Works matching IS 10597794 AND DT 2019 AND VI 40 AND IP 5

Results: 15

Cover Image, Volume 40, Issue 5.
Published in:
Human Mutation, 2019, v. 40, n. 5, p. i, doi. 10.1002/humu.23761
By:
- Li, Xiaojin;
- Zhang, Wei;
- Zhou, Donghu;
- Lv, Tingxia;
- Xu, Anjian;
- Wang, Hejing;
- Zhao, Xinyan;
- Zhang, Bei;
- Li, Yanmeng;
- Jia, Siyu;
- Wang, Yu;
- Wang, Xiaoming;
- Wu, Zhen;
- Duan, Weijia;
- Wang, Qianyi;
- Nan, Yuemin;
- Shang, Jia;
- Jiang, Wei;
- Chen, Yongpeng;
- Zheng, Sujun
Publication type:
Article
RECQL5: Another DNA helicase potentially involved in hereditary breast cancer susceptibility.
Published in:
Human Mutation, 2019, v. 40, n. 5, p. 566, doi. 10.1002/humu.23732
By:
- Tavera‐Tapia, Alejandra;
- Hoya, Miguel;
- Calvete, Oriol;
- Martin‐Gimeno, Paloma;
- Fernández, Victoria;
- Macías, José Antonio;
- Alonso, Beatriz;
- Pombo, Luz;
- Diego, Carles;
- Alonso, Rosario;
- Pita, Guillermo;
- Barroso, Alicia;
- Urioste, Miguel;
- Caldés, Trinidad;
- Newman, Joseph A.;
- Benítez, Javier;
- Osorio, Ana
Publication type:
Article
Clinical‐genetic features and peculiar muscle histopathology in infantile DNM1L‐related mitochondrial epileptic encephalopathy.
Published in:
Human Mutation, 2019, v. 40, n. 5, p. 601, doi. 10.1002/humu.23729
By:
- Verrigni, Daniela;
- Di Nottia, Michela;
- Ardissone, Anna;
- Baruffini, Enrico;
- Nasca, Alessia;
- Legati, Andrea;
- Bellacchio, Emanuele;
- Fagiolari, Gigliola;
- Martinelli, Diego;
- Fusco, Lucia;
- Battaglia, Domenica;
- Trani, Giulia;
- Versienti, Gianmarco;
- Marchet, Silvia;
- Torraco, Alessandra;
- Rizza, Teresa;
- Verardo, Margherita;
- D'Amico, Adele;
- Diodato, Daria;
- Moroni, Isabella
Publication type:
Article
Functional characterization of CHEK2 variants in a Saccharomyces cerevisiae system.
Published in:
Human Mutation, 2019, v. 40, n. 5, p. 631, doi. 10.1002/humu.23728
By:
- Delimitsou, Angeliki;
- Fostira, Florentia;
- Kalfakakou, Despoina;
- Apostolou, Paraskevi;
- Konstantopoulou, Irene;
- Kroupis, Christos;
- Papavassiliou, Athanasios G.;
- Kleibl, Zdenek;
- Stratikos, Efstratios;
- Voutsinas, Gerassimos E.;
- Yannoukakos, Drakoulis
Publication type:
Article
MT‐ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases.
Published in:
Human Mutation, 2019, v. 40, n. 5, p. 499, doi. 10.1002/humu.23723
By:
- Ganetzky, Rebecca D.;
- Stendel, Claudia;
- McCormick, Elizabeth M.;
- Zolkipli‐Cunningham, Zarazuela;
- Goldstein, Amy C.;
- Klopstock, Thomas;
- Falk, Marni J.
Publication type:
Article
Kilquist syndrome: A novel syndromic hearing loss disorder caused by homozygous deletion of SLC12A2.
Published in:
Human Mutation, 2019, v. 40, n. 5, p. 532, doi. 10.1002/humu.23722
By:
- Macnamara, Ellen F.;
- Koehler, Alanna E.;
- D'Souza, Precilla;
- Estwick, Tyra;
- Lee, Paul;
- Vezina, Gilbert;
- Fauni, Harper;
- Braddock, Stephen R.;
- Torti, Erin;
- Holt, James Matthew;
- Sharma, Prashant;
- Malicdan, May Christine V.;
- Tifft, Cynthia J.
Publication type:
Article
A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes.
Published in:
Human Mutation, 2019, v. 40, n. 5, p. 649, doi. 10.1002/humu.23721
By:
- Gallon, Richard;
- Mühlegger, Barbara;
- Wenzel, Sören‐Sebastian;
- Sheth, Harsh;
- Hayes, Christine;
- Aretz, Stefan;
- Dahan, Karin;
- Foulkes, William;
- Kratz, Christian P.;
- Ripperger, Tim;
- Azizi, Amedeo A.;
- Baris Feldman, Hagit;
- Chong, Anne‐Laure;
- Demirsoy, Ugur;
- Florkin, Benoît;
- Imschweiler, Thomas;
- Januszkiewicz‐Lewandowska, Danuta;
- Lobitz, Stephan;
- Nathrath, Michaela;
- Pander, Hans‐Jürgen
Publication type:
Article
Cerebral hypomyelination associated with biallelic variants of FIG4.
Published in:
Human Mutation, 2019, v. 40, n. 5, p. 619, doi. 10.1002/humu.23720
By:
- Lenk, Guy M.;
- Berry, Ian R.;
- Stutterd, Chloe A.;
- Blyth, Moira;
- Green, Lydia;
- Vadlamani, Gayatri;
- Warren, Daniel;
- Craven, Ian;
- Fanjul‐Fernandez, Miriam;
- Rodriguez‐Casero, Victoria;
- Lockhart, Paul J.;
- Vanderver, Adeline;
- Simons, Cas;
- Gibb, Susan;
- Sadedin, Simon;
- White, Susan M.;
- Christodoulou, John;
- Skibina, Olga;
- Ruddle, Jonathan;
- Tan, Tiong Y.
Publication type:
Article
Clarification of glycosylphosphatidylinositol anchorage of OTOANCORIN and human OTOA variants associated with deafness.
Published in:
Human Mutation, 2019, v. 40, n. 5, p. 525, doi. 10.1002/humu.23719
By:
- Kim, Bong Jik;
- Kim, Dong‐Kyu;
- Han, Jin Hee;
- Oh, Jayoung;
- Kim, Ah Reum;
- Lee, Chung;
- Kim, Nayoung KD;
- Park, Hye‐Rim;
- Kim, Min Young;
- Lee, Sejoon;
- Lee, Seungmin;
- Oh, Doo Yi;
- Park, Woong‐Yang;
- Park, Sungjin;
- Choi, Byung Yoon
Publication type:
Article
Genotypic and phenotypic characterization of Chinese patients with osteogenesis imperfecta.
Published in:
Human Mutation, 2019, v. 40, n. 5, p. 588, doi. 10.1002/humu.23718
By:
- Li, Lulu;
- Mao, Bin;
- Li, Shan;
- Xiao, Jifang;
- Wang, Han;
- Zhang, Jing;
- Ren, Xiuzhi;
- Wang, Yanzhou;
- Wu, Yiyang;
- Cao, Yixuan;
- Lu, Chaoxia;
- Gao, Jinsong;
- You, Yi;
- Zhao, Feiyue;
- Geng, Xingzhu;
- Xiao, Yaxiong;
- Jiang, Chendan;
- Ye, Yuqian;
- Yang, Tao;
- Zhao, Xiuli
Publication type:
Article
High prevalence of cancer‐associated TP53 variants in the gnomAD database: A word of caution concerning the use of variant filtering.
Published in:
Human Mutation, 2019, v. 40, n. 5, p. 516, doi. 10.1002/humu.23717
By:
- Soussi, Thierry;
- Leroy, Bernard;
- Devir, Michal;
- Rosenberg, Shai
Publication type:
Article
Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy.
Published in:
Human Mutation, 2019, v. 40, n. 5, p. 578, doi. 10.1002/humu.23715
By:
- Silva, Raquel S.;
- Arno, Gavin;
- Cipriani, Valentina;
- Pontikos, Nikolas;
- Defoort‐Dhellemmes, Sabine;
- Kalhoro, Ambreen;
- Carss, Keren J.;
- Raymond, F. Lucy;
- Dhaenens, Claire Marie;
- Jensen, Hanne;
- Rosenberg, Thomas;
- Heyningen, Veronica;
- Moore, Anthony T.;
- Puech, Bernard;
- Webster, Andrew R.
Publication type:
Article
Complex ATP7B mutation patterns in Wilson disease and evaluation of a yeast model for functional analysis of variants.
Published in:
Human Mutation, 2019, v. 40, n. 5, p. 552, doi. 10.1002/humu.23714
By:
- Li, Xiaojin;
- Zhang, Wei;
- Zhou, Donghu;
- Lv, Tingxia;
- Xu, Anjian;
- Wang, Hejing;
- Zhao, Xinyan;
- Zhang, Bei;
- Li, Yanmeng;
- Jia, Siyu;
- Wang, Yu;
- Wang, Xiaoming;
- Wu, Zhen;
- Duan, Weijia;
- Wang, Qianyi;
- Nan, Yuemin;
- Shang, Jia;
- Jiang, Wei;
- Chen, Yongpeng;
- Zheng, Sujun
Publication type:
Article
The N‐terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond.
Published in:
Human Mutation, 2019, v. 40, n. 5, p. 539, doi. 10.1002/humu.23713
By:
- Naessens, Sarah;
- Zaeytijd, Julie;
- Syx, Delfien;
- Vandenbroucke, Roosmarijn E.;
- Smeets, Frédéric;
- Cauwenbergh, Caroline;
- Leroy, Bart P.;
- Peelman, Frank;
- Coppieters, Frauke
Publication type:
Article
Issue Information.
Published in:
Human Mutation, 2019, v. 40, n. 5, p. 497, doi. 10.1002/humu.23572
Publication type:
Article