Molecular Genetics & Genomic Medicine

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Mol Genet Genomic Med, Molecular genetics and genomic medicine

2.8K

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31.5K

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Molecular Genetics & Genomic Medicine is a journal.

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Molecular Genetics & Genomic Medicine

2.8K

Publications

31.5K

Citations

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Page 1

	Year	Citations
The allelic spectrum of Charcot–Marie–Tooth disease in over 17,000 individuals with neuropathy Christina DiVincenzo, Christopher Elzinga, Adam C. Medeiros, Molecular Genetics & Genomic Medicine	2014	187
Genetic contributions to stuttering: the current evidence Carlos Eduardo Frigério Domingues, Dennis Drayna Molecular Genetics & Genomic Medicine Genetic ContributionsDevelopmental BiologyHealth SciencesMendelian DisorderGenetic Disorder	2017	126
Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness Elizabeth E. Palmer, Deborah Schofield, Rupendra Shrestha, Molecular Genetics & Genomic Medicine	2018	109
Phenotypic characteristics of the p.Asn215Ser (p.N215S) <i>G<scp>LA</scp></i> mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study Dominique P. Germain, Eva Brand, Alessandro P. Burlina, Molecular Genetics & Genomic Medicine	2018	108
A multidisciplinary approach to the clinical management of Prader–Willi syndrome Jessica Duis, Pieter Joost van Wattum, Ann Scheimann, Molecular Genetics & Genomic Medicine	2019	105
Effects of consanguinity in a cohort of subjects with certain genetic disorders in Qatar Tawfeg Ben‐Omran, Kaltham Al-Ghanim, Tarunashree Yavarna, Molecular Genetics & Genomic Medicine	2019	100
Whole exome sequencing reveals mutations in<i>NARS2</i>and<i>PARS2</i>, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome Kalliopi Sofou, Gittan Kollberg, Maria Holmström, Molecular Genetics & Genomic Medicine	2014	100
Taurodontism, variations in tooth number, and misshapened crowns in<i>Wnt10a</i>null mice and human kindreds Jie Yang, Shih‐Kai Wang, Murim Choi, Molecular Genetics & Genomic Medicine	2014	95
Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center Christina Gerth‐Kahlert, Kathleen A. Williamson, Morad Ansari, Molecular Genetics & Genomic Medicine	2013	92
Exome sequencing identifies <i><scp>NFS</scp>1</i> deficiency in a novel Fe‐S cluster disease, infantile mitochondrial complex <scp>II</scp>/<scp>III</scp> deficiency Sali M.K. Farhan, Jian Wang, John F. Robinson, Molecular Genetics & Genomic Medicine	2013	91

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