Works matching IS 10597794 AND DT 2019 AND VI 40 AND IP 12

Results: 25

Back Cover, Volume 40, Issue 12.

Published in:

Human Mutation, 2019, v. 40, n. 12, p. iii, doi. 10.1002/humu.23956

By:

Gilbert, Melissa A.;
Bauer, Robert C.;
Rajagopalan, Ramakrishnan;
Grochowski, Christopher M.;
Chao, Grace;
McEldrew, Deborah;
Nassur, James A.;
Rand, Elizabeth B.;
Krock, Bryan L.;
Kamath, Binita M.;
Krantz, Ian D.;
Piccoli, David A.;
Loomes, Kathleen M.;
Spinner, Nancy B.

Publication type:

Article

Inside Back Cover, Volume 40, Issue 12.

Published in:

Human Mutation, 2019, v. 40, n. 12, p. ii, doi. 10.1002/humu.23958

By:

Wert, Katherine J.;
Koch, Susanne F.;
Velez, Gabriel;
Hsu, Chun‐Wei;
Mahajan, MaryAnn;
Bassuk, Alexander G.;
Tsang, Stephen H.;
Mahajan, Vinit B.

Publication type:

Article

Front Cover, Volume 40, Issue 12.

Published in:

Human Mutation, 2019, v. 40, n. 12, p. i, doi. 10.1002/humu.23957

By:

Krishnaraj, Rahul;
Haase, Florencia;
Coorey, Bronte;
Luca, Edward J;
Wong, Ingar;
Boyling, Alexandra;
Ellaway, Carolyn;
Christodoulou, John;
Gold, Wendy A.

Publication type:

Article

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

Published in:

Human Mutation, 2019, v. 40, n. 12, p. 2444, doi. 10.1002/humu.23913

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

De novo GRIN variants in NMDA receptor M2 channel pore‐forming loop are associated with neurological diseases.

Published in:

Human Mutation, 2019, v. 40, n. 12, p. 2393, doi. 10.1002/humu.23895

By:

Li, Jia;
Zhang, Jin;
Tang, Weiting;
Mizu, Ruth K.;
Kusumoto, Hirofumi;
XiangWei, Wenshu;
Xu, Yuchen;
Chen, Wenjuan;
Amin, Johansen B.;
Hu, Chun;
Kannan, Varun;
Keller, Stephanie R.;
Wilcox, William R.;
Lemke, Johannes R.;
Myers, Scott J.;
Swanger, Sharon A.;
Wollmuth, Lonnie P.;
Petrovski, Slavé;
Traynelis, Stephen F.;
Yuan, Hongjie

Publication type:

Article

CAPN5 genetic inactivation phenotype supports therapeutic inhibition trials.

Published in:

Human Mutation, 2019, v. 40, n. 12, p. 2377, doi. 10.1002/humu.23894

By:

Wert, Katherine J.;
Koch, Susanne F.;
Velez, Gabriel;
Hsu, Chun‐Wei;
Mahajan, MaryAnn;
Bassuk, Alexander G.;
Tsang, Stephen H.;
Mahajan, Vinit B.

Publication type:

Article

Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss.

Published in:

Human Mutation, 2019, v. 40, n. 12, p. 2286, doi. 10.1002/humu.23891

By:

Morgan, Anna;
Koboldt, Daniel C.;
Barrie, Elizabeth S.;
Crist, Erin R.;
García García, Gema;
Mezzavilla, Massimo;
Faletra, Flavio;
Mihalic Mosher, Theresa;
Wilson, Richard K.;
Blanchet, Catherine;
Manickam, Kandamurugu;
Roux, Anne‐Francoise;
Gasparini, Paolo;
Dell'Orco, Daniele;
Girotto, Giorgia

Publication type:

Article

Identification of splice defects due to noncanonical splice site or deep‐intronic variants in ABCA4.

Published in:

Human Mutation, 2019, v. 40, n. 12, p. 2365, doi. 10.1002/humu.23890

By:

Fadaie, Zeinab;
Khan, Mubeen;
Del Pozo‐Valero, Marta;
Cornelis, Stéphanie S.;
Ayuso, Carmen;
Cremers, Frans P. M.;
Roosing, Susanne;
The ABCA4 study group

Publication type:

Article

Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4.

Published in:

Human Mutation, 2019, v. 40, n. 12, p. 2318, doi. 10.1002/humu.23883

By:

Ballin, Nadja;
Hotz, Alrun;
Bourrat, Emmanuelle;
Küsel, Julia;
Oji, Vinzenz;
Bouadjar, Bakar;
Brognoli, Davide;
Hickman, Geoffroy;
Heinz, Lisa;
Vabres, Pierre;
Marrakchi, Slaheddine;
Leclerc‐Mercier, Stéphanie;
Irvine, Alan;
Tadini, Gianluca;
Hamm, Henning;
Has, Cristina;
Blume‐Peytavi, Ulrike;
Mitter, Diana;
Reitenbach, Marina;
Hausser, Ingrid

Publication type:

Article

From incomplete penetrance with normal telomere length to severe disease and telomere shortening in a family with monoallelic and biallelic PARN pathogenic variants.

Published in:

Human Mutation, 2019, v. 40, n. 12, p. 2414, doi. 10.1002/humu.23898

By:

Dodson, Lois M.;
Baldan, Alessandro;
Nissbeck, Mikael;
Gunja, Sethu M. R.;
Bonnen, Penelope E.;
Aubert, Geraldine;
Birchansky, Sherri;
Virtanen, Anders;
Bertuch, Alison A.

Publication type:

Article

Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data.

Published in:

Human Mutation, 2019, v. 40, n. 12, p. 2230, doi. 10.1002/humu.23896

By:

Fokkema, Ivo F. A. C.;
Velde, Kasper J.;
Slofstra, Mariska K.;
Ruivenkamp, Claudia A. L.;
Vogel, Maartje J.;
Pfundt, Rolph;
Blok, Marinus J.;
Lekanne Deprez, Ronald H.;
Waisfisz, Quinten;
Abbott, Kristin M.;
Sinke, Richard J.;
Rahman, Rubayte;
Nijman, Isaäc J.;
Koning, Bart;
Thijs, Gert;
Wieskamp, Nienke;
Moritz, Ruben J. G.;
Charbon, Bart;
Saris, Jasper J.;
den Dunnen, Johan T.

Publication type:

Article

Expression and functional characterization of missense mutations in ATP8A2 linked to severe neurological disorders.

Published in:

Human Mutation, 2019, v. 40, n. 12, p. 2353, doi. 10.1002/humu.23889

By:

Choi, Hanbin;
Andersen, Jens P.;
Molday, Robert S.

Publication type:

Article

Genome‐wide transcriptomic and proteomic studies of Rett syndrome mouse models identify common signaling pathways and cellular functions as potential therapeutic targets.

Published in:

Human Mutation, 2019, v. 40, n. 12, p. 2184, doi. 10.1002/humu.23887

By:

Krishnaraj, Rahul;
Haase, Florencia;
Coorey, Bronte;
Luca, Edward J;
Wong, Ingar;
Boyling, Alexandra;
Ellaway, Carolyn;
Christodoulou, John;
Gold, Wendy A.

Publication type:

Article

ATP1A1 mutations cause intermediate Charcot‐Marie‐Tooth disease.

Published in:

Human Mutation, 2019, v. 40, n. 12, p. 2334, doi. 10.1002/humu.23886

By:

He, Jin;
Guo, Lingling;
Lin, Shan;
Chen, Wenfeng;
Xu, Guorong;
Cai, Bin;
Xu, Liuqing;
Hong, Jingmei;
Qiu, Liangliang;
Wang, Ning;
Chen, Wanjin

Publication type:

Article

Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light.

Published in:

Human Mutation, 2019, v. 40, n. 12, p. 2430, doi. 10.1002/humu.23885

By:

Garret, Philippine;
Bris, Céline;
Procaccio, Vincent;
Amati‐Bonneau, Patrizia;
Vabres, Pierre;
Houcinat, Nada;
Tisserant, Emilie;
Feillet, François;
Bruel, Ange‐Line;
Quéré, Virginie;
Philippe, Christophe;
Sorlin, Arthur;
Tran Mau‐Them, Frédéric;
Vitobello, Antonio;
Costa, Jean‐Marc;
Boughalem, Aïcha;
Trost, Detlef;
Faivre, Laurence;
Thauvin‐Robinet, Christel;
Duffourd, Yannis

Publication type:

Article

Pitfalls in the interpretation of CFTR variants in the context of incidental findings.

Published in:

Human Mutation, 2019, v. 40, n. 12, p. 2239, doi. 10.1002/humu.23884

By:

Boussaroque, Agathe;
Bergougnoux, Anne;
Raynal, Caroline;
Audrézet, Marie‐Pierre;
Sasorith, Souphatta;
Férec, Claude;
Bienvenu, Thierry;
Girodon, Emmanuelle

Publication type:

Article

Dominant‐negative SOX9 mutations in campomelic dysplasia.

Published in:

Human Mutation, 2019, v. 40, n. 12, p. 2344, doi. 10.1002/humu.23888

By:

Csukasi, Fabiana;
Duran, Ivan;
Zhang, Wenjuan;
Martin, Jorge H.;
Barad, Maya;
Bamshad, Michael;
Weis, Mary Ann;
Eyre, David;
Krakow, Deborah;
Cohn, Daniel H.

Publication type:

Article

Incorporation of semi‐quantitative analysis of splicing alterations for the clinical interpretation of variants in BRCA1 and BRCA2 genes.

Published in:

Human Mutation, 2019, v. 40, n. 12, p. 2296, doi. 10.1002/humu.23882

By:

Montalban, Gemma;
Bonache, Sandra;
Moles‐Fernández, Alejandro;
Gadea, Neus;
Tenés, Anna;
Torres‐Esquius, Sara;
Carrasco, Estela;
Balmaña, Judith;
Diez, Orland;
Gutiérrez‐Enríquez, Sara

Publication type:

Article

Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification.

Published in:

Human Mutation, 2019, v. 40, n. 12, p. 2197, doi. 10.1002/humu.23879

By:

Gilbert, Melissa A.;
Bauer, Robert C.;
Rajagopalan, Ramakrishnan;
Grochowski, Christopher M.;
Chao, Grace;
McEldrew, Deborah;
Nassur, James A.;
Rand, Elizabeth B.;
Krock, Bryan L.;
Kamath, Binita M.;
Krantz, Ian D.;
Piccoli, David A.;
Loomes, Kathleen M.;
Spinner, Nancy B.

Publication type:

Article

Deleterious de novo variants of X‐linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita.

Published in:

Human Mutation, 2019, v. 40, n. 12, p. 2270, doi. 10.1002/humu.23841

By:

Frints, Suzanna G.M.;
Hennig, Friederike;
Colombo, Roberto;
Jacquemont, Sebastien;
Terhal, Paulien;
Zimmerman, Holly H.;
Hunt, David;
Mendelsohn, Bryce A.;
Kordaß, Ulrike;
Webster, Richard;
Sinnema, Margje;
Abdul‐Rahman, Omar;
Suckow, Vanessa;
Fernández‐Jaén, Alberto;
Roozendaal, Kees;
Stevens, Servi J.C.;
Macville, Merryn V.E.;
Al‐Nasiry, Salwan;
Gassen, Koen;
Utzig, Norbert

Publication type:

Article

LOVD–DASH: A comprehensive LOVD database coupled with diagnosis and an at‐risk assessment system for hemoglobinopathies.

Published in:

Human Mutation, 2019, v. 40, n. 12, p. 2221, doi. 10.1002/humu.23863

By:

Zhang, Li;
Zhang, Qianqian;
Tang, Yaohua;
Cong, Peikuan;
Ye, Yuhua;
Chen, Shiping;
Zhang, Xinhua;
Chen, Yan;
Zhu, Baosheng;
Cai, Wangwei;
Chen, Shaoke;
Cai, Ren;
Guo, Xiaoling;
Zhang, Chonglin;
Zhou, Yuqiu;
Zou, Jie;
Liu, Yanhui;
Chen, Biyan;
Yan, Shanhuo;
Chen, Yajun

Publication type:

Article

Novel ACTN1 variants in cases of thrombocytopenia.

Published in:

Human Mutation, 2019, v. 40, n. 12, p. 2258, doi. 10.1002/humu.23840

By:

Vincenot, Anne;
Saultier, Paul;
Kunishima, Shinji;
Poggi, Marjorie;
Hurtaud‐Roux, Marie‐Françoise;
Roussel, Alain;
ACTN1 study coinvestigators;
Schlegel, Nicole;
Alessi, Marie‐Christine

Publication type:

Article

Novel missense mutation in VPS33B is associated with isolated low gamma‐glutamyltransferase cholestasis: Attenuated, incomplete phenotype of arthrogryposis, renal dysfunction, and cholestasis syndrome.

Published in:

Human Mutation, 2019, v. 40, n. 12, p. 2247, doi. 10.1002/humu.23770

By:

Qiu, Yi‐Ling;
Liu, Teng;
Abuduxikuer, Kuerbanjiang;
Hao, Chen‐Zhi;
Gong, Jing‐Yu;
Zhang, Mei‐Hong;
Li, Li‐Ting;
Yan, Yan‐Yan;
Li, Jia‐Qi;
Wang, Jian‐She

Publication type:

Article

Single‐nucleotide editing: From principle, optimization to application.

Published in:

Human Mutation, 2019, v. 40, n. 12, p. 2171, doi. 10.1002/humu.23819

By:

Tang, Jinling;
Lee, Trevor;
Sun, Tao

Publication type:

Article

Issue Information.

Published in:: Human Mutation, 2019, v. 40, n. 12, p. 2167, doi. 10.1002/humu.23579
Publication type:: Article