Works matching IS 00099163 AND DT 2023 AND VI 103 AND IP 2

Results: 19

Improving variant prioritization in exome analysis by entropy‐weighted ensemble of multiple tools.

Published in:

Clinical Genetics, 2023, v. 103, n. 2, p. 190, doi. 10.1111/cge.14257

By:

Fan, Yanjie;
Zhou, Ying;
Liu, Huili;
Luo, Xiaomei;
Xu, Ting;
Sun, Yu;
Yang, Tingting;
Chen, Linlin;
Gu, Xuefan;
Yu, Yongguo

Publication type:

Article

PIK3CA somatic mutations as potential biomarker for immunotherapy in elder or TP53 mutated gastric cancer patients.

Published in:

Clinical Genetics, 2023, v. 103, n. 2, p. 200, doi. 10.1111/cge.14260

By:

Yao, Jun;
You, Qing;
Zhang, Xin;
Zhang, Yu;
Xu, Jiapeng;
Zhao, Xiaokai;
Li, Jieyi;
Wang, Xintao;
Gong, Ziying;
Zhang, Daoyun;
Wang, Weijun

Publication type:

Article

Recurrent missense variants in clonal hematopoiesis‐related genes present in the general population.

Published in:

Clinical Genetics, 2023, v. 103, n. 2, p. 247, doi. 10.1111/cge.14259

By:

Ariste, Olivier;
de la Grange, Pierre;
Veitia, Reiner A.

Publication type:

Article

Novel CNNM4 variant and clinical features of Jalili syndrome.

Published in:

Clinical Genetics, 2023, v. 103, n. 2, p. 256, doi. 10.1111/cge.14258

By:

Rattanapornsompong, Khanti;
Gavila, Patcharaporn;
Tungsanga, Somkanya;
Chanakul, Ankanee;
Apivatthakakul, Atitaya;
Tengsujaritkul, Maliwan;
Tongsong, Theera;
Theerapanon, Thanakorn;
Porntaveetus, Thantrira;
Shotelersuk, Vorasuk

Publication type:

Article

The identification of a novel CCNQ gene tail extension variant contributing to syndactyly, telecanthus and anogenital and renal malformations syndrome.

Published in:

Clinical Genetics, 2023, v. 103, n. 2, p. 179, doi. 10.1111/cge.14255

By:

Che, Ruochen;
Wang, Chunli;
Huang, Songming;
Zheng, Bixia;
Li, Huixia;
Cheng, Xueqin;
Zhao, Fei;
Ding, Guixia;
Jia, Zhanjun;
Zhang, Aihua

Publication type:

Article

A novel MAP3K7 mutation in a child with cardiospondylocarpofacial syndrome and orofacial clefting.

Published in:

Clinical Genetics, 2023, v. 103, n. 2, p. 254, doi. 10.1111/cge.14253

By:

Shepherd, William Billal;
Colaiacovo, Samantha;
Campbell, Craig;
Saleh, Maha

Publication type:

Article

The constitutional gain‐of‐function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome.

Published in:

Clinical Genetics, 2023, v. 103, n. 2, p. 226, doi. 10.1111/cge.14241

By:

Popp, Bernt;
Brugger, Melanie;
Poschmann, Sibylle;
Bartolomaeus, Tobias;
Radtke, Maximilian;
Hentschel, Julia;
Di Donato, Nataliya;
Rump, Andreas;
Gburek‐Augustat, Janina;
Graf, Elisabeth;
Wagner, Matias;
Sorge, Ina;
Lemke, Johannes R;
Meitinger, Thomas;
Abou Jamra, Rami;
Strehlow, Vincent;
Brunet, Theresa

Publication type:

Article

De novo variants and recombination at 4q35: Hints for preimplantation genetic testing in facioscapulohumeral muscular dystrophy.

Published in:

Clinical Genetics, 2023, v. 103, n. 2, p. 242, doi. 10.1111/cge.14250

By:

Pini, Sara;
Napoli, Floriana Maria;
Tagliafico, Enrico;
La Marca, Antonio;
Bertucci, Emma;
Salsi, Valentina;
Tupler, Rossella

Publication type:

Article

A novel variant in GATM causes idiopathic renal Fanconi syndrome and predicts progression to end‐stage kidney disease.

Published in:

Clinical Genetics, 2023, v. 103, n. 2, p. 214, doi. 10.1111/cge.14235

By:

Seaby, Eleanor G.;
Turner, Steven;
Bunyan, David J.;
Seyed‐Rezai, Fariba;
Essex, Jonathan;
Gilbert, Rodney D.;
Ennis, Sarah

Publication type:

Article

New Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome cases are caused by the presence of a nonsense variant in compound heterozygosity with the pathogenic repeat expansion in the RFC1 gene.

Published in:

Clinical Genetics, 2023, v. 103, n. 2, p. 236, doi. 10.1111/cge.14249

By:

Arteche‐López, Ana;
Avila‐Fernandez, Almudena;
Damian, Alejandra;
Soengas‐Gonda, Emma;
de la Fuente, Rubén Pérez;
Gómez, Patricia Ramos;
Merlo, Jesús Gallego;
Burgos, Laura Horcajada;
Fernández, Carlos Cemillán;
Rosales, Jose Miguel Lezana;
Martínez, Juan Francisco González;
Quesada‐Espinosa, Juan Francisco;
Corton, Marta;
Guerrero‐Molina, Maria Paz

Publication type:

Article

A systematic review on Treacher Collins syndrome: Correlation between molecular genetic findings and clinical severity.

Published in:

Clinical Genetics, 2023, v. 103, n. 2, p. 146, doi. 10.1111/cge.14243

By:

Ulhaq, Zulvikar Syambani;
Nurputra, Dian Kesumapramudya;
Soraya, Gita Vita;
Kurniawati, Siti;
Istifiani, Lola Ayu;
Pamungkas, Syafrizal Aji;
Tse, William Ka Fai

Publication type:

Article

Expanding allelic and phenotypic spectrum of ZC4H2‐related disorder: A novel hypomorphic variant and high prevalence of tethered cord.

Published in:

Clinical Genetics, 2023, v. 103, n. 2, p. 167, doi. 10.1111/cge.14248

By:

Wongkittichote, Parith;
Choi, Tae‐Ik;
Kim, Oc‐Hee;
Riley, Kacie;
Koeberl, Dwight;
Narayanan, Vinodh;
Ramsey, Keri;
Balak, Chris;
Schwartz, Charles E.;
Cueto‐Gonzalez, Anna Maria;
Casadesus, Francina Munell;
Kim, Cheol‐Hee;
Shinawi, Marwan S.

Publication type:

Article

Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype.

Published in:

Clinical Genetics, 2023, v. 103, n. 2, p. 156, doi. 10.1111/cge.14247

By:

Niceta, Marcello;
Pizzi, Simone;
Inzana, Francesca;
Peron, Angela;
Bakhtiari, Somayeh;
Nizon, Mathilde;
Levy, Jonathan;
Mancini, Cecilia;
Cogné, Benjamin;
Radio, Francesca Clementina;
Agolini, Emanuele;
Cocciadiferro, Dario;
Novelli, Antonio;
Salih, Mustafa A.;
Recalcati, Maria Paola;
Arancio, Rosangela;
Besnard, Marianne;
Tabet, Anne‐Claude;
Kruer, Michael C.;
Priolo, Manuela

Publication type:

Article

Immunotherapy responsive neuroinflammation in a child with FAS‐associated death‐domain mutation.

Published in:

Clinical Genetics, 2023, v. 103, n. 2, p. 252, doi. 10.1111/cge.14246

By:

Vogel, Benjamin;
Boyd, Natalie K.;
Kuo, Caroline Y.;
Kohn, Lisa A.;
Soldatos, Ariane;
Santoro, Jonathan D.

Publication type:

Article

Six case reports of NTHL1‐associated tumor syndrome further support it as a multi‐tumor predisposition syndrome.

Published in:

Clinical Genetics, 2023, v. 103, n. 2, p. 231, doi. 10.1111/cge.14242

By:

Weatherill, Chelsey B.;
Burke, Sarah A.;
Haskins, Carolyn G.;
Berry, Darcy K.;
Homer, Jeanne P.;
Demeure, Michael J.;
Darabi, Sourat

Publication type:

Article

A novel biallelic variant in the Popeye domain‐containing protein 1 (POPDC1) underlies limb girdle muscle dystrophy type 25.

Published in:

Clinical Genetics, 2023, v. 103, n. 2, p. 219, doi. 10.1111/cge.14238

By:

Mahmood, Arif;
Samad, Abdus;
Shah, Abid Ali;
Wadood, Abdul;
Alkathiri, Afnan;
Alshehri, Mohammed Ali;
Alam, Mohammad Zubair;
Hussain, Taimur;
He, Pei;
Umair, Muhammad

Publication type:

Article

Loss‐of‐function mutations in SGCE found in Japanese patients with myoclonus‐dystonia.

Published in:

Clinical Genetics, 2023, v. 103, n. 2, p. 209, doi. 10.1111/cge.14233

By:

Azuma, Kenko;
Horisawa, Shiro;
Mashimo, Hideaki;
Fukuda, Mitsumasa;
Kumada, Satoko;
Kawamata, Takakazu;
Taira, Takaomi;
Akagawa, Hiroyuki

Publication type:

Article

Risk of genetic and epigenetic alteration in children conceived following ART: Is it time to return to nature whenever possible?

Published in:

Clinical Genetics, 2023, v. 103, n. 2, p. 133, doi. 10.1111/cge.14232

By:

Sciorio, Romualdo;
Tramontano, Luca;
Rapalini, Erika;
Bellaminutti, Serena;
Bulletti, Francesco M.;
D'Amato, Antonio;
Manna, Claudio;
Palagiano, Antonio;
Bulletti, Carlo;
Esteves, Sandro C.

Publication type:

Article

Issue Information.

Published in:: Clinical Genetics, 2023, v. 103, n. 2, p. 131, doi. 10.1111/cge.14152
Publication type:: Article