ResearcherID Thomson Reuters  

Lockhart, Paul J
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ResearcherID: E-7753-2011
URL: http://www.researcherid.com/rid/E-7753-2011
Subject: Genetics & Heredity; Neurosciences & Neurology
ORCID: http://orcid.org/0000-0003-2531-8413
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This list contains papers that I have authored.

publication(s)  
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1.  Title: Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy.
 Author(s): Walsh, Maie; Bell, Katrina M; Chong, Belinda; et al.
 Source: Annals of clinical and translational neurology Volume: 4 Issue: 5 Pages: 318-325 Published: 2017-May
 DOI: 10.1002/acn3.409
added
21-May-17
2.  Title: A Novel AMPD2 Mutation Outside the AMP Deaminase Domain Causes Pontocerebellar Hypoplasia Type 9
 Author(s): Marsh, Ashley P. L.; Yap, Patrick; Tan, Tiong; et al.
 Source: American Journal of Medical Genetics Part a Volume: 173 Issue: 3 Pages: 820-823 Published: MAR 2017
 Times Cited: 1
 DOI: 10.1002/ajmg.a.38076
added
21-May-17
3.  Title: Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance
 Author(s): Marsh, Ashley P. L.; Heron, Delphine; Edwards, Timothy J.; et al.
 Source: Nature Genetics Volume: 49 Issue: 4 Pages: 511-+ Published: APR 2017
 Times Cited: 0
 DOI: 10.1038/ng.3794
added
21-May-17
4.  Title: Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
 Author(s): Stessman, Holly A. F.; Xiong, Bo; Coe, Bradley P.; et al.
 Source: Nature Genetics Volume: 49 Issue: 4 Pages: 515-+ Published: APR 2017
 Times Cited: 2
 DOI: 10.1038/ng.3792
added
21-May-17
5.  Title: Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency
 Author(s): Sim, Joe C. H.; White, Susan M.; Fitzpatrick, Elizabeth; et al.
 Source: Orphanet Journal of Rare Diseases Volume: 9 Published: MAR 27 2014
 Times Cited: 5
 DOI: 10.1186/1750-1172-9-43
added
30-Mar-17
6.  Title: Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5
 Author(s): Scerri, Thomas; Riseley, Jessica R.; Gillies, Greta; et al.
 Source: Annals of Clinical and Translational Neurology Volume: 2 Issue: 5 Pages: 575-580 Published: MAY 2015
 Times Cited: 20
 DOI: 10.1002/acn3.191
added
30-Mar-17
7.  Title: ALPK3-deficient cardiomyocytes generated from patient-derived induced pluripotent stem cells and mutant human embryonic stem cells display abnormal calcium handling and establish that ALPK3 deficiency underlies familial cardiomyopathy(aEuro)
 Author(s): Phelan, Dean G.; Anderson, David J.; Howden, Sara E.; et al.
 Source: European Heart Journal Volume: 37 Issue: 33 Pages: 2586-2590 Published: SEP 1 2016
 Times Cited: 2
 DOI: 10.1093/eurheartj/ehw160
added
30-Mar-17
8.  Title: Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia
 Author(s): Wan, Jijun; Steffen, Janos; Yourshaw, Michael; et al.
 Source: Brain Volume: 139 Pages: 2877-2890 Published: NOV 2016
 Times Cited: 6
 DOI: 10.1093/brain/aww212
added
30-Mar-17
9.  Title: Metalloprotease SPRTN/DVC1 Orchestrates Replication-Coupled DNA-Protein Crosslink Repair
 Author(s): Vaz, Bruno; Popovic, Marta; Newman, Joseph A.; et al.
 Source: Molecular Cell Volume: 64 Issue: 4 Pages: 704-719 Published: NOV 17 2016
 Times Cited: 6
 DOI: 10.1016/j.molcel.2016.09.032
added
30-Mar-17
10.  Title: Rasmussen encephalitis tissue transfer program
 Author(s): Kruse, Carol A.; Pardo, Carlos A.; Hartman, Adam L.; et al.
 Source: Epilepsia Volume: 57 Issue: 6 Pages: 1004-1006 Published: JUN 2016
 Times Cited: 1
 DOI: 10.1111/epi.13383
added
12-Sep-16
publication(s)  
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