Giulia Del Gobbo - BC Childrens Hosp Res Inst

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个人简介

Postdoctoral Research Fellow at the Children's Hospital of Eastern Ontario (CHEO) Research Institute with the Care4Rare Canada consortium applying cutting-edge genetic technologies to improve diagnosis and management of rare diseases in Canada.

研究兴趣

论文共 29 篇作者统计合作学者相似作者

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A Common Flanking Variant is Associated with Enhanced Meiotic Stability of the FGF14-SCA27B Locus

Nature Geneticsno. 7 (2024): 1366-1370

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A Novel De Novo Splice Acceptor Variant in BICD2 is Associated with Spinal Muscular Atrophy

Giulia F Del Gobbo,Xueqi Wang,Stella K MacDonald,Yijing Liang, CareRare Canada Consortium,Hugh J McMillan,Gabrielle Lemire,Kym M Boycott

American journal of medical genetics Part App.e63944-e63944, (2024)

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Sex-dependent Placental Mqtl Provide Insight into the Prenatal Origins of Childhood-Onset Traits and Conditions

William Casazza,Amy M. Inkster,Giulia F. Del Gobbo,Victor Yuan,Fabien Delahaye,Carmen Marsit,Yongjin P. Park,Wendy P. Robinson,Sara Mostafavi,Jessica K. Dennis

iSciencepp.109047, (2024)

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P605: RNA Sequencing As a Second-Line Test for Rare Disease

Aren Marshall,Giulia Del Gobbo,Yijing Liang,Madeline Couse,Kym Boycott,Kristin Kernohan

Genetics in Medicine Open (2024): 101511

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P195: Investigating the contribution of an intronic expansion repeat in FGF14 as a genetic cause of late-onset ataxia

Alexanne Cuillerier, Layla Mackay,Erika Wall,Giulia Del Gobbo, Luke Seldenthuis,Wendy Mears,Alexandre White-Brown, Laura Larrigan,David Dyment,Kym Boycott

Genetics in Medicine Open (2024): 101092

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GAA-FGF14 Disease: Defining Its Frequency, Molecular Basis, and 4-Aminopyridine Response in a Large Downbeat Nystagmus Cohort

David Pellerin,Felix Heindl,Carlo Wilke,Matt C. Danzi,Andreas Traschuetz,Catherine Ashton,Marie-Josee Dicaire,Alexanne Cuillerier,Giulia Del Gobbo,Kym M. Boycott,Jens Claassen,Dan Rujescu,Annette M. Hartmann,Stephan Zuchner,Bernard Brais,Michael Strupp,Matthis Synofzik

EBIOMEDICINE (2024)

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Sex-dependent Placental Methylation Quantitative Trait Loci Provide Insight into the Prenatal Origins of Childhood Onset Traits and Conditions

William Casazza,Amy M. Inkster,Giulia F. Del Gobbo,Victor Yuan,Fabien Delahaye,Carmen Marsit,Yongjin P. Park,Wendy P. Robinson,Sara Mostafavi,Jessica K. Dennis

iScienceno. 2 (2024): 109047-109047

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O36: Long-read Genome Sequencing in Unsolved Rare Genetic Diseases: Preliminary Experiences from the Care4Rare Canada Consortium

Giulia Del Gobbo,Madeline Couse,Christine Lambert, Siyuan Zhang,Harsharan Dhillon,Cairbre Fanslow,William Rowell,Egor Dolzhenko,Guilherme De Sena Brandine, Michael Eberle,Christian Marshall,Kristin Kernohan,Kym Boycott

Genetics in Medicine Open (2024): 101474

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The Application of Epiphenotyping Approaches to DNA Methylation Array Studies of the Human Placenta

A. Khan,A. M. Inkster,M. S. Peñaherrera,S. King,S. Kildea,T. F. Oberlander,D. M. Olson,C. Vaillancourt,U. Brain, E. O. Beraldo,A. G. Beristain,V. L. Clifton,G. F. Del Gobbo,W. L. Lam,G. A. S. Metz, J. W. Y. Ng,E. M. Price, J. M. Schuetz,V. Yuan,É. Portales-Casamar,W. P. Robinson

Epigenetics & Chromatin（2023）

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