Works in Molecular Genetics & Genomic Medicine, 2022, Vol 10, Issue 10

Results: 21

A review of causal discovery methods for molecular network analysis.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 10, p. 1, doi. 10.1002/mgg3.2055

By:

Kelly, Jack;
Berzuini, Carlo;
Keavney, Bernard;
Tomaszewski, Maciej;
Guo, Hui

Publication type:

Article

Epidemiological and molecular study of hemoglobinopathies in Mauritanian patients.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 10, p. 1, doi. 10.1002/mgg3.2048

By:

Mahmoud, Taher;
Sahli, Chaima;
Hadj Fredj, Sondess;
Amri, Yessine;
Othmani, Rim;
Mohamed, Ghaber S.;
Zein, Ekhtelbenina;
Messaoud, Taieb

Publication type:

Article

Mutation analysis in patients with nonsyndromic tooth agenesis using exome sequencing.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 10, p. 1, doi. 10.1002/mgg3.2045

By:

Yue, Haitang;
Liang, Jia;
Song, Guangtai;
Cheng, Jing;
Li, Jiahui;
Zhi, Yusheng;
Bian, Zhuan;
He, Miao

Publication type:

Article

JAK2 rs10974944 is associated with both V617F‐positive and negative myeloproliferative neoplasms in a Vietnamese population: A potential genetic marker.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 10, p. 1, doi. 10.1002/mgg3.2044

By:

Ngoc, Nguyen Thy;
Hau, Bui Bich;
Vuong, Nguyen Ba;
Xuan, Nguyen Thi

Publication type:

Article

Clinical characteristics of 10 Chinese patients with melorheostosis and identification of a somatic MAP2K1 variant in one case.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 10, p. 1, doi. 10.1002/mgg3.2043

By:

Han, Xiaojun;
Xu, Yang;
Wei, Zhanying;
Wang, Chun;
Yue, Hua;
Zhang, Zhenlin

Publication type:

Article

Identification and genetic analysis of rare variants in myosin family genes in 412 Han Chinese congenital heart disease patients.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 10, p. 1, doi. 10.1002/mgg3.2041

By:

Zhang, Yunqian;
Peng, Rui;
Wang, Hongyan

Publication type:

Article

A novel heterozygous ERCC6 variant identified in a Chinese family with non‐syndromic primary ovarian insufficiency.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 10, p. 1, doi. 10.1002/mgg3.2040

By:

Kuang, Lele;
Liu, Bin;
Xi, Di;
Gao, Yuping

Publication type:

Article

A homozygous variant of WDR45B results in global developmental delay: Additional case and literature review.

Published in:

2022

By:

Zhang, Jinhong;
Lu, Yan;
Tian, Xiaoyu;
Men, Xinyi;
Zhang, Yange;
Yan, Huifang;
Yang, Fan;
Yang, Zuozhen;
Wang, Xiuxia

Publication type:

Case Study

Sleep and Phelan–McDermid Syndrome: Lessons from the International Registry and the scientific literature.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 10, p. 1, doi. 10.1002/mgg3.2035

By:

Moffitt, Bridgette A.;
Sarasua, Sara M.;
Ward, Linda;
Ivankovic, Diana;
Valentine, Kathleen;
Rogers, Curtis;
Phelan, Katy;
Boccuto, Luigi

Publication type:

Article

X‐linked mental retardation‐hypotonic facies syndrome: Exome sequencing identifies novel clinical characteristics associated with c.5182G>C mutation in the ATRX gene.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 10, p. 1, doi. 10.1002/mgg3.2034

By:

Shakarami, Fatemeh;
Jahani, Mehdi;
Nouri, Zahra;
Tabatabaiefar, Mohammad Amin

Publication type:

Article

Report of two pedigrees with heterozygous HTRA1 variants‐related cerebral small vessel disease and literature review.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 10, p. 1, doi. 10.1002/mgg3.2032

By:

Zhou, Hui;
Jiao, Bin;
Ouyang, Ziyu;
Wu, Qihui;
Shen, Lu;
Fang, Liangjuan

Publication type:

Article

Risk‐reducing mastectomy decisions among women with mutations in high‐ and moderate‐ penetrance breast cancer susceptibility genes.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 10, p. 1, doi. 10.1002/mgg3.2031

By:

Comeaux, Jacob G.;
Culver, Julie O.;
Lee, John E.;
Dondanville, Danielle;
McArthur, Heather L.;
Quinn, Emily;
Gorman, Nicholas;
Ricker, Charité;
Li, Ming;
Lerman, Caryn

Publication type:

Article

Detection of pericentric inversion with breakpoint in DMD by whole genome sequencing.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 10, p. 1, doi. 10.1002/mgg3.2028

By:

Zaum, Ann‐Kathrin;
Nanda, Indrajit;
Kress, Wolfram;
Rost, Simone

Publication type:

Article

Elucidation of repeat motifs R1‐ and R2‐related TRIOBP variants in autosomal recessive nonsyndromic hearing loss DFNB28 among indigenous South African individuals.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 10, p. 1, doi. 10.1002/mgg3.2015

By:

Kabahuma, Rosemary Ida;
Schubert, Wolf‐Dieter;
Labuschagne, Christiaan;
Yan, Denise;
Pepper, Michael Sean;
Liu, Xue‐Zhong

Publication type:

Article

A novel CLCNKB variant in a Chinese family with classic Bartter syndrome and prenatal genetic diagnosis.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 10, p. 1, doi. 10.1002/mgg3.2027

By:

Zhao, Qianying;
Xiang, Qinqin;
Tan, Yu;
Xiao, Xiao;
Xie, Hanbing;
Wang, He;
Yang, Mei;
Liu, Shanling

Publication type:

Article

HPDL mutations identified by exome sequencing are associated with infant neurodevelopmental disorders.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 10, p. 1, doi. 10.1002/mgg3.2025

By:

Wang, Yanhong;
Zheng, Xuan;
Feng, Chao;
Fan, Xiaoge;
Liu, Lei;
Guo, Pengbo;
Lei, Zhi;
Mei, Shiyue

Publication type:

Article

Pyridoxine‐responsive KCNQ2 epileptic encephalopathy: Additional cases and literature review.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 10, p. 1, doi. 10.1002/mgg3.2024

By:

Chen, Jun;
Tao, Qiuji;
Fan, Lijuan;
Shen, Yajun;
Liu, Jinfeng;
Luo, Huan;
Yang, Zuozhen;
Liang, Mengmeng;
Gan, Jing

Publication type:

Article

Diagnostic yield of candidate genes in an Australian corneal dystrophy cohort.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 10, p. 1, doi. 10.1002/mgg3.2023

By:

Souzeau, Emmanuelle;
Siggs, Owen M.;
Mullany, Sean;
Schmidt, Joshua M.;
Hassall, Mark M.;
Dubowsky, Andrew;
Chappell, Angela;
Breen, James;
Bae, Haae;
Nicholl, Jillian;
Hadler, Johanna;
Kearns, Lisa S.;
Staffieri, Sandra E.;
Hewitt, Alex W.;
Mackey, David A.;
Gupta, Aanchal;
Burdon, Kathryn P.;
Klebe, Sonja;
Craig, Jamie E.;
Mills, Richard A.

Publication type:

Article

Atypical presentation of Angelman syndrome with intact expressive language due to low‐level mosaicism.

Published in:

2022

By:

Punatar, Ruchi;
Egense, Alena;
Mao, Rong;
Procter, Melinda;
Bosworth, Michelle;
Quigley, Denise I.;
Angkustsiri, Kathleen;
Shankar, Suma P.

Publication type:

Case Study

Pain triangle phenomenon in possible association with SCN9A: A case report.

Published in:

2022

By:

Sopacua, Maurice;
Hoeijmakers, Janneke G. J.;
van der Kooi, Anneke J.;
Merkies, Ingemar S. J.;
Faber, Catharina G.

Publication type:

Case Study

Issue Information.

Published in:: Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 10, p. 1, doi. 10.1002/mgg3.1721
Publication type:: Article