Rob K Koenekoop

Affiliations

Departments of Ophthalmology, Human Genetics, and Pediatric Surgery, Montreal Children's Hospital, McGill University Health Centre, McGill University, Montreal, Quebec, Canada.

Publications (20)

Maternally inherited MAF variant associated with variable expression of Aymé-Gripp syndrome.

American journal of medical genetics. Part A

Avec: Ebba Alkhunaizi , Robert K Koenekoop , Christine Saint-Martin , Laura Russell

Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa.

American journal of human genetics

Avec: Suzanne E de Bruijn , Alessia Fiorentino , Daniele Ottaviani , Stephanie Fanucchi , Uirá S Melo , Julio C Corral-Serrano , Timo Mulders , Michalis Georgiou , Carlo Rivolta , Nikolas Pontikos , Gavin Arno , Lisa Roberts , Jacquie Greenberg , Silvia Albert , Christian Gilissen , Marco Aben , George Rebello , Simon Mead , F Lucy Raymond , Jordi Corominas , Claire E L Smith , Hannie Kremer , Susan Downes , Graeme C Black , Andrew R Webster , Chris F Inglehearn , L Ingeborgh van den Born , Robert K Koenekoop , Michel Michaelides , Raj S Ramesar , Carel B Hoyng , Stefan Mundlos , Musa M Mhlanga , Frans P M Cremers , Michael E Cheetham , Susanne Roosing , Alison J Hardcastle

Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration.

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

Avec: Ji Hoon Han , Kim Rodenburg , Tamar Hayman , Giacomo Calzetti , Karolina Kaminska , Mathieu Quinodoz , Molly Marra , Sandrine Wallerich , Gilad Allon , Zoltán Z Nagy , Krisztina Knézy , Yumei Li , Rui Chen , Mirella Telles Salgueiro Barboni , Paul Yang , Mark E Pennesi , L Ingeborgh van den Born , Balázs Varsányi , Viktória Szabó , Dror Sharon , Eyal Banin , Tamar Ben-Yosef , Susanne Roosing , Robert K Koenekoop , Carlo Rivolta

The Relationship Between Cognitive Status and Known Single Nucleotide Polymorphisms in Age-Related Macular Degeneration.

Frontiers in aging neuroscience

Avec: Caitlin Murphy , Aaron P Johnson , Robert K Koenekoop , William Seiple , Olga Overbury

Zellweger Spectrum Disorder: Ophthalmic Findings from a New Natural History Study Cohort and Scoping Literature Review.

Ophthalmology

Avec: Christine Yergeau , Razek G Coussa , Fares Antaki , Catherine Argyriou , Robert K Koenekoop , Nancy E Braverman

Probing mechanisms and improving management of glaucoma following Boston keratoprosthesis surgery.

Acta ophthalmologica

Avec: Dominique Geoffrion , Robert K Koenekoop , Mona Harissi-Dagher

Probing mechanisms and improving management of glaucoma following Boston keratoprosthesis surgery.

Acta ophthalmologica

Avec: Dominique Geoffrion , Robert K Koenekoop , Mona Harissi-Dagher

Properties and Therapeutic Implications of an Enigmatic D477G RPE65 Variant Associated with Autosomal Dominant Retinitis Pigmentosa.

Genes

Avec: Anna-Sophia Kiang , Paul F Kenna , Marian M Humphries , Ema Ozaki , Robert K Koenekoop , Matthew Campbell , G Jane Farrar , Pete Humphries

Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders.

Human mutation

Avec: Christina Zeitz , Christelle Michiels , Marion Neuillé , Christoph Friedburg , Christel Condroyer , Fiona Boyard , Aline Antonio , Nassima Bouzidi , Diana Milicevic , Robin Veaux , Aurore Tourville , Axelle Zoumba , Imene Seneina , Marine Foussard , Camille Andrieu , Markus N Preising , Steven Blanchard , Jean-Paul Saraiva , Lilia Mesrob , Edith Le Floch , Claire Jubin , Vincent Meyer , Hélène Blanché , Anne Boland , Jean-François Deleuze , Dror Sharon , Isabelle Drumare , Sabine Defoort-Dhellemmes , Elfride De Baere , Bart P Leroy , Xavier Zanlonghi , Ingele Casteels , Thomy J de Ravel , Irina Balikova , Rob K Koenekoop , Fanny Laffargue , Rebecca McLean , Irene Gottlob , Dominique Bonneau , Daniel F Schorderet , Francis L Munier , Martin McKibbin , Katrina Prescott , Valerie Pelletier , Hélène Dollfus , Yaumara Perdomo-Trujillo , Céline Faure , Charlotte Reiff , Bernd Wissinger , Isabelle Meunier , Susanne Kohl , Eyal Banin , Eberhart Zrenner , Bernhard Jurklies , Birgit Lorenz , José-Alain Sahel , Isabelle Audo

Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille Syndrome.

Investigative ophthalmology & visual science

Avec: Mariana Matioli da Palma , Austin D Igelman , Cristy Ku , Amanda Burr , Jia Yue You , Emily M Place , Nan-Kai Wang , Jin Kyun Oh , Kari E Branham , Xinxin Zhang , Jeeyun Ahn , Michael B Gorin , Byron L Lam , Cecinio C Ronquillo , Paul S Bernstein , Aaron Nagiel , Rachel Huckfeldt , Michelle T Cabrera , John P Kelly , Benjamin Bakall , Alessandro Iannaccone , Robert B Hufnagel , Wadih M Zein , Robert K Koenekoop , David G Birch , Paul Yang , Abigail T Fahim , Mark E Pennesi

Identification of autosomal recessive novel genes and retinal phenotypes in members of the solute carrier (SLC) superfamily.

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

Avec: Talya Millo , Antonio Rivera , Alexey Obolensky , Devora Marks-Ohana , Mingchu Xu , Yumei Li , Enosh Wilhelm , Prakadeeswari Gopalakrishnan , Menachem Gross , Boris Rosin , Mor Hanany , Andrew Webster , Anna Maria Tracewska , Robert K Koenekoop , Rui Chen , Gavin Arno , Ora Schueler-Furman , Susanne Roosing , Eyal Banin , Dror Sharon

Mutations in

Science advances

Avec: Maéva Langouët , Christine Jolicoeur , Awais Javed , Pierre Mattar , Micah D Gearhart , Stephen P Daiger , Mette Bertelsen , Lisbeth Tranebjærg , Nanna D Rendtorff , Karen Grønskov , Catherine Jespersgaard , Rui Chen , Zixi Sun , Hui Li , Najmeh Alirezaie , Jacek Majewski , Vivian J Bardwell , Ruifang Sui , Robert K Koenekoop , Michel Cayouette

Systematic assessment of the contribution of structural variants to inherited retinal diseases.

Human molecular genetics

Avec: Shu Wen , Meng Wang , Xinye Qian , Yumei Li , Keqing Wang , Jongsu Choi , Mark E Pennesi , Paul Yang , Molly Marra , Robert K Koenekoop , Irma Lopez , Anna Matynia , Michael Gorin , Ruifang Sui , Fengxia Yao , Kerry Goetz , Fernanda Belga Ottoni Porto , Rui Chen

Reliability of Semiautomated Kinetic Perimetry (SKP) and Goldmann Kinetic Perimetry in Children and Adults With Retinal Dystrophies.

Translational vision science & technology

Avec: Claire S Barnes , Ronald A Schuchard , David G Birch , Gislin Dagnelie , Leah Wood , Robert K Koenekoop , Ava K Bittner

Noncoding mutation in

Molecular vision

Avec: Gang Zou , Tao Zhang , Xuesen Cheng , Austin D Igelman , Jun Wang , Xinye Qian , Shangyi Fu , Keqing Wang , Robert K Koenekoop , Gerald A Fishman , Paul Yang , Yumei Li , Mark E Pennesi , Rui Chen

Tear Film Cytokine Profile of Patients With the Boston Keratoprosthesis Type 1: Comparing Patients With and Without Glaucoma.

Investigative ophthalmology & visual science

Avec: Dominique Geoffrion , Marie-Claude Robert , Adriana Di Polo , Robert K Koenekoop , Younes Agoumi , Mona Harissi-Dagher

LEBER CONGENITAL AMAUROSIS DUE TO CEP290 MUTATIONS-SEVERE VISION IMPAIRMENT WITH A HIGH UNMET MEDICAL NEED: A Review.

Retina (Philadelphia, Pa.)

Avec: Bart P Leroy , David G Birch , Jacque L Duncan , Byron L Lam , Robert K Koenekoop , Fernanda B O Porto , Stephen R Russell , Aniz Girach

PCDH12 variants are associated with basal ganglia anomalies and exudative vitreoretinopathy.

European journal of medical genetics

Avec: Andrea Accogli , Charbel El Kosseifi , Christine Saint-Martin , Nassima Addour-Boudrahem , Jean-Baptiste Rivière , Daniela Toffoli , Irma Lopez , Cynthia Qian , Robert K Koenekoop , Myriam Srour

Systematic assessment of the contribution of structural variants to inherited retinal diseases.

bioRxiv : the preprint server for biology

Comparative analysis of in-silico tools in identifying pathogenic variants in dominant inherited retinal diseases.

Human molecular genetics

Avec: Daniel C Brock , Meng Wang , Hafiz Muhammad Jafar Hussain , David E Rauch , Molly Marra , Mark E Pennesi , Paul Yang , Lesley Everett , Radwan S Ajlan , Jason Colbert , Fernanda Belga Ottoni Porto , Anna Matynia , Michael B Gorin , Robert K Koenekoop , Irma Lopez , Ruifang Sui , Gang Zou , Yumei Li , Rui Chen

Réseau de co-auteurs

Robert K Koenekoop 19 collaborations

Rui Chen 7 collaborations

Yumei Li 6 collaborations

Paul Yang 6 collaborations

Mark E Pennesi 6 collaborations

Molly Marra 4 collaborations

Ruifang Sui 4 collaborations

Irma Lopez 4 collaborations

Susanne Roosing 3 collaborations

Dror Sharon 3 collaborations

Eyal Banin 3 collaborations

Dominique Geoffrion 3 collaborations

Mona Harissi-Dagher 3 collaborations

David G Birch 3 collaborations

Meng Wang 3 collaborations

Xinye Qian 3 collaborations

Keqing Wang 3 collaborations

Anna Matynia 3 collaborations

Fernanda Belga Ottoni Porto 3 collaborations

Christine Saint-Martin 2 collaborations

Carlo Rivolta 2 collaborations

Gavin Arno 2 collaborations

L Ingeborgh van den Born 2 collaborations

Bart P Leroy 2 collaborations

Austin D Igelman 2 collaborations

Michael B Gorin 2 collaborations

Byron L Lam 2 collaborations

Shu Wen 2 collaborations

Jongsu Choi 2 collaborations

Michael Gorin 2 collaborations

Fengxia Yao 2 collaborations

Kerry Goetz 2 collaborations

Gang Zou 2 collaborations

Ebba Alkhunaizi 1 collaboration

Laura Russell 1 collaboration

Suzanne E de Bruijn 1 collaboration

Alessia Fiorentino 1 collaboration

Daniele Ottaviani 1 collaboration

Stephanie Fanucchi 1 collaboration

Uirá S Melo 1 collaboration

Julio C Corral-Serrano 1 collaboration

Timo Mulders 1 collaboration

Michalis Georgiou 1 collaboration

Nikolas Pontikos 1 collaboration

Lisa Roberts 1 collaboration

Jacquie Greenberg 1 collaboration

Silvia Albert 1 collaboration

Christian Gilissen 1 collaboration

Marco Aben 1 collaboration

George Rebello 1 collaboration

Simon Mead 1 collaboration

F Lucy Raymond 1 collaboration

Jordi Corominas 1 collaboration

Claire E L Smith 1 collaboration

Hannie Kremer 1 collaboration

Susan Downes 1 collaboration

Graeme C Black 1 collaboration

Andrew R Webster 1 collaboration

Chris F Inglehearn 1 collaboration

Michel Michaelides 1 collaboration

Raj S Ramesar 1 collaboration

Carel B Hoyng 1 collaboration

Stefan Mundlos 1 collaboration

Musa M Mhlanga 1 collaboration

Frans P M Cremers 1 collaboration

Michael E Cheetham 1 collaboration

Alison J Hardcastle 1 collaboration

Ji Hoon Han 1 collaboration

Kim Rodenburg 1 collaboration

Tamar Hayman 1 collaboration

Giacomo Calzetti 1 collaboration

Karolina Kaminska 1 collaboration

Mathieu Quinodoz 1 collaboration

Sandrine Wallerich 1 collaboration

Gilad Allon 1 collaboration

Zoltán Z Nagy 1 collaboration

Krisztina Knézy 1 collaboration

Mirella Telles Salgueiro Barboni 1 collaboration

Balázs Varsányi 1 collaboration

Viktória Szabó 1 collaboration

Tamar Ben-Yosef 1 collaboration

Caitlin Murphy 1 collaboration

Aaron P Johnson 1 collaboration

William Seiple 1 collaboration

Olga Overbury 1 collaboration

Christine Yergeau 1 collaboration

Razek G Coussa 1 collaboration

Fares Antaki 1 collaboration

Catherine Argyriou 1 collaboration

Nancy E Braverman 1 collaboration

Anna-Sophia Kiang 1 collaboration

Paul F Kenna 1 collaboration

Marian M Humphries 1 collaboration

Ema Ozaki 1 collaboration

Matthew Campbell 1 collaboration

G Jane Farrar 1 collaboration

Pete Humphries 1 collaboration

Christina Zeitz 1 collaboration

Christelle Michiels 1 collaboration

Marion Neuillé 1 collaboration

Christoph Friedburg 1 collaboration

Christel Condroyer 1 collaboration

Fiona Boyard 1 collaboration

Aline Antonio 1 collaboration

Nassima Bouzidi 1 collaboration

Diana Milicevic 1 collaboration

Robin Veaux 1 collaboration

Aurore Tourville 1 collaboration

Axelle Zoumba 1 collaboration

Imene Seneina 1 collaboration

Marine Foussard 1 collaboration

Camille Andrieu 1 collaboration

Markus N Preising 1 collaboration

Steven Blanchard 1 collaboration

Jean-Paul Saraiva 1 collaboration

Lilia Mesrob 1 collaboration

Edith Le Floch 1 collaboration

Claire Jubin 1 collaboration

Vincent Meyer 1 collaboration

Hélène Blanché 1 collaboration

Anne Boland 1 collaboration

Jean-François Deleuze 1 collaboration

Isabelle Drumare 1 collaboration

Sabine Defoort-Dhellemmes 1 collaboration

Elfride De Baere 1 collaboration

Xavier Zanlonghi 1 collaboration

Ingele Casteels 1 collaboration

Thomy J de Ravel 1 collaboration

Irina Balikova 1 collaboration

Fanny Laffargue 1 collaboration

Rebecca McLean 1 collaboration

Irene Gottlob 1 collaboration

Dominique Bonneau 1 collaboration

Daniel F Schorderet 1 collaboration

Francis L Munier 1 collaboration

Martin McKibbin 1 collaboration

Katrina Prescott 1 collaboration

Valerie Pelletier 1 collaboration

Hélène Dollfus 1 collaboration

Yaumara Perdomo-Trujillo 1 collaboration

Céline Faure 1 collaboration

Charlotte Reiff 1 collaboration

Bernd Wissinger 1 collaboration

Isabelle Meunier 1 collaboration

Susanne Kohl 1 collaboration

Eberhart Zrenner 1 collaboration

Bernhard Jurklies 1 collaboration

Birgit Lorenz 1 collaboration

José-Alain Sahel 1 collaboration

Isabelle Audo 1 collaboration

Mariana Matioli da Palma 1 collaboration

Cristy Ku 1 collaboration

Amanda Burr 1 collaboration

Jia Yue You 1 collaboration

Emily M Place 1 collaboration

Nan-Kai Wang 1 collaboration

Jin Kyun Oh 1 collaboration

Kari E Branham 1 collaboration

Xinxin Zhang 1 collaboration

Jeeyun Ahn 1 collaboration

Cecinio C Ronquillo 1 collaboration

Paul S Bernstein 1 collaboration

Aaron Nagiel 1 collaboration

Rachel Huckfeldt 1 collaboration

Michelle T Cabrera 1 collaboration

John P Kelly 1 collaboration

Benjamin Bakall 1 collaboration

Alessandro Iannaccone 1 collaboration

Robert B Hufnagel 1 collaboration

Wadih M Zein 1 collaboration

Abigail T Fahim 1 collaboration

Talya Millo 1 collaboration

Antonio Rivera 1 collaboration

Alexey Obolensky 1 collaboration

Devora Marks-Ohana 1 collaboration

Mingchu Xu 1 collaboration

Enosh Wilhelm 1 collaboration

Prakadeeswari Gopalakrishnan 1 collaboration

Menachem Gross 1 collaboration

Boris Rosin 1 collaboration

Mor Hanany 1 collaboration

Andrew Webster 1 collaboration

Anna Maria Tracewska 1 collaboration

Ora Schueler-Furman 1 collaboration

Maéva Langouët 1 collaboration

Christine Jolicoeur 1 collaboration

Awais Javed 1 collaboration

Pierre Mattar 1 collaboration

Micah D Gearhart 1 collaboration

Stephen P Daiger 1 collaboration

Mette Bertelsen 1 collaboration

Lisbeth Tranebjærg 1 collaboration

Nanna D Rendtorff 1 collaboration

Karen Grønskov 1 collaboration

Catherine Jespersgaard 1 collaboration

Zixi Sun 1 collaboration

Hui Li 1 collaboration

Najmeh Alirezaie 1 collaboration

Jacek Majewski 1 collaboration

Vivian J Bardwell 1 collaboration

Michel Cayouette 1 collaboration

Claire S Barnes 1 collaboration

Ronald A Schuchard 1 collaboration

Gislin Dagnelie 1 collaboration

Leah Wood 1 collaboration

Ava K Bittner 1 collaboration

Tao Zhang 1 collaboration

Xuesen Cheng 1 collaboration

Jun Wang 1 collaboration

Shangyi Fu 1 collaboration

Gerald A Fishman 1 collaboration

Marie-Claude Robert 1 collaboration

Adriana Di Polo 1 collaboration

Younes Agoumi 1 collaboration

Jacque L Duncan 1 collaboration

Fernanda B O Porto 1 collaboration

Stephen R Russell 1 collaboration

Aniz Girach 1 collaboration

Andrea Accogli 1 collaboration

Charbel El Kosseifi 1 collaboration

Nassima Addour-Boudrahem 1 collaboration

Jean-Baptiste Rivière 1 collaboration

Daniela Toffoli 1 collaboration

Cynthia Qian 1 collaboration

Myriam Srour 1 collaboration

Daniel C Brock 1 collaboration

Hafiz Muhammad Jafar Hussain 1 collaboration

David E Rauch 1 collaboration

Lesley Everett 1 collaboration

Radwan S Ajlan 1 collaboration

Jason Colbert 1 collaboration