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Pyruvate carboxylase deficiency type A and type C: Characterization of five novel pathogenic variants in PC and analysis of the genotype–phenotype correlation.
Published in:
Human Mutation, 2019, v. 40, n. 6, p. 816, doi. 10.1002/humu.23742
By:
- Coci, Emanuele G.;
- Gapsys, Vytautas;
- Shur, Natasha;
- Shin‐Podskarbi, Yoon;
- Groot, Bert L.;
- Miller, Kathryn;
- Vockley, Jerry;
- Sondheimer, Neal;
- Ganetzky, Rebecca;
- Freisinger, Peter
Publication type:
Article
Proposition of adjustments to the ACMG‐AMP framework for the interpretation of MEN1 missense variants.
Published in:
Human Mutation, 2019, v. 40, n. 6, p. 661, doi. 10.1002/humu.23746
By:
- Romanet, Pauline;
- Odou, Marie‐Françoise;
- North, Marie‐Odile;
- Saveanu, Alexandru;
- Coppin, Lucie;
- Pasmant, Eric;
- Mohamed, Amira;
- Goudet, Pierre;
- Borson‐Chazot, Françoise;
- Calender, Alain;
- Béroud, Christophe;
- Lévy, Nicolas;
- Giraud, Sophie;
- Barlier, Anne
Publication type:
Article
Two CFTR mutations within codon 970 differently impact on the chloride channel functionality.
Published in:
Human Mutation, 2019, v. 40, n. 6, p. 742, doi. 10.1002/humu.23741
By:
- Amato, Felice;
- Scudieri, Paolo;
- Musante, Ilaria;
- Tomati, Valeria;
- Caci, Emanuela;
- Comegna, Marika;
- Maietta, Sabrina;
- Manzoni, Francesca;
- Di Lullo, Antonella Miriam;
- Wachter, Elke;
- Vanderhelst, Eef;
- Terlizzi, Vito;
- Braggion, Cesare;
- Castaldo, Giuseppe;
- Galietta, Luis J. V.
Publication type:
Article
Back Cover, Volume 40, Issue 6.
Published in:
Human Mutation, 2019, v. 40, n. 6, p. ii, doi. 10.1002/humu.23796
By:
- Marakhonov, Andrey V.;
- Brodehl, Andreas;
- Myasnikov, Roman P.;
- Sparber, Peter A.;
- Kiseleva, Anna V.;
- Kulikova, Olga V.;
- Meshkov, Alexey N.;
- Zharikova, Anastasia A.;
- Koretsky, Serguey N.;
- Kharlap, Maria S.;
- Stanasiuk, Caroline;
- Mershina, Elena A.;
- Sinitsyn, Valentin E.;
- Shevchenko, Alexey O.;
- Mozheyko, Natalia P.;
- Drapkina, Oksana M.;
- Boytsov, Sergey A.;
- Milting, Hendrik;
- Skoblov, Mikhail Yu.
Publication type:
Article
Front Cover, Volume 40, Issue 6.
Published in:
Human Mutation, 2019, v. 40, n. 6, p. i, doi. 10.1002/humu.23795
By:
- Carli, Diana;
- Giorgio, Elisa;
- Pantaleoni, Francesca;
- Bruselles, Alessandro;
- Barresi, Sabina;
- Riberi, Evelise;
- Licciardi, Francesco;
- Gazzin, Andrea;
- Baldassarre, Giuseppina;
- Pizzi, Simone;
- Niceta, Marcello;
- Radio, Francesca C.;
- Molinatto, Cristina;
- Montin, Davide;
- Calvo, Pier L.;
- Ciolfi, Andrea;
- Fleischer, Nicole;
- Ferrero, Giovanni B.;
- Brusco, Alfredo;
- Tartaglia, Marco
Publication type:
Article
Concern regarding classification of germline TP53 variants as likely pathogenic.
Published in:
Human Mutation, 2019, v. 40, n. 6, p. 828, doi. 10.1002/humu.23750
By:
- Evans, D. Gareth;
- Turnbull, Clare;
- Woodward, Emma R.
Publication type:
Article
Response to: Concern regarding classification of germlineTP53 variants as likely pathogenic.
Published in:
Human Mutation, 2019, v. 40, n. 6, p. 832, doi. 10.1002/humu.23749
By:
- Andrade, Kelvin C.;
- Frone, Megan N.;
- Wegman‐Ostrosky, Talia;
- Khincha, Payal P.;
- Kim, Jung;
- Amadou, Amina;
- Santiago, Karina M.;
- Fortes, Fernanda P.;
- Lemonnier, Nathanaël;
- Mirabello, Lisa;
- Stewart, Douglas R.;
- Hainaut, Pierre;
- Kowalski, Luiz P.;
- Savage, Sharon A.;
- Achatz, Maria I.
Publication type:
Article
Noncompaction cardiomyopathy is caused by a novel in‐frame desmin (DES) deletion mutation within the 1A coiled‐coil rod segment leading to a severe filament assembly defect.
Published in:
Human Mutation, 2019, v. 40, n. 6, p. 734, doi. 10.1002/humu.23747
By:
- Marakhonov, Andrey V.;
- Brodehl, Andreas;
- Myasnikov, Roman P.;
- Sparber, Peter A.;
- Kiseleva, Anna V.;
- Kulikova, Olga V.;
- Meshkov, Alexey N.;
- Zharikova, Anastasia A.;
- Koretsky, Serguey N.;
- Kharlap, Maria S.;
- Stanasiuk, Caroline;
- Mershina, Elena A.;
- Sinitsyn, Valentin E.;
- Shevchenko, Alexey O.;
- Mozheyko, Natalia P.;
- Drapkina, Oksana M.;
- Boytsov, Sergey A.;
- Milting, Hendrik;
- Skoblov, Mikhail Yu.
Publication type:
Article
Mutation update: TGFBI pathogenic and likely pathogenic variants in corneal dystrophies.
Published in:
Human Mutation, 2019, v. 40, n. 6, p. 675, doi. 10.1002/humu.23737
By:
- Kheir, Valeria;
- Cortés‐González, Vianney;
- Zenteno, Juan C.;
- Schorderet, Daniel F.
Publication type:
Article
A quantitative model to predict pathogenicity of missense variants in the TP53 gene.
Published in:
Human Mutation, 2019, v. 40, n. 6, p. 788, doi. 10.1002/humu.23739
By:
- Fortuno, Cristina;
- Cipponi, Arcadi;
- Ballinger, Mandy L.;
- Tavtigian, Sean V.;
- Olivier, Magali;
- Ruparel, Vatsal;
- Haupt, Ygal;
- Haupt, Sue;
- Study, International Sarcoma Kindred;
- Tucker, Kathy;
- Spurdle, Amanda B.;
- Thomas, David M.;
- James, Paul A.
Publication type:
Article
UniProt genomic mapping for deciphering functional effects of missense variants.
Published in:
Human Mutation, 2019, v. 40, n. 6, p. 694, doi. 10.1002/humu.23738
By:
- McGarvey, Peter B.;
- Nightingale, Andrew;
- Luo, Jie;
- Huang, Hongzhan;
- Martin, Maria J.;
- Wu, Cathy;
- Consortium, UniProt
Publication type:
Article
Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F‐mediated inherited retinal disorders.
Published in:
Human Mutation, 2019, v. 40, n. 6, p. 765, doi. 10.1002/humu.23735
By:
- Zeitz, Christina;
- Michiels, Christelle;
- Neuillé, Marion;
- Friedburg, Christoph;
- Condroyer, Christel;
- Boyard, Fiona;
- Antonio, Aline;
- Bouzidi, Nassima;
- Milicevic, Diana;
- Veaux, Robin;
- Tourville, Aurore;
- Zoumba, Axelle;
- Seneina, Imene;
- Foussard, Marine;
- Andrieu, Camille;
- N. Preising, Markus;
- Blanchard, Steven;
- Saraiva, Jean‐Paul;
- Mesrob, Lilia;
- Le Floch, Edith
Publication type:
Article
Prevalence, spectrum, and founder effect of BRCA1 and BRCA2 mutations in epithelial ovarian cancer from the Middle East.
Published in:
Human Mutation, 2019, v. 40, n. 6, p. 729, doi. 10.1002/humu.23736
By:
- Siraj, Abdul K.;
- Bu, Rong;
- Iqbal, Kaleem;
- Siraj, Nabil;
- Al‐Haqawi, Wael;
- Al‐Badawi, Ismail A.;
- Parvathareddy, Sandeep Kumar;
- Masoodi, Tariq;
- Tulbah, Asma;
- Al‐Dayel, Fouad;
- Al‐Kuraya, Khawla S.
Publication type:
Article
NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype–phenotype correlations.
Published in:
Human Mutation, 2019, v. 40, n. 6, p. 721, doi. 10.1002/humu.23734
By:
- Carli, Diana;
- Giorgio, Elisa;
- Pantaleoni, Francesca;
- Bruselles, Alessandro;
- Barresi, Sabina;
- Riberi, Evelise;
- Licciardi, Francesco;
- Gazzin, Andrea;
- Baldassarre, Giuseppina;
- Pizzi, Simone;
- Niceta, Marcello;
- Radio, Francesca C.;
- Molinatto, Cristina;
- Montin, Davide;
- Calvo, Pier L.;
- Ciolfi, Andrea;
- Fleischer, Nicole;
- Ferrero, Giovanni B.;
- Brusco, Alfredo;
- Tartaglia, Marco
Publication type:
Article
Genetic interpretation and clinical translation of minor genes related to Brugada syndrome.
Published in:
Human Mutation, 2019, v. 40, n. 6, p. 749, doi. 10.1002/humu.23730
By:
- Campuzano, Oscar;
- Sarquella‐Brugada, Georgia;
- Fernandez‐Falgueras, Anna;
- Cesar, Sergi;
- Coll, Monica;
- Mates, Jesus;
- Arbelo, Elena;
- Perez‐Serra, Alexandra;
- del Olmo, Bernat;
- Jordá, Paloma;
- Fiol, Victoria;
- Iglesias, Anna;
- Puigmulé, Marta;
- Lopez, Laura;
- Pico, Ferran;
- Brugada, Josep;
- Brugada, Ramon
Publication type:
Article
A new in silico approach to investigate molecular aspects of factor IX missense causative mutations and their impact on the hemophilia B severity.
Published in:
Human Mutation, 2019, v. 40, n. 6, p. 706, doi. 10.1002/humu.23733
By:
- Meireles, Mariana R.;
- Bragatte, Marcelo A.S.;
- Bandinelli, Eliane;
- Salzano, Francisco M.;
- Vieira, Gustavo F.
Publication type:
Article
Alu element insertion in the MLH1 exon 6 coding sequence as a mutation predisposing to Lynch syndrome.
Published in:
Human Mutation, 2019, v. 40, n. 6, p. 716, doi. 10.1002/humu.23725
By:
- Solassol, Jérôme;
- Larrieux, Marion;
- Leclerc, Julie;
- Ducros, Vincent;
- Corsini, Carole;
- Chiésa, Jean;
- Pujol, Pascal;
- Rey, Jean‐Marc
Publication type:
Article
Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype–phenotype correlations.
Published in:
Human Mutation, 2019, v. 40, n. 6, p. 801, doi. 10.1002/humu.23724
By:
- Zhou, Wei‐Zhen;
- Zhang, Jie;
- Li, Ziyi;
- Lin, Xiaojing;
- Li, Jiarui;
- Wang, Sheng;
- Yang, Changhong;
- Wu, Qixi;
- Ye, Adam Yongxin;
- Wang, Meng;
- Wang, Dandan;
- Pu, Tad Zhengzhang;
- Wu, Yu‐Yu;
- Wei, Liping
Publication type:
Article
Issue Information.
Published in:
Human Mutation, 2019, v. 40, n. 6, p. 497, doi. 10.1002/humu.23572
Publication type:
Article

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