Works matching IS 00099163 AND DT 2022 AND VI 102 AND IP 2

Results: 14

Prenatal diagnosis of a germline variant in TRAF7: Importance of accessibility to prenatal exome sequencing in cases of structural fetal anomalies.

Published in:

Clinical Genetics, 2022, v. 102, n. 2, p. 164, doi. 10.1111/cge.14170

By:

Malinowski, Amy;
Elsamadicy, Emad A.;
Turan, Sifa

Publication type:

Article

Further validation of the Perceptions of Uncertainties in Genome Sequencing scale among patients with cancer undergoing tumor sequencing.

Published in:

Clinical Genetics, 2022, v. 102, n. 2, p. 110, doi. 10.1111/cge.14169

By:

Umstead, Kendall L.;
Campbell, Rachel;
Napier, Christine E.;
Bartley, Nicole;
Best, Megan C.;
Butow, Phyllis N.;
Biesecker, Barbara B.

Publication type:

Article

Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.

Published in:

Clinical Genetics, 2022, v. 102, n. 2, p. 98, doi. 10.1111/cge.14165

By:

Christensen, Maria B.;
Levy, Amanda M.;
Mohammadi, Nazanin A.;
Niceta, Marcello;
Kaiyrzhanov, Rauan;
Dentici, Maria Lisa;
Al Alam, Chadi;
Alesi, Viola;
Benoit, Valérie;
Bhatia, Kailash P.;
Bierhals, Tatjana;
Boßelmann, Christian M.;
Buratti, Julien;
Callewaert, Bert;
Ceulemans, Berten;
Charles, Perrine;
De Wachter, Matthias;
Dehghani, Mohammadreza;
D'haenens, Erika;
Doco‐Fenzy, Martine

Publication type:

Article

A humanized murine model, demonstrating dominant progressive hearing loss caused by a novel KCNQ4 mutation (p.G228D) from a large Chinese family.

Published in:

Clinical Genetics, 2022, v. 102, n. 2, p. 149, doi. 10.1111/cge.14164

By:

Cui, Chong;
Zhang, Luping;
Qian, Fuping;
Chen, Yuxin;
Huang, Bowei;
Wang, Fang;
Wang, Daqi;
Lv, Jun;
Wang, Xuechun;
Yan, Zhiqiang;
Guo, Luo;
Li, Geng‐Lin;
Shu, Yilai;
Liu, Dong;
Li, Huawei

Publication type:

Article

Further evidence for distinct traits associated with RBM10 missense variants.

Published in:

Clinical Genetics, 2022, v. 102, n. 2, p. 161, doi. 10.1111/cge.14163

By:

Poulton, Cathryn;
Baynam, Gareth;
Pugh, Kye;
Mason, Michael;
Kiraly‐Borri, Catherine;
Gration, Dylan;
Dreyer, Lauren;
Viti, Leon;
Agostino, Mark;
Heng, Julian Ik‐Tsen

Publication type:

Article

Expanding the novel MAPKAPK5–related developmental disorder's genotype–phenotype correlation: Patient report and 19 months of follow‐up.

Published in:

Clinical Genetics, 2022, v. 102, n. 2, p. 142, doi. 10.1111/cge.14150

By:

Vecchio, Davide;
Cocciadiferro, Dario;
Macchiaiolo, Marina;
Gonfiantini, Michaela Veronika;
Agolini, Emanuele;
Matraxia, Marta;
Carboni, Alessia;
Coretti, Antonella;
Villani, Andrea;
Panfili, Filippo Maria;
Dentici, Maria Lisa;
Buonuomo, Paola Sabrina;
Rana, Ippolita;
Colafati, Giovanna Stefania;
Digilio, Maria Cristina;
Novelli, Antonio;
Bartuli, Andrea

Publication type:

Article

Phenotypic expansion and variable expressivity in individuals with JARID2‐related intellectual disability: A case series.

Published in:

Clinical Genetics, 2022, v. 102, n. 2, p. 136, doi. 10.1111/cge.14149

By:

Cadieux‐Dion, Maxime;
Farrow, Emily;
Thiffault, Isabelle;
Cohen, Ana S. A.;
Welsh, Holly;
Bartik, Lauren;
Schwager, Caitlin;
Engleman, Kendra;
Zhou, Dihong;
Zhang, Lei;
Repnikova, Elena;
Amudhavalli, Shivarajan M.;
Saunders, Carol J.

Publication type:

Article

Carrier frequency of autosomal recessive genetic conditions in diverse populations: Lessons learned from the genome aggregation database.

Published in:

Clinical Genetics, 2022, v. 102, n. 2, p. 87, doi. 10.1111/cge.14148

By:

Schmitz, Matthew J.;
Aarabi, Mahmoud;
Bashar, Ali;
Rajkovic, Aleksandar;
Gregg, Anthony R.;
Yatsenko, Svetlana A.

Publication type:

Article

Loss of function mutation in DNAH7 induces male infertility associated with abnormalities of the sperm flagella and mitochondria in human.

Published in:

Clinical Genetics, 2022, v. 102, n. 2, p. 130, doi. 10.1111/cge.14146

By:

Gao, Yang;
Liu, Liting;
Shen, Qunshan;
Fu, Feifei;
Xu, Chuan;
Geng, Hao;
Lv, Mingrong;
Li, Kuokuo;
Tang, Dongdong;
Song, Bing;
Wu, Huan;
Xu, Yuping;
Zhang, Ying;
Tao, Fangbiao;
Zhou, Ping;
Wei, Zhaolian;
He, Xiaojin;
Cao, Yunxia

Publication type:

Article

Neuronal ceroïd‐lipofuscinosis: Clinical, electroencephalographic, imaging, and genetic study of a maghrebian series.

Published in:

Clinical Genetics, 2022, v. 102, n. 2, p. 157, doi. 10.1111/cge.14145

By:

Ben Younes, Thouraya;
Kraoua, Ichraf;
Snanoudj, Sarah;
Klaa, Hedia;
Benrhouma, Hanene;
Rouissi, Aida;
Caillaud, Catherine;
Chaabouni, Myriam;
Miladi, Najoua;
Bekri, Soumeya;
Ben Youssef‐Turki, Ilhem

Publication type:

Article

A syndrome of severe intellectual disability, hypotonia, failure to thrive, dysmorphism, and thinning of corpus callosum maps to chromosome 7q21.13‐q21.3.

Published in:

Clinical Genetics, 2022, v. 102, n. 2, p. 123, doi. 10.1111/cge.14143

By:

Halperin, Daniel;
Agam, Nadav;
Hallak, Maher;
Feinstein, Miora;
Drabkin, Max;
Yogev, Yuval;
Wormser, Ohad;
Shavit, Eitan;
Gradstein, Libe;
Shelef, Ilan;
Mijalovsky, Aanalia;
Flusser, Hagit;
Birk, Ohad S.

Publication type:

Article

Issue Information.

Published in:: Clinical Genetics, 2022, v. 102, n. 2, p. 85, doi. 10.1111/cge.13988
Publication type:: Article

Decipher non‐canonical SPAST splicing mutations with the help of functional assays in patients affected by spastic paraplegia 4 (SPG4).

Published in:

Clinical Genetics, 2022, v. 102, n. 2, p. 155, doi. 10.1111/cge.14142

By:

Ferese, Rosangela;
Scala, Simona;
Suppa, Antonio;
Campopiano, Rosa;
Asci, Francesco;
Chiaravalloti, Maria Antonietta;
Zampogna, Alessandro;
D'Alessio, Carmelo;
Fittipaldi, Filomena;
Buttari, Fabio;
Di Pardo, Alba;
Giardina, Emiliano;
Zampatti, Stefania;
Fornai, Francesco;
Novelli, Giuseppe;
Fanelli, Mirco;
Zecca, Chiara;
Logroscino, Giancarlo;
Centonze, Diego;
Gambardella, Stefano

Publication type:

Article

Understanding the new BRD4‐related syndrome: Clinical and genomic delineation with an international cohort study.

Published in:

Clinical Genetics, 2022, v. 102, n. 2, p. 117, doi. 10.1111/cge.14141

By:

Jouret, Guillaume;
Heide, Solveig;
Sorlin, Arthur;
Faivre, Laurence;
Chantot‐Bastaraud, Sandra;
Beneteau, Claire;
Denis‐Musquer, Marie;
Turnpenny, Peter D.;
Coutton, Charles;
Vieville, Gaëlle;
Thevenon, Julien;
Larson, Austin;
Petit, Florence;
Boudry, Elise;
Smol, Thomas;
Delobel, Bruno;
Duban‐Bedu, Bénédicte;
Fallerini, Chiara;
Mari, Francesca;
Lo Rizzo, Caterina

Publication type:

Article