Overview

I use detailed phenotypic characterization and a range of genome analysis tools to discover pathogenic variants that cause rare developmental and metabolic syndromes. I then carry out follow up experiments to support or rule out candidate genes. With my collaborators, we have discovered genes that cause Adams-Oliver syndrome, hereditary spastic paraplegia, ischiospinal dysostosis, Jeune syndrome, and more.

Publications

Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy
American Journal of Human Genetics
07/2017

Patient Recall, Interpretation, and Perspective of an Inconclusive Long QT Syndrome Genetic Test Result
Journal of Genetic Counseling
Predham, S. and Hathaway, J. and Hulait, G. and Arbour, L. and Lehman, A.
DOI: 10.1007/s10897-016-9991-4
2017

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies
American Journal of Human Genetics
Xu, M. and Xie, Y.A. and Abouzeid, H. and Gordon, C.T. and Fiorentino, A. and Sun, Z. and Lehman, A. and Osman, I.S. and Dharmat, R. and Riveiro-Alvarez, R. and Bapst-Wicht, L. and Babino, D. and Arno, G. and Busetto, V. and Zhao, L. and Li, H. and Lopez-Martinez, M.A. and Azevedo, L.F. and Hubert, L. and Pontikos, N. and Eblimit, A. and Lorda-Sanchez, I. and Kheir, V. and Plagnol, V. and Oufadem, M. and Soens, Z.T. and Yang, L. and Bole-Feysot, C. and Pfundt, R. and Allaman-Pillet, N. and Nitschk{\'e}, P. and Cheetham, M.E. and Lyonnet, S. and Agrawal, S.A. and Li, H. and Pinton, G. and Michaelides, M. and Besmond, C. and Li, Y. and Yuan, Z. and von Lintig, J. and Webster, A.R. and Le Hir, H. and Stoilov, P. and Black, G. and Hall, G. and Gillespie, R. and Ramsden, S. and Manson, F. and Sergouniotis, P. and Inglehearn, C. and Toomes, C. and Ali, M. and McKibbin, M. and Poulter, J. and Lord, E. and Nemeth, A. and Halford, S. and Downes, S. and Yu, J. and Amiel, J. and Hardcastle, A.J. and Ayuso, C. and Sui, R. and Chen, R. and Allikmets, R. and Schorderet, D.F.
DOI: 10.1016/j.ajhg.2017.02.008
2017

Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy
American Journal of Human Genetics
Lehman, Anna and Thouta, Samrat and Mancini, Grazia M. S. and Naidu, Sakkubai and van Slegtenhorst, Marjon and McWalter, Kirsty and Person, Richard and Mwenifumbo, Jill and Salvarinova, Ramona and Guella, Ilaria and McKenzie, Marna B. and Datta, Anita and Connolly, Mary B. and Kalkhoran, Somayeh Mojard and Poburko, Damon and Friedman, Jan M. and Farrer, Matthew J. and Demos, Michelle and Desai, Sonal and Claydon, Thomas and CAUSES Study and EPGEN Study
DOI: 10.1016/j.ajhg.2017.05.016
2017

Hypogonadotropic Hypogonadism in Males with Glycogen Storage Disease Type 1
JIMD Reports
Evelyn M. Wong and Anna Lehman and Philip Acott and Jane Gillis and Daniel L. Metzger and Sandra Sirrs
DOI: 10.1007/8904_2016_38
2017

Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation
American Journal of Human Genetics
Yan, K. and Rousseau, J. and Littlejohn, R.O. and Kiss, C. and Lehman, A. and Rosenfeld, J.A. and Stumpel, C.T.R. and Stegmann, A.P.A. and Robak, L. and Scaglia, F. and Nguyen, T.T.M. and Fu, H. and Ajeawung, N.F. and Camurri, M.V. and Li, L. and Gardham, A. and Panis, B. and Almannai, M. and Sacoto, M.J.G. and Baskin, B. and Ruivenkamp, C. and Xia, F. and Bi, W. and Cho, M.T. and Potjer, T.P. and Santen, G.W.E. and Parker, M.J. and Canham, N. and McKinnon, M. and Potocki, L. and MacKenzie, J.J. and Roeder, E.R. and Campeau, P.M. and Yang, X.-J.
DOI: 10.1016/j.ajhg.2016.11.011
2017

De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome
American Journal of Human Genetics
Sleven, H. and Welsh, S.J. and Yu, J. and Churchill, M.E.A. and Wright, C.F. and Henderson, A. and Horvath, R. and Rankin, J. and Vogt, J. and Magee, A. and McConnell, V. and Green, A. and King, M.D. and Cox, H. and Armstrong, L. and Lehman, A. and Nelson, T.N. and Williams, J. and Clouston, P. and Hagman, J. and N{\'e}meth, A.H.
DOI: 10.1016/j.ajhg.2016.11.020
2017

A novel RYR2 loss-of-function mutation (I4855M) is associated with left ventricular non-compaction and atypical catecholaminergic polymorphic ventricular tachycardia
Journal of Electrocardiology
Roston, T.M. and Guo, W. and Krahn, A.D. and Wang, R. and Van Petegem, F. and Sanatani, S. and Chen, S.R.W. and Lehman, A.
DOI: 10.1016/j.jelectrocard.2016.09.006
2017

Etiologies of uterine malformations
Am. J. Med. Genet.
Adeline Jacquinet and Debra Millar and Anna Lehman
DOI: 10.1002/ajmg.a.37775
06/2016

How do Physicians Decide to Refer Their Patients for Psychiatric Genetic Counseling? A Qualitative Study of Physicians’ Practice
J Genet Counsel
Emma Leach and Emily Morris and Hannah J. White and Angela Inglis and Anna Lehman and Jehannine Austin
DOI: 10.1007/s10897-016-9961-x
05/2016

Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability
Orphanet J Rare Dis
Valerie Maduro and Barbara N. Pusey and Praveen F. Cherukuri and Paul Atkins and Christèle du Souich and Rosemarie Rupps and Marjolaine Limbos and David R. Adams and Samarth S. Bhatt and Patrice Eydoux and Amanda E. Links and Anna Lehman and May C. Malicdan and Christopher E. Mason and Marie Morimoto and James C. Mullikin and Andrew Sear and Clara Van Karnebeek and Pawel Stankiewicz and William A. Gahl and Camilo Toro and Cornelius F. Boerkoel
DOI: 10.1186/s13023-016-0439-6
05/2016

Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis
JCI Insight
Hani Bagheri and Chansonette Badduke and Ying Qiao and Rita Colnaghi and Iga Abramowicz and Diana Alcantara and Christopher Dunham and Jiadi Wen and Robert S. Wildin and Malgorzata J.M. Nowaczyk and Jennifer Eichmeyer and Anna Lehman and Bruno Maranda and Sally Martell and Xianghong Shan and Suzanne M.E. Lewis and Mark O’Driscoll and Cheryl Y. Gregory-Evans and Evica Rajcan-Separovic
DOI: 10.1172/jci.insight.85461
03/2016

Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis
The American Journal of Human Genetics
James T. Bennett and Tiong Yang Tan and Diana Alcantara and Martine Tétrault and Andrew E. Timms and Dana Jensen and Sarah Collins and Malgorzata J.M. Nowaczyk and Marjorie J. Lindhurst and Katherine M. Christensen and Stephen R. Braddock and Heather Brandling-Bennett and Raoul C.M. Hennekam and Brian Chung and Anna Lehman and John Su and SuYuen Ng and David J. Amor and Jacek Majewski and Les G. Biesecker and Kym M. Boycott and William B. Dobyns and Mark O’Driscoll and Ute Moog and Laura M. McDonell
DOI: 10.1016/j.ajhg.2016.02.006
03/2016

Exome sequencing and the management of neurometabolic disorders
New England Journal of Medicine
Tarailo-Graovac, M. and Shyr, C. and Ross, C.J. and Horvath, G.A. and Salvarinova, R. and Ye, X.C. and Zhang, L.-H. and Bhavsar, A.P. and Lee, J.J.Y. and Dr{\"o}gem{\"o}ller, B.I. and Abdelsayed, M. and Alfadhel, M. and Armstrong, L. and Baumgartner, M.R. and Burda, P. and Connolly, M.B. and Cameron, J. and Demos, M. and Dewan, T. and Dionne, J. and Evans, A.M. and Friedman, J.M. and Garber, I. and Lewis, S. and Ling, J. and Mandal, R. and Mattman, A. and McKinnon, M. and Michoulas, A. and Metzger, D. and Ogunbayo, O.A. and Rakic, B. and Rozmus, J. and Ruben, P. and Sayson, B. and Santra, S. and Schultz, K.R. and Selby, K. and Shekel, P. and Sirrs, S. and Skrypnyk, C. and Superti-Furga, A. and Turvey, S.E. and Van Allen, M.I. and Wishart, D. and Wu, J. and Wu, J. and Zafeiriou, D. and Kluijtmans, L. and Wevers, R.A. and Eydoux, P. and Lehman, A.M. and Vallance, H. and Stockler-Ipsiroglu, S. and Sinclair, G. and Wasserman, W.W. and Van Karnebeek, C.D.
DOI: 10.1056/NEJMoa1515792
2016

Cost Analysis of Patients Referred for Inherited Heart Rhythm Disorder Evaluation
Canadian Journal of Cardiology
Janzen, M.L. and Cheung, C. and Sanatani, S. and Cunningham, T. and Kerr, C. and Steinberg, C. and Sherwin, E. and Arbour, L. and Deyell, M.W. and Andrade, J.G. and Lehman, A.M. and Gula, L.J. and Krahn, A.D.
DOI: 10.1016/j.cjca.2016.12.009
2016

DECIDE: a Decision Support Tool to Facilitate Parents’ Choices Regarding Genome-Wide Sequencing
Journal of Genetic Counseling
Birch, P. and Adam, S. and Bansback, N. and Coe, R.R. and Hicklin, J. and Lehman, A. and Li, K.C. and Friedman, J.M.
DOI: 10.1007/s10897-016-9971-8
2016

MG-141 A further report of paediatric cancer and cleidocranial dysplasia raises the possibility of a causative association of weak effect
J Med Genet
Anna Lehman and Edward Tseng and Michelle Ning and Zheyuan Zong and Seong-Hwan Jun
DOI: 10.1136/jmedgenet-2015-103577.30
11/2015

BMPER variants associated with a novel, attenuated subtype of diaphanospondylodysostosis
J Hum Genet
Zheyuan Zong and Susan Tees and Firoz Miyanji and Clarissa Fauth and Christopher Reilly and Elena Lopez and Stephen Tredwell and Yigal Paul Goldberg and Allen Delaney and Patrice Eydoux and Margot Van Allen and Anna Lehman
DOI: 10.1038/jhg.2015.116
10/2015

Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome
The American Journal of Human Genetics
Josephina A.N. Meester and Laura Southgate and Anna-Barbara Stittrich and Hanka Venselaar and Sander J.A. Beekmans and Nicolette den Hollander and Emilia K. Bijlsma and Appolonia Helderman-van den Enden and Joke B.G.M. Verheij and Gustavo Glusman and Jared C. Roach and Anna Lehman and Millan S. Patel and Bert B.A. de Vries and Claudia Ruivenkamp and Peter Itin and Katrina Prescott and Sheila Clarke and Richard Trembath and Martin Zenker and Maja Sukalo and Lut Van Laer and Bart Loeys and Wim Wuyts
DOI: 10.1016/j.ajhg.2015.07.015
09/2015

A Clinical Classification Scheme for Tracheobronchomegaly (Mounier-Kuhn Syndrome)
Lung
Jennifer Payandeh and Barbara McGillivray and Graeme McCauley and Pearce Wilcox and John R. Swiston and Anna Lehman
DOI: 10.1007/s00408-015-9757-z
07/2015

Mutations in NOTCH1 Cause Adams-Oliver Syndrome
The American Journal of Human Genetics
Anna-Barbara Stittrich and Anna Lehman and Dale L. Bodian and Justin Ashworth and Zheyuan Zong and Hong Li and Patricia Lam and Alina Khromykh and Ramaswamy K. Iyer and Joseph G. Vockley and Rajiv Baveja and Ermelinda Santos Silva and Joanne Dixon and Eyby L. Leon and Benjamin D. Solomon and Gustavo Glusman and John E. Niederhuber and Jared C. Roach and Millan S. Patel
DOI: 10.1016/j.ajhg.2014.07.011
09/2014

Diffuse angiopathy in Adams-Oliver syndrome associated with truncating DOCK6 mutations
Am. J. Med. Genet.
Anna Lehman and Anna-Barbara Stittrich and Gustavo Glusman and Zheyuan Zong and Hong Li and Patrice Eydoux and Christof Senger and Christopher Lyons and Jared C. Roach and Millan Patel
DOI: 10.1002/ajmg.a.36685
08/2014

Prenatal ultrasound and MRI findings of temporal and occipital lobe dysplasia in a twin with achondroplasia
Ultrasound Obstet Gynecol
D. Pugash and A. M. Lehman and S. Langlois
DOI: 10.1002/uog.13359
08/2014

Anterolateral diaphragmatic hernia with body wall defect understood in relation to the abaxial domain
Am. J. Med. Genet.
Anna M. Lehman and Jason R. Cowan and Deborah E. McFadden and Millan S. Patel
DOI: 10.1002/ajmg.a.36529
04/2014

Additional post-natal diagnoses following antenatal diagnosis of isolated cleft lip +/- palate
Archives of Disease in Childhood - Fetal and Neonatal Edition
L. Burnell and C. Verchere and D. Pugash and C. Loock and S. Robertson and A. Lehman
DOI: 10.1136/archdischild-2013-305390
03/2014

Mitochondrial Carbonic Anhydrase VA Deficiency Resulting from CA5A Alterations Presents with Hyperammonemia in Early Childhood
The American Journal of Human Genetics
Clara D. van Karnebeek and William S. Sly and Colin J. Ross and Ramona Salvarinova and Joy Yaplito-Lee and Saikat Santra and Casper Shyr and Gabriella A. Horvath and Patrice Eydoux and Anna M. Lehman and Virginie Bernard and Theresa Newlove and Henry Ukpeh and Anupam Chakrapani and Mary Anne Preece and Sarah Ball and James Pitt and Hilary D. Vallance and Marion Coulter-Mackie and Hien Nguyen and Lin-Hua Zhang and Amit P. Bhavsar and Graham Sinclair and Abdul Waheed and Wyeth W. Wasserman and Sylvia Stockler-Ipsiroglu
DOI: 10.1016/j.ajhg.2014.01.006
03/2014

Corneal findings in Parry–Romberg syndrome
Canadian Journal of Ophthalmology
Gregory Moloney and Anna Lehman and Kam Shojania and Michael Ross and Martin McCarthy
DOI: 10.1016/j.jcjo.2013.09.010
02/2014

Evidence of ancillary trigeminal innervation of levator palpebrae in the general population
Journal of Clinical Neuroscience
A.M. Lehman and C.C. Dong and A.M. Harries and A. Patel and C.R. Honey and M.S. Patel
DOI: 10.1016/j.jocn.2013.03.029
02/2014

Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans
The American Journal of Human Genetics
Jan Halbritter and Albane A. Bizet and Miriam Schmidts and Jonathan D. Porath and Daniela A. Braun and Heon Yung Gee and Aideen M. McInerney-Leo and Pauline Krug and Emilie Filhol and Erica E. Davis and Rannar Airik and Peter G. Czarnecki and Anna M. Lehman and Peter Trnka and Patrick Nitschké and Christine Bole-Feysot and Markus Schueler and Bertrand Knebelmann and Stéphane Burtey and Attila J. Szabó and Kálmán Tory and Paul J. Leo and Brooke Gardiner and Fiona A. McKenzie and Andreas Zankl and Matthew A. Brown and Jane L. Hartley and Eamonn R. Maher and Chunmei Li and Michel R. Leroux and Peter J. Scambler and Shing H. Zhan and Steven J. Jones and Hülya Kayserili and Beyhan Tuysuz and Khemchand N. Moorani and Alexandru Constantinescu and Ian D. Krantz and Bernard S. Kaplan and Jagesh V. Shah and Toby W. Hurd and Dan Doherty and Nicholas Katsanis and Emma L. Duncan and Edgar A. Otto and Philip L. Beales and Hannah M. Mitchison and Sophie Saunier and Friedhelm Hildebrandt
DOI: 10.1016/j.ajhg.2013.09.012
11/2013

Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis
Brain
G. V. Harlalka and A. Lehman and B. Chioza and E. L. Baple and R. Maroofian and H. Cross and A. Sreekantan-Nair and D. A. Priestman and S. Al-Turki and M. E. McEntagart and C. Proukakis and L. Royle and R. P. Kozak and L. Bastaki and M. Patton and K. Wagner and R. Coblentz and J. Price and M. Mezei and K. Schlade-Bartusiak and F. M. Platt and M. E. Hurles and A. H. Crosby
DOI: 10.1093/brain/awt270
10/2013

Fetal Progeria: Prenatal Sonographic Findings in Petty Syndrome
Journal of Ultrasound in Medicine
D. Pugash and K. A. Schrader and C. P. Dunham and O.-E. Popescu and M. A. Sargent and A. M. Lehman and S. L. Yong and L. A. Clarke
DOI: 10.7863/ultra.32.5.881
04/2013

Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis.
Brain : a journal of neurology
Harlalka, G.V. and Lehman, A. and Chioza, B. and Baple, E.L. and Maroofian, R. and Cross, H. and Sreekantan-Nair, A. and Priestman, D.A. and Al-Turki, S. and McEntagart, M.E. and Proukakis, C. and Royle, L. and Kozak, R.P. and Bastaki, L. and Patton, M. and Wagner, K. and Coblentz, R. and Price, J. and Mezei, M. and Schlade-Bartusiak, K. and Platt, F.M. and Hurles, M.E. and Crosby, A.H.
2013

Treatable inborn errors of metabolism causing neurological symptoms in adults
Molecular Genetics and Metabolism
Sirrs, S.M. and Lehman, A. and Stockler, S. and van Karnebeek, C.D.M.
DOI: 10.1016/j.ymgme.2013.10.002
2013

Child Neurology: Krabbe disease: A potentially treatable white matter disorder
Neurology
J. Gelinas and P. Liao and A. Lehman and S. Stockler and S. Sirrs
DOI: 10.1212/wnl.0b013e3182735c8b
11/2012

Emphysema in an adult with galactosialidosis linked to a defect in primary elastic fiber assembly
Molecular Genetics and Metabolism
Anna Lehman and Andre Mattman and Don Sin and Peter Pare and Zheyuan Zong and Alessandra d'Azzo and Yvan Campos and Sandra Sirrs and Aleksander Hinek
DOI: 10.1016/j.ymgme.2012.02.004
05/2012

Child neurology: Krabbe disease : A potentially treatable white matter disorder
Neurology
Gelinas, J. and Liao, P. and Lehman, A. and Stockler, S. and Sirrs, S.
DOI: 10.1212/WNL.0b013e3182735c8b
2012

19p13.2 microduplication causes a Sotos syndrome-like phenotype and alters gene expression
Clinical Genetics
Lehman, A.M. and Du Souich, C. and Chai, D. and Eydoux, P. and Huang, J.L. and Fok, A.K. and Avila, L. and Swingland, J. and Delaney, A.D. and McGillivray, B. and Goldowitz, D. and Argiropoulos, B. and Kobor, M.S. and Boerkoel, C.F.
DOI: 10.1111/j.1399-0004.2010.01615.x
2012

Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy
Am. J. Med. Genet.
A.M. Lehman and P. Eydoux and D. Doherty and I.A. Glass and D. Chitayat and B.Y.H. Chung and S. Langlois and S.L. Yong and R.B. Lowry and F. Hildebrandt and P. Trnka
DOI: 10.1002/ajmg.a.33416
2010

Intracranial Calcification after Cord Blood Neonatal Transplantation for Krabbe Disease
Neuropediatrics
A. Lehman and K. Schultz and K. Poskitt and B. Bjornson and R. Keyes and P. Waters and L. Clarke and R. Everett and D. McConnell and S. Stockler
DOI: 10.1055/s-0029-1243189
08/2009

Childhood-onset hemiatrophy caused by unilateral morphea
Clinical Dysmorphology
Anna M. Lehman and Millan S. Patel
DOI: 10.1097/mcd.0b013e32832a9e0c
2009

Childhood-onset hemiatrophy caused by unilateral morphea
Clinical Dysmorphology
Lehman, A.M. and Patel, M.S.
DOI: 10.1097/MCD.0b013e32832a9e0c
2009

OCRL1 mutations in dent 2 patients suggest a mechanism for phenotypic variability
Nephron - Physiology
Shrimpton, A.E. and Hoopes Jr., R.R. and Knohl, S.J. and Hueber, P. and Reed, A.A.C. and Christie, P.T. and Igarashi, T. and Lee, P. and Lehman, A. and White, C. and Milford, D.V. and Sanchez, M.R. and Unwin, R. and Wrong, O.M. and Thakker, R.V. and Scheinman, S.J.
DOI: 10.1159/000213506
2009

A characteristic syndrome associated with microduplication of 8q12, inclusive of CHD7
Lehman, Anna M. and Friedman, Jan M. and Chai, David and Zahir, Farah R. and Marra, Marco A. and Prisman, Larraine and Tsang, Erica and Eydoux, Patrice and Armstrong, Linlea
DOI: 10.1016/j.ejmg.2009.09.006
2009

Schinzel–Giedion syndrome: Report of splenopancreatic fusion and proposed diagnostic criteria
Lehman, Anna M. and McFadden, Deborah and Pugash, Denise and Sangha, Karan and Gibson, William T. and Patel, Millan S.
DOI: 10.1002/ajmg.a.32277
2008

ATTRIBUTIONS, CONTROL, AND PSYCHOLOGICAL ADJUSTMENT
White, Katherine and Lehman, Darrin R. and Hemphill, Kenneth J. and Mandel, David R. and Lehman, Anna M.
DOI: 10.1111/j.0021-9029.2006.00004.x
2006

Transcriptional Regulation of BACE1, the ß-Amyloid Precursor Protein ß-Secretase, by Sp1
Molecular and Cellular Biology
Christensen, M.A. and Zhou, W. and Qing, H. and Lehman, A. and Philipsen, S. and Song, W.
DOI: 10.1128/MCB.24.2.865-874.2004
2004

Transcriptional Regulation of BACE1, the  -Amyloid Precursor Protein  -Secretase, by Sp1
Molecular and Cellular Biology
M. A. Christensen and W. Zhou and H. Qing and A. Lehman and S. Philipsen and W. Song
DOI: 10.1128/mcb.24.2.865-874.2004
2003

Illness experience, depression, and anxiety in chronic fatigue syndrome
Lehman, Anna M and Lehman, Darrin R and Hemphill, Kenneth J and Mandel, David R and Cooper, Lynne M
DOI: 10.1016/s0022-3999(02)00318-5
2002

Illness experience, depression, and anxiety in chronic fatigue syndrome
Journal of Psychosomatic Research
Lehman, A.M. and Lehman, D.R. and Hemphill, K.J. and Mandel, D.R. and Cooper, L.M.
DOI: 10.1016/S0022-3999(02)00318-5
2002

Research

Current projects
We are currently searching for the genetic causes of nonsyndromic intellectual disability, novel multiple congenital anomaly syndromes, Adams Oliver syndrome (with my BC Children's Hospital co-investigator Dr. Patel), and neurodegenerative disorders. I study both individual families and cohorts of probands, and I frequently collaborate with larger initiatives (eg., FORGE Canada, Care4Rare, DECIPHER, UK 100,000 Genomes). I also work to identify disease genes in individuals with chromosomal imbalances or structural alterations that are associated with unusual developmental or medical disorders. I see this work as the second part of the Human Genome Project: determination of those genetic variants responsible for human diseases.

Honours & Awards

2009 - Rising Researcher Support Award, Canadian Child Health Clinician Scientist Program

2009 - David W. Smith Award for Outstanding Presentation by a Resident or Fellow

Research Group Members

Karen Jacob, Genetic Counsellor
Jill Mwenifumbo, Genomicist
Meriam Waqas, Study Coordinator
Grace Yang, Technician