Works matching IS 10597794 AND DT 2020 AND VI 41 AND IP 1

Results: 31

Inside Back Cover, Volume 41, Issue 1.
Published in:
Human Mutation, 2020, v. 41, n. 1, p. ii, doi. 10.1002/humu.23967
By:
- Hijazi, Hadia;
- Coelho, Fernanda S.;
- Gonzaga‐Jauregui, Claudia;
- Bernardini, Laura;
- Mar, Soe S.;
- Manning, Melanie A.;
- Hanson‐Kahn, Andrea;
- Naidu, SakkuBai;
- Srivastava, Siddharth;
- Lee, Jennifer A.;
- Jones, Julie R.;
- Friez, Michael J.;
- Alberico, Thomas;
- Torres, Barbara;
- Fang, Ping;
- Cheung, Sau Wai;
- Song, Xiaofei;
- Davis‐Williams, Angelique;
- Jornlin, Carly;
- Wight, Patricia A.
Publication type:
Article
Front Cover, Volume 41, Issue 1.
Published in:
Human Mutation, 2020, v. 41, n. 1, p. i, doi. 10.1002/humu.23966
By:
- Chen, Weisheng;
- Lin, Jiachen;
- Wang, Lianlei;
- Li, Xiaoxin;
- Zhao, Sen;
- Liu, Jiaqi;
- Akdemir, Zeynep C.;
- Zhao, Yanxue;
- Du, Renqian;
- Ye, Yongyu;
- Song, Xiaofei;
- Zhang, Yuanqiang;
- Yan, Zihui;
- Yang, Xinzhuang;
- Lin, Mao;
- Shen, Jianxiong;
- Wang, Shengru;
- Gao, Na;
- Yang, Ying;
- Liu, Ying
Publication type:
Article
Disease‐associated polymorphisms within the conserved ECR1 enhancer differentially regulate the tissue‐specific activity of the cannabinoid‐1 receptor gene promoter; implications for cannabinoid pharmacogenetics.
Published in:
Human Mutation, 2020, v. 41, n. 1, p. 291, doi. 10.1002/humu.23931
By:
- Hay, Elizabeth A.;
- Cowie, Philip;
- McEwan, Andrew R.;
- Ross, Ruth;
- Pertwee, Roger G.;
- MacKenzie, Alasdair
Publication type:
Article
Systematic quantification of the anion transport function of pendrin (SLC26A4) and its disease‐associated variants.
Published in:
Human Mutation, 2020, v. 41, n. 1, p. 316, doi. 10.1002/humu.23930
By:
- Wasano, Koichiro;
- Takahashi, Satoe;
- Rosenberg, Samuel K.;
- Kojima, Takashi;
- Mutai, Hideki;
- Matsunaga, Tatsuo;
- Ogawa, Kaoru;
- Homma, Kazuaki
Publication type:
Article
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1.
Published in:
Human Mutation, 2020, v. 41, n. 1, p. 299, doi. 10.1002/humu.23929
By:
- Koczkowska, Magdalena;
- Callens, Tom;
- Chen, Yunjia;
- Gomes, Alicia;
- Hicks, Alesha D.;
- Sharp, Angela;
- Johns, Eric;
- Uhas, Kim Armfield;
- Armstrong, Linlea;
- Bosanko, Katherine Armstrong;
- Babovic‐Vuksanovic, Dusica;
- Baker, Laura;
- Basel, Donald G.;
- Bengala, Mario;
- Bennett, James T.;
- Chambers, Chelsea;
- Clarkson, Lola K.;
- Clementi, Maurizio;
- Cortés, Fanny M.;
- Cunningham, Mitch
Publication type:
Article
Combined in vitro and in silico analyses of missense mutations in GNPTAB provide new insights into the molecular bases of mucolipidosis II and III alpha/beta.
Published in:
Human Mutation, 2020, v. 41, n. 1, p. 133, doi. 10.1002/humu.23928
By:
- Danyukova, Tatyana;
- Ludwig, Nataniel F.;
- Velho, Renata V.;
- Harms, Frederike L.;
- Güneş, Nilay;
- Tidow, Henning;
- Schwartz, Ida V.;
- Tüysüz, Beyhan;
- Pohl, Sandra
Publication type:
Article
Next‐generation sequencing for the diagnosis of MYH9‐RD: Predicting pathogenic variants.
Published in:
Human Mutation, 2020, v. 41, n. 1, p. 277, doi. 10.1002/humu.23927
By:
- Bury, Loredana;
- Megy, Karyn;
- Stephens, Jonathan C.;
- Grassi, Luigi;
- Greene, Daniel;
- Gleadall, Nick;
- Althaus, Karina;
- Allsup, David;
- Bariana, Tadbir K.;
- Bonduel, Mariana;
- Butta, Nora V.;
- Collins, Peter;
- Curry, Nicola;
- Deevi, Sri V. V.;
- Downes, Kate;
- Duarte, Daniel;
- Elliott, Kim;
- Falcinelli, Emanuela;
- Furie, Bruce;
- Keeling, David
Publication type:
Article
Variation in nomenclature of somatic variants for selection of oncological therapies: Can we reach a consensus soon?
Published in:
Human Mutation, 2020, v. 41, n. 1, p. 7, doi. 10.1002/humu.23926
By:
- Keppens, Cleo;
- Tack, Véronique;
- Dufraing, Kelly;
- Rouleau, Etienne;
- Ligtenberg, Marjolijn J. L.;
- Schuuring, Ed;
- Dequeker, Elisabeth M. C.
Publication type:
Article
Curating the gnomAD database: Report of novel variants in the globin‐coding genes and bioinformatics analysis.
Published in:
Human Mutation, 2020, v. 41, n. 1, p. 81, doi. 10.1002/humu.23925
By:
- Scheps, Karen G.;
- Hasenahuer, Marcia A.;
- Parisi, Gustavo;
- Targovnik, Héctor M.;
- Fornasari, María S.
Publication type:
Article
Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish.
Published in:
Human Mutation, 2020, v. 41, n. 1, p. 240, doi. 10.1002/humu.23924
By:
- Estrada‐Cuzcano, Alejandro;
- Etard, Christelle;
- Delvallée, Clarisse;
- Stoetzel, Corinne;
- Schaefer, Elise;
- Scheidecker, Sophie;
- Geoffroy, Véronique;
- Schneider, Aline;
- Studer, Fouzia;
- Mattioli, Francesca;
- Chennen, Kirsley;
- Sigaudy, Sabine;
- Plassard, Damien;
- Poch, Olivier;
- Piton, Amélie;
- Strahle, Uwe;
- Muller, Jean;
- Dollfus, Hélène
Publication type:
Article
Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B.
Published in:
Human Mutation, 2020, v. 41, n. 1, p. 265, doi. 10.1002/humu.23921
By:
- Palencia‐Campos, Adrián;
- Martínez‐Fernández, María‐Luisa;
- Altunoglu, Umut;
- Soto‐Bielicka, Patricia;
- Torres, Antonio;
- Marín, Purificación;
- Aller, Elena;
- Şentürk, Leyli;
- Berköz, Ömer;
- Yıldıran, Mehmet;
- Kayserili, Hülya;
- Gil‐Camarero, Elena;
- Colli‐Lista, Gloria;
- Sanchís‐Calvo, Amparo;
- Carretero, Alba;
- Guillén‐Navarro, Encarna;
- López‐González, Vanesa;
- Ballesta‐Martínez, María;
- Rosell, Jordi;
- Aglan, Mona S.
Publication type:
Article
Deep‐intronic variants in CNGB3 cause achromatopsia by pseudoexon activation.
Published in:
Human Mutation, 2020, v. 41, n. 1, p. 255, doi. 10.1002/humu.23920
By:
- Weisschuh, Nicole;
- Sturm, Marc;
- Baumann, Britta;
- Audo, Isabelle;
- Ayuso, Carmen;
- Bocquet, Beatrice;
- Branham, Kari;
- Brooks, Brian P.;
- Catalá‐Mora, Jaume;
- Giorda, Roberto;
- Heckenlively, John R.;
- Hufnagel, Robert B.;
- Jacobson, Samuel G.;
- Kellner, Ulrich;
- Kitsiou‐Tzeli, Sofia;
- Matet, Alexandre;
- Martorell Sampol, Loreto;
- Meunier, Isabelle;
- Rudolph, Günther;
- Sharon, Dror
Publication type:
Article
Minigene splicing assessment of 20 novel synonymous and intronic glucokinase gene variants identified in patients with maturity‐onset diabetes of the young.
Published in:
Human Mutation, 2020, v. 41, n. 1, p. 129, doi. 10.1002/humu.23919
By:
- Tiulpakov, Anatoly;
- Zubkova, Natalia;
- Makretskaya, Nina;
- Krasnova, Tatiana S.;
- Melnikova, Anna I.;
- Fedyaeva, Alena S.;
- Vasilyev, Evgeny;
- Petrov, Vasily M.;
- Rubtsov, Petr M.
Publication type:
Article
SERPING1 mutation update: Mutation spectrum and C1 Inhibitor phenotypes.
Published in:
Human Mutation, 2020, v. 41, n. 1, p. 38, doi. 10.1002/humu.23917
By:
- Ponard, Denise;
- Gaboriaud, Christine;
- Charignon, Delphine;
- Ghannam, Arije;
- Wagenaar‐Bos, Ineke G. A.;
- Roem, Dorina;
- López‐Lera, Alberto;
- López‐Trascasa, Margarita;
- Tosi, Mario;
- Drouet, Christian
Publication type:
Article
Mutation update for the NR5A1 gene involved in DSD and infertility.
Published in:
Human Mutation, 2020, v. 41, n. 1, p. 58, doi. 10.1002/humu.23916
By:
- Fabbri‐Scallet, Helena;
- Sousa, Lizandra Maia;
- Maciel‐Guerra, Andréa Trevas;
- Guerra‐Júnior, Gil;
- Mello, Maricilda Palandi
Publication type:
Article
Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.
Published in:
Human Mutation, 2020, v. 41, n. 1, p. 69, doi. 10.1002/humu.23915
By:
- Bar, Claire;
- Barcia, Giulia;
- Jennesson, Mélanie;
- Le Guyader, Gwenaël;
- Schneider, Amy;
- Mignot, Cyril;
- Lesca, Gaetan;
- Breuillard, Delphine;
- Montomoli, Martino;
- Keren, Boris;
- Doummar, Diane;
- Billette de Villemeur, Thierry;
- Afenjar, Alexandra;
- Marey, Isabelle;
- Gerard, Marion;
- Isnard, Hervé;
- Poisson, Alice;
- Dupont, Sophie;
- Berquin, Patrick;
- Meyer, Pierre
Publication type:
Article
A founder variant in the South Asian population leads to a high prevalence of FANCL Fanconi anemia cases in India.
Published in:
Human Mutation, 2020, v. 41, n. 1, p. 122, doi. 10.1002/humu.23914
By:
- Donovan, Frank X.;
- Solanki, Avani;
- Mori, Minako;
- Chavan, Niranjan;
- George, Merin;
- C, Selvaa Kumar;
- Okuno, Yusuke;
- Muramastsu, Hideki;
- Yoshida, Kenichi;
- Shimamoto, Akira;
- Takaori‐Kondo, Akifumi;
- Yabe, Hiromasa;
- Ogawa, Seishi;
- Kojima, Seiji;
- Yabe, Miharu;
- Ramanagoudr‐Bhojappa, Ramanagouda;
- Smogorzewska, Agata;
- Mohan, Sheila;
- Rajendran, Aruna;
- Auerbach, Arleen D.
Publication type:
Article
Multiplex targeted high‐throughput sequencing in a series of 352 patients with congenital limb malformations.
Published in:
Human Mutation, 2020, v. 41, n. 1, p. 222, doi. 10.1002/humu.23912
By:
- Jourdain, Anne‐Sophie;
- Petit, Florence;
- Odou, Marie‐Françoise;
- Balduyck, Malika;
- Brunelle, Perrine;
- Dufour, William;
- Boussion, Simon;
- Brischoux‐Boucher, Elise;
- Colson, Cindy;
- Dieux, Anne;
- Gérard, Marion;
- Ghoumid, Jamal;
- Giuliano, Fabienne;
- Goldenberg, Alice;
- Khau Van Kien, Philippe;
- Lehalle, Daphné;
- Morin, Gilles;
- Moutton, Sébastien;
- Smol, Thomas;
- Vanlerberghe, Clémence
Publication type:
Article
Chinese newborn screening for the incidence of G6PD deficiency and variant of G6PD gene from 2013 to 2017.
Published in:
Human Mutation, 2020, v. 41, n. 1, p. 212, doi. 10.1002/humu.23911
By:
- Liu, Zhidai;
- Yu, Chaowen;
- Li, Qingge;
- Cai, Ren;
- Qu, Yiping;
- Wang, Weipeng;
- Wang, Jie;
- Feng, Jinwen;
- Zhu, Wenbin;
- Ou, Mingcai;
- Huang, Weitong;
- Tang, Deguo;
- Guo, Wei;
- Liu, Fangjie;
- Chen, Yanhua;
- Fu, Lifang;
- Zhou, Yanxia;
- Lv, Wenqiong;
- Zhang, Hang;
- Zhang, Juan
Publication type:
Article
A substantial proportion of apparently heterozygous TP53 pathogenic variants detected with a next‐generation sequencing hereditary pan‐cancer panel are acquired somatically.
Published in:
Human Mutation, 2020, v. 41, n. 1, p. 203, doi. 10.1002/humu.23910
By:
- Coffee, Bradford;
- Cox, Hannah C.;
- Bernhisel, Ryan;
- Manley, Susan;
- Bowles, Karla;
- Roa, Benjamin B.;
- Mancini‐DiNardo, Debora
Publication type:
Article
Mutations in RPSA and NKX2‐3 link development of the spleen and intestinal vasculature.
Published in:
Human Mutation, 2020, v. 41, n. 1, p. 196, doi. 10.1002/humu.23909
By:
- Kerkhofs, Chantal;
- Stevens, Servi J. C.;
- Faust, Saul N.;
- Rae, William;
- Williams, Anthony P.;
- Wurm, Peter;
- Østern, Rune;
- Fockens, Paul;
- Würfel, Christiane;
- Laass, Martin;
- Kokke, Freddy;
- Stegmann, Alexander P. A.;
- Brunner, Han G.
Publication type:
Article
TBX6 missense variants expand the mutational spectrum in a non‐Mendelian inheritance disease.
Published in:
Human Mutation, 2020, v. 41, n. 1, p. 182, doi. 10.1002/humu.23907
By:
- Chen, Weisheng;
- Lin, Jiachen;
- Wang, Lianlei;
- Li, Xiaoxin;
- Zhao, Sen;
- Liu, Jiaqi;
- Akdemir, Zeynep C.;
- Zhao, Yanxue;
- Du, Renqian;
- Ye, Yongyu;
- Song, Xiaofei;
- Zhang, Yuanqiang;
- Yan, Zihui;
- Yang, Xinzhuang;
- Lin, Mao;
- Shen, Jianxiong;
- Wang, Shengru;
- Gao, Na;
- Yang, Ying;
- Liu, Ying
Publication type:
Article
Fumarate hydratase FH c.1431_1433dupAAA (p.Lys477dup) variant is not associated with cancer including renal cell carcinoma.
Published in:
Human Mutation, 2020, v. 41, n. 1, p. 103, doi. 10.1002/humu.23900
By:
- Zhang, Liying;
- Walsh, Michael F.;
- Jairam, Sowmya;
- Mandelker, Diana;
- Zhong, Yi;
- Kemel, Yelena;
- Chen, Ying‐Bei;
- Musheyev, David;
- Zehir, Ahmet;
- Jayakumaran, Gowtham;
- Brzostowski, Edyta;
- Birsoy, Ozge;
- Yang, Ciyu;
- Li, Yirong;
- Somar, Joshua;
- DeLair, Deborah;
- Pradhan, Nisha;
- Berger, Michael F.;
- Cadoo, Karen;
- Carlo, Maria I.
Publication type:
Article
Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation.
Published in:
Human Mutation, 2020, v. 41, n. 1, p. 17, doi. 10.1002/humu.23899
By:
- Morin, Gilles;
- Biancalana, Valérie;
- Echaniz‐Laguna, Andoni;
- Noury, Jean‐Baptiste;
- Lornage, Xavière;
- Moggio, Maurizio;
- Ripolone, Michela;
- Violano, Raffaella;
- Marcorelles, Pascale;
- Maréchal, Denis;
- Renaud, Florence;
- Maurage, Claude‐Alain;
- Tard, Céline;
- Cuisset, Jean‐Marie;
- Laporte, Jocelyn;
- Böhm, Johann
Publication type:
Article
Issue Information.
Published in:
Human Mutation, 2020, v. 41, n. 1, p. 1, doi. 10.1002/humu.23805
Publication type:
Article
Sequencing‐based microsatellite instability testing using as few as six markers for high‐throughput clinical diagnostics.
Published in:
Human Mutation, 2020, v. 41, n. 1, p. 332, doi. 10.1002/humu.23906
By:
- Gallon, Richard;
- Sheth, Harsh;
- Hayes, Christine;
- Redford, Lisa;
- Alhilal, Ghanim;
- O'Brien, Ottilia;
- Spiewak, Helena;
- Waltham, Amanda;
- McAnulty, Ciaron;
- Izuogu, Osagie G.;
- Arends, Mark J.;
- Oniscu, Anca;
- Alonso, Angel M.;
- Laguna, Sira M.;
- Borthwick, Gillian M.;
- Santibanez‐Koref, Mauro;
- Jackson, Michael S.;
- Burn, John
Publication type:
Article
CRAT missense variants cause abnormal carnitine acetyltransferase function in an early‐onset case of Leigh syndrome.
Published in:
Human Mutation, 2020, v. 41, n. 1, p. 110, doi. 10.1002/humu.23901
By:
- Laera, Luna;
- Punzi, Giuseppe;
- Porcelli, Vito;
- Gambacorta, Nicola;
- Trisolini, Lucia;
- Pierri, Ciro L.;
- De Grassi, Anna
Publication type:
Article
Primary ciliary dyskinesia gene contribution in Tunisia: Identification of a major Mediterranean allele.
Published in:
Human Mutation, 2020, v. 41, n. 1, p. 115, doi. 10.1002/humu.23905
By:
- Mani, Rahma;
- Belkacem, Sabrina;
- Soua, Zohra;
- Chantot, Sandra;
- Montantin, Guy;
- Tissier, Sylvie;
- Copin, Bruno;
- Bouguila, Jihene;
- Rive Le Gouard, Nicolas;
- Boughamoura, Lamia;
- Ben Ameur, Salma;
- Hachicha, Mongia;
- Boussoffara, Raoudha;
- Boussetta, Khadija;
- Hammouda, Samia;
- Bedoui, Abir;
- Besbes, Habib;
- Meddeb, Seif;
- Chraeit, Karima;
- Khlifa, Monia
Publication type:
Article
A rare heterozygous TREM2 coding variant identified in familial clustering of dementia affects an intrinsically disordered protein region and function of TREM2.
Published in:
Human Mutation, 2020, v. 41, n. 1, p. 169, doi. 10.1002/humu.23904
By:
- Karsak, Meliha;
- Glebov, Konstantin;
- Scheffold, Marina;
- Bajaj, Thomas;
- Kawalia, Amit;
- Karaca, Ilker;
- Rading, Sebastian;
- Kornhuber, Johannes;
- Peters, Oliver;
- Diez‐Fairen, Monica;
- Frölich, Lutz;
- Hüll, Michael;
- Wiltfang, Jens;
- Scherer, Martin;
- Riedel‐Heller, Steffi;
- Schneider, Anja;
- Heneka, Michael T.;
- Fliessbach, Klaus;
- Sharaf, Ahmed;
- Thiele, Holger
Publication type:
Article
A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC).
Published in:
Human Mutation, 2020, v. 41, n. 1, p. 140, doi. 10.1002/humu.23903
By:
- Sharon, Dror;
- Ben‐Yosef, Tamar;
- Goldenberg‐Cohen, Nitza;
- Pras, Eran;
- Gradstein, Libe;
- Soudry, Shiri;
- Mezer, Eedy;
- Zur, Dinah;
- Abbasi, Anan H.;
- Zeitz, Christina;
- Cremers, Frans P. M.;
- Khan, Muhammad I.;
- Levy, Jaime;
- Rotenstreich, Ygal;
- Birk, Ohad S.;
- Ehrenberg, Miriam;
- Leibu, Rina;
- Newman, Hadas;
- Shomron, Noam;
- Banin, Eyal
Publication type:
Article
Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome.
Published in:
Human Mutation, 2020, v. 41, n. 1, p. 150, doi. 10.1002/humu.23902
By:
- Hijazi, Hadia;
- Coelho, Fernanda S.;
- Gonzaga‐Jauregui, Claudia;
- Bernardini, Laura;
- Mar, Soe S.;
- Manning, Melanie A.;
- Hanson‐Kahn, Andrea;
- Naidu, SakkuBai;
- Srivastava, Siddharth;
- Lee, Jennifer A.;
- Jones, Julie R.;
- Friez, Michael J.;
- Alberico, Thomas;
- Torres, Barbara;
- Fang, Ping;
- Cheung, Sau Wai;
- Song, Xiaofei;
- Davis‐Williams, Angelique;
- Jornlin, Carly;
- Wight, Patricia A.
Publication type:
Article