Search: '"American Journal of Human Genetics"'

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Expression and population studies of the TATA-box binding protein polyglutamine region at normal and expanded lengths. / Suzanne Reid, Lesley Jones, Marcy MacDonald, Greg Sutherland, Mike Owen, et al

Swansea University Author: Mark Rees
Published in AMERICAN JOURNAL OF HUMAN GENETICS (2001)
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Swansea University Author: Mark Rees
Published in AMERICAN JOURNAL OF HUMAN GENETICS (2001)
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Journal article


Swansea University Author: Mark Rees
Published in American Journal of Human Genetics (2000)
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Journal article


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De Novo Mutations in the Beta-Tubulin Gene TUBB2A Cause Simplified Gyral Patterning and Infantile-Onset Epilepsy / Thomas D. Cushion, Alex R. Paciorkowski, Daniela T. Pilz, Jonathan G.L. Mullins, Laurie E. Seltzer, et al

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Swansea University Author: Mark Rees
Published in American Journal of Human Genetics (2000)
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Journal article

De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies / Candace T. Myers, Jacinta M. McMahon, Amy L. Schneider, Slavé Petrovski, Andrew S. Allen, et al

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Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy / Andrew E. Fry, Christopher Marra, Johann te Water Naude, Martin A. McClatchey, Sally J. Davies, et al

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Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals / Yen-Chen Anne Feng, Daniel P. Howrigan, Liam E. Abbott, Katherine Tashman, Felecia Cerrato, et al

Swansea University Authors: Robert Powell, Owen Pickrell
Published in The American Journal of Human Genetics (2019)
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Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals / Joshua E. Motelow, Gundula Povysil, Ryan S. Dhindsa, Kate E. Stanley, Andrew S. Allen, et al

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A founder event causing a dominant childhood epilepsy survives 800 years through weak selective pressure / Bronwyn E. Grinton, Erandee Robertson, Liam G. Fearnley, Ingrid E. Scheffer, Anthony G. Marson, et al

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Germline MBD4 deficiency causes a multi-tumor predisposition syndrome / Claire Palles, Hannah D. West, Edward Chew, Sara Galavotti, Christoffer Flensburg, et al

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Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder / Stephanie Efthymiou, Cailyn P Leo, Chenghong Deng, Sheng-Jia Lin, Reza Maroofian, et al

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