Works matching IS 00099163 AND DT 2020 AND VI 97 AND IP 2

Results: 21

Front Cover.

Published in:

Clinical Genetics, 2020, v. 97, n. 2, p. i, doi. 10.1111/cge.13707

By:

Najafi, Arash;
Caspar, Sylvan M.;
Meienberg, Janine;
Rohrbach, Marianne;
Steinmann, Beat;
Matyas, Gabor

Publication type:

Article

Phenotype‐to‐genotype approach reveals head‐circumference‐associated genes in an autism spectrum disorder cohort.

Published in:

Clinical Genetics, 2020, v. 97, n. 2, p. 338, doi. 10.1111/cge.13665

By:

Wu, Huidan;
Li, Honghui;
Bai, Ting;
Han, Lin;
Ou, Jianjun;
Xun, Guanglei;
Zhang, Yu;
Wang, Yazhe;
Duan, Guiqin;
Zhao, Ningxia;
Chen, Biyuan;
Du, Xiaogang;
Yao, Meiling;
Zou, Xiaobing;
Zhao, Jingping;
Hu, Zhengmao;
Eichler, Evan E.;
Guo, Hui;
Xia, Kun

Publication type:

Article

Who should access germline genome sequencing? A mixed methods study of patient views.

Published in:

Clinical Genetics, 2020, v. 97, n. 2, p. 329, doi. 10.1111/cge.13664

By:

Best, Megan C.;
Butow, Phyllis;
Jacobs, Chris;
Savard, Jacqueline;
Biesecker, Barbara;
Ballinger, Mandy L.;
Bartley, Nicci;
Davies, Grace;
Napier, Christine E.;
Smit, Amelia K.;
Thomas, David M.;
Newson, Ainsley J.

Publication type:

Article

Loss‐of‐function mutations in centrosomal protein 112 is associated with human acephalic spermatozoa phenotype.

Published in:

Clinical Genetics, 2020, v. 97, n. 2, p. 321, doi. 10.1111/cge.13662

By:

Sha, Yanwei;
Wang, Xiong;
Yuan, JinTing;
Zhu, Xingshen;
Su, Zhiying;
Zhang, Xuequan;
Xu, Xiaohui;
Wei, Xiaoli

Publication type:

Article

Decisional conflict among adolescents and parents making decisions about genomic sequencing results.

Published in:

Clinical Genetics, 2020, v. 97, n. 2, p. 312, doi. 10.1111/cge.13658

By:

Raghuram Pillai, Preethi;
Prows, Cynthia A.;
Martin, Lisa J.;
Myers, Melanie F.

Publication type:

Article

Whole‐exome sequencing identifies rare pathogenic and candidate variants in sporadic Chinese Han deaf patients.

Published in:

Clinical Genetics, 2020, v. 97, n. 2, p. 352, doi. 10.1111/cge.13638

By:

Zou, Songfeng;
Mei, Xueshuang;
Yang, Weiqiang;
Zhu, Rvfei;
Yang, Tao;
Hu, Hongyi

Publication type:

Article

Application of the 2017 criteria for vascular Ehlers‐Danlos syndrome in 50 patients ascertained according to the Villefranche nosology.

Published in:

Clinical Genetics, 2020, v. 97, n. 2, p. 287, doi. 10.1111/cge.13653

By:

Ritelli, Marco;
Rovati, Chiara;
Venturini, Marina;
Chiarelli, Nicola;
Cinquina, Valeria;
Castori, Marco;
Colombi, Marina

Publication type:

Article

A genetic risk score predicts coronary artery disease in familial hypercholesterolaemia: enhancing the precision of risk assessment.

Published in:

Clinical Genetics, 2020, v. 97, n. 2, p. 257, doi. 10.1111/cge.13648

By:

Ellis, Katrina L.;
Hooper, Amanda J.;
Pang, Jing;
Chan, Dick C.;
Burnett, John R.;
Bell, Damon A.;
Schultz, Carl J.;
Moses, Eric K.;
Watts, Gerald F.

Publication type:

Article

Evaluating empowerment in genetic counseling using patient‐reported outcomes.

Published in:

Clinical Genetics, 2020, v. 97, n. 2, p. 246, doi. 10.1111/cge.13646

By:

Yuen, Jeanette;
Lee, Suat Y.;
Courtney, Eliza;
Lim, John;
Soh, Hazel;
Li, Shao T.;
Chen, Yanni;
McAllister, Marion;
Fenwick, Eva K.;
Ngeow, Joanne

Publication type:

Article

Clinical diagnostic exome sequencing in dystonia: Genetic testing challenges for complex conditions.

Published in:

Clinical Genetics, 2020, v. 97, n. 2, p. 305, doi. 10.1111/cge.13657

By:

Powis, Zöe;
Towne, Meghan C.;
Hagman, Kelly D.F.;
Blanco, Kirsten;
Palmaer, Erika;
Castro, Andrew;
Sajan, Samin A.;
Radtke, Kelly;
Feyma, Timothy J.;
Juliette, Kali;
Tang, Sha;
Sidiropoulos, Christos

Publication type:

Article

Classical Ehlers‐Danlos syndrome with a propensity to arterial events: A new report on a French family with a COL1A1 p.(Arg312Cys) variant.

Published in:

Clinical Genetics, 2020, v. 97, n. 2, p. 357, doi. 10.1111/cge.13643

By:

Adham, Salma;
Dupuis‐Girod, Sophie;
Charpentier, Etienne;
Mazzella, Jean‐Michaël;
Jeunemaitre, Xavier;
Legrand, Anne

Publication type:

Article

The great mimicker: Phenotypic overlap between constitutional mismatch repair deficiency and Tuberous Sclerosis complex.

Published in:

Clinical Genetics, 2020, v. 97, n. 2, p. 296, doi. 10.1111/cge.13656

By:

Shapira Rootman, Mika;
Goldberg, Yael;
Cohen, Rony;
Kropach, Nesia;
Keidar, Inbal;
Friedland, Rivka;
Dotan, Gad;
Konen, Osnat;
Toledano, Helen

Publication type:

Article

Patterns and predictors of genetic referral among ovarian cancer patients at a National Cancer Institute‐Comprehensive Cancer Center.

Published in:

Clinical Genetics, 2020, v. 97, n. 2, p. 370, doi. 10.1111/cge.13654

By:

Mallen, Adrianne R.;
Conley, Claire C.;
Townsend, Mary K.;
Wells, Ali;
Boac, Bernadette M.;
Todd, Sarah;
Gandhi, Anjalika;
Kuznicki, Michelle;
Augusto, Bianca M.;
McIntyre, McKenzie;
Fridley, Brooke L.;
Tworoger, Shelley S.;
Wenham, Robert M.;
Vadaparampil, Susan T.

Publication type:

Article

Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.

Published in:

Clinical Genetics, 2020, v. 97, n. 2, p. 235, doi. 10.1111/cge.13640

By:

Najafi, Arash;
Caspar, Sylvan M.;
Meienberg, Janine;
Rohrbach, Marianne;
Steinmann, Beat;
Matyas, Gabor

Publication type:

Article

Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late‐onset disorder of mitochondrial DNA maintenance.

Published in:

Clinical Genetics, 2020, v. 97, n. 2, p. 276, doi. 10.1111/cge.13652

By:

Sommerville, Ewen W.;
Dalla Rosa, Ilaria;
Rosenberg, Masha M.;
Bruni, Francesco;
Thompson, Kyle;
Rocha, Mariana;
Blakely, Emma L.;
He, Langping;
Falkous, Gavin;
Schaefer, Andrew M.;
Yu‐Wai‐Man, Patrick;
Chinnery, Patrick F.;
Hedstrom, Lizbeth;
Spinazzola, Antonella;
Taylor, Robert W.;
Gorman, Gráinne S.

Publication type:

Article

Skeletal abnormalities are common features in Aymé‐Gripp syndrome.

Published in:

Clinical Genetics, 2020, v. 97, n. 2, p. 362, doi. 10.1111/cge.13651

By:

Niceta, Marcello;
Barbuti, Domenico;
Gupta, Neerja;
Ruggiero, Carlos;
Tizzano, Eduardo F.;
Graul‐Neumann, Luitgard;
Barresi, Sabina;
Nishimura, Gen;
Valenzuela, Irene;
López‐Grondona, Fermina;
Fernandez‐Alvarez, Paula;
Leoni, Chiara;
Zweier, Christiane;
Tzschach, Andreas;
Stellacci, Emilia;
Del Fattore, Andrea;
Dallapiccola, Bruno;
Zampino, Giuseppe;
Tartaglia, Marco

Publication type:

Article

Novel Arg128Ala variant in Catechol‐O‐methyltransferase gene influence persistent pain.

Published in:

Clinical Genetics, 2020, v. 97, n. 2, p. 378, doi. 10.1111/cge.13650

By:

Dharaniprasad, Goduguchintha;
Samantaray, Aloka;
Srikanth, Lokanathan;
Hanumantha Rao, Mangu;
Chandra, Abha;
Sarma, Potukuchi Venktata Gurunadha Krishna

Publication type:

Article

Mutational spectrum by phenotype: panel‐based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café‐au‐lait macules.

Published in:

Clinical Genetics, 2020, v. 97, n. 2, p. 264, doi. 10.1111/cge.13649

By:

Castellanos, Elisabeth;
Rosas, Inma;
Negro, Alex;
Gel, Bernat;
Alibés, Andreu;
Baena, Neus;
Pineda, Mercè;
Pi, Graciela;
Pintos, Guillem;
Salvador, Hector;
Lázaro, Conxi;
Blanco, Ignacio;
Vilageliu, Lluïsa;
Brems, Hilde;
Grinberg, Daniel;
Legius, Eric;
Serra, Eduard

Publication type:

Article

A deep intronic SMARCB1 variant associated with schwannomatosis.

Published in:

Clinical Genetics, 2020, v. 97, n. 2, p. 376, doi. 10.1111/cge.13637

By:

Smith, Miriam J.;
Bowers, Naomi L.;
Banks, Catherine;
Coates‐Brown, Rosanna;
Morris, Katrina A.;
Ewans, Lisa;
Wilson, Meredith;
Pinner, Jason;
Bhaskar, Sanjeev S.;
Cammarata‐Scalisi, Francisco;
Wallace, Andrew J.;
Evans, Daffyd Gareth R.

Publication type:

Article

Novel homozygous variations in PLCZ1 lead to poor or failed fertilization characterized by abnormal localization patterns of PLCζ in sperm.

Published in:

Clinical Genetics, 2020, v. 97, n. 2, p. 347, doi. 10.1111/cge.13636

By:

Dai, Jing;
Dai, Can;
Guo, Jing;
Zheng, Wei;
Zhang, Tianlei;
Li, Yuan;
Lu, Changfu;
Gong, Fei;
Lu, Guangxiu;
Lin, Ge

Publication type:

Article

Issue Information ‐ Editorial Board.

Published in:: Clinical Genetics, 2020, v. 97, n. 2, p. 233, doi. 10.1111/cge.13568
Publication type:: Article