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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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