R
Robert K. Koenekoop
Researcher at McGill University Health Centre
Publications - 192
Citations - 10727
Robert K. Koenekoop is an academic researcher from McGill University Health Centre. The author has contributed to research in topics: Retinitis pigmentosa & Retinal degeneration. The author has an hindex of 54, co-authored 183 publications receiving 9574 citations. Previous affiliations of Robert K. Koenekoop include Boston Children's Hospital & Johns Hopkins University.
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Journal ArticleDOI
Leber congenital amaurosis: genes, proteins and disease mechanisms.
TL;DR: Linkage analysis, homozygosity mapping and candidate gene analysis facilitated the identification of 14 genes mutated in patients with LCA and juvenile retinal degeneration, which together explain approximately 70% of the cases.
Journal ArticleDOI
Mutations in the CEP290 (NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis
Anneke I. den Hollander,Robert K. Koenekoop,Suzanne Yzer,Irma Lopez,Maarten L. Arends,Krysta Voesenek,Marijke N. Zonneveld,Tim M. Strom,Thomas Meitinger,Han G. Brunner,Carel B. Hoyng,L. Ingeborgh van den Born,Klaus Rohrschneider,Frans P.M. Cremers +13 more
TL;DR: The CEP290 mutations represent one of the most frequent causes of LCA identified so far and are localized in a consanguineous LCA-affected family from Quebec and identified a splice defect in a gene encoding a centrosomal protein (CEP290).
Journal ArticleDOI
Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling
Moumita Chaki,Rannar Airik,Amiya K. Ghosh,Rachel H. Giles,Rui Chen,Gisela G. Slaats,Hui Wang,Toby W. Hurd,Weibin Zhou,Andrew Cluckey,Heon Yung Gee,Gokul Ramaswami,Chen Jei Hong,Bruce A. Hamilton,Igor Cervenka,Ranjani Sri Ganji,Vitezslav Bryja,Vitezslav Bryja,Heleen H. Arts,Jeroen van Reeuwijk,Machteld M. Oud,Stef J.F. Letteboer,Ronald Roepman,Hervé Husson,Oxana Ibraghimov-Beskrovnaya,Takayuki Yasunaga,Gerd Walz,Lorraine Eley,John A. Sayer,Bernhard Schermer,Max C. Liebau,Thomas Benzing,Stéphanie Le Corre,Iain A. Drummond,Sabine Janssen,Susan J. Allen,Sivakumar Natarajan,John F. O’Toole,Massimo Attanasio,Sophie Saunier,Corinne Antignac,Robert K. Koenekoop,Huanan Ren,Irma Lopez,Ahmet Nayir,Corinne Stoetzel,Hélène Dollfus,Rustin Massoudi,Joseph G. Gleeson,Sharon P. Andreoli,Dan G. Doherty,Anna Lindstrad,Christelle Golzio,Nicholas Katsanis,Lars Pape,Emad B. Abboud,Ali A. Al-Rajhi,Richard A. Lewis,Heymut Omran,Eva Y.-H. P. Lee,Shaohui Wang,JoAnn Sekiguchi,Rudel A. Saunders,Colin A. Johnson,Elizabeth Garner,K. Vanselow,Jens S. Andersen,Joseph Shlomai,Gudrun Nürnberg,Peter Nürnberg,Shawn Levy,Agata Smogorzewska,Edgar A. Otto,Friedhelm Hildebrandt,Friedhelm Hildebrandt +74 more
TL;DR: It is shown that knockdown of CEP164 or ZNF423 causes sensitivity to DNA damaging agents and that cep164 knockdown in zebrafish results in dysregulated DDR and an NPHP-RC phenotype, and these findings link degenerative diseases of the kidney and retina, disorders of increasing prevalence, to mechanisms of DDR.
Journal ArticleDOI
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy
Edgar A. Otto,Toby W. Hurd,Rannar Airik,Moumita Chaki,Weibin Zhou,Corinne Stoetzel,Suresh B. Patil,Shawn Levy,Amiya K. Ghosh,Carlos Murga-Zamalloa,Jeroen van Reeuwijk,Stef J.F. Letteboer,Liyun Sang,Rachel H. Giles,Qin Liu,Karlien L.M. Coene,Alejandro Estrada-Cuzcano,Rob W.J. Collin,Heather M. McLaughlin,Susanne Held,Jennifer M. Kasanuki,Gokul Ramaswami,Jinny Conte,Irma Lopez,Joseph Washburn,James W. MacDonald,Jinghua Hu,Yukiko M. Yamashita,Eamonn R. Maher,Lisa M. Guay-Woodford,Hartmut P. H. Neumann,Nicholas Obermüller,Robert K. Koenekoop,Carsten Bergmann,Xiaoshu Bei,Richard A. Lewis,Nicholas Katsanis,Vanda S. Lopes,David S. Williams,Robert H. Lyons,Chi V. Dang,Daniela A Brito,Mónica Bettencourt Dias,Xinmin Zhang,James D. Cavalcoli,Gudrun Nürnberg,Peter Nürnberg,Eric A. Pierce,Peter K. Jackson,Corinne Antignac,Sophie Saunier,Ronald Roepman,Hélène Dollfus,Hemant Khanna,Friedhelm Hildebrandt +54 more
TL;DR: This work identifies loss of SDCCAG8 function as a cause of a retinal-renal ciliopathy and validates exome capture analysis for broadly heterogeneous single-gene disorders.
Journal ArticleDOI
Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.
Sara L. Sawyer,Taila Hartley,David A. Dyment,Chandree L. Beaulieu,Jeremy Schwartzentruber,Amanda C. Smith,H M Bedford,Geneviève Bernard,Francois P. Bernier,Bernard Brais,Dennis E. Bulman,J. Warman Chardon,David Chitayat,Johnny Deladoëy,Bridget A. Fernandez,Patrick Frosk,Michael T. Geraghty,Brenda Gerull,William T. Gibson,Robert M. Gow,Gail E. Graham,Jane Green,Elise Héon,Gabriella Horvath,A.M. Innes,Nada Jabado,Raymond H. Kim,Robert K. Koenekoop,Aneal Khan,Ordan J. Lehmann,Roberto Mendoza-Londono,Jacques L. Michaud,Sarah M. Nikkel,L S Penney,Constantin Polychronakos,Julie Richer,Guy A. Rouleau,Mark E. Samuels,Victoria Mok Siu,Oksana Suchowersky,Mark A. Tarnopolsky,Grace Yoon,Farah R. Zahir,Jacek Majewski,Kym M. Boycott +44 more
TL;DR: The analysis of this dataset showed that these known disease genes were not identified prior to WES enrollment for two key reasons: genetic heterogeneity associated with a clinical diagnosis and atypical presentation of known, clinically recognized diseases.