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Front Cover, Volume 40, Issue 11.
Published in:
Human Mutation, 2019, v. 40, n. 11, p. i, doi. 10.1002/humu.23934
By:
- Reuser, Arnold J. J.;
- Ploeg, Ans T.;
- Chien, Yin‐Hsiu;
- Llerena, Juan;
- Abbott, Mary‐Alice;
- Clemens, Paula R.;
- Kimonis, Virginia E.;
- Leslie, Nancy;
- Maruti, Sonia S.;
- Sanson, Bernd‐Jan;
- Araujo, Roberto;
- Periquet, Magali;
- Toscano, Antonio;
- Kishnani, Priya S.;
- on behalf of the Pompe Registry Sites
Publication type:
Article
A key leader in homocystinuria research: Jan P. Kraus (1942–2019).
Published in:
Human Mutation, 2019, v. 40, n. 11, p. 1909, doi. 10.1002/humu.23897
By:
- Kožich, Viktor;
- Majtan, Tomas
Publication type:
Article
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
Published in:
Human Mutation, 2019, v. 40, n. 11, p. 2146, doi. 10.1002/humu.23878
By:
- Reuser, Arnold J. J.;
- Ploeg, Ans T.;
- Chien, Yin‐Hsiu;
- Llerena, Juan;
- Abbott, Mary‐Alice;
- Clemens, Paula R.;
- Kimonis, Virginia E.;
- Leslie, Nancy;
- Maruti, Sonia S.;
- Sanson, Bernd‐Jan;
- Araujo, Roberto;
- Periquet, Magali;
- Toscano, Antonio;
- Kishnani, Priya S.;
- on behalf of the Pompe Registry Sites
Publication type:
Article
Ten years of DICER1 mutations: Provenance, distribution, and associated phenotypes.
Published in:
Human Mutation, 2019, v. 40, n. 11, p. 1939, doi. 10.1002/humu.23877
By:
- Kock, Leanne;
- Wu, Mona K.;
- Foulkes, William D.
Publication type:
Article
Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis.
Published in:
Human Mutation, 2019, v. 40, n. 11, p. 1993, doi. 10.1002/humu.23845
By:
- Chatron, Nicolas;
- Cassinari, Kevin;
- Quenez, Olivier;
- Baert‐Desurmont, Stéphanie;
- Bardel, Claire;
- Buisine, Marie‐Pierre;
- Calpena, Eduardo;
- Capri, Yline;
- Corominas Galbany, Jordi;
- Diguet, Flavie;
- Edery, Patrick;
- Isidor, Bertrand;
- Labalme, Audrey;
- Le Caignec, Cedric;
- Lévy, Jonathan;
- Lecoquierre, François;
- Lindenbaum, Pierre;
- Pichon, Olivier;
- Rollat‐Farnier, Pierre‐Antoine;
- Simonet, Thomas
Publication type:
Article
Iranome: A catalog of genomic variations in the Iranian population.
Published in:
Human Mutation, 2019, v. 40, n. 11, p. 1968, doi. 10.1002/humu.23880
By:
- Fattahi, Zohreh;
- Beheshtian, Maryam;
- Mohseni, Marzieh;
- Poustchi, Hossein;
- Sellars, Erin;
- Nezhadi, Sayyed Hossein;
- Amini, Amir;
- Arzhangi, Sanaz;
- Jalalvand, Khadijeh;
- Jamali, Peyman;
- Mohammadi, Zahra;
- Davarnia, Behzad;
- Nikuei, Pooneh;
- Oladnabi, Morteza;
- Mohammadzadeh, Akbar;
- Zohrehvand, Elham;
- Nejatizadeh, Azim;
- Shekari, Mohammad;
- Bagherzadeh, Maryam;
- Shamsi‐Gooshki, Ehsan
Publication type:
Article
Corrigendum.
Published in:
Human Mutation, 2019, v. 40, n. 11, p. 2265, doi. 10.1002/humu.23871
Publication type:
Article
A functional variant in the miR‐142 promoter modulating its expression and conferring risk of Alzheimer disease.
Published in:
Human Mutation, 2019, v. 40, n. 11, p. 2131, doi. 10.1002/humu.23872
By:
- Ghanbari, Mohsen;
- Munshi, Shashini T.;
- Ma, Buyun;
- Lendemeijer, Bas;
- Bansal, Sakshi;
- Adams, Hieab H.;
- Wang, Wenshi;
- Goth, Kerstin;
- Slump, Denise E.;
- den Hout, Mirjam C.G.N.;
- IJcken, Wilfred F.J.;
- Bellusci, Saverio;
- Pan, Qiuwei;
- Erkeland, Stefan J.;
- Vrij, Femke M.S.;
- Kushner, Steven A.;
- Ikram, M. Arfan
Publication type:
Article
Novel SCA19/22‐associated KCND3 mutations disrupt human K<sub>V</sub>4.3 protein biosynthesis and channel gating.
Published in:
Human Mutation, 2019, v. 40, n. 11, p. 2088, doi. 10.1002/humu.23865
By:
- Hsiao, Cheng‐Tsung;
- Fu, Ssu‐Ju;
- Liu, Yo‐Tsen;
- Lu, Yi‐Hsiang;
- Zhong, Ciao‐Yu;
- Tang, Chih‐Yung;
- Soong, Bing‐Wen;
- Jeng, Chung‐Jiuan
Publication type:
Article
Biallelic variants in CTU2 cause DREAM‐PL syndrome and impair thiolation of tRNA wobble U34.
Published in:
Human Mutation, 2019, v. 40, n. 11, p. 2108, doi. 10.1002/humu.23870
By:
- Shaheen, Ranad;
- Mark, Paul;
- Prevost, Christopher T.;
- AlKindi, Adila;
- Alhag, Ahmad;
- Estwani, Fatima;
- Al‐Sheddi, Tarfa;
- Alobeid, Eman;
- Alenazi, Mona M.;
- Ewida, Nour;
- Ibrahim, Niema;
- Hashem, Mais;
- Abdulwahab, Firdous;
- Bryant, Emily M.;
- Spinelli, Egidio;
- Millichap, John;
- Barnett, Sarah S.;
- Kearney, Hutton M.;
- Accogli, Andrea;
- Scala, Marcello
Publication type:
Article
Assessment of the functional impact on the pre‐mRNA splicing process of 28 nucleotide variants associated with Pompe disease in GAA exon 2 and their recovery using antisense technology.
Published in:
Human Mutation, 2019, v. 40, n. 11, p. 2121, doi. 10.1002/humu.23867
By:
- Goina, Elisa;
- Musco, Lorena;
- Dardis, Andrea;
- Buratti, Emanuele
Publication type:
Article
Compound heterozygous ZP1 mutations cause empty follicle syndrome in infertile sisters.
Published in:
Human Mutation, 2019, v. 40, n. 11, p. 2001, doi. 10.1002/humu.23864
By:
- Sun, Ling;
- Fang, Xiang;
- Chen, Zhiheng;
- Zhang, Hanwang;
- Zhang, Zhan;
- Zhou, Pei;
- Xue, Ting;
- Peng, Xiaofang;
- Zhu, Qianying;
- Yin, Minna;
- Liu, Chunlin;
- Deng, Yu;
- Hu, Hao;
- Li, Na
Publication type:
Article
Rs2262251 in lncRNA RP11‐462G12.2 is associated with nonsyndromic cleft lip with/without cleft palate.
Published in:
Human Mutation, 2019, v. 40, n. 11, p. 2057, doi. 10.1002/humu.23859
By:
- Yun, Lu;
- Ma, Lan;
- Wang, Meilin;
- Yang, Fan;
- Kan, Shiyi;
- Zhang, Chi;
- Xu, Min;
- Li, Dandan;
- Du, Yifei;
- Zhang, Weibing;
- Pan, Yongchu;
- Wang, Lin
Publication type:
Article
Structural variation at the CYP2C locus: Characterization of deletion and duplication alleles.
Published in:
Human Mutation, 2019, v. 40, n. 11, p. e37, doi. 10.1002/humu.23855
By:
- Botton, Mariana R.;
- Lu, Xingwu;
- Zhao, Geping;
- Repnikova, Elena;
- Seki, Yoshinori;
- Gaedigk, Andrea;
- Schadt, Eric E.;
- Edelmann, Lisa;
- Scott, Stuart A.
Publication type:
Article
Meta‐analysis of genotype‐phenotype associations in Bardet‐Biedl syndrome uncovers differences among causative genes.
Published in:
Human Mutation, 2019, v. 40, n. 11, p. 2068, doi. 10.1002/humu.23862
By:
- Niederlova, Veronika;
- Modrak, Martin;
- Tsyklauri, Oksana;
- Huranova, Martina;
- Stepanek, Ondrej
Publication type:
Article
Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease.
Published in:
Human Mutation, 2019, v. 40, n. 11, p. 1924, doi. 10.1002/humu.23860
By:
- Gardner, Emily;
- Bailey, Mitch;
- Schulz, Angela;
- Aristorena, Mikel;
- Miller, Nicole;
- Mole, Sara E.
Publication type:
Article
Extension of the Pompe mutation database by linking disease‐associated variants to clinical severity.
Published in:
Human Mutation, 2019, v. 40, n. 11, p. 1954, doi. 10.1002/humu.23854
By:
- Niño, Monica Y.;
- in 't Groen, Stijn L.M.;
- Bergsma, Atze J.;
- Beek, Nadine A.M.E.;
- Kroos, Marian;
- Hoogeveen‐Westerveld, Marianne;
- Ploeg, Ans T.;
- Pijnappel, W.W.M. Pim
Publication type:
Article
Molecular diagnostic workflow, clinical interpretation of sequence variants, and data repository procedures in 140 individuals with familial cerebral cavernous malformations.
Published in:
Human Mutation, 2019, v. 40, n. 11, p. e24, doi. 10.1002/humu.23851
By:
- Fusco, Carmela;
- Copetti, Massimiliano;
- Mazza, Tommaso;
- Amoruso, Luigi;
- Mastoianno, Sandra;
- Nardella, Grazia;
- Guarnieri, Vito;
- Micale, Lucia;
- D'Agruma, Leonardo;
- Castori, Marco
Publication type:
Article
Functional interrogation of Lynch syndrome‐associated MSH2 missense variants via CRISPR‐Cas9 gene editing in human embryonic stem cells.
Published in:
Human Mutation, 2019, v. 40, n. 11, p. 2044, doi. 10.1002/humu.23848
By:
- Rath, Abhijit;
- Mishra, Akriti;
- Ferreira, Victoria Duque;
- Hu, Chaoran;
- Omerza, Gregory;
- Kelly, Kevin;
- Hesse, Andrew;
- Reddi, Honey V.;
- Grady, James P.;
- Heinen, Christopher D.
Publication type:
Article
Contribution to colonic polyposis of recently proposed predisposing genes and assessment of the prevalence of NTHL1‐ and MSH3‐associated polyposes.
Published in:
Human Mutation, 2019, v. 40, n. 11, p. 1910, doi. 10.1002/humu.23853
By:
- Terradas, Mariona;
- Munoz‐Torres, Pau M.;
- Belhadj, Sami;
- Aiza, Gemma;
- Navarro, Matilde;
- Brunet, Joan;
- Capellá, Gabriel;
- Valle, Laura
Publication type:
Article
Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations.
Published in:
Human Mutation, 2019, v. 40, n. 11, p. 2033, doi. 10.1002/humu.23847
By:
- Cohen, Enzo;
- Belkacem, Sabrina;
- Fedala, Soumeya;
- Collot, Nathalie;
- Khallouf, Eliane;
- Dastot, Florence;
- Polak, Michel;
- Duquesnoy, Philippe;
- Brioude, Frederic;
- Rose, Sophie;
- Viot, Géraldine;
- Soleyan, Aude;
- Carel, Jean‐Claude;
- Sobrier, Marie‐Laure;
- Chanson, Philippe;
- Gatelais, Frédérique;
- Heinrichs, Claudine;
- Kaffel, Noureddine;
- Coutant, Regis;
- Savaş Erdeve, Şenay
Publication type:
Article
The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries.
Published in:
Human Mutation, 2019, v. 40, n. 11, p. e1, doi. 10.1002/humu.23842
By:
- Laitman, Yael;
- Friebel, Tara M.;
- Yannoukakos, Drakoulis;
- Fostira, Florentia;
- Konstantopoulou, Irene;
- Figlioli, Gisella;
- Bonanni, Bernardo;
- Manoukian, Siranoush;
- Zuradelli, Monica;
- Tondini, Carlo;
- Pasini, Barbara;
- Peterlongo, Paolo;
- Plaseska‐Karanfilska, Dijana;
- Jakimovska, Milena;
- Majidzadeh, Keivan;
- Zarinfam, Shiva;
- Loizidou, Maria A.;
- Hadjisavvas, Andreas;
- Michailidou, Kyriaki;
- Kyriacou, Kyriacos
Publication type:
Article
Homozygous loss‐of‐function variants of TASP1, a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomalies.
Published in:
Human Mutation, 2019, v. 40, n. 11, p. 1985, doi. 10.1002/humu.23844
By:
- Suleiman, Jehan;
- Riedhammer, Korbinian M.;
- Jicinsky, Timothy;
- Mundt, Melinda;
- Werner, Laurie;
- Gusic, Mirjana;
- Burgemeister, Anna L.;
- Alsaif, Hessa S.;
- Abdulrahim, Maha;
- Moghrabi, Nabil N;
- Nicolas‐Jilwan, Manal;
- AlSayed, Moeenaldeen;
- Bi, Weimin;
- Sampath, Srirangan;
- Alkuraya, Fowzan S.;
- El‐Hattab, Ayman W.
Publication type:
Article
Large‐scale functional LIPA variant characterization to improve birth prevalence estimates of lysosomal acid lipase deficiency.
Published in:
Human Mutation, 2019, v. 40, n. 11, p. 2007, doi. 10.1002/humu.23837
By:
- Angel, Guillermo;
- Hutchinson, Andrew T.;
- Jain, Nina K.;
- Forbes, Chris D.;
- Reynders, John
Publication type:
Article
Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment.
Published in:
Human Mutation, 2019, v. 40, n. 11, p. 2021, doi. 10.1002/humu.23836
By:
- Quartier, Angélique;
- Courraud, Jérémie;
- Thi Ha, Thuong;
- McGillivray, George;
- Isidor, Bertrand;
- Rose, Katherine;
- Drouot, Nathalie;
- Savidan, Marie‐Armel;
- Feger, Claire;
- Jagline, Hélène;
- Chelly, Jamel;
- Shaw, Marie;
- Laumonnier, Frédéric;
- Gecz, Jozef;
- Mandel, Jean‐Louis;
- Piton, Amélie
Publication type:
Article
Issue Information.
Published in:
Human Mutation, 2019, v. 40, n. 11, p. 1905, doi. 10.1002/humu.23578
Publication type:
Article

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