D. Walsh

Most-cited papers

1. Germline FH mutations presenting with pheochromocytoma.

   Graeme Clark, M. Sciacovelli, E. Gaude, D. Walsh +9 more

   2014Journal of Clinical Endocrinology and Metabolism173 citations Open access

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2. Profiling of Somatic Mutations in Phaeochromocytoma and Paraganglioma by Targeted Next Generation Sequencing Analysis

   A. Luchetti, D. Walsh, Fay Rodger, Graeme Clark +11 more

   2015International Journal of Endocrinology76 citations Open access

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3. PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins

   Emma A. Hall, M. Nahorski, Lyndsay M. Murray, R. Shaheen +31 more

   2017American Journal of Human Genetics40 citations Open access

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4. Acrocallosal syndrome: identification of a novel KIF7 mutation and evidence for oligogenic inheritance.

   D. Walsh, S. Shalev, M. Simpson, N. Morgan +4 more

   2013European Journal of Medical Genetics28 citations Open access

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5. Evidence that autosomal recessive spastic cerebral palsy-1 (CPSQ1) is caused by a missense variant in HPDL

   N. Morgan, B. Yngvadottir, M. O'Driscoll, Graeme Clark +6 more

   2020Brain Communications18 citations Open access

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6. A Novel ABCA12 Mutation in Two Families with Congenital Ichthyosis

   D. Walsh, S. Shah, M. Simpson, Neil V. Morgan +4 more

   2012Scientifica7 citations Open access

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7. Mutations in PLAA cause a lethal infantile epileptic encephalopathy by disrupting ubiquitin-mediated endolysosomal degradation of synaptic proteins

   Emma A. Hall, M. Nahorski, Lyndsay M. Murray, R. Shaheen +34 more

   20171 citations

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8. Exome sequencing and human disease : the molecular characterisation of genetic disorders

   D. Walsh

   20160 citations

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9. The Role of Acetylation in the Non-Homologous End Joining Pathway

   D. Walsh

   20110 citations

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10. Project 1: The role of acetylation in the non-homologous end joining pathway & Project 2: The identification of human disease genes through the use of exome sequencing

    D. Walsh

    20110 citations

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11. Informativity of Wiskott-Aldrich syndrome ( WAS ) gene linked marker at locus DXS 6940 in different ethnic groups

    Thompson, D. Walsh, Knisley

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