Skip to content

Home Search Authors Pakistan News Saved

SciRah

SciRah does not host or store research papers. Results come live from free, official scholarly APIs, and every paper links back to its original source.

Data sources

OpenAlex
Semantic Scholar
Crossref
CORE
arXiv
PubMed

Privacy policy Terms of service

K. Pope · SciRah

Researcher profile · Semantic Scholar

K. Pope

Share profile

K. Pope — researcher profile on SciRah

h-index: 27
Works: 64
Citations: 2,833

Most-cited papers

Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology.
Gabrielle R. Wilson, Joe C. H. Sim, C. Mclean, Maila Giannandrea +29 more
2014American Journal of Human Genetics232 citations Open access
Semantic Scholar
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS
H. Rafehi, D. Szmulewicz, M. Bennett, N. Sobreira +29 more
2019American Journal of Human Genetics224 citations Open access
Semantic Scholar
Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features
D. Lessel, Bruno Vaz, Swagata Halder, P. Lockhart +33 more
2014Nature Genetics200 citations Open access
Semantic Scholar
Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.
R. Taft, A. Vanderver, R. Leventer, Stephen A. Damiani +20 more
2013American Journal of Human Genetics179 citations Open access
Semantic Scholar
The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care
Brian T. Wilson, Zornitza Stark, Ruth E. Sutton, S. Danda +16 more
2015Genetics in Medicine157 citations Open access
Semantic Scholar
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants
Lucilla Pizzo, Matthew Jensen, Andrew Polyak, J. Rosenfeld +52 more
2018Genetics in Medicine156 citations Open access
Semantic Scholar
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14.
H. Rafehi, Justin Read, D. Szmulewicz, K. Davies +27 more
2022American Journal of Human Genetics144 citations Open access
Semantic Scholar
Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3
Joe C. H. Sim, T. Scerri, Miriam Fanjul-Fernández, Jessica R. Riseley +16 more
2015Annals of Neurology134 citations
Semantic Scholar
Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5
T. Scerri, J. Riseley, G. Gillies, K. Pope +15 more
2015Annals of Clinical and Translational Neurology101 citations Open access
Semantic Scholar
Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance
Ashley P. L. Marsh, D. Heron, Timothy J. Edwards, A. Quartier +49 more
2017Nature Genetics91 citations Open access
Semantic Scholar
Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia.
Ji-Jun Wan, Janos Steffen, Michael Yourshaw, H. Mamsa +13 more
2016Brain : a journal of neurology85 citations Open access
Semantic Scholar
The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP
S. Nikkel, A. Dauber, S. de Munnik, M. Connolly +64 more
2013Orphanet Journal of Rare Diseases78 citations Open access
Semantic Scholar
Second‐hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA
W. Lee, Sarah E. M. Stephenson, K. Howell, K. Pope +10 more
2019Annals of Clinical and Translational Neurology71 citations Open access
Semantic Scholar
Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR
R. Leventer, T. Scerri, Ashley P. L. Marsh, K. Pope +9 more
2015Neurology69 citations Open access
Semantic Scholar
Phenotypic variability of distal 22q11.2 copy number abnormalities
T. Tan, A. Collins, P. James, G. McGillivray +12 more
2011American Journal of Medical Genetics. Part A67 citations
Semantic Scholar
Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain
Zi-Meng Ye, Zac Chatterton, Jahnvi Pflueger, J. Damiano +20 more
2021Brain Communications65 citations Open access
Semantic Scholar
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.
D. Phelan, David J. Anderson, Sara E. Howden, Raymond C. B. Wong +15 more
2016European Heart Journal65 citations Open access
Semantic Scholar
Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients
F. Sekiguchi, Y. Tsurusaki, N. Okamoto, K. W. Teik +75 more
2019Journal of Human Genetics64 citations Open access
Semantic Scholar
Cauli: A Mouse Strain with an Ift140 Mutation That Results in a Skeletal Ciliopathy Modelling Jeune Syndrome
K. A. Miller, Casey Ah-Cann, Megan F. Welfare, T. Tan +8 more
2013PLoS Genetics63 citations Open access
Semantic Scholar
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14.
H. Rafehi, Justin Read, D. Szmulewicz, K. Davies +27 more
2023American Journal of Human Genetics60 citations Open access
Semantic Scholar
Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy
M. Walsh, K. Bell, B. Chong, Emma Creed +19 more
2017Annals of Clinical and Translational Neurology47 citations Open access
Semantic Scholar
Speech and language in a genotyped cohort of individuals with Kabuki syndrome
Angela T. Morgan, C. Mei, Annette C. Da Costa, Joanne M Fifer +7 more
2015American Journal of Medical Genetics. Part A37 citations
Semantic Scholar
Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss
Ashley P. L. Marsh, V. Lukic, K. Pope, C. Bromhead +11 more
2015Neurology: Genetics36 citations Open access
Semantic Scholar
Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome
Gabrielle R. Wilson, Jasmine Sunley, Katherine R. Smith, K. Pope +10 more
2013European Journal of Human Genetics36 citations Open access
Semantic Scholar
Genetic heterogeneity of polymicrogyria: study of 123 patients using deep sequencing
C. Stutterd, Stefanie Brock, K. Stouffs, Miriam Fanjul-Fernández +7 more
2020Brain Communications32 citations Open access
Semantic Scholar
Genetic characterization identifies bottom-of-sulcus dysplasia as an mTORopathy
W. Lee, Sarah E. M. Stephenson, K. Pope, G. Gillies +8 more
2020Neurology31 citations
Semantic Scholar
Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome
Michael S. Hildebrand, A. Harvey, Stephen Malone, J. Damiano +16 more
2018Neurology: Genetics31 citations Open access
Semantic Scholar
One-Stage, Limited-Resection Epilepsy Surgery for Bottom-of-Sulcus Dysplasia
E. Macdonald-Laurs, W. Maixner, C. Bailey, Sarah M. Barton +15 more
2021Neurology23 citations
Semantic Scholar
Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency
Joe C. H. Sim, S. White, E. Fitzpatrick, Gabrielle R. Wilson +12 more
2014Orphanet Journal of Rare Diseases22 citations Open access
Semantic Scholar
Fragile X–related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation study
Yoshimi Inaba, A. Herlihy, C. Schwartz, C. Skinner +16 more
2012Genetics in Medicine22 citations Open access
Semantic Scholar
Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency
D. Amor, Ashley P. L. Marsh, E. Storey, Rick M. Tankard +7 more
2016Neurology: Genetics21 citations Open access
Semantic Scholar
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.
James L. Shepherdson, K. Hutchison, Dilan Wellalage Don, George McGillivray +52 more
2024American Journal of Human Genetics19 citations Open access
Semantic Scholar
Callosal agenesis and congenital mirror movements: outcomes associated with DCC mutations
M. Spencer-Smith, Jacquelyn L. Knight, E. Lacaze, C. Depienne +32 more
2020Developmental Medicine & Child Neurology16 citations Open access
Semantic Scholar
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.
Corrine Smolen, Matthew Jensen, Lisa Dyer, Lucilla Pizzo +39 more
2023American Journal of Human Genetics15 citations Open access
Semantic Scholar
Clonally Focused Public and Private T Cells in Resected Brain Tissue From Surgeries to Treat Children With Intractable Seizures
Julia W. Chang, Samuel D. Reyes, Emmanuelle Faure-Kumar, S. Lam +11 more
2021Frontiers in Immunology14 citations Open access
Semantic Scholar
Rapid Diagnosis of Spinocerebellar Ataxia 36 in a Three‐Generation Family Using Short‐Read Whole‐Genome Sequencing Data
H. Rafehi, D. Szmulewicz, K. Pope, M. Wallis +5 more
2020Movement Disorders14 citations Open access
Semantic Scholar
Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket protein) cause severe intellectual disability in humans.
N. V. Van Bergen, K. Bell, Kirstyn T. Carey, Russell Gear +12 more
2021Human Molecular Genetics11 citations Open access
Semantic Scholar
A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9
Ashley P. L. Marsh, Patrick Yap, T. Tan, K. Pope +8 more
2017American Journal of Medical Genetics. Part A11 citations
Semantic Scholar
A prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia
H. Rafehi, L. Fearnley, Justin L. Read, P. Snell +38 more
2025Genome Research10 citations Open access
Semantic Scholar
Speech, Language, and Oromotor Skills in Patients With Polymicrogyria
R. Braden, Jessica O. Boyce, C. Stutterd, K. Pope +4 more
2021Neurology10 citations
Semantic Scholar
Generation of seven iPSC lines from peripheral blood mononuclear cells suitable to investigate Autism Spectrum Disorder.
K. Bozaoglu, Yujing Gao, E. Stanley, Miriam Fanjul-Fernández +9 more
2019Stem Cell Research10 citations Open access
Semantic Scholar
Identification of a Novel RNF213 Variant in a Family with Heterogeneous Intracerebral Vasculopathy
Katherine R. Smith, R. Leventer, M. Mackay, K. Pope +5 more
2014International Journal of Stroke10 citations
Semantic Scholar
Genetic modifiers and ascertainment drive variable expressivity of complex disorders
Matthew Jensen, Corrine Smolen, Anastasia Tyryshkina, Lucilla Pizzo +68 more
2025Cell9 citations Open access
Semantic Scholar
Genetic modifiers and ascertainment drive variable expressivity of complex disorders
Matthew Jensen, Corrine Smolen, Anastasia Tyryshkina, Lucilla Pizzo +66 more
2024medRxiv7 citations Open access
Semantic Scholar
The phenotype of floating-harbor syndrome
S. Nikkel, A. Dauber, S. de Munnik, M. Connolly +57 more
20166 citations
Semantic Scholar
Comprehensive Characterisation of the RFC1 Repeat in an Australian Cohort
K. Davies, H. Rafehi, L. Fearnley, P. Snell +16 more
2025Cerebellum5 citations
Semantic Scholar
Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations
Daniz Kooshavar, D. Amor, K. Boggs, Naomi Baker +19 more
2024Brain Communications5 citations Open access
Semantic Scholar
Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services
C. Stutterd, A. Vanderver, P. Lockhart, G. Helman +24 more
2022European Journal of Medical Genetics5 citations Open access
Semantic Scholar
The genetic landscape and classification of infantile epileptic spasms syndrome requiring surgery due to suspected focal brain malformations
Matthew Coleman, Min Wang, P. Snell, W. Lee +12 more
2025Brain Communications4 citations Open access
Semantic Scholar
Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants
Corrine Smolen, Matthew Jensen, L. Dyer, Lucilla Pizzo +39 more
2023medRxiv4 citations Open access
Semantic Scholar

Frequent co-authors

Invite them to SciRah by sharing their profile.

P. Lockhart×28
Invite
P. Lockhart — researcher profile on SciRah
R. Leventer×27
Invite
R. Leventer — researcher profile on SciRah
D. Amor×22
Invite
D. Amor — researcher profile on SciRah
G. Gillies×21
Invite
G. Gillies — researcher profile on SciRah

×20

Invite

M. Delatycki — researcher profile on SciRah

Invite

M. Bahlo — researcher profile on SciRah

Invite

P. Snell — researcher profile on SciRah

Invite

W. Maixner — researcher profile on SciRah

Invite

P. Lockhart — researcher profile on SciRah

Invite

I. Scheffer — researcher profile on SciRah

Sarah E. M. Stephenson×7

Invite

Sarah E. M. Stephenson — researcher profile on SciRah

Ashley P. L. Marsh×7

Invite

Ashley P. L. Marsh — researcher profile on SciRah