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Application of various genetic analysis techniques for detecting two rare cases of 9p duplication mosaicism during prenatal diagnosis.
Published in:
2023
By:
- Zhang, Sufen;
- Zhou, Yuqiu;
- Xiao, Gefei;
- Qiu, Xianrong
Publication type:
Case Study
Systematic review on gene–sun exposure interactions in skin cancer.
Published in:
Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 10, p. 1, doi. 10.1002/mgg3.2259
By:
- Shraim, Rasha;
- Farran, Mohamed Ziad;
- He, George;
- Marunica Karsaj, Jelena;
- Zgaga, Lina;
- McManus, Ross
Publication type:
Article
Mutations obstructing ATP's emplacement in KIF2A nucleotide‐binding pocket causes parenchymal malformations, motor developmental delay, with intellectual disability.
Published in:
Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 10, p. 1, doi. 10.1002/mgg3.2225
By:
- Zhao, Xiuying;
- Chen, Tao;
- Fu, Binsha;
- Fu, Zhifu;
- Xu, Kaishou;
- Zhou, Wei
Publication type:
Article
Genome‐wide meta‐analyses identify five new risk loci for nonsyndromic orofacial clefts in the Chinese Han population.
Published in:
Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 10, p. 1, doi. 10.1002/mgg3.2226
By:
- Yu, Yafen;
- Zhen, Qi;
- Chen, Weiwei;
- Yu, Yanqin;
- Li, Zhuo;
- Wang, Yirui;
- Fan, Wencheng;
- Luo, Sihan;
- Wang, Daiyue;
- Bai, Yuanming;
- Bian, Zhuan;
- He, Miao;
- Sun, Liangdan
Publication type:
Article
MRI characteristics due to gene mutations in a Chinese pedigree with Lafora disease.
Published in:
Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 10, p. 1, doi. 10.1002/mgg3.2228
By:
- Sun, Yueqian;
- Zhou, Ziqi;
- Wang, Qun;
- Yan, Jing;
- Zhang, Zaiqiang;
- Cui, Tao
Publication type:
Article
11q13.3q13.4 deletion plus 9q21.13q21.33 duplication in an affected girl arising from a familial four‐way balanced chromosomal translocation.
Published in:
Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 10, p. 1, doi. 10.1002/mgg3.2248
By:
- Zhang, Qinxin;
- Wang, Yan;
- Zhou, Jing;
- Zhou, Ran;
- Liu, An;
- Meng, Lulu;
- Ji, Xiuqing;
- Hu, Ping;
- Xu, Zhengfeng
Publication type:
Article
RNA sequencing resolves novel DYNC2H1 variants causing short‐rib thoracic dysplasia type 3: Case report.
Published in:
Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 10, p. 1, doi. 10.1002/mgg3.2247
By:
- Marshall, Aren E.;
- MacDonald, Stella K.;
- Liang, Yijing;
- Couse, Madeline;
- Boycott, Kym M.;
- Richer, Julie;
- Kernohan, Kristin D.
Publication type:
Article
Clinically actionable secondary findings in 130 triads from sub‐Saharan African families with non‐syndromic orofacial clefts.
Published in:
Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 10, p. 1, doi. 10.1002/mgg3.2237
By:
- Oladayo, Abimbola;
- Gowans, Lord Jephthah Joojo;
- Awotoye, Waheed;
- Alade, Azeez;
- Busch, Tamara;
- Naicker, Thirona;
- Eshete, Mekonen A.;
- Adeyemo, Wasiu L.;
- Hetmanski, Jacqueline B.;
- Zeng, Erliang;
- Adamson, Olawale;
- Adeleke, Chinyere;
- Li, Mary;
- Sule, Veronica;
- Kayali, Sami;
- Olotu, Joy;
- Mossey, Peter A.;
- Obiri‐Yeboah, Solomon;
- Buxo, Carmen J.;
- Beaty, Terri
Publication type:
Article
Prenatal whole exome sequencing identified two rare compound heterozygous variants in EVC2 causing Ellis‐van Creveld syndrome.
Published in:
2023
By:
- Zhuang, Jianlong;
- Liu, Shufen;
- Wang, Junyu;
- Chen, Yu'e;
- Zhang, Hegan;
- Jiang, Yuying;
- Wang, Gaoxiong;
- Chen, Chunnuan
Publication type:
Case Study
Genetic screening of an endemic mutation in the DYSF gene in an isolated, mountainous population in the Republic of Dagestan.
Published in:
Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 10, p. 1, doi. 10.1002/mgg3.2236
By:
- Bardakov, Sergey N.;
- Deev, Roman V.;
- Isaev, Аrtur А.;
- Khromov‐Borisov, Nikita N.;
- Kopylov, Evgeniy D.;
- Savchuk, Мaria R.;
- Pushkin, Maxim S.;
- Presnyakov, Evgeniy V.;
- Magomedova, Raisat M.;
- Achmedova, Patimat G.;
- Umakhanova, Zoya R.;
- Kaimonov, Vladimir S.;
- Musatova, Elizaveta V.;
- Blagodatskikh, Konstantin А.;
- Tveleneva, Aleksandra А.;
- Sofronova, Yana V.;
- Yakovlev, Ivan A.
Publication type:
Article
The effect of a single SMARCA4 exon deletion on RNA splicing: Implications for variant classification.
Published in:
Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 10, p. 1, doi. 10.1002/mgg3.2232
By:
- Byrjalsen, Anna;
- Stoltze, Ulrik;
- Mehrjouy, Mana;
- Frederiksen, Jane Hübertz;
- Bak, Mads;
- Birkedal, Ulf;
- Hasle, Henrik;
- Gerdes, Anne‐Marie;
- Schmiegelow, Kjeld;
- Wadt, Karin;
- Hansen, Thomas van Overeem
Publication type:
Article
Exome sequencing findings in children with annular pancreas.
Published in:
Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 10, p. 1, doi. 10.1002/mgg3.2233
By:
- Pitsava, Georgia;
- Pankratz, Nathan;
- Lane, John;
- Yang, Wei;
- Rigler, Shannon;
- Shaw, Gary M.;
- Mills, James L.
Publication type:
Article
Issue Information.
Published in:
Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 10, p. 1, doi. 10.1002/mgg3.1982
Publication type:
Article
Clinical report and genetic analysis of a neonate with genitourinary and/or brain malformation syndrome caused by a non‐coding sequence variant of PPP1R12A.
Published in:
Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 10, p. 1, doi. 10.1002/mgg3.2223
By:
- Diao, Yanxia;
- Sun, Weiwei;
- Zhang, Zhen;
- Zhao, Bing;
- Chen, Xin
Publication type:
Article
Bedtime extended release cornstarch improves biochemical profile and sleep quality for patients with glycogen storage disease type Ia.
Published in:
Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 10, p. 1, doi. 10.1002/mgg3.2221
By:
- Hsu, Rai‐Hseng;
- Chen, Hui‐An;
- Chien, Yin‐Hsiu;
- Hwu, Wuh‐Liang;
- Lin, Ju‐Li;
- Weng, Hui‐Ling;
- Lin, Yi‐Ting;
- Lin, Yu‐Ching;
- Lee, Ni‐Chung
Publication type:
Article
Molecular characterization of phenylketonuria patients from the North Region of Brazil: State of Pará.
Published in:
Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 10, p. 1, doi. 10.1002/mgg3.2224
By:
- Bonfim‐Freitas, Pedro E.;
- Andrade, Roseani S.;
- Ribeiro‐dos‐Santos, Ândrea K.;
- Silva, Luiz C. Santana‐da
Publication type:
Article

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