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
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
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
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
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
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
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 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
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
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
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
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