Mariya Kozenko

Lauren Brick 6 collaborations

Natalya Karp 3 collaborations

Chitra Prasad 3 collaborations

Erfan Aref-Eshghi 2 collaborations

Melanie Napier 2 collaborations

Deanna Alexis Carere 2 collaborations

Michael A Levy 2 collaborations

Jennifer Kerkhof 2 collaborations

Alan Stuart 2 collaborations

Victoria Mok Siu 2 collaborations

Peter J Ainsworth 2 collaborations

Hanxin Lin 2 collaborations

David I Rodenhiser 2 collaborations

Charles E Schwartz 2 collaborations

Bekim Sadikovic 2 collaborations

Kylie Tingley 2 collaborations

Michael Pugliese 2 collaborations

Michael T Geraghty 2 collaborations

Jonathan B Kronick 2 collaborations

Beth K Potter 2 collaborations

Doug Coyle 2 collaborations

Kumanan Wilson 2 collaborations

Valerie Austin 2 collaborations

Catherine Brunel-Guitton 2 collaborations

Daniela Buhas 2 collaborations

Alicia K J Chan 2 collaborations

Sarah Dyack 2 collaborations

Sharan Goobie 2 collaborations

Cheryl R Greenberg 2 collaborations

Michal Inbar-Feigenberg 2 collaborations

Erica Langley 2 collaborations

Matthew Lines 2 collaborations

Julian Little 2 collaborations

Jennifer MacKenzie 2 collaborations

Bruno Maranda 2 collaborations

Saadet Mercimek-Andrews 2 collaborations

Aizeddin Mhanni 2 collaborations

John J Mitchell 2 collaborations

Laura Nagy 2 collaborations

Amy Pender 2 collaborations

Murray Potter 2 collaborations

Suzanne Ratko 2 collaborations

Ramona Salvarinova 2 collaborations

Andreas Schulze 2 collaborations

Komudi Siriwardena 2 collaborations

Neal Sondheimer 2 collaborations

Rebecca Sparkes 2 collaborations

Sylvia Stockler-Ipsiroglu 2 collaborations

Yannis Trakadis 2 collaborations

Lesley Turner 2 collaborations

Clara Van Karnebeek 2 collaborations

Anthony Vandersteen 2 collaborations

Brenda J Wilson 2 collaborations

Andrea C Yu 2 collaborations

Pranesh Chakraborty 2 collaborations

None None 2 collaborations

Solveig Heide 2 collaborations

Cyril Mignot 2 collaborations

Boris Keren 2 collaborations

Reza Maroofian 2 collaborations

Henry Houlden 2 collaborations

William B Dobyns 2 collaborations

Ehsan Ghayoor Karimiani 2 collaborations

Manveen Virdee 1 collaboration

Eroshini Swarnalingam 1 collaboration

Mark Tarnopolsky 1 collaboration

Kevin Jones 1 collaboration

Eric G Bend 1 collaboration

Samantha Colaiacovo 1 collaboration

Michelle Caudle 1 collaboration

Rana Chakrabarti 1 collaboration

Lauren Brady 1 collaboration

Maha Saleh 1 collaboration

Arthur L Beaudet 1 collaboration

Chumei Li 1 collaboration

Maryia Kozenko 1 collaboration

Mark A Tarnopolsky 1 collaboration

Ian D Krantz 1 collaboration

Matthew A Deardorff 1 collaboration

Monica Lamoureux 1 collaboration

Michael Kowalski 1 collaboration

Annette Feigenbaum 1 collaboration

Alette Giezen 1 collaboration

Shailly Jain Ghai 1 collaboration

Connie Mohan 1 collaboration

Grant Mitchell 1 collaboration

Hilary Vallance 1 collaboration

Jagdeep Walia 1 collaboration

Ashley Wilson 1 collaboration

Nataliya Yuskiv 1 collaboration

Carlos R Ferreira 1 collaboration

Wadih M Zein 1 collaboration

Laryssa A Huryn 1 collaboration

Andrea Merker 1 collaboration

Seth I Berger 1 collaboration

William G Wilson 1 collaboration

George E Tiller 1 collaboration

Lynne A Wolfe 1 collaboration

Melissa Merideth 1 collaboration

Daniel R Carvalho 1 collaboration

Angela L Duker 1 collaboration

Heiko Bratke 1 collaboration

Marte Gjøl Haug 1 collaboration

Luis Rohena 1 collaboration

Hanne B Hove 1 collaboration

Zhi-Jie Xia 1 collaboration

Bobby G Ng 1 collaboration

Hudson H Freeze 1 collaboration

Melissa Gabriel 1 collaboration

Alvaro H Serrano Russi 1 collaboration

Dawn L Earl 1 collaboration

Emma Tham 1 collaboration

Gen Nishimura 1 collaboration

John A Phillips 1 collaboration

William A Gahl 1 collaboration

Rizwan Hamid 1 collaboration

Andrew P Jackson 1 collaboration

Giedre Grigelioniene 1 collaboration

Michael B Bober 1 collaboration

Victor P Pedro 1 collaboration

Mouna Barat-Houari 1 collaboration

Nathalie Ruiz-Pallares 1 collaboration

Jean-Christophe Andrau 1 collaboration

Didier Lacombe 1 collaboration

Julien Van-Gils 1 collaboration

Patricia Fergelot 1 collaboration

Christèle Dubourg 1 collaboration

Valerie Cormier-Daire 1 collaboration

Sophie Rondeau 1 collaboration

François Lecoquierre 1 collaboration

Pascale Saugier-Veber 1 collaboration

Gaël Nicolas 1 collaboration

Gaetan Lesca 1 collaboration

Nicolas Chatron 1 collaboration

Damien Sanlaville 1 collaboration

Antonio Vitobello 1 collaboration

Laurence Faivre 1 collaboration

Christel Thauvin-Robinet 1 collaboration

Frederic Laumonnier 1 collaboration

Martine Raynaud 1 collaboration

Mariëlle Alders 1 collaboration

Marcel Mannens 1 collaboration

Peter Henneman 1 collaboration

Raoul C Hennekam 1 collaboration

Guillaume Velasco 1 collaboration

Claire Francastel 1 collaboration

Damien Ulveling 1 collaboration

Andrea Ciolfi 1 collaboration

Simone Pizzi 1 collaboration

Marco Tartaglia 1 collaboration

Delphine Héron 1 collaboration

Sandra Whalen 1 collaboration

Alexandra Afenjar 1 collaboration

Thierry Bienvenu 1 collaboration

Philippe M Campeau 1 collaboration

Justine Rousseau 1 collaboration

Tugce B Balci 1 collaboration

Mike Kadour 1 collaboration

Jennifer Masters 1 collaboration

Kyoko Takano 1 collaboration

Tjitske Kleefstra 1 collaboration

Nicole de Leeuw 1 collaboration

Michael Field 1 collaboration

Marie Shaw 1 collaboration

Jozef Gecz 1 collaboration

Michael J Friez 1 collaboration

Matt Tedder 1 collaboration

Jennifer A Lee 1 collaboration

Barbara R DuPont 1 collaboration

Roger E Stevenson 1 collaboration

Steven A Skinner 1 collaboration

David Genevieve 1 collaboration

Sangmoon Lee 1 collaboration

Dillon Y Chen 1 collaboration

Maha S Zaki 1 collaboration

Nataliya Di Donato 1 collaboration

Dalia Abdin 1 collaboration

Heba Morsy 1 collaboration

Ghayda M Mirzaa 1 collaboration

Jennifer McEvoy-Venneri 1 collaboration

Valentina Stanley 1 collaboration

Kiely N James 1 collaboration

Grazia M S Mancini 1 collaboration

Rachel Schot 1 collaboration

Tugba Kalayci 1 collaboration

Umut Altunoglu 1 collaboration

Yalda Jamshidi 1 collaboration

M Chiara Manzini 1 collaboration

Mehran Beiraghi Toosi 1 collaboration

Joseph G Gleeson 1 collaboration

Elena Perenthaler 1 collaboration

Anita Nikoncuk 1 collaboration

Soheil Yousefi 1 collaboration

Woutje M Berdowski 1 collaboration

Maysoon Alsagob 1 collaboration

Ivan Capo 1 collaboration

Herma C van der Linde 1 collaboration

Paul van den Berg 1 collaboration

Edwin H Jacobs 1 collaboration

Darija Putar 1 collaboration

Mehrnaz Ghazvini 1 collaboration

Eleonora Aronica 1 collaboration

Wilfred F J van IJcken 1 collaboration

Walter G de Valk 1 collaboration

Evita Medici-van den Herik 1 collaboration

Marjon van Slegtenhorst 1 collaboration

Jennefer N Kohler 1 collaboration

Jonathan A Bernstein 1 collaboration

Kristin G Monaghan 1 collaboration

Amber Begtrup 1 collaboration

Rebecca Torene 1 collaboration

Amna Al Futaisi 1 collaboration

Fathiya Al Murshedi 1 collaboration

Renjith Mani 1 collaboration

Faisal Al Azri 1 collaboration

Erik-Jan Kamsteeg 1 collaboration

Majid Mojarrad 1 collaboration

Atieh Eslahi 1 collaboration

Zaynab Khazaei 1 collaboration

Fateme Massinaei Darmiyan 1 collaboration

Mohammad Doosti 1 collaboration

Jana Vandrovcova 1 collaboration

Faisal Zafar 1 collaboration

Nuzhat Rana 1 collaboration

Krishna K Kandaswamy 1 collaboration

Jozef Hertecant 1 collaboration

Peter Bauer 1 collaboration

Mohammed A AlMuhaizea 1 collaboration

Mustafa A Salih 1 collaboration

Mazhor Aldosary 1 collaboration

Rawan Almass 1 collaboration

Laila Al-Quait 1 collaboration

Wafa Qubbaj 1 collaboration

Serdar Coskun 1 collaboration

Khaled O Alahmadi 1 collaboration

Muddathir H A Hamad 1 collaboration

Salem Alwadaee 1 collaboration

Khalid Awartani 1 collaboration

Anas M Dababo 1 collaboration

Futwan Almohanna 1 collaboration

Dilek Colak 1 collaboration

Mohammadreza Dehghani 1 collaboration

Mohammad Yahya Vahidi Mehrjardi 1 collaboration

Murat Gunel 1 collaboration

A Gulhan Ercan-Sencicek 1 collaboration

Gouri Rao Passi 1 collaboration

Huma Arshad Cheema 1 collaboration

Stephanie Efthymiou 1 collaboration

Aida M Bertoli-Avella 1 collaboration

Alice S Brooks 1 collaboration

Kyle Retterer 1 collaboration

Namik Kaya 1 collaboration

Tjakko J van Ham 1 collaboration

Tahsin Stefan Barakat 1 collaboration

Cagla Cömert 1 collaboration

Debbie Ang 1 collaboration

Johan Palmfeldt 1 collaboration

Brandon F Meaney 1 collaboration

Costa Georgopoulos 1 collaboration

Paula Fernandez-Guerra 1 collaboration

Peter Bross 1 collaboration

Ryan Iverson 1 collaboration

Monica Taljaard 1 collaboration

Nancy J Butcher 1 collaboration

Shailly Jain-Ghai 1 collaboration

Martin Offringa 1 collaboration

Kendra Tapscott 1 collaboration

Jagdeep S Walia 1 collaboration

Alexander M Holtz 1 collaboration

Rachel VanCoillie 1 collaboration

Elizabeth A Vansickle 1 collaboration

Kara Withrow 1 collaboration

Erin Torti 1 collaboration

Jane Juusola 1 collaboration

Francisca Millan 1 collaboration

Richard Person 1 collaboration

Maria J Guillen Sacoto 1 collaboration

Yue Si 1 collaboration

Ingrid M Wentzensen 1 collaboration

Jada Pugh 1 collaboration

Georgia Vasileiou 1 collaboration

Melissa Rieger 1 collaboration

André Reis 1 collaboration

Emanuela Argilli 1 collaboration

Elliott H Sherr 1 collaboration

Kimberly A Aldinger 1 collaboration

Theresa Brunet 1 collaboration

Julia Hoefele 1 collaboration

Matias Wagner 1 collaboration

Benjamin Haber 1 collaboration

Urania Kotzaeridou 1 collaboration

Delphine Heron 1 collaboration

Thomas Courtin 1 collaboration

Julien Buratti 1 collaboration

Serini Murugasen 1 collaboration

Kirsten A Donald 1 collaboration

Emily O'Heir 1 collaboration

Shade Moody 1 collaboration

Katherine H Kim 1 collaboration

Barbara K Burton 1 collaboration

Grace Yoon 1 collaboration

Miguel Del Campo 1 collaboration

Diane Masser-Frye 1 collaboration

Christina Parkinson 1 collaboration

Susan L Sell 1 collaboration

Patricia L Gordon 1 collaboration

Jeremy W Prokop 1 collaboration

Amel Karaa 1 collaboration

Caleb Bupp 1 collaboration

Benjamin A Raby 1 collaboration

Affiliations

Publications (10)

Expanding the Phenotype: Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements and Lactic Acidosis, With or Without Seizures (NEMMLAS) due to WARS2 Biallelic Variants, Encoding Mitochondrial Tryptophanyl-tRNA Synthase.

Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions.

Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network.

Defining the clinical phenotype of Saul-Wilson syndrome.

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.

Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay.

Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.

A recurrent de novo

Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.

Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.

Réseau de co-auteurs