Works matching IS 10597794 AND DT 2018 AND VI 39 AND IP 12

Results: 34

Cover Image, Volume 39, Issue 12.

Published in:

Human Mutation, 2018, v. 39, n. 12, p. i, doi. 10.1002/humu.23687

By:

Proietti Onori, Martina;
Koopal, Balwina;
Everman, David B.;
Worthington, Jessica D.;
Jones, Julie R.;
Ploeg, Melissa A.;
Mientjes, Edwin;
Bon, Bregje W.;
Kleefstra, Tjitske;
Schulman, Howard;
Kushner, Steven A.;
Küry, Sébastien;
Elgersma, Ype;
Woerden, Geeske M.

Publication type:

Article

Back Cover, Volume 39, Issue 12.

Published in:

Human Mutation, 2018, v. 39, n. 12, p. ii, doi. 10.1002/humu.23685

By:

Schubert, Jeffrey;
Tariq, Muhammad;
Geddes, Gabrielle;
Kindel, Steven;
Miller, Erin M.;
Ware, Stephanie M.

Publication type:

Article

CardioVAI: An automatic implementation of ACMG‐AMP variant interpretation guidelines in the diagnosis of cardiovascular diseases.

Published in:

Human Mutation, 2018, v. 39, n. 12, p. 1835, doi. 10.1002/humu.23665

By:

Nicora, Giovanna;
Limongelli, Ivan;
Gambelli, Patrick;
Memmi, Mirella;
Malovini, Alberto;
Mazzanti, Andrea;
Napolitano, Carlo;
Priori, Silvia;
Bellazzi, Riccardo

Publication type:

Article

In vitro functional characterization of the novel DHH mutations p.(Asn337Lysfs*24) and p.(Glu212Lys) associated with gonadal dysgenesis.

Published in:

Human Mutation, 2018, v. 39, n. 12, p. 2097, doi. 10.1002/humu.23664

By:

Tajouri, Asma;
Kharrat, Maher;
Hizem, Syrine;
Zaghdoudi, Hajer;
M'rad, Ridha;
Simic‐Schleicher, Gunter;
Kaiser, Frank J.;
Hiort, Olaf;
Werner, Ralf

Publication type:

Article

Is evolutionary loss our gain? The role of ACTN3 p.Arg577Ter (R577X) genotype in athletic performance, ageing, and disease.

Published in:

Human Mutation, 2018, v. 39, n. 12, p. 1774, doi. 10.1002/humu.23663

By:

Houweling, Peter J.;
Papadimitriou, Ioannis D.;
Seto, Jane T.;
Pérez, Laura M.;
Coso, Juan Del;
North, Kathryn N.;
Lucia, Alejandro;
Eynon, Nir

Publication type:

Article

Novel pathogenic variants in filamin C identified in pediatric restrictive cardiomyopathy.

Published in:

Human Mutation, 2018, v. 39, n. 12, p. 2083, doi. 10.1002/humu.23661

By:

Schubert, Jeffrey;
Tariq, Muhammad;
Geddes, Gabrielle;
Kindel, Steven;
Miller, Erin M.;
Ware, Stephanie M.

Publication type:

Article

The mutation‐dependent pathogenicity of NPHS2 p.R229Q: A guide for clinical assessment.

Published in:

Human Mutation, 2018, v. 39, n. 12, p. 1854, doi. 10.1002/humu.23660

By:

Mikó, Ágnes;
K. Menyhárd, Dóra;
Kaposi, Ambrus;
Antignac, Corinne;
Tory, Kálmán

Publication type:

Article

Antisense oligonucleotides modulate dopa decarboxylase function in aromatic l‐amino acid decarboxylase deficiency.

Published in:

Human Mutation, 2018, v. 39, n. 12, p. 2072, doi. 10.1002/humu.23659

By:

Tsai, Chi‐Ren;
Lee, Hsiu‐Fen;
Chi, Ching‐Shiang;
Yang, Ming‐Te;
Hsu, Chia‐Chi

Publication type:

Article

Inhibition of mitochondrial translation in fibroblasts from a patient expressing the KARS p.(Pro228Leu) variant and presenting with sensorineural deafness, developmental delay, and lactic acidosis.

Published in:

Human Mutation, 2018, v. 39, n. 12, p. 2047, doi. 10.1002/humu.23657

By:

Ruzzenente, Benedetta;
Assouline, Zahra;
Barcia, Giulia;
Rio, Marlène;
Boddaert, Nathalie;
Munnich, Arnold;
Rötig, Agnès;
Metodiev, Metodi D.

Publication type:

Article

Concurrent AFG3L2 and SPG7 mutations associated with syndromic parkinsonism and optic atrophy with aberrant OPA1 processing and mitochondrial network fragmentation.

Published in:

Human Mutation, 2018, v. 39, n. 12, p. 2060, doi. 10.1002/humu.23658

By:

Magri, Stefania;
Fracasso, Valentina;
Plumari, Massimo;
Alfei, Enrico;
Ghezzi, Daniele;
Gellera, Cinzia;
Rusmini, Paola;
Poletti, Angelo;
Bella, Daniela;
Elia, Antonio E.;
Pantaleoni, Chiara;
Taroni, Franco

Publication type:

Article

Current review of TP53 pathogenic germline variants in breast cancer patients outside Li‐Fraumeni syndrome.

Published in:

Human Mutation, 2018, v. 39, n. 12, p. 1764, doi. 10.1002/humu.23656

By:

Fortuno, Cristina;
James, Paul A.;
Spurdle, Amanda B.

Publication type:

Article

matchbox: An open‐source tool for patient matching via the Matchmaker Exchange.

Published in:

Human Mutation, 2018, v. 39, n. 12, p. 1827, doi. 10.1002/humu.23655

By:

Arachchi, Harindra;
Wojcik, Monica H;
Weisburd, Benjamin;
Jacobsen, Julius O. B.;
Valkanas, Elise;
Baxter, Samantha;
Byrne, Alicia B.;
O'Donnell‐Luria, Anne H.;
Haendel, Melissa;
Smedley, Damian;
MacArthur, Daniel G.;
Philippakis, Anthony A.;
Rehm, Heidi L.

Publication type:

Article

Diagnosis of Li‐Fraumeni Syndrome: Differentiating TP53 germline mutations from clonal hematopoiesis.

Published in:

Human Mutation, 2018, v. 39, n. 12, p. 2040, doi. 10.1002/humu.23653

By:

Weber‐Lassalle, Konstantin;
Harter, Philipp;
Hauke, Jan;
Ernst, Corinna;
Kommoss, Stefan;
Marmé, Frederik;
Weber‐Lassalle, Nana;
Prieske, Katharina;
Dietrich, Dimo;
Borde, Julika;
Pohl‐Rescigno, Esther;
Reuss, Alexander;
Ataseven, Beyhan;
Engel, Christoph;
Stingl, Julia C.;
Schmutzler, Rita K.;
Hahnen, Eric

Publication type:

Article

BRCA1 and BRCA2 5′ noncoding region variants identified in breast cancer patients alter promoter activity and protein binding.

Published in:

Human Mutation, 2018, v. 39, n. 12, p. 2025, doi. 10.1002/humu.23652

By:

Burke, Leslie J.;
Sevcik, Jan;
Gambino, Gaetana;
Tudini, Emma;
Mucaki, Eliseos J.;
Shirley, Ben C.;
Whiley, Phillip;
Parsons, Michael T.;
Leeneer, Kim;
Gutiérrez‐Enríquez, Sara;
Santamariña, Marta;
Caputo, Sandrine M.;
Santana dos Santos, Elizabeth;
Soukupova, Jana;
Janatova, Marketa;
Zemankova, Petra;
Lhotova, Klara;
Stolarova, Lenka;
Borecka, Mariana;
Moles‐Fernández, Alejandro

Publication type:

Article

Analysis of novel missense ATR mutations reveals new splicing defects underlying Seckel syndrome.

Published in:

Human Mutation, 2018, v. 39, n. 12, p. 1847, doi. 10.1002/humu.23648

By:

Llorens‐Agost, Marta;
Luessing, Janna;
Beneden, Amandine;
Eykelenboom, John;
O'Reilly, Dawn;
Bicknell, Louise S;
Reynolds, John J;
Koegelenberg, Marianne;
Hurles, Matthew E;
Brady, Angela F;
Jackson, Andrew P;
Stewart, Grant S;
Lowndes, Noel F

Publication type:

Article

The intellectual disability‐associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain‐of‐function.

Published in:

Human Mutation, 2018, v. 39, n. 12, p. 2008, doi. 10.1002/humu.23647

By:

Proietti Onori, Martina;
Koopal, Balwina;
Everman, David B.;
Worthington, Jessica D.;
Jones, Julie R.;
Ploeg, Melissa A.;
Mientjes, Edwin;
Bon, Bregje W.;
Kleefstra, Tjitske;
Schulman, Howard;
Kushner, Steven A.;
Küry, Sébastien;
Elgersma, Ype;
Woerden, Geeske M.

Publication type:

Article

Insights into the genotype‐phenotype correlation and molecular function of SLC25A46.

Published in:

Human Mutation, 2018, v. 39, n. 12, p. 1995, doi. 10.1002/humu.23639

By:

Abrams, Alexander J.;
Fontanesi, Flavia;
Tan, Natalie B. L.;
Buglo, Elena;
Campeanu, Ion J.;
Rebelo, Adriana P.;
Kornberg, Andrew J.;
Phelan, Dean G.;
Stark, Zornitza;
Zuchner, Stephan

Publication type:

Article

Hyaline fibromatosis syndrome: Clinical update and phenotype–genotype correlations.

Published in:

Human Mutation, 2018, v. 39, n. 12, p. 1752, doi. 10.1002/humu.23638

By:

Casas‐Alba, Dídac;
Martínez‐Monseny, Antonio;
Pino‐Ramírez, Rosa M.;
Alsina, Laia;
Castejón, Esperanza;
Navarro‐Vilarrubí, Sergi;
Pérez‐Dueñas, Belén;
Serrano, Mercedes;
Palau, Francesc;
García‐Alix, Alfredo

Publication type:

Article

STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility.

Published in:

Human Mutation, 2018, v. 39, n. 12, p. 1980, doi. 10.1002/humu.23635

By:

Zaharieva, Irina T.;
Sarkozy, Anna;
Munot, Pinki;
Manzur, Adnan;
O'Grady, Gina;
Rendu, John;
Malfatti, Eduardo;
Amthor, Helge;
Servais, Laurent;
Urtizberea, J. Andoni;
Neto, Osorio Abath;
Zanoteli, Edmar;
Donkervoort, Sandra;
Taylor, Juliet;
Dixon, Joanne;
Poke, Gemma;
Foley, A. Reghan;
Holmes, Chris;
Williams, Glyn;
Holder, Muriel

Publication type:

Article

A single‐center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion.

Published in:

Human Mutation, 2018, v. 39, n. 12, p. 1885, doi. 10.1002/humu.23629

By:

Nardella, Grazia;
Visci, Grazia;
Guarnieri, Vito;
Castellana, Stefano;
Biagini, Tommaso;
Bisceglia, Luigi;
Palumbo, Orazio;
Trivisano, Marina;
Vaira, Carmela;
Scerrati, Massimo;
Debrasi, Davide;
D'Angelo, Vincenzo;
Carella, Massimo;
Merla, Giuseppe;
Mazza, Tommaso;
Castori, Marco;
D'Agruma, Leonardo;
Fusco, Carmela

Publication type:

Article

Association analysis of exome variants and refraction, axial length, and corneal curvature in a European–American population.

Published in:

Human Mutation, 2018, v. 39, n. 12, p. 1973, doi. 10.1002/humu.23628

By:

Vergara, Candelaria;
Bomotti, Samantha M.;
Valencia, Cristian;
Klein, Barbara E.K.;
Lee, Kristine E.;
Klein, Ronald;
Klein, Alison P.;
Duggal, Priya

Publication type:

Article

Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants.

Published in:

Human Mutation, 2018, v. 39, n. 12, p. 1875, doi. 10.1002/humu.23627

By:

Granadillo, Jorge L.;
Chung, Wendy K.;
Hecht, Leah;
Corsten‐Janssen, Nicole;
Wegner, Daniel;
Nij Bijvank, Sebastiaan W.A.;
Toler, Tomi L.;
Pineda‐Alvarez, Daniel E.;
Douglas, Ganka;
Murphy, Joshua J.;
Shimony, Joshua;
Shinawi, Marwan

Publication type:

Article

Functionally significant, novel GATA4 variants are frequently associated with Tetralogy of Fallot.

Published in:

Human Mutation, 2018, v. 39, n. 12, p. 1957, doi. 10.1002/humu.23620

By:

Dixit, Ritu;
Narasimhan, Chitra;
Balekundri, Vijyalakshmi I.;
Agrawal, Damyanti;
Kumar, Ashok;
Mohapatra, Bhagyalaxmi

Publication type:

Article

Relationship of electrophysiological dysfunction and clinical severity in SCN2A‐related epilepsies.

Published in:

Human Mutation, 2018, v. 39, n. 12, p. 1942, doi. 10.1002/humu.23619

By:

Lauxmann, Stephan;
Verbeek, Nienke E.;
Liu, Yuanyuan;
Zaichuk, Mariana;
Müller, Stephan;
Lemke, Johannes R.;
Kempen, Marjan J.A.;
Lerche, Holger;
Hedrich, Ulrike B.S.

Publication type:

Article

Exploring genetic modifiers of Gaucher disease: The next horizon.

Published in:

Human Mutation, 2018, v. 39, n. 12, p. 1739, doi. 10.1002/humu.23611

By:

Davidson, Brad A.;
Hassan, Shahzeb;
Garcia, Eric Joshua;
Tayebi, Nahid;
Sidransky, Ellen

Publication type:

Article

hgvs: A Python package for manipulating sequence variants using HGVS nomenclature: 2018 Update.

Published in:

Human Mutation, 2018, v. 39, n. 12, p. 1803, doi. 10.1002/humu.23615

By:

Wang, Meng;
Callenberg, Keith M.;
Dalgleish, Raymond;
Fedtsov, Alexandre;
Fox, Naomi K.;
Freeman, Peter J.;
Jacobs, Kevin B.;
Kaleta, Piotr;
McMurry, Andrew J.;
Prlić, Andreas;
Rajaraman, Veena;
Hart, Reece K.

Publication type:

Article

Characterization of mutation spectrum and identification of novel mutations in ATP7B gene from a cohort of Wilson disease patients: Functional and therapeutic implications.

Published in:

Human Mutation, 2018, v. 39, n. 12, p. 1926, doi. 10.1002/humu.23614

By:

Kumari, Niti;
Kumar, Aman;
Thapa, Babu Ram;
Modi, Manish;
Pal, Arnab;
Prasad, Rajendra

Publication type:

Article

Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene.

Published in:

Human Mutation, 2018, v. 39, n. 12, p. 1788, doi. 10.1002/humu.23613

By:

Tomanin, Rosella;
Karageorgos, Litsa;
Zanetti, Alessandra;
Al‐Sayed, Moeenaldeen;
Bailey, Mitch;
Miller, Nicole;
Sakuraba, Hitoshi;
Hopwood, John J.

Publication type:

Article

Mutation update for the GPC3 gene involved in Simpson–Golabi–Behmel syndrome and review of the literature.

Published in:

Human Mutation, 2018, v. 39, n. 12, p. 2110, doi. 10.1002/humu.23612

By:

Vuillaume, Marie‐Laure;
Moizard, Marie‐Pierre;
Rossignol, Sylvie;
Cottereau, Edouard;
Vonwill, Sandrine;
Alessandri, Jean‐Luc;
Busa, Tiffany;
Colin, Estelle;
Gérard, Marion;
Giuliano, Fabienne;
Lambert, Laetitia;
Lefevre, Mathilde;
Kotecha, Udhaya;
Nampoothiri, Sheela;
Netchine, Irène;
Raynaud, Martine;
Brioude, Frédéric;
Toutain, Annick

Publication type:

Article

RheoScale: A tool to aggregate and quantify experimentally determined substitution outcomes for multiple variants at individual protein positions.

Published in:

Human Mutation, 2018, v. 39, n. 12, p. 1814, doi. 10.1002/humu.23616

By:

Hodges, Abby M.;
Fenton, Aron W.;
Dougherty, Larissa L.;
Overholt, Andrew C.;
Swint‐Kruse, Liskin

Publication type:

Article

LINE‐ and Alu‐containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV.

Published in:

Human Mutation, 2018, v. 39, n. 12, p. 1916, doi. 10.1002/humu.23608

By:

Szafranski, Przemyslaw;
Kośmider, Ewelina;
Liu, Qian;
Karolak, Justyna A.;
Currie, Lauren;
Parkash, Sandhya;
Kahler, Stephen G.;
Roeder, Elizabeth;
Littlejohn, Rebecca O.;
DeNapoli, Thomas S.;
Shardonofsky, Felix R.;
Henderson, Cody;
Powers, George;
Poisson, Virginie;
Bérubé, Denis;
Oligny, Luc;
Michaud, Jacques L.;
Janssens, Sandra;
Coen, Kris;
Dorpe, Jo

Publication type:

Article

Mutant NR5A1/SF‐1 in patients with disorders of sex development shows defective activation of the SOX9 TESCO enhancer.

Published in:

Human Mutation, 2018, v. 39, n. 12, p. 1861, doi. 10.1002/humu.23603

By:

Sreenivasan, Rajini;
Ludbrook, Louisa;
Fisher, Brett;
Declosmenil, Faustine;
Knower, Kevin C.;
Croft, Brittany;
Bird, Anthony D.;
Ryan, Janelle;
Bashamboo, Anu;
Sinclair, Andrew H.;
Koopman, Peter;
McElreavey, Ken;
Poulat, Francis;
Harley, Vincent R.

Publication type:

Article

Motor protein binding and mitochondrial transport are altered by pathogenic TUBB4A variants.

Published in:

Human Mutation, 2018, v. 39, n. 12, p. 1901, doi. 10.1002/humu.23602

By:

Vulinovic, Franca;
Krajka, Victor;
Hausrat, Torben J.;
Seibler, Philip;
Alvarez‐Fischer, Daniel;
Madoev, Harutyun;
Park, Jin‐Sung;
Kumar, Kishore R.;
Sue, Carolyn M.;
Lohmann, Katja;
Kneussel, Matthias;
Klein, Christine;
Rakovic, Aleksandar

Publication type:

Article

Issue Information.

Published in:: Human Mutation, 2018, v. 39, n. 12, p. 1733, doi. 10.1002/humu.23333
Publication type:: Article