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Copy number variations in a Brazilian cohort with autism spectrum disorders highlight the contribution of cell adhesion genes.
Published in:
Clinical Genetics, 2022, v. 101, n. 1, p. 134, doi. 10.1111/cge.14072
By:
- Costa, Claudia Ismania Samogy;
- da Silva Montenegro, Eduarda Morgana;
- Zarrei, Mehdi;
- de Sá Moreira, Eloísa;
- Silva, Isabela Maya Wahys;
- de Oliveira Scliar, Marília;
- Wang, Jaqueline Yu Ting;
- Zachi, Elaine Cristina;
- Branco, Elisa Varella;
- da Costa, Silvia Souza;
- Lourenço, Naila Cristina Vilaça;
- Vianna‐Morgante, Angela Maria;
- Rosenberg, Carla;
- Krepischi, Ana Cristina Victorino;
- Scherer, Stephen W.;
- Passos‐Bueno, Maria Rita
Publication type:
Article
In silico genome‐wide gene‐based association analysis reveals new genes predisposing to coronary artery disease.
Published in:
Clinical Genetics, 2022, v. 101, n. 1, p. 78, doi. 10.1111/cge.14073
By:
- Zorkoltseva, Irina;
- Shadrina, Alexandra;
- Belonogova, Nadezhda;
- Kirichenko, Anatoly;
- Tsepilov, Yakov;
- Axenovich, Tatiana
Publication type:
Article
Kosaki overgrowth syndrome due to a novel de novo PDGFRB variant.
Published in:
Clinical Genetics, 2022, v. 101, n. 1, p. 144, doi. 10.1111/cge.14078
By:
- Hernández Dorronsoro, Unai;
- Gawlinski, Pawel;
- Lasa‐Aranzasti, Amaia;
- Martínez‐Soroa, Itziar;
- Artola Aizalde, Elena;
- Saez Villaverde, Raquel;
- Aguirre Rodríguez, Cristina;
- Satrustegi Aritziturri, Miren
Publication type:
Article
Genetic and metabolic profiling of individuals with Phelan‐McDermid syndrome presenting with seizures.
Published in:
Clinical Genetics, 2022, v. 101, n. 1, p. 87, doi. 10.1111/cge.14074
By:
- Jain, Lavanya;
- Oberman, Lindsay M.;
- Beamer, Laura;
- Cascio, Lauren;
- May, Melanie;
- Srikanth, Sujata;
- Skinner, Cindy;
- Jones, Kelly;
- Allen, Bridgette;
- Rogers, Curtis;
- Phelan, Katy;
- Kaufmann, Walter E.;
- DuPont, Barbara;
- Sarasua, Sara M.;
- Boccuto, Luigi
Publication type:
Article
Use of medical exome sequencing for identification of underlying genetic defects in NICU: Experience in a cohort of 2303 neonates in China.
Published in:
Clinical Genetics, 2022, v. 101, n. 1, p. 101, doi. 10.1111/cge.14075
By:
- Yang, Lin;
- Wei, Zejun;
- Chen, Xiang;
- Hu, Liyuan;
- Peng, Xiaomin;
- Wang, Jin;
- Lu, Chunmei;
- Kong, Yanting;
- Dong, Xinran;
- Ni, Qi;
- Lu, Yulan;
- Wu, Bingbing;
- Wang, Huijun;
- Meirelles, Katia;
- Tian, Xia;
- Zhang, Jing;
- Chang, Fengqi;
- Liu, Liu;
- Li, Changhua;
- You, Wesley
Publication type:
Article
Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects.
Published in:
Clinical Genetics, 2022, v. 101, n. 1, p. 127, doi. 10.1111/cge.14071
By:
- Pagnamenta, Alistair T.;
- Jackson, Adam;
- Perveen, Rahat;
- Beaman, Glenda;
- Petts, Gemma;
- Gupta, Asheeta;
- Hyder, Zerin;
- Chung, Brian Hon‐Yin;
- Kan, Anita Sik‐Yau;
- Cheung, Ka Wang;
- Kerstjens‐Frederikse, Wilhelmina S.;
- Abbott, Kristin M.;
- Elpeleg, Orly;
- Taylor, Jenny C.;
- Banka, Siddharth;
- Ta‐Shma, Asaf
Publication type:
Article
Prenatal exome sequencing: A useful tool for the fetal neurologist.
Published in:
Clinical Genetics, 2022, v. 101, n. 1, p. 65, doi. 10.1111/cge.14070
By:
- de Koning, Maayke A.;
- Hoffer, Mariëtte J. V.;
- Nibbeling, Esther A. R.;
- Bijlsma, Emilia K.;
- Toirkens, Menno J. P.;
- Adama‐Scheltema, Phebe N.;
- Verweij, E. Joanne;
- Veenhof, Marieke B.;
- Santen, Gijs W. E.;
- Peeters‐Scholte, Cacha M. P. C. D.
Publication type:
Article
A homozygous loss‐of‐function mutation in FBXO43 causes human non‐obstructive azoospermia.
Published in:
Clinical Genetics, 2022, v. 101, n. 1, p. 55, doi. 10.1111/cge.14069
By:
- Wu, Huan;
- Zhang, Xin;
- Shen, Qunshan;
- Liu, Yiyuan;
- Gao, Yang;
- Wang, Guanxiong;
- Lv, Mingrong;
- Hua, Rong;
- Xu, Yuping;
- Zhou, Ping;
- Wei, Zhaolian;
- Tao, Fangbiao;
- He, Xiaojin;
- Cao, Yunxia;
- Liu, Mingxi
Publication type:
Article
Dominant‐negative pathogenic variant BRIP1 c.1045G>C is a high‐risk allele for non‐mucinous epithelial ovarian cancer: A case‐control study.
Published in:
Clinical Genetics, 2022, v. 101, n. 1, p. 48, doi. 10.1111/cge.14068
By:
- Flaum, Nicola;
- van Veen, Elke M.;
- Smith, Olivia;
- Amico, Stephanie;
- Newman, William G.;
- Crosbie, Emma J.;
- Edmondson, Richard;
- Smith, Miriam J.;
- Evans, D. Gareth
Publication type:
Article
RNF43 pathogenic Germline variant in a family with colorectal cancer.
Published in:
Clinical Genetics, 2022, v. 101, n. 1, p. 122, doi. 10.1111/cge.14064
By:
- Mikaeel, Reger R.;
- Young, Joanne P.;
- Li, Yun;
- Poplawski, Nicola K.;
- Smith, Eric;
- Horsnell, Mehgan;
- Uylaki, Wendy;
- Tomita, Yoko;
- Townsend, Amanda R.;
- Feng, Jinghua;
- Zibat, Arne;
- Kaulfuß, Silke;
- Müller, Christian;
- Yigit, Gökhan;
- Wollnik, Bernd;
- Scott, Hamish;
- Rawlings, Lesley;
- Henry, Denae;
- Vakulin, Cassandra;
- Dubowsky, Andrew
Publication type:
Article
Identification and molecular analysis of 17 novel variants of hydroxymethylbilane synthase in Chinese patients with acute intermittent porphyria.
Published in:
Clinical Genetics, 2022, v. 101, n. 1, p. 116, doi. 10.1111/cge.14063
By:
- Hu, Yuanxiang;
- Li, Weihao;
- Kang, Ninglin;
- Ma, Liyan;
- Teng, Qing;
- Mo, Guiling;
- Wu, Jiahong;
- Wang, Xinyang;
- Bi, Renjie;
- Zhang, Songyun
Publication type:
Article
The clinical efficacy and safety of anti‐IgE therapy in recessive dystrophic epidermolysis bullosa.
Published in:
Clinical Genetics, 2022, v. 101, n. 1, p. 110, doi. 10.1111/cge.14062
By:
- Chen, Fuying;
- Guo, Yifeng;
- Zhou, Kaili;
- Deng, Dan;
- Yue, Wanbo;
- Yang, Weiqin;
- Zhang, Beibei;
- Li, Yue;
- Liang, Jianying;
- Li, Ming;
- Yao, Zhirong
Publication type:
Article
HK1 haemolytic anaemia in association with a neurological phenotype and co‐existing CEP290 Meckel–Gruber in a Romani family.
Published in:
Clinical Genetics, 2022, v. 101, n. 1, p. 142, doi. 10.1111/cge.14058
By:
- Sasaki, Erina;
- Phelan, Ethna;
- O'Regan, Mary;
- Kassim, Abdul Halim;
- Miletin, Jan;
- McMahon, Corrina;
- O'Sullivan, Maureen J.;
- Baptista, Julia;
- Lynch, Sally Ann
Publication type:
Article
A standard of care for individuals with PIK3CA‐related disorders: An international expert consensus statement.
Published in:
Clinical Genetics, 2022, v. 101, n. 1, p. 32, doi. 10.1111/cge.14027
By:
- Douzgou, Sofia;
- Rawson, Myfanwy;
- Baselga, Eulalia;
- Danielpour, Moise;
- Faivre, Laurence;
- Kashanian, Alon;
- Keppler‐Noreuil, Kim M.;
- Kuentz, Paul;
- Mancini, Grazia M. S.;
- Maniere, Marie‐Cecile;
- Martinez‐Glez, Victor;
- Parker, Victoria E.;
- Semple, Robert K.;
- Srivastava, Siddharth;
- Vabres, Pierre;
- De Wit, Marie‐Claire Y.;
- Graham, John M.;
- Clayton‐Smith, Jill;
- Mirzaa, Ghayda M.;
- Biesecker, Leslie G.
Publication type:
Article
Hypermobile Ehlers–Danlos syndrome: A review and a critical appraisal of published genetic research to date.
Published in:
Clinical Genetics, 2022, v. 101, n. 1, p. 20, doi. 10.1111/cge.14026
By:
- Scicluna, Kirsty;
- Formosa, Melissa M.;
- Farrugia, Rosienne;
- Borg, Isabella
Publication type:
Article
"I have to start learning how to live with becoming sick": A scoping review of the lived experiences of people with Huntington's disease.
Published in:
Clinical Genetics, 2022, v. 101, n. 1, p. 3, doi. 10.1111/cge.14024
By:
- Mahmood, Saadia;
- Law, Susan;
- Bombard, Yvonne
Publication type:
Article
Issue Information.
Published in:
Clinical Genetics, 2022, v. 101, n. 1, p. 1, doi. 10.1111/cge.13981
Publication type:
Article

Found: 17