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

Results: 31

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

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

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

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

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

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

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

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

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

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 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

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

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

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

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

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

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

Issue Information.

Published in:: Human Mutation, 2020, v. 41, n. 1, p. 1, doi. 10.1002/humu.23805
Publication type:: Article