C. Stanley

发表

Rare genetic variants in the endocannabinoid system genes CNR1 and DAGLA are associated with neurological phenotypes in humans

K. McKernan, Douglas R. Smith, C. Stanley, 2017, bioRxiv.

Rare genetic variants in the endocannabinoid system genes CNR1 and DAGLA are associated with neurological phenotypes in humans

K. McKernan, Douglas R. Smith, C. Stanley, 2017, bioRxiv.

Neural substrates of spontaneous narrative production in focal neurodegenerative disease

B. Miller, K. Rankin, A. Thorne, 2015, Neuropsychologia.

Structural anatomy of empathy in neurodegenerative disease.

Maria Luisa Gorno-Tempini, Michael W Weiner, Shenly Glenn, 2006, Brain : a journal of neurology.

Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation

Larry N. Singh, Marni J. Falk, M. Attimonelli, 2020, Human mutation.

Adherence to the Mediterranean diet is associated with a lower risk of body-shape changes in Croatian patients treated with combination antiretroviral therapy

G. Rutherford, C. Stanley, T. Novotny, 2009, European Journal of Epidemiology.

Neuropsychological correlates of dominance, warmth, and extraversion in neurodegenerative disease

B. Miller, K. Rankin, J. Neuhaus, 2012, Cortex.

Identification of alternatively spliced human biotinidase mRNAs and putative localization of endogenous biotinidase.

C. Stanley, B. Wolf, J. Hymes, 2004, Molecular genetics and metabolism.

Mody-3: novel HNF1A mutation and the utility of glucagon-like peptide (GLP)-1 receptor agonist therapy.

C. Stanley, K. Pantalone, C. Faiman, 2014, Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists.

Mutations in BTD causing biotinidase deficiency

C. Stanley, B. Wolf, J. Hymes, 2001, Human mutation.

Infantile onset CMT2D/dSMA V in monozygotic twins due to a mutation in the anticodon‐binding domain of GARS

K. Mathews, C. Stanley, S. Moore, 2012, Journal of the peripheral nervous system : JPNS.

Localization of biotinidase in the brain: implications for its role in hearing loss in biotinidase deficiency

C. Stanley, B. Wolf, A. Sismanis, 2002, Hearing Research.

Genetic testing including targeted gene panel in a diverse clinical population of children with autism spectrum disorder: Findings and implications

Stormy J. Chamberlain, Justin L Cotney, C. Stanley, 2017, Molecular genetics & genomic medicine.

Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy

M. Daly, H. Rehm, Douglas R. Smith, 2019, Genetics in Medicine.

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

Anup D. Patel, Ethan M. Goldberg, I. Scheffer, 2017, Journal of Medical Genetics.

KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy‐lysosome defect

J. Rosenfeld, I. Coppens, T. Loddenkemper, 2018, Annals of neurology.

Clinical characterization of bvFTD due to FUS neuropathology

K. Rankin, W. Seeley, A. Karydas, 2012, Neurocase.

TBC1D24 genotype–phenotype correlation

J. Rosenfeld, I. Scheffer, J. Gécz, 2016, Neurology.

Clinically Relevant Variants – Identifying, Collecting, Interpreting, and Disseminating: The 2013 Annual Scientific Meeting of the Human Genome Variation Society

S. Sunyaev, M. Greenblatt, C. Stanley, 2014, Human mutation.

Detecting sarcasm from paralinguistic cues: Anatomic and cognitive correlates in neurodegenerative disease

Katherine P. Rankin, Michael Weiner, Bruce L. Miller, 2009, NeuroImage.

Neural basis of interpersonal traits in neurodegenerative diseases

Michael W. Weiner, Bruce L. Miller, Marc Sollberger, 2009, Neuropsychologia.

Neural substrates of socioemotional self-awareness in neurodegenerative disease

M. Weiner, K. Rankin, H. Rosen, 2014, Brain and behavior.

Interpersonal traits change as a function of disease type and severity in degenerative brain diseases

K. Rankin, J. Neuhaus, M. Growdon, 2010, Journal of Neurology, Neurosurgery & Psychiatry.

Hurt, tired and queasy: Specific variants in the ATPase domain of the TRAP1 mitochondrial chaperone are associated with common, chronic "functional" symptomatology including pain, fatigue and gastrointestinal dysmotility.

J. Skolnick, K. McKernan, Hongyi Zhou, 2015, Mitochondrion.

Dyslipidemia and adherence to the Mediterranean diet in Croatian HIV-infected patients during the first year of highly active antiretroviral therapy.

G. Rutherford, C. Stanley, T. Novotny, 2009, Collegium antropologicum.

ONT long-read WGS for variant discovery and orthogonal confirmation of short read WGS derived genetic variants in clinical genetic testing

C. Stanley, Shane P. Hussey, Ludmila Kaplun, 2023, Frontiers in Genetics.

Estimating the healthcare burden of osteomyelitis in Uganda.

G. Rutherford, S. Morshed, C. Stanley, 2010, Transactions of the Royal Society of Tropical Medicine and Hygiene.

J. Skolnick, K. McKernan, Hongyi Zhou, 2015, Mitochondrion.

Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum

Marni J. Falk, Lishuang Shen, B. Harding, 2023, Annals of neurology.

Detecting sarcasm from paralinguistic cues: Anatomic and cognitive correlates in neurodegenerative disease

M. Weiner, K. Rankin, M. Gorno-Tempini, 2009, NeuroImage.