All papers authored by Rick M. Tankard
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Melanie Bahlo ,
Alessandra Pennisi ,
Maxime Jacoupy ,
Rick M. Tankard ,
Claire Ewenczyk,
Kayli C. Davies,
Patricia Lino‐Coulon ,
Claire Colace ,
Haloom Rafehi ,
Nicolas Auger,
Brendan R. E. Ansell ,
Ivo van der Stelt,
Katherine B. Howell ,
Marie Coutelier
and 15 other authors
Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25
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Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores
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Dean G. Phelan,
Marwan Shinawi,
Arjan P. M. de Brouwer,
Rolph Pfundt,
Cari Dowling,
Tomi L. Toler,
V. Reid Sutton,
Emanuele Agolini
and 15 other authors
Pathogenic Variants in GPC4 Cause Keipert Syndrome
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Mark F. Bennett,
Peter Degorski,
Martin B. Delatycki,
Paul J. Lockhart,
Melanie Bahlo
Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data
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Mark F. Bennett,
Peter Degorski,
Rick M. Tankard ,
Martin B. Delatycki,
Paul J. Lockhart
Recent advances in the detection of repeat expansions with short-read next-generation sequencing
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Oriane Trouillard,
Quentin Welniarz,
Amanda Wood,
Guy Rouleau,
Emmanuel Roze,
Elliott H. Sherr,
Linda J. Richards,
Ashley Pl L. Marsh ,
Delphine Heron
and 38 other authors
Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance
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Greta Gillies,
Martin B. Delatycki,
Kate Pope,
Catherine Bromhead,
Richard J. Leventer,
Melanie Bahlo,
Paul J. Lockhart
Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency
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Monique M. Ryan,
Eppie M. Yiu,
Joe Ch H. Sim,
George McGillivray,
Martin B. Delatycki,
Elliott H. Sherr,
David J. Amor,
Melanie Bahlo,
Richard J. Leventer,
Paul J. Lockhart
Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss
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Rick Tankard ,
Elena V. Gazina,
Hans‐Henrik M. Dahl,
John A. Damiano,
Kate M. Lawrence,
Renzo Guerrini,
Brigid M. Regan,
Angelo Labate,
Antonio Gambardella,
Aiden Eliot Shearer,
Richard Jh H. Smith,
Laura Lichetta,
Sara Baldassari
and 8 other authors
PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy
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Vesna Lukic,
Karen L. Oliver ,
Katherine R. Smith
Using familial information for variant filtering in high-throughput sequencing studies
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Vladimir Gelev,
Michael Bynevelt,
Laura Florez,
Dochka Tzoneva,
Dora Zlatareva,
Velina Guergueltcheva,
Ivailo Tournev,
Melanie Bahlo,
Luba Kalaydjieva
Challenges of diagnostic exome sequencing in an inbred founder population
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