Victoria Mok Siu

Affiliations

Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, ON, N6A 5W9, Canada.

Publications (5)

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Laura Castilla-Vallmanya , Kaja K Selmer , Clémantine Dimartino , Raquel Rabionet , Bernardo Blanco-Sánchez , Sandra Yang , Margot R F Reijnders , Antonie J van Essen , Myriam Oufadem , Magnus D Vigeland , Barbro Stadheim , Gunnar Houge , Helen Cox , Helen Kingston , Jill Clayton-Smith , Jeffrey W Innis , Maria Iascone , Anna Cereda , Sara Gabbiadini , Wendy K Chung , Victoria Sanders , Joel Charrow , Emily Bryant , John Millichap , Antonio Vitobello , Christel Thauvin , Frederic Tran Mau-Them , Laurence Faivre , Gaetan Lesca , Audrey Labalme , Christelle Rougeot , Nicolas Chatron , Damien Sanlaville , Katherine M Christensen , Amelia Kirby , Raymond Lewandowski , Rachel Gannaway , Maha Aly , Anna Lehman , Lorne Clarke , Luitgard Graul-Neumann , Christiane Zweier , Davor Lessel , Bernarda Lozic , Ingvild Aukrust , Ryan Peretz , Robert Stratton , Thomas Smol , Anne Dieux-Coëslier , Joanna Meira , Elizabeth Wohler , Nara Sobreira , Erin M Beaver , Jennifer Heeley , Lauren C Briere , Frances A High , David A Sweetser , Melissa A Walker , Catherine E Keegan , Parul Jayakar , Marwan Shinawi , Wilhelmina S Kerstjens-Frederikse , Dawn L Earl , Victoria M Siu , Emma Reesor , Tony Yao , Robert A Hegele , Olena M Vaske , Shannon Rego , Auteur inconnu , Kevin A Shapiro , Brian Wong , Michael J Gambello , Marie McDonald , Danielle Karlowicz , Roberto Colombo , Alessandro Serretti , Lynn Pais , Anne O'Donnell-Luria , Alison Wray , Simon Sadedin , Belinda Chong , Tiong Y Tan , John Christodoulou , Susan M White , Anne Slavotinek , Deborah Barbouth , Dayna Morel Swols , Mélanie Parisot , Christine Bole-Feysot , Patrick Nitschké , Véronique Pingault , Arnold Munnich , Megan T Cho , Valérie Cormier-Daire , Susanna Balcells , Stanislas Lyonnet , Daniel Grinberg , Jeanne Amiel , Roser Urreizti , Christopher T Gordon

Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature.

Clinical epigenetics

Avec: Andrea Ciolfi , Erfan Aref-Eshghi , Simone Pizzi , Lucia Pedace , Evelina Miele , Jennifer Kerkhof , Elisabetta Flex , Simone Martinelli , Francesca Clementina Radio , Claudia A L Ruivenkamp , Gijs W E Santen , Emilia Bijlsma , Daniela Barge-Schaapveld , Katrin Ounap , Victoria Mok Siu , R Frank Kooy , Bruno Dallapiccola , Bekim Sadikovic , Marco Tartaglia

Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum.

American journal of medical genetics. Part A

Avec: Ebba Alkhunaizi , Shirley Shuster , Patrick Shannon , Victoria Mok Siu , Sandra Darilek , Carrie A Mohila , Sarah Boissel , Benjamin Ellezam , Catherine Fallet-Bianco , Anne-Marie Laberge , Julianne Zandberg , Marie Injeyan , Lili-Naz Hazrati , Fadi Hamdan , David Chitayat

Moyamoya Syndrome in an Infant with Aicardi-Goutières and Williams Syndromes: A Case Report.

Neuropediatrics

Avec: Jagraj S Brar , Rahul Verma , Mohammed Al-Omari , Victoria M Siu , Andrea V Andrade , Michael T Jurkiewicz , Saptharishi Lalgudi Ganesan

Symptomatic mosaicism for a novel FBN1 splice site variant in a parent causing inherited neonatal Marfan syndrome.

American journal of medical genetics. Part A

Avec: Julianne K Postma , Luis Altamirano-Diaz , C Anthony Rupar , Victoria M Siu

Réseau de co-auteurs

Victoria M Siu 3 collaborations

Laura Castilla-Vallmanya 1 collaboration

Kaja K Selmer 1 collaboration

Clémantine Dimartino 1 collaboration

Raquel Rabionet 1 collaboration

Bernardo Blanco-Sánchez 1 collaboration

Sandra Yang 1 collaboration

Margot R F Reijnders 1 collaboration

Antonie J van Essen 1 collaboration

Myriam Oufadem 1 collaboration

Magnus D Vigeland 1 collaboration

Barbro Stadheim 1 collaboration

Gunnar Houge 1 collaboration

Helen Cox 1 collaboration

Helen Kingston 1 collaboration

Jill Clayton-Smith 1 collaboration

Jeffrey W Innis 1 collaboration

Maria Iascone 1 collaboration

Anna Cereda 1 collaboration

Sara Gabbiadini 1 collaboration

Wendy K Chung 1 collaboration

Victoria Sanders 1 collaboration

Joel Charrow 1 collaboration

Emily Bryant 1 collaboration

John Millichap 1 collaboration

Antonio Vitobello 1 collaboration

Christel Thauvin 1 collaboration

Frederic Tran Mau-Them 1 collaboration

Laurence Faivre 1 collaboration

Gaetan Lesca 1 collaboration

Audrey Labalme 1 collaboration

Christelle Rougeot 1 collaboration

Nicolas Chatron 1 collaboration

Damien Sanlaville 1 collaboration

Katherine M Christensen 1 collaboration

Amelia Kirby 1 collaboration

Raymond Lewandowski 1 collaboration

Rachel Gannaway 1 collaboration

Maha Aly 1 collaboration

Anna Lehman 1 collaboration

Lorne Clarke 1 collaboration

Luitgard Graul-Neumann 1 collaboration

Christiane Zweier 1 collaboration

Davor Lessel 1 collaboration

Bernarda Lozic 1 collaboration

Ingvild Aukrust 1 collaboration

Ryan Peretz 1 collaboration

Robert Stratton 1 collaboration

Thomas Smol 1 collaboration

Anne Dieux-Coëslier 1 collaboration

Joanna Meira 1 collaboration

Elizabeth Wohler 1 collaboration

Nara Sobreira 1 collaboration

Erin M Beaver 1 collaboration

Jennifer Heeley 1 collaboration

Lauren C Briere 1 collaboration

Frances A High 1 collaboration

David A Sweetser 1 collaboration

Melissa A Walker 1 collaboration

Catherine E Keegan 1 collaboration

Parul Jayakar 1 collaboration

Marwan Shinawi 1 collaboration

Wilhelmina S Kerstjens-Frederikse 1 collaboration

Dawn L Earl 1 collaboration

Emma Reesor 1 collaboration

Tony Yao 1 collaboration

Robert A Hegele 1 collaboration

Olena M Vaske 1 collaboration

Shannon Rego 1 collaboration

None None 1 collaboration

Kevin A Shapiro 1 collaboration

Brian Wong 1 collaboration

Michael J Gambello 1 collaboration

Marie McDonald 1 collaboration

Danielle Karlowicz 1 collaboration

Roberto Colombo 1 collaboration

Alessandro Serretti 1 collaboration

Lynn Pais 1 collaboration

Anne O'Donnell-Luria 1 collaboration

Alison Wray 1 collaboration

Simon Sadedin 1 collaboration

Belinda Chong 1 collaboration

Tiong Y Tan 1 collaboration

John Christodoulou 1 collaboration

Susan M White 1 collaboration

Anne Slavotinek 1 collaboration

Deborah Barbouth 1 collaboration

Dayna Morel Swols 1 collaboration

Mélanie Parisot 1 collaboration

Christine Bole-Feysot 1 collaboration

Patrick Nitschké 1 collaboration

Véronique Pingault 1 collaboration

Arnold Munnich 1 collaboration

Megan T Cho 1 collaboration

Valérie Cormier-Daire 1 collaboration

Susanna Balcells 1 collaboration

Stanislas Lyonnet 1 collaboration

Daniel Grinberg 1 collaboration

Jeanne Amiel 1 collaboration

Roser Urreizti 1 collaboration

Christopher T Gordon 1 collaboration

Andrea Ciolfi 1 collaboration

Erfan Aref-Eshghi 1 collaboration

Simone Pizzi 1 collaboration

Lucia Pedace 1 collaboration

Evelina Miele 1 collaboration

Jennifer Kerkhof 1 collaboration

Elisabetta Flex 1 collaboration

Simone Martinelli 1 collaboration

Francesca Clementina Radio 1 collaboration

Claudia A L Ruivenkamp 1 collaboration

Gijs W E Santen 1 collaboration

Emilia Bijlsma 1 collaboration

Daniela Barge-Schaapveld 1 collaboration

Katrin Ounap 1 collaboration

R Frank Kooy 1 collaboration

Bruno Dallapiccola 1 collaboration

Bekim Sadikovic 1 collaboration

Marco Tartaglia 1 collaboration

Ebba Alkhunaizi 1 collaboration

Shirley Shuster 1 collaboration

Patrick Shannon 1 collaboration

Sandra Darilek 1 collaboration

Carrie A Mohila 1 collaboration

Sarah Boissel 1 collaboration

Benjamin Ellezam 1 collaboration

Catherine Fallet-Bianco 1 collaboration

Anne-Marie Laberge 1 collaboration

Julianne Zandberg 1 collaboration

Marie Injeyan 1 collaboration

Lili-Naz Hazrati 1 collaboration

Fadi Hamdan 1 collaboration

David Chitayat 1 collaboration

Jagraj S Brar 1 collaboration

Rahul Verma 1 collaboration

Mohammed Al-Omari 1 collaboration

Andrea V Andrade 1 collaboration

Michael T Jurkiewicz 1 collaboration

Saptharishi Lalgudi Ganesan 1 collaboration

Julianne K Postma 1 collaboration

Luis Altamirano-Diaz 1 collaboration

C Anthony Rupar 1 collaboration