Publications by authors named "Rick Tankard"

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Author Correction: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.
Andrea Cortese, Sarah J Beecroft, Stefano Facchini, Riccardo Curro, Macarena Cabrera-Serrano, Rick Tankard

Nat Commun· October 2024

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A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.
Andrea Cortese, Sarah J Beecroft, Stefano Facchini, Riccardo Curro, Macarena Cabrera-Serrano, Rick Tankard

Nat Commun· July 2024

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Genomics of perivascular space burden unravels early mechanisms of cerebral small vessel disease.
Marie-Gabrielle Duperron, Maria J Knol, Quentin Le Grand, Tavia E Evans, Aniket Mishra, Rick M Tankard

Nat Med· April 2023

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Author Correction: Common variants in Alzheimer's disease and risk stratification by polygenic risk scores.
Itziar de Rojas, Sonia Moreno-Grau, Niccolo Tesi, Benjamin Grenier-Boley, Victor Andrade, Rick M Tankard

Nat Commun· February 2023

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Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25.
Mathieu Barbier, Melanie Bahlo, Alessandra Pennisi, Maxime Jacoupy, Rick M Tankard

Ann Neurol· July 2022

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Comprehensive analysis of epigenetic clocks reveals associations between disproportionate biological ageing and hippocampal volume.
Lidija Milicic, Michael Vacher, Tenielle Porter, Vincent Doré, Samantha C Burnham, Rick Tankard

Geroscience· June 2022

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Genetic variants associated with longitudinal changes in brain structure across the lifespan.
Rachel M Brouwer, Marieke Klein, Katrina L Grasby, Hugo G Schnack, Neda Jahanshad, Rick M Tankard

Nat Neurosci· April 2022

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Common variants in Alzheimer's disease and risk stratification by polygenic risk scores.
Itziar de Rojas, Sonia Moreno-Grau, Niccolo Tesi, Benjamin Grenier-Boley, Victor Andrade, Rick M Tankard

Nat Commun· June 2021

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Pathogenic Variants in GPC4 Cause Keipert Syndrome.
David J Amor, Sarah E M Stephenson, Mirna Mustapha, Martin A Mensah, Charlotte W Ockeloen, Rick M Tankard

Am J Hum Genet· May 2019

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Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data.
Rick M Tankard, Mark F Bennett, Peter Degorski, Martin B Delatycki, Paul J Lockhart

Am J Hum Genet· December 2018

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Genetic investigation into an increased susceptibility to biliary atresia in an extended New Zealand Māori family.
Sophia R Cameron-Christie, Justin Wilde, Andrew Gray, Rick Tankard, Melanie Bahlo

BMC Med Genomics· December 2018

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Recent advances in the detection of repeat expansions with short-read next-generation sequencing.
Melanie Bahlo, Mark F Bennett, Peter Degorski, Rick M Tankard, Martin B Delatycki

F1000Res· June 2018

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Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance.
Ashley P L Marsh, Delphine Heron, Timothy J Edwards, Angélique Quartier, Charles Galea, Rick Tankard

Nat Genet· April 2017

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Heterozygous mutations in cause juvenile peroxisomal D-bifunctional protein deficiency.
David J Amor, Ashley P L Marsh, Elsdon Storey, Rick Tankard, Greta Gillies

Neurol Genet· December 2016

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PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy.
Michael S Hildebrand, Rick Tankard, Elena V Gazina, John A Damiano, Kate M Lawrence

Ann Clin Transl Neurol· August 2015

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Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss.
Ashley P L Marsh, Vesna Lukic, Kate Pope, Catherine Bromhead, Rick Tankard

Neurol Genet· August 2015

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Using familial information for variant filtering in high-throughput sequencing studies.
Melanie Bahlo, Rick Tankard, Vesna Lukic, Karen L Oliver, Katherine R Smith

Hum Genet· November 2014

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Challenges of diagnostic exome sequencing in an inbred founder population.
Dimitar N Azmanov, Teodora Chamova, Rick Tankard, Vladimir Gelev, Michael Bynevelt

Mol Genet Genomic Med· July 2013

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