Works matching IS 10597794 AND DT 2017 AND VI 38 AND IP 8

Results: 20

Pathophysiologic effects of CHCHD2 variants associated with late-onset Parkinson disease.

Published in:

2017

By:

Kim, Jong‐Min

Publication type:

Other

Issue Information.

Published in:: Human Mutation, 2017, v. 38, n. 8, p. 899, doi. 10.1002/humu.23097
Publication type:: Article

Cover Image, Volume 38, Issue 8.

Published in:

Human Mutation, 2017, v. 38, n. 8, p. i, doi. 10.1002/humu.23284

By:

Dou, Yanmei;
Yang, Xiaoxu;
Li, Ziyi;
Wang, Sheng;
Zhang, Zheng;
Ye, Adam Yongxin;
Yan, Linlin;
Yang, Changhong;
Wu, Qixi;
Li, Jiarui;
Zhao, Boxun;
Huang, August Yue;
Wei, Liping

Publication type:

Article

Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations.

Published in:

Human Mutation, 2017, v. 38, n. 8, p. 1002, doi. 10.1002/humu.23255

By:

Dou, Yanmei;
Yang, Xiaoxu;
Li, Ziyi;
Wang, Sheng;
Zhang, Zheng;
Ye, Adam Yongxin;
Yan, Linlin;
Yang, Changhong;
Wu, Qixi;
Li, Jiarui;
Zhao, Boxun;
Huang, August Yue;
Wei, Liping

Publication type:

Article

Protein destabilization and loss of protein-protein interaction are fundamental mechanisms in cblA-type methylmalonic aciduria.

Published in:

Human Mutation, 2017, v. 38, n. 8, p. 988, doi. 10.1002/humu.23251

By:

Plessl, Tanja;
Bürer, Céline;
Lutz, Seraina;
Yue, Wyatt W.;
Baumgartner, Matthias R.;
Froese, D. Sean

Publication type:

Article

De novo IGF2 mutation on the paternal allele in a patient with Silver-Russell syndrome and ectrodactyly.

Published in:

Human Mutation, 2017, v. 38, n. 8, p. 953, doi. 10.1002/humu.23253

By:

Yamoto, Kaori;
Saitsu, Hirotomo;
Nakagawa, Norio;
Nakajima, Hisakazu;
Hasegawa, Tatsuji;
Fujisawa, Yasuko;
Kagami, Masayo;
Fukami, Maki;
Ogata, Tsutomu

Publication type:

Article

No significant enrichment of rare functionally defective CPA1 variants in a large Chinese idiopathic chronic pancreatitis cohort.

Published in:

Human Mutation, 2017, v. 38, n. 8, p. 959, doi. 10.1002/humu.23254

By:

Wu, Hao;
Zhou, Dai‐Zhan;
Berki, Dorottya;
Geisz, Andrea;
Zou, Wen‐Bin;
Sun, Xiao‐Tian;
Hu, Liang‐Hao;
Zhao, Zhen‐Hua;
Zhao, An‐Jing;
He, Lin;
Cooper, David N.;
Férec, Claude;
Chen, Jian‐Min;
Li, Zhao‐Shen;
Sahin‐Tóth, Miklós;
Liao, Zhuan

Publication type:

Article

Identification of a functional enhancer variant within the chronic pancreatitis-associated SPINK1 c.101A>G (p.Asn34Ser)-containing haplotype.

Published in:

Human Mutation, 2017, v. 38, n. 8, p. 1014, doi. 10.1002/humu.23269

By:

Boulling, Arnaud;
Masson, Emmanuelle;
Zou, Wen‐Bin;
Paliwal, Sumit;
Wu, Hao;
Issarapu, Prachand;
Bhaskar, Seema;
Génin, Emmanuelle;
Cooper, David N.;
Li, Zhao‐Shen;
Chandak, Giriraj R;
Liao, Zhuan;
Chen, Jian‐Min;
Férec, Claude

Publication type:

Article

Reporting practices for unsolicited and secondary findings from next-generation sequencing technologies: Perspectives of laboratory personnel.

Published in:

Human Mutation, 2017, v. 38, n. 8, p. 905, doi. 10.1002/humu.23259

By:

Vears, Danya F;
Sénécal, Karine;
Borry, Pascal

Publication type:

Article

CSNK2B splice site mutations in patients cause intellectual disability with or without myoclonic epilepsy.

Published in:

Human Mutation, 2017, v. 38, n. 8, p. 932, doi. 10.1002/humu.23270

By:

Poirier, Karine;
Hubert, Laurence;
Viot, Géraldine;
Rio, Marlène;
Billuart, Pierre;
Besmond, Claude;
Bienvenu, Thierry

Publication type:

Article

Postzygotic single nucleotide mosaicisms and autism risk.

Published in:

2017

By:

Gottlieb, Bruce

Publication type:

Other

A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma.

Published in:

Human Mutation, 2017, v. 38, n. 8, p. 942, doi. 10.1002/humu.23246

By:

Rainger, Joe;
Williamson, Kathleen A;
Soares, Dinesh C;
Truch, Julia;
Kurian, Dominic;
Gillessen‐Kaesbach, Gabriele;
Seawright, Anne;
Prendergast, James;
Halachev, Mihail;
Wheeler, Ann;
McTeir, Lynn;
Gill, Andrew C;
Heyningen, Veronica;
Davey, Megan G;
FitzPatrick, David R

Publication type:

Article

Haplotype reference consortium panel: Practical implications of imputations with large reference panels.

Published in:

Human Mutation, 2017, v. 38, n. 8, p. 1025, doi. 10.1002/humu.23247

By:

Iglesias, Adriana I.;
der Lee, Sven J.;
Bonnemaijer, Pieter W.M.;
Höhn, René;
Nag, Abhishek;
Gharahkhani, Puya;
Khawaja, Anthony P.;
Broer, Linda;
Foster, Paul J.;
Hammond, Christopher J.;
Hysi, Pirro G.;
Leeuwen, Elisabeth M.;
MacGregor, Stuart;
Mackey, David A.;
Mazur, Johanna;
Nickels, Stefan;
Uitterlinden, André G.;
Klaver, Caroline C.W.;
Amin, Najaf;
Duijn, Cornelia M.

Publication type:

Article

The novel αB-crystallin ( CRYAB) mutation p.D109G causes restrictive cardiomyopathy.

Published in:

Human Mutation, 2017, v. 38, n. 8, p. 947, doi. 10.1002/humu.23248

By:

Brodehl, Andreas;
Gaertner‐Rommel, Anna;
Klauke, Bärbel;
Grewe, Simon Andre;
Schirmer, Ilona;
Peterschröder, Andreas;
Faber, Lothar;
Vorgerd, Matthias;
Gummert, Jan;
Anselmetti, Dario;
Schulz, Uwe;
Paluszkiewicz, Lech;
Milting, Hendrik

Publication type:

Article

When more really means more: WGS standards and quality control.

Published in:

2017

By:

Patrinos, George P.

Publication type:

Other

Mutation of serine/threonine protein kinase 36 ( STK36) causes primary ciliary dyskinesia with a central pair defect.

Published in:

Human Mutation, 2017, v. 38, n. 8, p. 964, doi. 10.1002/humu.23261

By:

Edelbusch, Christine;
Cindrić, Sandra;
Dougherty, Gerard W.;
Loges, Niki T.;
Olbrich, Heike;
Rivlin, Joseph;
Wallmeier, Julia;
Pennekamp, Petra;
Amirav, Israel;
Omran, Heymut

Publication type:

Article

Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia.

Published in:

Human Mutation, 2017, v. 38, n. 8, p. 970, doi. 10.1002/humu.23262

By:

Nasca, Alessia;
Scotton, Chiara;
Zaharieva, Irina;
Neri, Marcella;
Selvatici, Rita;
Magnusson, Olafur Thor;
Gal, Aniko;
Weaver, David;
Rossi, Rachele;
Armaroli, Annarita;
Pane, Marika;
Phadke, Rahul;
Sarkozy, Anna;
Muntoni, Francesco;
Hughes, Imelda;
Cecconi, Antonella;
Hajnóczky, György;
Donati, Alice;
Mercuri, Eugenio;
Zeviani, Massimo

Publication type:

Article

RettBASE: Rett syndrome database update.

Published in:

Human Mutation, 2017, v. 38, n. 8, p. 922, doi. 10.1002/humu.23263

By:

Krishnaraj, Rahul;
Ho, Gladys;
Christodoulou, John

Publication type:

Article

Varied pathological and therapeutic response effects associated with CHCHD2 mutant and risk variants.

Published in:

Human Mutation, 2017, v. 38, n. 8, p. 978, doi. 10.1002/humu.23234

By:

Tio, Murni;
Wen, Rujing;
Lim, Yih Lin;
Zukifli, Zul Haikhel Bin;
Xie, Shaoping;
Ho, Patrick;
Zhou, Zhidong;
Koh, Tong‐Wey;
Zhao, Yi;
Tan, Eng‐King

Publication type:

Article

Critical points for an accurate human genome analysis.

Published in:

Human Mutation, 2017, v. 38, n. 8, p. 912, doi. 10.1002/humu.23238

By:

White, Stefan J.;
Laros, Jeroen F.J.;
Bakker, Egbert;
Cambon‐Thomsen, Anne;
Eden, Martin;
Leonard, Samantha;
Lochmüller, Hanns;
Matthijs, Gert;
Mattocks, Christopher;
Patton, Simon;
Payne, Katherine;
Scheffer, Hans;
Souche, Erica;
Thomassen, Ellen;
Thompson, Rachel;
Traeger‐Synodinos, Jan;
Vooren, Steven;
Janssen, Bart;
den Dunnen, Johan T.

Publication type:

Article