Works matching IS 10597794 AND DT 2019 AND VI 40 AND IP 8

Results: 21

Back Cover, Volume 40, Issue 8.
Published in:
Human Mutation, 2019, v. 40, n. 8, p. ii, doi. 10.1002/humu.23893
By:
- Martins, Carla;
- Medeiros, Paula Frassinetti V.;
- Leistner‐Segal, Sandra;
- Dridi, Larbi;
- Elcioglu, Nursel;
- Wood, Jill;
- Behnam, Mahdiyeh;
- Noyan, Bilge;
- Lacerda, Lucia;
- Geraghty, Michael T.;
- Labuda, Damian;
- Giugliani, Roberto;
- Pshezhetsky, Alexey V.
Publication type:
Article
Front Cover, Volume 40, Issue 8.
Published in:
Human Mutation, 2019, v. 40, n. 8, p. i, doi. 10.1002/humu.23892
By:
- Wiel, Laurens;
- Baakman, Coos;
- Gilissen, Daan;
- Veltman, Joris A.;
- Vriend, Gerrit;
- Gilissen, Christian
Publication type:
Article
Efficient variant data preparation for Human Mutation manuscripts: Variants and phenotypes.
Published in:
Human Mutation, 2019, v. 40, n. 8, p. 1009, doi. 10.1002/humu.23830
By:
- den Dunnen, Johan T.
Publication type:
Article
Congenital disorders of glycosylation and the challenge of rare diseases.
Published in:
Human Mutation, 2019, v. 40, n. 8, p. 1010, doi. 10.1002/humu.23829
By:
- Gilfix, Brian M.
Publication type:
Article
Functional analysis of new variants at the low‐density lipoprotein receptor associated with familial hypercholesterolemia.
Published in:
Human Mutation, 2019, v. 40, n. 8, p. 1181, doi. 10.1002/humu.23801
By:
- Rodríguez‐Jiménez, Carmen;
- Pernía, Olga;
- Mostaza, Jose;
- Rodríguez‐Antolín, Carlos;
- Dios García‐Díaz, Juan;
- Alonso‐Cerezo, Concepción;
- García‐Polo, Iluminada;
- Blanco, Agustín;
- Lahoz, Carlos;
- Arrieta, Francisco;
- Beltrán, Luis;
- Díaz de Bustamante, Aránzazu;
- Garzón‐Lorenzo, Lucía;
- Álvarez‐Sala, Luis Antonio;
- Asenjo, Ángel;
- Ibáñez de Cáceres, Inmaculada;
- Rodríguez‐Nóvoa, Sonia
Publication type:
Article
MetaDome: Pathogenicity analysis of genetic variants through aggregation of homologous human protein domains.
Published in:
Human Mutation, 2019, v. 40, n. 8, p. 1030, doi. 10.1002/humu.23798
By:
- Wiel, Laurens;
- Baakman, Coos;
- Gilissen, Daan;
- Veltman, Joris A.;
- Vriend, Gerrit;
- Gilissen, Christian
Publication type:
Article
A functional assay to classify ZBTB24 missense variants of unknown significance.
Published in:
Human Mutation, 2019, v. 40, n. 8, p. 1077, doi. 10.1002/humu.23786
By:
- Wu, Haoyu;
- Vonk, Kelly K. D.;
- Maarel, Silvère M.;
- Santen, Gijs W.E.;
- Daxinger, Lucia
Publication type:
Article
The TALE homeodomain of PBX1 is involved in human primary testis‐determination.
Published in:
Human Mutation, 2019, v. 40, n. 8, p. 1071, doi. 10.1002/humu.23780
By:
- Eozenou, Caroline;
- Bashamboo, Anu;
- Bignon‐Topalovic, Joelle;
- Merel, Tiphanie;
- Zwermann, Oliver;
- Lourenco, Diana;
- Lottmann, Henri;
- Lichtenauer, Urs;
- Rojo, Sandra;
- Beuschlein, Felix;
- McElreavey, Ken;
- Brauner, Raja
Publication type:
Article
Biallelic variants in DNA2 cause microcephalic primordial dwarfism.
Published in:
Human Mutation, 2019, v. 40, n. 8, p. 1063, doi. 10.1002/humu.23776
By:
- Tarnauskaitė, Žygimantė;
- Bicknell, Louise S.;
- Marsh, Joseph A.;
- Murray, Jennie E.;
- Parry, David A.;
- Logan, Clare V.;
- Bober, Michael B.;
- Silva, Deepthi C.;
- Duker, Angela L.;
- Sillence, David;
- Wise, Carol;
- Jackson, Andrew P.;
- Murina, Olga;
- Reijns, Martin A. M.
Publication type:
Article
Multigenic truncation of the semaphorin–plexin pathway by a germline chromothriptic rearrangement associated with Moebius syndrome.
Published in:
Human Mutation, 2019, v. 40, n. 8, p. 1057, doi. 10.1002/humu.23775
By:
- Nazaryan‐Petersen, Lusine;
- Oliveira, Inês R.;
- Mehrjouy, Mana M.;
- Mendez, Juan M. M.;
- Bak, Mads;
- Bugge, Merete;
- Kalscheuer, Vera M.;
- Bache, Iben;
- Hancks, Dustin C.;
- Tommerup, Niels
Publication type:
Article
Modified U1 snRNA and antisense oligonucleotides rescue splice mutations in SLC26A4 that cause hereditary hearing loss.
Published in:
Human Mutation, 2019, v. 40, n. 8, p. 1172, doi. 10.1002/humu.23774
By:
- Lee, Byeonghyeon;
- Kim, Ye‐Ri;
- Kim, Sang‐Joo;
- Goh, Sung‐Ho;
- Kim, Jong‐Heun;
- Oh, Se‐Kyung;
- Baek, Jeong‐In;
- Kim, Un‐Kyung;
- Lee, Kyu‐Yup
Publication type:
Article
Characterizing variants of unknown significance in rhodopsin: A functional genomics approach.
Published in:
Human Mutation, 2019, v. 40, n. 8, p. 1127, doi. 10.1002/humu.23762
By:
- Wan, Aliete;
- Place, Emily;
- Pierce, Eric A.;
- Comander, Jason
Publication type:
Article
Mutation update for the SATB2 gene.
Published in:
Human Mutation, 2019, v. 40, n. 8, p. 1013, doi. 10.1002/humu.23771
By:
- Zarate, Yuri A.;
- Bosanko, Katherine A.;
- Caffrey, Aisling R.;
- Bernstein, Jonathan A.;
- Martin, Donna M.;
- Williams, Marc S.;
- Berry‐Kravis, Elizabeth M.;
- Mark, Paul R.;
- Manning, Melanie A.;
- Bhambhani, Vikas;
- Vargas, Marcelo;
- Seeley, Andrea H.;
- Estrada‐Veras, Juvianee I.;
- Dooren, Marieke F.;
- Schwab, Maria;
- Vanderver, Adeline;
- Melis, Daniela;
- Alsadah, Adnan;
- Sadler, Laurie;
- Esch, Hilde
Publication type:
Article
Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene.
Published in:
Human Mutation, 2019, v. 40, n. 8, p. 1145, doi. 10.1002/humu.23768
By:
- Felden, Julia;
- Baumann, Britta;
- Ali, Manir;
- Audo, Isabelle;
- Ayuso, Carmen;
- Bocquet, Beatrice;
- Casteels, Ingele;
- Garcia‐Sandoval, Blanca;
- Jacobson, Samuel G.;
- Jurklies, Bernhard;
- Kellner, Ulrich;
- Kessel, Line;
- Lorenz, Birgit;
- McKibbin, Martin;
- Meunier, Isabelle;
- Ravel, Thomy;
- Rosenberg, Thomas;
- Rüther, Klaus;
- Vadala, Maria;
- Wissinger, Bernd
Publication type:
Article
Clinical and functional characterization of a novel RASopathy‐causing SHOC2 mutation associated with prenatal‐onset hypertrophic cardiomyopathy.
Published in:
Human Mutation, 2019, v. 40, n. 8, p. 1046, doi. 10.1002/humu.23767
By:
- Motta, Marialetizia;
- Giancotti, Antonella;
- Mastromoro, Gioia;
- Chandramouli, Balasubramanian;
- Pinna, Valentina;
- Pantaleoni, Francesca;
- Di Giosaffatte, Niccolò;
- Petrini, Stefania;
- Mazza, Tommaso;
- D'Ambrosio, Valentina;
- Versacci, Paolo;
- Ventriglia, Flavia;
- Chillemi, Giovanni;
- Pizzuti, Antonio;
- Tartaglia, Marco;
- Luca, Alessandro
Publication type:
Article
A2ML1 and otitis media: novel variants, differential expression, and relevant pathways.
Published in:
Human Mutation, 2019, v. 40, n. 8, p. 1156, doi. 10.1002/humu.23769
By:
- Larson, Eric D.;
- Magno, Jose Pedrito M.;
- Steritz, Matthew J.;
- Llanes, Erasmo Gonzalo d.V.;
- Cardwell, Jonathan;
- Pedro, Melquiadesa;
- Roberts, Tori Bootpetch;
- Einarsdottir, Elisabet;
- Rosanes, Rose Anne Q.;
- Greenlee, Christopher;
- Santos, Rachel Ann P.;
- Yousaf, Ayesha;
- Streubel, Sven‐Olrik;
- Santos, Aileen Trinidad R.;
- Ruiz, Amanda G.;
- Lagrana‐Villagracia, Sheryl Mae;
- Ray, Dylan;
- Yarza, Talitha Karisse L.;
- Scholes, Melissa A.;
- Anderson, Catherine B.
Publication type:
Article
Biallelic mutation in MYH7 and MYBPC3 leads to severe cardiomyopathy with left ventricular noncompaction phenotype.
Published in:
Human Mutation, 2019, v. 40, n. 8, p. 1101, doi. 10.1002/humu.23757
By:
- Kolokotronis, Konstantinos;
- Kühnisch, Jirko;
- Klopocki, Eva;
- Dartsch, Josephine;
- Rost, Simone;
- Huculak, Cathleen;
- Mearini, Giulia;
- Störk, Stefan;
- Carrier, Lucie;
- Klaassen, Sabine;
- Gerull, Brenda
Publication type:
Article
Molecular characterization of a large group of Mucopolysaccharidosis type IIIC patients reveals the evolutionary history of the disease.
Published in:
Human Mutation, 2019, v. 40, n. 8, p. 1084, doi. 10.1002/humu.23752
By:
- Martins, Carla;
- Medeiros, Paula Frassinetti V.;
- Leistner‐Segal, Sandra;
- Dridi, Larbi;
- Elcioglu, Nursel;
- Wood, Jill;
- Behnam, Mahdiyeh;
- Noyan, Bilge;
- Lacerda, Lucia;
- Geraghty, Michael T.;
- Labuda, Damian;
- Giugliani, Roberto;
- Pshezhetsky, Alexey V.
Publication type:
Article
Issue Information.
Published in:
Human Mutation, 2019, v. 40, n. 8, p. 1005, doi. 10.1002/humu.23575
Publication type:
Article
Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis.
Published in:
Human Mutation, 2019, v. 40, n. 8, p. 1115, doi. 10.1002/humu.23760
By:
- Shashi, Vandana;
- Geist, Janelle;
- Lee, Youngha;
- Yoo, Yongjin;
- Shin, Unbeom;
- Schoch, Kelly;
- Sullivan, Jennifer;
- Stong, Nicholas;
- Smith, Edward;
- Jasien, Joan;
- Kranz, Peter;
- Lee, Yoonsung;
- Shin, Yong Beom;
- Wright, Nathan T.;
- Choi, Murim;
- Kontrogianni‐Konstantopoulos, Aikaterini;
- Acosta, Maria T.;
- Adams, David R.;
- Aday, Aaron;
- Alejandro, Mercedes E.
Publication type:
Article
Functional characterization of CEP250 variant identified in nonsyndromic retinitis pigmentosa.
Published in:
Human Mutation, 2019, v. 40, n. 8, p. 1039, doi. 10.1002/humu.23759
By:
- Huang, Xiu‐Feng;
- Xiang, Lue;
- Fang, Xiao‐Long;
- Liu, Wei‐Qin;
- Zhuang, You‐Yuan;
- Chen, Zhen‐Ji;
- Shen, Ren‐Juan;
- Cheng, Wan;
- Han, Ru‐Yi;
- Zheng, Si‐Si;
- Chen, Xue‐Jiao;
- Liu, Xiaoling;
- Jin, Zi‐Bing
Publication type:
Article