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Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease.
Published in:
Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 4, p. 1, doi. 10.1002/mgg3.1892
By:
- Borja, Nicholas;
- Bivona, Stephanie;
- Peart, Lé Shon;
- Johnson, Brittany;
- Gonzalez, Joanna;
- Barbouth, Deborah;
- Moore, Henry;
- Guo, Shengru;
- Bademci, Guney;
- Tekin, Mustafa;
- Acosta, Maria T.;
- Adam, Margaret;
- Adams, David R.;
- Agrawal, Pankaj B.;
- Alejandro, Mercedes E.;
- Alvey, Justin;
- Amendola, Laura;
- Andrews, Ashley;
- Ashley, Euan A.;
- Azamian, Mahshid S.
Publication type:
Article
MPZ gene variant site in Chinese patients with Charcot–Marie–Tooth disease.
Published in:
Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 4, p. 1, doi. 10.1002/mgg3.1890
By:
- Hao, Xiaoyan;
- Li, Chong;
- Lv, Yunguo;
- Zhou, Tongtong;
- Tian, Hao;
- Ma, Yaru;
- Ding, Jiangwei;
- Li, Xinxiao;
- Wang, Yangyang;
- Wang, Lei;
- Yang, Ping
Publication type:
Article
Cover.
Published in:
Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 4, p. 1, doi. 10.1002/mgg3.1956
By:
- Verdi, Giavanna;
- Li, Dong;
- Elsea, Sarah H.;
- Nelson, Beverly;
- Bhoj, Elizabeth J.;
- Hakonarson, Hakon;
- Yearwood, Katherine R.;
- Upadhya, Sharmila;
- Gluschitz, Sarah;
- Smith, Janice L.;
- Sobering, Andrew K.
Publication type:
Article
Adult‐onset Niemann–Pick disease type C masquerading as spinocerebellar ataxia.
Published in:
Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 4, p. 1, doi. 10.1002/mgg3.1906
By:
- Vo, Mary L.;
- Levy, Tess;
- Lakhani, Shenela;
- Wang, Chengbing;
- Ross, M. Elizabeth
Publication type:
Article
Identification of a novel ANK1 mutation in hereditary spherocytosis co‐existing with BWS.
Published in:
Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 4, p. 1, doi. 10.1002/mgg3.1903
By:
- Zhang, Qinghua;
- Zhang, Chuan;
- Wang, Yupei;
- Hao, Shengjv;
- Shi, Jingyun;
- Feng, Xuan;
- Zheng, Lei;
- Wang, Xin;
- Xue, Chen;
- Zhou, Bingbo;
- Liu, Furong;
- Zhao, Fangping;
- Li, Xuetao;
- Deng, Liangyuan;
- Hou, Jun;
- Meng, Zhaoyan
Publication type:
Article
A novel FAM83H variant causes familial amelogenesis imperfecta with incomplete penetrance.
Published in:
Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 4, p. 1, doi. 10.1002/mgg3.1902
By:
- Bai, Rui‐Qi;
- He, Wen‐Bin;
- Peng, Qian;
- Shen, Su‐Hui;
- Yu, Qian‐Qian;
- Du, Juan;
- Tan, Yue‐Qiu;
- Wang, Yue‐Hong;
- Liu, Bin‐Jie
Publication type:
Article
Phenotypic variability of syndromic craniosynostosis caused by c.833G > T in FGFR2: Clinical and genetic evaluation of eight patients from a five‐generation family.
Published in:
Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 4, p. 1, doi. 10.1002/mgg3.1901
By:
- Wei, Xianda;
- Huang, Guori;
- Gui, Baoheng;
- Xie, Bobo;
- Chen, Shaoke;
- Fan, Xin;
- Chen, Yujun
Publication type:
Article
A novel unbalanced translocation between chromosomes 5p and 18q leading to dysmorphology and global developmental delay.
Published in:
2022
By:
- Verdi, Giavanna;
- Li, Dong;
- Elsea, Sarah H.;
- Nelson, Beverly;
- Bhoj, Elizabeth J.;
- Hakonarson, Hakon;
- Yearwood, Katherine R.;
- Upadhya, Sharmila;
- Gluschitz, Sarah;
- Smith, Janice L.;
- Sobering, Andrew K.
Publication type:
Case Study
FINCA syndrome—Defining neurobehavioral phenotype in survivors into late childhood.
Published in:
Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 4, p. 1, doi. 10.1002/mgg3.1899
By:
- Badura‐Stronka, Magdalena;
- Śmigiel, Robert;
- Rutkowska, Karolina;
- Szymańska, Krystyna;
- Hirschfeld, Adam Sebastian;
- Monkiewicz, Michał;
- Kosińska, Joanna;
- Wolańska, Ewelina;
- Rydzanicz, Małgorzata;
- Latos‐Bieleńska, Anna;
- Płoski, Rafał
Publication type:
Article
Rare hypomagnesemia, seizures, and mental retardation in a 4‐month‐old patient caused by novel CNNM2 mutation Tyr189Cys: Genetic analysis and review.
Published in:
2022
By:
- Xu, Xiaoyan;
- Hou, Shu;
- Sun, Weiwei;
- Zhu, Jing;
- Yuan, Jinjing;
- Cui, Zhenzhen;
- Wu, De;
- Tang, Jiulai
Publication type:
Case Study
The clinical utility of a risk‐modifying SNP to detect carriers for spinal muscular atrophy with increased sensitivity.
Published in:
Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 4, p. 1, doi. 10.1002/mgg3.1897
By:
- Ware, Gardenier;
- Miller, Cecelia;
- Jones, Dan;
- Avenarius, Matthew
Publication type:
Article
Multivariate, region‐based genetic analyses of facets of reproductive aging in White and Black women.
Published in:
Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 4, p. 1, doi. 10.1002/mgg3.1896
By:
- Bielak, Lawrence F.;
- Peyser, Patricia A.;
- Smith, Jennifer A.;
- Zhao, Wei;
- Ruiz‐Narvaez, Edward A.;
- Kardia, Sharon L. R.;
- Harlow, Sioban D.
Publication type:
Article
Two nonsense GLI3 variants are associated with polydactyly and syndactyly in two families by affecting the sonic hedgehog signaling pathway.
Published in:
Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 4, p. 1, doi. 10.1002/mgg3.1895
By:
- Shen, Xiaofang;
- Zhang, Shun;
- Zhang, Xin;
- Zhou, Taifeng;
- Rui, Yongjun
Publication type:
Article
Phenotype and genotype spectrum of variants in guanine nucleotide exchange factor genes in a broad cohort of Iranian patients.
Published in:
Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 4, p. 1, doi. 10.1002/mgg3.1894
By:
- Mosallaei, Meysam;
- Ehtesham, Naeim;
- Beheshtian, Maryam;
- Khoshbakht, Shahrouz;
- Davarnia, Behzad;
- Kahrizi, Kimia;
- Najmabadi, Hossein
Publication type:
Article
Genetic analysis and clinical significance of a rare t(1;12)(q21;p13) in a patient with high‐risk myelodysplastic syndrome.
Published in:
2022
By:
- Fang, Fang;
- Jia, Ru;
- Liu, Congyan;
- Zhao, Hong;
- Sun, Wanling
Publication type:
Case Study
Comprehensive variant calling from whole‐genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia.
Published in:
Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 4, p. 1, doi. 10.1002/mgg3.1888
By:
- Nicholas, Thomas J.;
- Al‐Sweel, Najla;
- Farrell, Andrew;
- Mao, Rong;
- Bayrak‐Toydemir, Pinar;
- Miller, Christine E.;
- Bentley, Dawn;
- Palmquist, Rachel;
- Moore, Barry;
- Hernandez, Edgar J.;
- Cormier, Michael J.;
- Fredrickson, Eric;
- Noble, Katherine;
- Rynearson, Shawn;
- Holt, Carson;
- Karren, Mary Anne;
- Bonkowsky, Joshua L.;
- Tristani‐Firouzi, Martin;
- Yandell, Mark;
- Marth, Gabor
Publication type:
Article
Experiences of children and adolescents living with achondroplasia and their caregivers.
Published in:
Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 4, p. 1, doi. 10.1002/mgg3.1891
By:
- Shediac, Renée;
- Moshkovich, Olga;
- Gerould, Heather;
- Ballinger, Rachel;
- Williams, Agnes;
- Bellenger, M. Alex;
- Quinn, Jennifer;
- Hoover‐Fong, Julie;
- Mohnike, Klaus;
- Savarirayan, Ravi;
- Kelly, Dominique
Publication type:
Article
Autosomal recessive monilethrix: Novel variants of the DSG4 gene in three Chinese families.
Published in:
Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 4, p. 1, doi. 10.1002/mgg3.1889
By:
- Zhou, Cheng;
- Wang, Pei;
- Yang, Dingquan;
- Liao, Wenjun;
- Guo, Qing;
- Li, Jiacheng;
- Wen, Guangdong;
- Zheng, Shuying;
- Zhang, Xue;
- Wang, Rongrong;
- Zhang, Jianzhong
Publication type:
Article
A novel variant in UBE3A in a family with multigenerational intellectual disability and developmental delay.
Published in:
Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 4, p. 1, doi. 10.1002/mgg3.1883
By:
- Zhao, Xuechao;
- Zheng, Yuting;
- Wang, Li;
- Wang, Yanhong;
- Mei, Shiyue;
- Kong, Xiangdong
Publication type:
Article
Report of rare and novel mutations in candidate genes in a cohort of hearing‐impaired patients.
Published in:
Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 4, p. 1, doi. 10.1002/mgg3.1887
By:
- Liu, Min;
- Liang, Yue;
- Huang, Bixue;
- Sun, Jincangjian;
- Chen, Kaitian
Publication type:
Article
Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants.
Published in:
Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 4, p. 1, doi. 10.1002/mgg3.1880
By:
- Frisk, Sofia;
- Wachtmeister, Alexandra;
- Laurell, Tobias;
- Lindstrand, Anna;
- Jäntti, Nina;
- Malmgren, Helena;
- Lagerstedt‐Robinson, Kristina;
- Tesi, Bianca;
- Taylan, Fulya;
- Nordgren, Ann
Publication type:
Article
Issue Information.
Published in:
Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 4, p. 1, doi. 10.1002/mgg3.1715
Publication type:
Article

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