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Issue Information.
Published in:
Human Mutation, 2019, v. 40, n. 12, p. 2167, doi. 10.1002/humu.23579
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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

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