Cornelius F. Boerkoel
PhD, MD
Investigator, BC Children's Hospital
American Journal of Medical Genetics Part A
Ana Acosta Bedn and Vahid Akbari and Ralph Rothstein and Alexandra Inman and Sanjiv Bhalla and Jianghong An and Jan M. Friedman and Rosanna Weksberg and Cornelius Boerkoel and Steven J. M. Jones and William T. Gibson
DOI: 10.1002/ajmga.7000804 / 2026
American Journal of Medical Genetics Part A
Jade Hudson and Stephanie Hyunh and Bojana Rakic and Cornelius Boerkoel
DOI: 10.1002/ajmga.7002504 / 2026
American Journal of Medical Genetics Part A
Duha Hejla and Stephanie Huynh and Simran Samra and Phillip A. Richmond and Joshua Dalmann and Kate L. Del Bel and Loryn Byres and Anna Lehman and Stuart E. Turvey and Cornelius F. Boerkoel
DOI: 10.1002/ajmg.a.6354806 / 2024
Neurology Genetics
Adrienne Elbert and Katherine Dixon and Yaoqing Shen and Sara Hamilton and Cornelius F. Boerkoel and Steven J. Jones and Anish K. Kanungo
DOI: 10.1212/NXG.000000000020011402 / 2024
American Journal of Medical Genetics Part A
Daniela Di Francesco and Anne Swenerton and Wenhui Laura Li and Christopher Dunham and Glenda Hendson and Cornelius F. Boerkoel
DOI: 10.1002/ajmg.a.6338712 / 2023
American Journal of Medical Genetics Part A
Ashley Moller-Hansen and Duha Hejla and Hyun Kyung Lee and Jenea Barbara Lyles and Yunhan Yang and Kun Chen and Wenhui Laura Li and Gary Thomas and Cornelius F. Boerkoel
DOI: 10.1002/ajmg.a.6323208 / 2023
Frontiers in Medicine
Julia Handra and Adrienne Elbert and Nour Gazzaz and Ashley Moller-Hansen and Stephanie Hyunh and Hyun Kyung Lee and Pierre Boerkoel and Emily Alderman and Erin Anderson and Lorne Clarke and Sara Hamilton and Ronnalea Hamman and Shevaun Hughes and Simon Ip and Sylvie Langlois and Mary Lee and Laura Li and Frannie Mackenzie and Millan S. Patel and Leah M. Prentice and Karan Sangha and Laura Sato and Kimberly Seath and Margaret Seppelt and Anne Swenerton and Lynn Warnock and Jessica L. Zambonin and Cornelius F. Boerkoel and Hui-Lin Chin and Linlea Armstrong
DOI: 10.3389/fmed.2022.107134801 / 2023
Genetics in Medicine
Hui-Lin Chin and Nour Gazzaz and Stephanie Huynh and Iulia Handra and Lynn Warnock and Ashley Moller-Hansen and Pierre Boerkoel and Julius O.B. Jacobsen and Christle du Souich and Nan Zhang and Kent Shefchek and Leah M. Prentice and Nicole Washington and Melissa Haendel and Linlea Armstrong and Lorne Clarke and Wenhui Laura Li and Damian Smedley and Peter N. Robinson and Cornelius F. Boerkoel
DOI: 10.1016/j.gim.2022.03.01304 / 2022
American Journal of Medical Genetics Part A
Hui-Lin Chin and Stephanie Huynh and Jahanshah Ashkani and Michael Castaldo and Katherine Dixon and Kathryn Selby and Yaoqing Shen and Marie Wright and Cornelius F. Boerkoel and Glenda Hendson and Steven J. M. Jones
DOI: 10.1002/ajmg.a.6257803 / 2022
American Journal of Medical Genetics Part A
Pierre K. Boerkoel and Katherine Dixon and Carrie Fitzsimons and Yaoqing Shen and Stephanie Huynh and Kamilla Schlade-Bartusiak and Luka Culibrk and Simon Chan and Cornelius F. Boerkoel and Steven J. M. Jones and Hui-Lin Chin
DOI: 10.1002/ajmg.a.6267602 / 2022
Molecular Case Studies
Courtney B. Cook and Linlea Armstrong and Cornelius F. Boerkoel and Lorne A. Clarke and Christle du Souich and Michelle K. Demos and William T. Gibson and Harinder Gill and Elena Lopez and Millan S. Patel and Kathryn Selby and Ziad Abu-Sharar and Alison M. Elliott and Jan M. Friedman
DOI: 10.1101/mcs.a00612512 / 2021
American Journal of Medical Genetics Part A
Ashley Moller-Hansen and Stephanie Huynh and Cornelius F. Boerkoel and Hui-Lin Chin
DOI: 10.1002/ajmg.a.6251009 / 2021
American Journal of Medical Genetics Part A
Hui-Lin Chin and Kieran O'Neill and Kristal Louie and Lindsay Brown and Kamilla Schlade-Bartusiak and Patrice Eydoux and Rosemarie Rupps and Ali Farahani and Cornelius F. Boerkoel and Steven J. M. Jones
DOI: 10.1002/ajmg.a.6234908 / 2021
Molecular Genetics and Metabolism
Brandon Chalazan and Hui-Lin Chin and Nour Gazzaz and Stephanie Huynh and Neal Boerkoel
DOI: 10.1016/s1096-7192(21)00313-904 / 2021
Molecular Genetics and Metabolism
Nour Gazzaz and Stephanie Hyunh and Ashley Moller-Hansen and Brandon Chalazan and Neal Boerkoel and Hui-Lin Chin
DOI: 10.1016/s1096-7192(21)00306-104 / 2021
Molecular Genetics and Metabolism
Stephanie Huynh and Alexandra Olmos Perez and Alice Virani and Brandon Chalazan and Nour Gazzaz and Cornelius Boerkoel and Steven Jones and Hui-Lin Chin
DOI: 10.1016/s1096-7192(21)00551-504 / 2021
Molecular Genetics and Metabolism
Hui-Lin Chin and Nour Gazzaz and Brandon Chalazan and Ashley Moller-Hansen and Laura Li and Stephanie Huynh and Neal Boerkoel
DOI: 10.1016/s1096-7192(21)00350-404 / 2021
Journal of Cellular and Molecular Medicine
F. Graeme Frost and Praveen F. Cherukuri and Samuel Milanovich and Cornelius F. Boerkoel
DOI: 10.1111/jcmm.1474601 / 2020
Journal of Dental Research
X. Duan and S. Yang and H. Zhang and J. Wu and Y. Zhang and D. Ji and L. Tie and C.F. Boerkoel
DOI: 10.1177/002203451985497306 / 2019
Translational Research
Mariska Davids and Megan S. Kane and Lynne A. Wolfe and Camilo Toro and Cynthia J. Tifft and David Adams and Xueli Li and Mohd A. Raihan and Miao He and William A. Gahl and Cornelius F. Boerkoel and May Christine V. Malicdan
DOI: 10.1016/j.trsl.2018.10.00504 / 2019
Scientific Reports
Hok Khim Fam and Kunho Choi and Lauren Fougner and Chinten James Lim and Cornelius F. Boerkoel
DOI: 10.1038/s41598-018-22547-803 / 2018
American Journal of Medical Genetics Part A
Angela Myers and Christle du Souich and Connie L. Yang and Lior Borovik and Jill Mwenifumbo and Rosemarie Rupps and CAUSES Study and Anna Lehman and Cornelius F. Boerkoel
DOI: 10.1002/ajmg.a.3846212 / 2017
Genetics in Medicine
Elizabeth M.J. Lee and Karen Xu and Emma Mosbrook and Amanda Links and Jessica Guzman and David R. Adams and Elise Flynn and Elise Valkanas and Camillo Toro and Cynthia J. Tifft and Cornelius F. Boerkoel and William A. Gahl and Murat Sincan
DOI: 10.1038/gim.2016.4712 / 2016
Nucleus
Marie Morimoto and Kunho Choi and Cornelius F. Boerkoel and Kyoung Sang Cho
DOI: 10.1080/19491034.2016.125583511 / 2016
American Journal of Medical Genetics Part A
Elise Valkanas and Katherine Schaffer and Christopher Dunham and Valerie Maduro and Christle du Souich and Rosemarie Rupps and David R. Adams and Alireza Baradaran-Heravi and Elise Flynn and May C. Malicdan and William A. Gahl and Camilo Toro and Cornelius F. Boerkoel
DOI: 10.1002/ajmg.a.3792908 / 2016
The American Journal of Human Genetics
MeganS. Kane and Mariska Davids and Christopher Adams and LynneA. Wolfe and HelenW. Cheung and Andrea Gropman and Yan Huang and BobbyG. Ng and HudsonH. Freeze and DavidR. Adams and WilliamA. Gahl and CorneliusF. Boerkoel
DOI: 10.1016/j.ajhg.2015.12.00702 / 2016
Acta Ophthalmologica
L. Welinder and J.M. Robitaille and C.F. Boerkoel and R. Rupps and C. Lyons
DOI: 10.1111/j.1755-3768.2015.162809 / 2015
Pediatric Research
Marie Morimoto and Karen J. Wang and Zhongxin Yu and Andrew K. Gormley and David Parham and Radovan Bogdanovic and Thomas Lcke and Christy Mayfield and Rosanna Weksberg and Glenda Hendson and Cornelius F. Boerkoel
DOI: 10.1038/pr.2015.15608 / 2015
Ophthalmic Genetics
Lotte G. Welinder and Johane M. Robitaille and Rosemarie Rupps and Cornelius F. Boerkoel and Christopher J. Lyons
DOI: 10.3109/13816810.2015.101624005 / 2015
Journal of Medical Genetics
Mariska Davids and Megan S Kane and Miao He and Lynne A Wolfe and Xueli Li and Mohd A Raihan and Katherine R Chao and William P Bone and Cornelius F Boerkoel and William A Gahl and Camilo Toro
DOI: 10.1136/jmedgenet-2015-103338American Journal of Medical Genetics Part A
Parisa Hemati and Christle du Souich and Cornelius F. Boerkoel
DOI: 10.1002/ajmg.a.3682110 / 2014
Nucleus
Carol E. Bansbach and Cornelius F. Boerkoel and David Cortez
DOI: 10.4161/nucl.1173910 / 2014
Orphanet Journal of Rare Diseases
Cristina Dias and Rosemarie Rupps and Benjamin Millar and Kunho Choi and Marco Marra and Michelle Demos and Lisa E Kratz and Cornelius F Boerkoel
DOI: 10.1186/1750-1172-9-9406 / 2014
American Journal of Medical Genetics Part A
Michael Tzeng and Christle du Souich and Helen Wing-Hong Cheung and Cornelius F. Boerkoel
DOI: 10.1002/ajmg.a.3653304 / 2014
American Journal of Medical Genetics Part A
Lindsay A. Brown and Rosemarie Rupps and Maria S. Peaherrera and Wendy P. Robinson and Millan S. Patel and Patrice Eydoux and Cornelius F. Boerkoel
DOI: 10.1002/ajmg.a.3649003 / 2014
SLAS Discovery
Richard A. Dean and Hok Khim Fam and Jianghong An and Kunho Choi and Yoko Shimizu and Steven J.M. Jones and Cornelius F. Boerkoel and Heidrun Interthal and Tom A. Pfeifer
DOI: 10.1177/1087057114546551Mitochondrion
Hok Khim Fam and Miraj K. Chowdhury and Cheryl Walton and Kunho Choi and Glenda Hendson and Cornelius F. Boerkoel
DOI: 10.1016/j.mito.2013.07.04811 / 2013
American Journal of Medical Genetics Part A
Alireza Baradaran-Heravi and Jonas Lange and Yumi Asakura and Pierre Cochat and Laura Massella and Cornelius F. Boerkoel
DOI: 10.1002/ajmg.a.3611108 / 2013
Molecular Cancer Research
Hok Khim Fam and Cheryl Walton and Sheetal A. Mitra and Miraj Chowdhury and Nichola Osborne and Kunho Choi and Guobin Sun and Patrick C.W. Wong and Maureen J. O'Sullivan and Gulisa Turashvili and Samuel Aparicio and Timothy J. Triche and Mason Bond and Catherine J. Pallen and Cornelius F. Boerkoel
DOI: 10.1158/1541-7786.mcr-12-057508 / 2013
Frontiers of Medicine
Xiaohong Duan and Thomas Markello and David Adams and Camilo Toro and Cynthia Tifft and William A. Gahl and Cornelius F. Boerkoel
DOI: 10.1007/s11684-013-0281-307 / 2013
Biology
Marie Morimoto and Cornelius Boerkoel
DOI: 10.3390/biology203097607 / 2013
Advances in Genome Science: Changing Views on Living Organisms
Alireza Baradaran-Heravi and Leah I. Elizondo and Cornelius F. Boerkoel
DOI: 10.2174/978160805129811301000804 / 2013
Journal of Molecular Histology
Hok Khim Fam and Miraj K. Chowdhury and Cheryl Walton and Kunho Choi and Cornelius F. Boerkoel and Glenda Hendson
DOI: 10.1007/s10735-013-9496-503 / 2013
Molecular Genetics and Metabolism
Jacqueline Brady and Aditi Trehan and Rena Godfrey and Cynthia Tifft and Cornelius Boerkoel and Dennis Landis and Camilo Toro
DOI: 10.1016/j.ymgme.2012.11.04202 / 2013
Molecular Genetics and Metabolism
Aditi Trehan and Jacqueline Brady and Colleen Wahl and Cornelius Boerkoel and Camilo Toro and Cynthia Tifft
DOI: 10.1016/j.ymgme.2012.11.25202 / 2013
Case Reports
C. M. Holloman and L. A. Wolfe and W. A. Gahl and C. F. Boerkoel
DOI: 10.1136/bcr-2012-00727202 / 2013
American Journal of Medical Genetics Part A
Karen Y. Niederhoffer and Maria Peaherrera and Denise Pugash and Rosemarie Rupps and Laura Arbour and Francine Tessier and Sanaa Choufani and Chunhua Zhao and Irina Manokhina and Cheryl Shuman and Wendy P. Robinson and Rosanna Weksberg and Cornelius F. Boerkoel
DOI: 10.1002/ajmg.a.3537705 / 2012
Human Mutation
David R. Adams and Murat Sincan and Karin Fuentes Fajardo and James C. Mullikin and Tyler M. Pierson and Camilo Toro and Cornelius F. Boerkoel and Cynthia J. Tifft and William A. Gahl and Tom C. Markello
DOI: 10.1002/humu.2203502 / 2012
European Journal of Medical Genetics
Cherry Mammen and Rosemarie Rupps and Peter Trnka and Cornelius F. Boerkoel
DOI: 10.1016/j.ejmg.2011.12.00602 / 2012
Human Mutation
Murat Sincan and Dimitre R Simeonov and David Adams and Thomas C. Markello and Tyler M. Pierson and Camilo Toro and William A. Gahl and Cornelius F. Boerkoel
DOI: 10.1002/humu.2203402 / 2012
Disease Models & Mechanisms
William A. Gahl and Cornelius F. Boerkoel and Manfred Boehm
DOI: 10.1242/dmm.00925801 / 2012
Journal of Molecular Histology
Marie Morimoto and Christle du Souich and Joanne Trinh and Keith W. McLarren and Cornelius F. Boerkoel and Glenda Hendson
DOI: 10.1007/s10735-011-9375-x11 / 2011
American Journal of Medical Genetics Part A
A. Buck and C. du Souich and Cornelius F. Boerkoel
DOI: 10.1002/ajmg.a.3433311 / 2011
Pediatric Rheumatology
Jakub Zieg and Anna Krepelova and Alireza Baradaran-Heravi and Elena Levtchenko and Encarna Guilln-Navarro and Miroslava Balascakova and Martina Sukova and Tomas Seeman and Jiri Dusek and Nadezda Simankova and Tomas Rosik and Sylva Skalova and Jan Lebl and Cornelius F Boerkoel
DOI: 10.1186/1546-0096-9-2709 / 2011
Clinical Genetics
AM Lehman and C du Souich and D Chai and P Eydoux and JL Huang and AK Fok and L Avila and J Swingland and AD Delaney and B McGillivray and D Goldowitz and B Argiropoulos and MS Kobor and CF Boerkoel
DOI: 10.1111/j.1399-0004.2010.01615.x01 / 2011
Blood
Mrinmoy Sanyal and Kira Y Dionis and Alireza Baradaran-Heravi and Benjamin Dekel and Arend Bokenkamp and Cornelius F. Boerkoel and David B. Lewis
DOI: 10.1182/blood.v116.21.2767.276711 / 2010
Clinical Dysmorphology
Jennifer Vassel and Rosemarie Rupps and Deborah Krakow and Narman Puvanachandra and Jane A. Gardiner and Sharon R. Lazeo and Cornelius F. Boerkoel
DOI: 10.1097/mcd.0b013e328339873010 / 2010
Nucleus
Carol E. Bansbach and Cornelius F. Boerkoel and David Cortez
DOI: 10.4161/nucl.1.3.1173905 / 2010
American Journal of Medical Genetics Part A
Maria S. Peaherrera and Susanne Weindler and Margot I. Van Allen and Siu-Li Yong and Daniel L. Metzger and Barbara McGillivray and Cornelius Boerkoel and Sylvie Langlois and Wendy P. Robinson
DOI: 10.1002/ajmg.a.3320402 / 2010
Advances in Experimental Medicine and Biology
Cheryl Walton and Heidrun Interthal and Ryuki Hirano and Mustafa A. M. Salih and Hiroshi Takashima and Cornelius F. Boerkoel
DOI: 10.1007/978-1-4419-6448-9_7Clinical Genetics
A Chou and C Boerkoel and C du Souich and R Rupps
DOI: 10.1111/j.1399-0004.2009.01206.x08 / 2009
American Journal of Medical Genetics Part A
Christle du Souich and Jehannine C. Austin and Robin Friedlander and Cornelius F. Boerkoel
DOI: 10.1002/ajmg.a.3270902 / 2009
Molecular Genetics and Metabolism
David Cunningham and Kaitlyn Spychala and Keith W. McLarren and Luis A. Garza and Cornelius F. Boerkoel and Gail E. Herman
DOI: 10.1016/j.ymgme.2009.06.016American Journal of Medical Genetics Part A
Alireza Baradaran-Heravi and Christian Thiel and Anita Rauch and Martin Zenker and Cornelius F. Boerkoel and Ilkka Kaitila
DOI: 10.1002/ajmg.a.3240608 / 2008
Transplantation
L Pape and N Kanzelmeyer and A Baradaran-Heravi and C Boerkoel and M Burg and J Ehrich and T Lcke
DOI: 10.1097/01.tp.0000330742.09471.4807 / 2008
American Journal of Medical Genetics Part A
Nicola Brunetti-Pierri and Jill V. Hunter and Cornelius F. Boerkoel
DOI: 10.1002/ajmg.a.3157301 / 2007
Acta Paediatrica
RP Jankov and CF Boerkoel and J Hellmann and WL Sirkin and Z Tumer and N Horn and A Feigenbaum
DOI: 10.1111/j.1651-2227.1998.tb00955.x01 / 2007
American Journal of Medical Genetics Part A
Thomas Lcke and Johanna M. Clewing and Cornelius F. Boerkoel and Hans Hartmann and Anibh M. Das and Michael Knauth and Hartmut Becker and Frank Donnerstag
DOI: 10.1002/ajmg.a.31878Hormone and Metabolic Research
T. Lcke and D. Tsikas and N. Kanzelmeyer and C. Boerkoel and J. Clewing and B. Vaske and J. Ehrich and A. Das
DOI: 10.1055/s-2006-95458410 / 2006
Neuropediatrics
T Lcke and JM Clewing and CF Boerkoel and H Hartmann and AM Das and M Knauth and H Becker and F Donnerstag
DOI: 10.1055/s-2006-95360009 / 2006
American Journal of Medical Genetics Part A
P.A. Lennon and C.F. Boerkoel and K. Plunkett and S. Soukam and S.W. Cheung and A. Patel
DOI: 10.1002/ajmg.a.3139209 / 2006
PEDIATRICS
T. Lucke and D. Franke and J. M. Clewing and C. F. Boerkoel and J. H.H. Ehrich and A. M. Das and M. Zivicnjak
DOI: 10.1542/peds.2005-261406 / 2006
American Journal of Medical Genetics Part A
Leah I. Elizondo and Cheng Huang and Jennifer L. Northrop and Kimiko Deguchi and Johanna M. Clewing and Dawna L. Armstrong and Cornelius F. Boerkoel
DOI: 10.1002/ajmg.a.3108902 / 2006
Annals of the New York Academy of Sciences
C. F. BOERKOEL and K. INOUE and L. T. REITER and L. E. WARNER and J. R. LUPSKI
DOI: 10.1111/j.1749-6632.1999.tb08563.x02 / 2006
American Journal of Medical Genetics Part A
Thomas Lcke and Heiko Billing and Emily A. Sloan and Cornelius F. Boerkoel and Doris Franke and Miriam Zimmering and Jochen H.H. Ehrich and Anibh M. Das
DOI: 10.1002/ajmg.a.30691Neurology
R. Hirano and H. Takashima and F. Umehara and H. Arimura and K. Michizono and Y. Okamoto and M. Nakagawa and C. F. Boerkoel and J. R. Lupski and M. Osame and K. Arimura
DOI: 10.1212/01.wnl.0000133211.40288.9a08 / 2004
American Journal of Medical Genetics
Doris Taha and Cornelius F. Boerkoel and John Williamson Balfe and Mohammed Khalifah and Emily A. Sloan and Maha Barbar and Abdulrazzaq Haider and Hassan Kanaan
DOI: 10.1002/ajmg.a.30356Current Opinion in Genetics & Development
Cheng Huang and Emily A Sloan and Cornelius F Boerkoel
DOI: 10.1016/s0959-437x(03)00054-606 / 2003
Annals of Neurology
Cornelius F. Boerkoel and Hiroshi Takashima and Masanori Nakagawa and Shuji Izumo and Dawna Armstrong and Ian Butler and Pedro Mancias and Sozos C. H. Papasozomenos and Lawrence Z. Stern and James R. Lupski
DOI: 10.1002/ana.1050502 / 2003
Annals of Neurology
Ken Inoue and Konstantin Shilo and Cornelius F. Boerkoel and Carol Crowe and Joram Sawady and James R. Lupski and Dimitri P. Agamanolis
DOI: 10.1002/ana.1040411 / 2002
Annals of Neurology
Hiroshi Takashima and Cornelius F. Boerkoel and Peter De Jonghe and Chantal Ceuterick and Jean-Jacques Martin and Thomas Voit and J.-Michael Schrder and Anna Williams and Peter J. Brophy and Vincent Timmerman and James R. Lupski
DOI: 10.1002/ana.1021305 / 2002
Current Neurology and Neuroscience Reports
Cornelius F. Boerkoel and Hiroshi Takashima and James R. Lupski
DOI: 10.1007/s11910-002-0056-802 / 2002
Genetics in Medicine
Hiroshi Takashima and Cornelius F Boerkoel and James R Lupski
DOI: 10.1097/00125817-200109000-0000210 / 2001
Neurogenetics
Cornelius F. Boerkoel and Hiroshi Takashima and Carlos A. Bacino and Donna Daentl and James R. Lupski
DOI: 10.1007/s10048010010703 / 2001
The American Journal of Human Genetics
Cornelius F. Boerkoel and Hiroshi Takashima and Pawel Stankiewicz and Carlos A. Garcia and Steven M. Leber and Laila Rhee-Morris and James R. Lupski
DOI: 10.1086/31820802 / 2001
Neurogenetics
Alessandra Bolino and Lorne J. Lonie and Michael Zimmer and Cornelius F. Boerkoel and Hiroshi Takashima and Anthony P. Monaco and James R. Lupski
DOI: 10.1007/s10048000010102 / 2001
Human Genetics
G.B. Collin and J.D. Marshall and C.F. Boerkoel and A.V. Levin and R. Weksberg and J. Greenberg and J.L. Michaud and J.K. Naggert and P.M. Nishina
DOI: 10.1007/s00439005113311 / 1999
Leukemia
H Chang and D Bouman and CF Boerkoel and AK Stewart and JA Squire
DOI: 10.1038/sj.leu.240120801 / 1999
American Journal of Medical Genetics
Cornelius F. Boerkoel and Malgorzata J.M. Nowaczyk and Susan I. Blaser and Wendy S. Meschino and Rosanna Weksberg
DOI: 10.1002/(sici)1096-8628(19980630)78:2u003C118::aid-ajmg4u003E3.0.co;2-k06 / 1998
Gene
Ralph C. Nichols and Nina Raben and Cornelius F. Boerkoel and Paul H. Plotz
DOI: 10.1016/0378-1119(94)00634-504 / 1995
Muscle & Nerve
Nina Raben and Ralph C. Nichols and Cornelius Boerkoel and Paul Plotz
DOI: 10.1002/mus.880181415Virology
Cornelius F. Boerkoel and Mark J. Federspiel and Donald W. Salter and William Payne and Lyman B. Crittenden and Hsing-Jien Kung and Stephen H. Hughes
DOI: 10.1006/viro.1993.141808 / 1993
Journal of Virology
C F Boerkoel and H J Kung
DOI: 10.1128/jvi.66.8.4814-4823.1992Current Topics in Microbiology and Immunology
H. J. Kung and C. Boerkoel and T. H. Carter
DOI: 10.1007/978-3-642-76524-7_1Journal of Virology
R A Swift and C Boerkoel and A Ridgway and D J Fujita and J B Dodgson and H J Kung
DOI: 10.1128/jvi.61.7.2084-2090.198707 / 1987
Supipi Duffy and Hok Khim Fam and Yikan Wang and Erin B Styles and Jung-Huyn Kim and J. Sidney Ang and Tejomayee Singh and Vladimir Larionov and Sohrab Shah and Brenda Andrews and Cornelius Boerkoel and Phillip Hieter
DOI: 10.1101/038489Praveen F Cherukuri and Melissa M. Soe and David E. Condon and Shubhi Bartaria and Kaitlynn Meis and Shaopeng Gu and Frederick G. Frost and Lindsay M. Fricke and Krzysztof P. Lubieniecki and Joanna M. Lubieniecka and Robert E. Pyatt and Catherine Hajek and Cornelius F. Boerkoel and Lynn Carmichael
DOI: 10.21203/rs.3.rs-745072/v1Many families and patients presenting to the Psychiatric and Medical Genetics Clinics have strong family histories of cognition and behaviour. We have been using multiple tools to map the molecular bases of their disease. Through these studies of individuals and families, we are identifying novel pathways that not only regulate neural development and maintenance, but also regulate human behaviour. Currently we are studying inherited causes of aggressive behaviour, obsessive compulsive disorder and intellectual disability. We have identified a studied pathway of sterol metabolism as a regulator of neural development and aggressive behaviour. To define the function of this pathway and the molecular pathology underlying the disease, we are employing a combination of yeast and murine genetics, cell culture systems and biochemical analyses.
Tyrosyl-DNA phosphodiesterase 1 (Tdp1) repairs covalent topoisomerase IB-DNA complexes. In yeast, Tdp1 mutations cause double strand breaks through interference of the stalled topoisomerase IB complexes with DNA replication. This would suggest that mutations of Tdp1 predispose mammals to neoplasia or dysfunction of rapidly replicating tissues; however, we have found that deficiency of Tdp1 in humans causes spinocerebeller ataxia with axonal neuropathy (SCAN1), a disease of large terminally differentiated essentially non-dividing neuronal cells. We hypothesize that loss-of-function mutations in TDP1 cause SCAN1 either by interfering with DNA transcription or by inducing apoptosis in post-mitotic neurons rather than by interfering with DNA replication. To define the function of TDP1 and the molecular pathology underlying SCAN1, we are using a combination of Drosophila and murine genetics, and cell culture systems; these studies are being done in collaboration with Dr. Hiroshi Takashima. To date, our analyses suggest a novel biological process that is distinct from the previously described function of Tdp1. Our challenge is to use this process to gain insight into a new pathway for neural development and maintenance.
Presently the research in my laboratory focuses on defining the biologic and biochemical function of SMARCAL1 (swi/snf related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1), a protein homologous to helicases and the SNF2 family of chromatin remodeling proteins. Mutations in the SMARCAL1 gene cause Schimke immuno-osseous dysplasia (SIOD), an autosomal recessive fatal multisystem human disease. The SMARCAL1 protein has not been studied previously in any organism; therefore, its function and the underlying mechanism by which mutations cause SIOD are unknown. To define the function of SMARCAL1 and the molecular pathology underlying SIOD, we are employing a combination of Drosophila and murine genetics, cell culture systems and biochemical analyses to obtain insight into this novel pathway regulating tissue growth and maintenance.
SIOD is characterized by skeletal dysplasia, progressive renal failure and immunodeficiency. Additional but more variable disease features include atherosclerosis, hypothyroidism, and tooth and pigmentary abnormalities. SIOD is usually fatal within the first two decades of life because of renal failure, systemic infection, bone marrow failure, or cerebral ischemia. Our challenge is to explain molecularly how mutations of SMARCAL1 cause this severe pleiotropic disease, identify potential therapies to treat or ameliorate the disease, and derive insights into general principles of developmental biology and pathophysiology.
Chairman’s Prize, United Mitochondrial Disease Foundation - 2010
Clinical Investigator Award, Child & Family Research Institute - 2008
Michael Smith Foundation for Health Research Scholar Award in the Biomedical Sciences - 2008
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BC Children's Hospital Research Institute operates on the ancestral and unceded territory of the Coast Salish peoples — xʷməθkʷəy̓əm (Musqueam), Sḵwx̱wú7mesh (Squamish), and Səl̓ílwətaʔ/Selilwitulh (Tsleil-Waututh) Nations. Further, this acknowledgement, gratitude, and respect extends to all of the First Nations communities on whose territories the Research Institute builds relationships and operates in British Columbia.
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