro, Vincenzo;
- Efthymiou, Stephanie;
- Manole, Andreea;
- Maurya, Bhawana;
- Wiethoff, Sarah;
- Ashokkumar, Balasubramaniem;
- Cutrupi, Maria Concetta;
- Dipasquale, Valeria;
- Manti, Sara;
- Botia, Juan A.;
- Ryten, Mina;
- Vandrovcova, Jana;
- Bello, Oscar D.;
- Bettencourt, Conceicao;
- Mankad, Kshitij;
- Mukherjee, Ashim;
- Mutsuddi, Mousumi;
- Houlden, Henry
Publication type:
Article
<italic>ERCC4</italic> variants identified in a cohort of patients with segmental progeroid syndromes.
Published in:
Human Mutation, 2018, v. 39, n. 2, p. 255, doi. 10.1002/humu.23367
By:
- Mori, Takayasu;
- Yousefzadeh, Matthew J.;
- Faridounnia, Maryam;
- Chong, Jessica X.;
- Hisama, Fuki M.;
- Hudgins, Louanne;
- Mercado, Gabriela;
- Wade, Erin A.;
- Barghouthy, Amira S.;
- Lee, Lin;
- Martin, George M.;
- Nickerson, Deborah A.;
- Bamshad, Michael J.;
- University of Washington Center for Mendelian Genomics;
- Niedernhofer, Laura J.;
- Oshima, Junko
Publication type:
Article
A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families.
Published in:
Human Mutation, 2018, v. 39, n. 2, p. 237, doi. 10.1002/humu.23366
By:
- Kimble, Danielle C.;
- Lach, Francis P.;
- Gregg, Siobhan Q.;
- Donovan, Frank X.;
- Flynn, Elizabeth K.;
- Kamat, Aparna;
- Young, Alice;
- Vemulapalli, Meghana;
- Thomas, James W.;
- Mullikin, James C.;
- Auerbach, Arleen D.;
- Smogorzewska, Agata;
- Chandrasekharappa, Settara C.
Publication type:
Article
Structural and functional differences in <italic>PHOX2B</italic> frameshift mutations underlie isolated or syndromic congenital central hypoventilation syndrome.
Published in:
Human Mutation, 2018, v. 39, n. 2, p. 219, doi. 10.1002/humu.23365
By:
- Di Lascio, Simona;
- Benfante, Roberta;
- Di Zanni, Eleonora;
- Cardani, Silvia;
- Adamo, Annalisa;
- Fornasari, Diego;
- Ceccherini, Isabella;
- Bachetti, Tiziana
Publication type:
Article
Urine‐derived podocytes‐lineage cells: A promising tool for precision medicine in Alport Syndrome.
Published in:
Human Mutation, 2018, v. 39, n. 2, p. 302, doi. 10.1002/humu.23364
By:
- Daga, Sergio;
- Baldassarri, Margherita;
- Lo Rizzo, Caterina;
- Fallerini, Chiara;
- Imperatore, Valentina;
- Longo, Ilaria;
- Frullanti, Elisa;
- Landucci, Elisa;
- Massella, Laura;
- Pecoraro, Carmine;
- Garosi, Guido;
- Ariani, Francesca;
- Mencarelli, Maria Antonietta;
- Mari, Francesca;
- Renieri, Alessandra;
- Pinto, Anna Maria
Publication type:
Article
Enzyme replacement therapy prevents loss of bone and fat mass in murine homocystinuria.
Published in:
Human Mutation, 2018, v. 39, n. 2, p. 210, doi. 10.1002/humu.23360
By:
- Majtan, Tomas;
- Park, Insun;
- Bublil, Erez M.;
- Kraus, Jan P.
Publication type:
Article
Quantitative mapping of genetic similarity in human heritable diseases by shared mutations.
Published in:
Human Mutation, 2018, v. 39, n. 2, p. 292, doi. 10.1002/humu.23358
By:
- Zhao, Huiying;
- Yang, Yuedong;
- Lu, Yutong;
- Mort, Matthew;
- Cooper, David N.;
- Zuo, Zhiyi;
- Zhou, Yaoqi
Publication type:
Article
Gain‐of‐function <italic>HCN2</italic> variants in genetic epilepsy.
Published in:
Human Mutation, 2018, v. 39, n. 2, p. 202, doi. 10.1002/humu.23357
By:
- Li, Melody;
- Maljevic, Snezana;
- Phillips, A. Marie;
- Petrovski, Slave;
- Hildebrand, Michael S.;
- Burgess, Rosemary;
- Mount, Therese;
- Zara, Federico;
- Striano, Pasquale;
- Schubert, Julian;
- Thiele, Holger;
- Nürnberg, Peter;
- Wong, Michael;
- Weisenberg, Judith L.;
- Thio, Liu Lin;
- Lerche, Holger;
- Scheffer, Ingrid E.;
- Berkovic, Samuel F.;
- Petrou, Steven;
- Reid, Christopher A.
Publication type:
Article
Issue Information.
Published in:
Human Mutation, 2018, v. 39, n. 2, p. 173, doi. 10.1002/humu.23323
Publication type:
Article

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