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Kate Pope

Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology
2014 · Gabrielle R. Wilson, Joe C.H. Sim, et al. · The American Journal of Human Genetics · 273
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Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS
2019 · Haloom Rafehi, David J. Szmulewicz, et al. · The American Journal of Human Genetics · 262
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Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features
2014 · Davor Lessel, Bruno Vaz, et al. · Nature Genetics · 237
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants
2018 · Lucilla Pizzo, Matthew Jensen, et al. · Genetics in Medicine · 193
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Mutations in DARS Cause Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity
2013 · Ryan J. Taft, Adeline Vanderver, et al. · The American Journal of Human Genetics · 186
The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care
2015 · Brian T. Wilson, Zornitza Stark, et al. · Genetics in Medicine · 179
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An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14
2022 · Haloom Rafehi, Justin Read, et al. · The American Journal of Human Genetics · 175
Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3
2015 · Joe C. Sim, Thomas Scerri, et al. · Annals of Neurology · 141
Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC 5
2015 · Thomas Scerri, Jessica R. Riseley, et al. · Annals of Clinical and Translational Neurology · 104
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Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance
2017 · Ashley P L Marsh, Delphine Heron, et al. · Nature Genetics · 101
Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia
2016 · Jijun Wan, Janos Steffen, et al. · Brain · 93
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The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP
2013 · Sarah M Nikkel, Andrew Dauber, et al. · Orphanet Journal of Rare Diseases · 86
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Second‐hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA
2019 · Wei Shern Lee, Sarah E. M. Stephenson, et al. · Annals of Clinical and Translational Neurology · 80
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Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR
2015 · Richard J. Leventer, Thomas Scerri, et al. · Neurology · 80
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Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain
2021 · Zimeng Ye, Zac Chatterton, et al. · Brain Communications · 77
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Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients
2019 · Futoshi Sekiguchi, Yoshinori Tsurusaki, et al. · Journal of Human Genetics · 73
Phenotypic variability of distal 22q11.2 copy number abnormalities
2011 · Tiong Yang Tan, Amanda Collins, et al. · American Journal of Medical Genetics Part A · 72
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
2016 · Dean G. Phelan, David J. Anderson, et al. · European Heart Journal · 66
Cauli: A Mouse Strain with an Ift140 Mutation That Results in a Skeletal Ciliopathy Modelling Jeune Syndrome
2013 · Kerry A. Miller, Casey J. Ah-Cann, et al. · PLoS Genetics · 64
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An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14
2023 · Haloom Rafehi, Justin Read, et al. · The American Journal of Human Genetics · 51
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Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy
2017 · Maie Walsh, Katrina M. Bell, et al. · Annals of Clinical and Translational Neurology · 46
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Genetic characterization identifies bottom-of-sulcus dysplasia as an mTORopathy
2020 · Wei Shern Lee, Sarah E.M. Stephenson, et al. · Neurology · 41
One-Stage, Limited-Resection Epilepsy Surgery for Bottom-of-Sulcus Dysplasia
2021 · Emma Macdonald-Laurs, Wirginia J. Maixner, et al. · Neurology · 40
Genetic heterogeneity of polymicrogyria: study of 123 patients using deep sequencing
2020 · Chloe A Stutterd, Stefanie Brock, et al. · Brain Communications · 40
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Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss
2015 · Ashley P.L. Marsh, Vesna Lukic, et al. · Neurology Genetics · 39
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Works count: 58
Citation count: 3,167
H-index: 29
I10-index: 41
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