One in thirty-three children is born with a major birth defect. The causes are mostly unknown, but in rare cases may be due to a viral infection during pregnancy. We plan to use a new technology to check for all known viruses at once, using amniotic fluid from affected pregnancies. Preterm birth is the largest cause of infant mortality in Canada. We plan to use the same technology to look for viruses as triggers of preterm birth.

Adams Oliver syndrome features scalp defects and amputation-like defects of the limbs, in addition to a host of blood vessel-related problems. We have found new changes in 2 genes that cause this condition and are searching for more as a genetic cause is found in less than 20% of patients. We are also pursuing mechanistic studies to better understand how to improve the blood vessel problems, some of which can be fatal.


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Ophthalmic Genetics
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Linkage analysis identifies an isolated strabismus locus at 14q12 overlapping with FOXG1 syndrome region
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Expanding the FANCO/RAD51C associated phenotype: Cleft lip and palate and lobar holoprosencephaly, two rare findings in Fanconi anemia
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Competing Factors Link to Bone Health in Polycystic Ovary Syndrome: Chronic Low-Grade Inflammation Takes a Toll
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Fatal congenital hypertrophic cardiomyopathy and a pancreatic nodule morphologically identical to focal lesion of congenital hyperinsulinism in an infant with costello syndrome: case report and review of the literature.
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New genetic loci link adipose and insulin biology to body fat distribution
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Peltonen, L. and Vartiainen, E. and Brand, S.M. and Wang, T.J. and Burton, P.R. and Artigas, M.S. and Dong, Y. and Wang, X. and Zhu, H. and Rudock, M.E. and Heckbert, S.R. and Smith, N.L. and Wiggins, K.L. and Doumatey, A. and Shriner, D. and Veldre, G. and Viigimaa, M. and Kinra, S. and Prabhakaran, D. and Tripathy, V. and Langefeld, C.D. and Rosengren, A. and Thelle, D.S. and Corsi, A.M. and Singleton, A. and Hilton, G. and Salako, T. and Iwai, N. and Kita, Y. and Ogihara, T. and Ohkubo, T. and Okamura, T. and Ueshima, H. and Umemura, S. and Eyheramendy, S. and Meitinger, T. and Cho, Y.S. and Kim, H.L. and Scott, J. and Sehmi, J.S. and Hedblad, B. and Nilsson, P. and Stanèáková, A. and Raffel, L.J. and Yao, J. and Schwartz, S.M. and Ikram, M. and Longstreth, W. and Mosley, T.H. and Seshadri, S. and Shrine, N.R. and Wain, L.V. and Morken, M.A. and Laitinen, J. and Zitting, P. and Cooper, J.A. and van Gilst, W.H. and Janipalli, C.S. and Mani, K. and Yajnik, C.S. and Mattace-Raso, F.U. and Lakatta, E.G. and Orru, M. and Scuteri, A. and Ala-Korpela, M. and Kangas, A.J. and Soininen, P. and Tukiainen, T. and Würtz, P. and Ong, R.T. and Galan, P. and Hercberg, S. and Lathrop, M. and Zelenika, D. and Zhai, G. and Meschia, J.F. and Sharma, P. and Terzic, J. and Kumar, M. and Denniff, M. and Zukowska-Szczechowska, E. and Wagenknecht, L.E. and Fowkes, F. and Charchar, F.J. and Rotimi, C. and Bots, M.L. and Brand, E. and Talmud, P.J. and Nyberg, F. and Laan, M. and van der Schouw, Y.T. and Casas, J.P. and Vineis, P. and Ganesh, S.K. and Wong, T.Y. and Tai, E.S. and Morris, R.W. and Dominiczak, A.F. and Marmot, M.G. and Miki, T. and Chandak, G.R. and Zhu, X. and Elosua, R. and Soranzo, N. and Sijbrands, E.J. and Uda, M. and Vasan, R.S. and Anderson, C.A. and Gordon, S. and Guo, Q. and Henders, A. and Lambert, A. and Kraft, P. and Kennedy, S.H. and Macgregor, S. and Missmer, S.A. and Painter, J.N. and Roseman, F. and Treloar, S.A. and Wallace, L. and Alizadeh, B.Z. and de Boer, R.A. and Boezen, H.M. and van der Klauw, M.M. and Ormel, J. and Postma, D.S. and Rosmalen, J.G. and Slaets, J.P. and Lagou, V. and Welch, R.P. and Wheeler, E. and Rehnberg, E. and Lecoeur, C. and Johnson, P.C. and Hottenga, J.J. and Salo, P. and Bielak, L.F. and Zhao, W. and Horikoshi, M. and Navarro, P. and Chen, H. and Rybin, D. and Song, K. and An, P. and Marullo, L. and Jansen, H. and Edkins, S. and Varga, T.V. and Oksa, H. and Antonella, M. and Kong, A. and Herder, C. and Antti, J. and Miljkovic, I. and Atalay, M. and Kiess, W. and Smit, J.H. and Campbell, S. and Fowkes, G.R. and Rathmann, W. and Maerz, W. and Watanabe, R.M. and Toenjes, A. and Peyser, P.A. and Körner, A. and Boomsma, D. and Cucca, F. and Balkau, B. and Bouatia-Naji, N. and Ahmadi, K.R. and Ainali, C. and Bataille, V. and Bell, J.T. and Buil, A. and Dermitzakis, E.T. and Dimas, A.S. and Durbin, R. and Glass, D. and Hassanali, N. and Ingle, C. and Knowles, D. and Krestyaninova, M. and Lowe, C.E. and Meduri, E. and Di Meglio, P. and Montgomery, S.B. and Nestle, F.O. and Nica, A.C. and Nisbet, J. and O'rahilly, S. and Parts, L. and Potter, S. and Sekowska, M. and Shin, S.Y. and Surdulescu, G. and Travers, M.E. and Tsaprouni, L. and Tsoka, S. and Wilk, A. and Higashio, J. and Williams, R. and Nato, A. and Ambite, J.L. and Manolio, T. and Hindorff, L. and Heiss, G. and Taylor, K. and Avery, C. and Graff, M. and Lin, D. and Quibrera, M. and Cochran, B. and Kao, L. and Umans, J. and Cole, S. and Maccluer, J. and Person, S. and Gross, M. and Fornage, M. and Durda, P. and Jenny, N. and Patsy, B. and Arnold, A. and Buzkova, P. and Haines, J. and Murdock, D. and Glenn, K. and Brown-Gentry, K. and Thornton-Wells, T. and Dumitrescu, L. and Jeff, J. and Bush, W.S. and Mitchell, S.L. and Goodloe, R. and Boston, J. and Malinowski, J. and Restrepo, N. and Oetjens, M. and Fowke, J. and Zheng, W. and Spencer, K. and Pendergrass, S. and Wilkens, L. and Park, L. and Tiirikainen, M. and Kolonel, L. and Lim, U. and Cheng, I. and Wang, H. and Shohet, R. and Stram, D. and Henderson, B. and Monroe, K. and Schumacher, F. and Anderson, G. and Carlson, C. and Prentice, R. and Wu, C. and Carty, C. and Gong, J. and Rosse, S. and Young, A. and Haessler, J. and Kocarnik, J. and Lin, Y. and Duggan, D. and Kuller, L. and He, C. and Sulem, P. and Barbalic, M. and Broer, L. and Byrne, E.M. and Gudbjartsson, D.F. and McArdle, P.F. and Porcu, E. and van Wingerden, S. and Zhuang, W. and Lauc, L.B. and Broekmans, F.J. and Burri, A. and Chanock, S.J. and Chen, C. and Corre, T. and Coviello, A.D. and D'adamo, P. and Davies, G. and Deary, I.J. and Ebrahim, S. and Fauser, B.C. and Ferreli, L. and Folsom, A.R. and Hall, P. and Hankinson, S.E. and Hass, M. and Heath, A.C. and Janssens, A.C. and Keyzer, J. and Lahti, J. and Lai, S. and Laisk, T. and Laven, J.S. and Liu, J. and Lopez, L.M. and Louwers, Y.V. and Marongiu, M. and Klaric, I.M. and Masciullo, C. and Medland, S.E. and Melzer, D. and Newman, A.B. and Paré, G. and Peeters, P.H. and Pop, V.J. and Räikkönen, K. and Salumets, A. and Smith, J.A. and Stacey, S.N. and Starr, J.M. and Stathopoulou, M.G. and Tenesa, A. and Tryggvadottir, L. and Tsui, K. and van Dam, R.M. and van Gils, C.H. and van Nierop, P. and Vink, J.M. and Voorhuis, M. and Wallaschofski, H. and Widen, E. and Wijnands-Van Gent, C.J. and Zgaga, L. and Zygmunt, M. and Buring, J.E. and Crisponi, L. and Demerath, E.W. and Murray, A. and Visser, J.A. and Lunetta, K.L. and Elks, C.E. and Cousminer, D.L. and Feenstra, B. and Lin, P. and Smith, E.N. and Warrington, N.M. and Alavere, H. and Berenson, G.S. and Blackburn, H. and Busonero, F. and Chen, W. and Easton, D.F. and Foroud, T. and Geller, F. and Kilpeläinen, T.O. and Li, S. and Melbye, M. and Murray, J.C. and Murray, S.S. and Ness, A.R. and Northstone, K. and Pennell, C.E. and Pharoah, P. and Rafnar, T. and Rice, J.P. and Ring, S.M. and Schork, N.J. and Segrè, A.V. and Sovio, U. and Srinivasan, S.R. and Tammesoo, M.L. and Tyrer, J. and Weedon, M.N. and Young, L. and Bierut, L.J. and Boyd, H.A.
DOI: 10.1038/nature14132

Prenatal and postnatal findings in serpentine fibula polycystic kidney syndrome and a review of the NOTCH2 spectrum disorders.
American journal of medical genetics. Part A
DOI: 10.1002/ajmg.a.36656
PubMed: 24995648

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

Diffuse angiopathy in Adams-Oliver syndrome associated with truncatingDOCK6mutations
American Journal of Medical Genetics Part A
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

Strabismus genetics across a spectrum of eye misalignment disorders.
Clinical genetics
DOI: 10.1111/cge.12367
PubMed: 24579652

Combined immunodeficiency associated with homozygous MALT1 mutations.
The Journal of allergy and clinical immunology
DOI: 10.1016/j.jaci.2013.10.045
PubMed: 24332264

Anterolateral diaphragmatic hernia with body wall defect understood in relation to the abaxial domain
American Journal of Medical Genetics Part A
Anna M. Lehman and Jason R. Cowan and Deborah E. McFadden and Millan S. Patel
DOI: 10.1002/ajmg.a.36529

A cryptic familial rearrangement of 11p15.5, involving both imprinting centers, in a family with a history of short stature
American Journal of Medical Genetics Part A
Lindsay A. Brown and Rosemarie Rupps and Maria S. Peñaherrera and Wendy P. Robinson and Millan S. Patel and Patrice Eydoux and Cornelius F. Boerkoel
DOI: 10.1002/ajmg.a.36490

A genome-wide copy number association study of osteoporotic fractures points to the 6p25.1 locus.
Journal of medical genetics
DOI: 10.1136/jmedgenet-2013-102064
PubMed: 24343915

Evidence of ancillary trigeminal innervation of levator palpebrae in the general population.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia
DOI: 10.1016/j.jocn.2013.03.029
PubMed: 24120706

Calcium and vitamin D intake and mortality: results from the Canadian Multicentre Osteoporosis Study (CaMos).
The Journal of Clinical Endocrinology and Metabolism
DOI: 10.1210/jc.2013-1516
PubMed: 23703722

Assessment of gene-by-sex interaction effect on bone mineral density.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
DOI: 10.1002/jbmr.1679
PubMed: 22692763

A variant of unknown significance in the GLA gene causing diagnostic uncertainty in a young female with isolated hypertrophic cardiomyopathy
Khalid Al-Thihli and Hatim Ebrahim and Derralynn A. Hughes and Millan Patel and Marion Tipple and Ramona Salvarinova and Jane Gardiner and Hilary Vallance and Paula J. Waters
DOI: 10.1016/j.gene.2012.01.056

Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
Nature genetics
DOI: 10.1038/ng.2249
PubMed: 22504420

Pontocerebellar Hypoplasia: Review of Classification and Genetics, and Exclusion of Several Genes Known to Be Important for Cerebellar Development
Journal of Child Neurology
Stephen M. Maricich and Kaashif A. Aqeeb and Yalda Moayedi and Erin L. Mathes and Millan S. Patel and David Chitayat and Gilles Lyon and Jules G. Leroy and Huda Y. Zoghbi
DOI: 10.1177/0883073810380047

Independent external validation of nomograms for predicting risk of low-trauma fracture and hip fracture
Langsetmo, L. and Nguyen, T.V. and Nguyen, N.D. and Kovacs, C.S. and Prior, J.C. and Center, J.R. and Morin, S. and Josse, R.G. and Adachi, J.D. and Hanley, D.A. and Eisman, J.A. and Goltzman, D. and Kreiger, N. and Tenenhouse, A. and Poliquin, S. and Godmaire, S. and Berger, C. and Joyce, C. and Sheppard, E. and Kirkland, S. and Kaiser, S. and Stanfield, B. and Brown, J.P. and Bessette, L. and Gendreau, M. and Anastassiades, T. and Towheed, T. and Matthews, B. and Josse, B. and Jamal, S.A. and Murray, T. and Gardner-Bray, B. and Papaioannou, A. and Pickard, L. and Olszynski, W.P. and Davison, K.S. and Thingvold, J. and Allan, J. and Patel, M. and Vigna, Y. and Lentle, B.C.
DOI: 10.1503/cmaj.100458

The burden of osteoporotic fractures beyond acute care: The Canadian Multicentre Osteoporosis Study (CaMos)
Age and Ageing
Kaffashian, S. and Raina, P. and Oremus, M. and Pickard, L. and Adachi, J. and Papadimitropoulos, E. and Papaioannou, A. and Goltzman, D. and Kreiger, N. and Tenenhouse, A. and Poliquin, S. and Godmaire, S. and Berger, C. and Joyce, C. and Kovacs, C. and Sheppard, E. and Kirkland, S. and Kaiser, S. and Stanfield, B. and Brown, J.P. and Bessette, L. and Gendreau, M. and Anastassiades, T. and Towheed, T. and Matthews, B. and Josse, B. and Jamal, S.A. and Murray, T. and Gardner-Bray, B. and Adachi, J.D. and Papaioannou, A. and Pickard, L. and Olszynski, W.P. and Davison, K.S. and Thingvold, J. and Hanley, D.A. and Allan, J. and Prior, J.C. and Patel, M. and Vigna, Y. and Lentle, B.C.
DOI: 10.1093/ageing/afr085

Outcome of prenatally diagnosed isolated clubfoot
Ultrasound in Obstetrics & Gynecology
DOI: 10.1002/uog.7558

Peak bone mass from longitudinal data: Implications for the prevalence, pathophysiology, and diagnosis of osteoporosis
Journal of Bone and Mineral Research
Berger, C. and Goltzman, D. and Langsetmo, L. and Joseph, L. and Jackson, S. and Kreiger, N. and Tenenhouse, A. and Davison, K.S. and Josse, R.G. and Prior, J.C. and Hanley, D.A. and Poliquin, S. and Godmaire, S. and Joyce, C. and Kovacs, C. and Sheppard, E. and Kirkland, S. and Kaiser, S. and Stanfield, B. and Brown, J.P. and Bessette, L. and Gendreau, M. and Anastassiades, T. and Towheed, T. and Matthews, B. and Josse, B. and Jamal, S. and Murray, T. and Gardner-Bray, B. and Adachi, J.D. and Papaioannou, A. and Pickard, L. and Olszynski, W.P. and Thingvold, J. and Allan, J. and Patel, M. and Lentle, B. and Vigna, Y.
DOI: 10.1002/jbmr.95

Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization
BMC Genomics
JM Friedman and Shelin Adam and Laura Arbour and Linlea Armstrong and Agnes Baross and Patricia Birch and Cornelius Boerkoel and Susanna Chan and David Chai and Allen D Delaney and Stephane Flibotte and William T Gibson and Sylvie Langlois and Emmanuelle Lemyre and H Irene Li and Patrick MacLeod and Joan Mathers and Jacques L Michaud and Barbara C McGillivray and Millan S Patel and Hong Qian and Guy A Rouleau and Margot I Van Allen and Siu-Li Yong and Farah R Zahir and Patrice Eydoux and Marco A Marra
DOI: 10.1186/1471-2164-10-526

Sudden death in spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type
Clinical Dysmorphology
Dias, C. and Cairns, R. and Patel, M.S.
DOI: 10.1097/MCD.0b013e3283186907

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

22q11.2 Distal Deletion: A Recurrent Genomic Disorder Distinct from DiGeorge Syndrome and Velocardiofacial Syndrome
The American Journal of Human Genetics
Shay Ben-Shachar and Zhishuo Ou and Chad A. Shaw and John W. Belmont and Millan S. Patel and Marybeth Hummel and Stephen Amato and Nicole Tartaglia and Jonathan Berg and V. Reid Sutton and Seema R. Lalani and A. Craig Chinault and Sau W. Cheung and James R. Lupski and Ankita Patel
DOI: 10.1016/j.ajhg.2007.09.014

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

Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH
Molecular Cytogenetics
Christine Tyson and Ying Qiao and Chansonette Harvard and Xudong Liu and Francois P Bernier and Barbara McGillivray and Sandra A Farrell and Laura Arbour and Albert E Chudley and Lorne Clarke and William Gibson and Sarah Dyack and Ross McLeod and Teresa Costa and Margot I VanAllen and Siu-li Yong and Gail E Graham and Patrick MacLeod and Millan S Patel and Jane Hurlburt and Jeanette JA Holden and Suzanne ME Lewis and Evica Rajcan-Separovic
DOI: 10.1186/1755-8166-1-23

The new field of neuroskeletal biology
Calcified Tissue International
DOI: 10.1007/s00223-007-9015-3

Preaxial polydactyly in neurofibromatosis 1
Clinical Dysmorphology
Shinawi, M. and Patel, M.S.
DOI: 10.1097/MCD.0b013e3280e1cc54

Erratum: The new field of neuroskeletal biology (Calcified Tissue International (2007) 80, 5, (337-347) DOI: 10.1007/s00223-007-9015-3)
Calcified Tissue International
Patel, M.S. and Elefteriou, F.
DOI: 10.1007/s00223-007-9068-3

Susceptibility to Infectious Diseases: the Importance of Host Genetics
American Journal of Medical Genetics

The circadian modulation of leptin-controlled bone formation
Hypothalamic Integration of Energy Metabolism, Proceedings of the 24th International Summer School of Brain Research, held at the Royal Netherlands Academy of Arts and Sciences
Loning Fu and Millan S. Patel and Gerard Karsenty
DOI: 10.1016/s0079-6123(06)53010-9

Severe, fetal-onset form of olivopontocerebellar hypoplasia in three sibs: PCH type 5?
American Journal of Medical Genetics
Patel, M.S. and Becker, L.E. and Toi, A. and Armstrong, D.L. and Chitayat, D.
DOI: 10.1002/ajmg.a.31095

Chapter 10: The circadian modulation of leptin-controlled bone formation
Progress in Brain Research
Fu, L. and Patel, M.S. and Karsenty, G.
DOI: 10.1016/S0079-6123(06)53010-9

Neural control of hematopoietic stem cell mobilization via osteoblasts
DOI: 10.1138/20060213

WNT7b mediates macrophage-induced programmed cell death in patterning of the vasculature
Ivan B. Lobov and Sujata Rao and Thomas J. Carroll and Jefferson E. Vallance and Masataka Ito and Jennifer K. Ondr and Savita Kurup and Donald A. Glass and Millan S. Patel and Weiguo Shu and Edward E. Morrisey and Andrew P. McMahon and Gerard Karsenty and Richard A. Lang
DOI: 10.1038/nature03928

Canonical Wnt Signaling in Differentiated Osteoblasts Controls Osteoclast Differentiation
Developmental Cell
Donald A. Glass and Peter Bialek and Jong Deok Ahn and Michael Starbuck and Millan S. Patel and Hans Clevers and Mark M. Taketo and Fanxin Long and Andrew P. McMahon and Richard A. Lang and Gerard Karsenty
DOI: 10.1016/j.devcel.2005.02.017

The Molecular Clock Mediates Leptin-Regulated Bone Formation
DOI: 10.1016/j.cell.2005.06.028

Abnormal pericyte recruitment as a cause for pulmonary hypertension in Adams-Oliver syndrome
American Journal of Medical Genetics
Millan S. Patel and Glenn P. Taylor and Simi Bharya and Nouriya Al-Sanna'a and Ian Adatia and David Chitayat and M.E. Suzanne Lewis and Derek G. Human
DOI: 10.1002/ajmg.a.30221

LRP5, Wnt and Bone Formation
Molecular Medicine

A New Insight into the Formation of Osteolytic Lesions in Multiple Myeloma
New England Journal of Medicine
Glass II, D.A. and Patel, M.S. and Karsenty, G.
DOI: 10.1056/NEJMp038176

The imprinted region on human chromosome 7q32 extends to the carboxypeptidase A gene cluster: An imprinted candidate for Silver-Russell syndrome
Journal of Medical Genetics
Bentley, L. and Stanier, P. and Scherer, S.W. and Moore, G.E. and Nakabayashi, K. and Monk, D. and Beechey, C. and Peters, J. and Birjandi, Z. and Khayat, F.E. and Patel, M. and Preece, M.A.
DOI: 10.1136/jmg.40.4.249

Regulation of bone formation by Wnt signaling
American Journal of Human Genetics

Cbfa1-independent decrease in osteoblast proliferation, osteopenia, and persistent embryonic eye vascularization in mice deficient in Lrp5, a Wnt coreceptor
The Journal of Cell Biology
Masaki Kato and Millan S. Patel and Regis Levasseur and Ivan Lobov and Benny H.-J. Chang and Donald A. Glass and Christine Hartmann and Lan Li and Tae-Ho Hwang and Cory F. Brayton and Richard A. Lang and Gerard Karsenty and Lawrence Chan
DOI: 10.1083/jcb.200201089

Regulation of Bone Formation and Vision by LRP5
New England Journal of Medicine
DOI: 10.1056/NEJM200205163462011

Low bone mass, low body weight and abnormal eye vascularization in mice deficient in Lrp5, the gene mutated in human osteoporosis pseudoglioma syndrome (OPS)
Journal of Bone and Mineral Research

Mouse genetics as a tool to study bone development and physiology
Osteoporosis, 2nd edition

Alleles of the Estrogen Receptor a-Gene and an Estrogen Receptor Cotranscriptional Activator Gene, Amplified in Breast Cancer-1 (AIB1), Are Associated with Quantitative Calcaneal Ultrasound
Journal of Bone and Mineral Research
Millan S. Patel and David E. C. Cole and Janice D. Smith and Gillian A. Hawker and Betty Wong and Hoang Trang and Reinhold Vieth and Paul Meltzer and Laurence A. Rubin
DOI: 10.1359/jbmr.2000.15.11.2231

Associations of the Collagen Type Ia1 Sp1 Polymorphism with Five-Year Rates of Bone Loss in Older Adults
Calcified Tissue International
S. S. Harris and M. S. Patel and D. E. C. Cole and B. Dawson-Hughes
DOI: 10.1007/pl00005842

Three novel SALL1 mutations extend the mutational spectrum in Townes-Brocks syndrome
Journal of Medical Genetics
DOI: 10.1136/jmg.37.4.303

Genetic determinants of bone mass acquisition and risk for osteoporosis
Drug Development Research
DOI: 10.1002/(SICI)1098-2299(200003)49:33.0.CO;2-A

Associations of the collagen type Ia1 Sp1 polymorphism with five-year rates of bone loss in older adults
Calcified Tissue International
Harris, S.S. and Patel, M.S. and Cole, D.E.C. and Dawson-Hughes, B.
DOI: 10.1007/PL00005842

Early-infantile galactosialidosis: Prenatal presentation and postnatal follow-up
American Journal of Medical Genetics
Millan S. Patel and John W. Callahan and Sunqu Zhang and Alicia K.J. Chan and Sheila Unger and Alex V. Levin and Marie-Anne Skomorowski and Annette S. Feigenbaum and Karel O'Brien and Jonathan Hellmann and Greg Ryan and Lea Velsher and David Chitayat
DOI: 10.1002/(sici)1096-8628(19990702)85:13.3.co;2-v

Genetic determinants of quantitative heel ultrasound status in young women: Evidence for a role of the estrogen receptor cotranscriptional activator, AIB-1
Journal of Bone and Mineral Research

Early-infantile galactosialidosis: Prenatal presentation and postnatal follow-up
American Journal of Medical Genetics
Patel, M.S. and Callahan, J.W. and Zhang, S. and Chan, A.K.J. and Unger, S. and Levin, A.V. and Skomorowski, M.-A. and Feigenbaum, A.S. and O'Brien, K. and Hellmann, J. and Ryan, G. and Velsher, L. and Chitayat, D.
DOI: 10.1002/(SICI)1096-8628(19990702)85:13.0.CO;2-3

Drs. Patel, et al reply
Journal of Rheumatology
Patel, M. and Cole, D.E.G. and Rubin, L.A.

Evidence for the role of the estrogen receptor complex as a determinant of peak bone mass
Arthritis & Rheumatology

The golem of osteoporosis genetics
Journal of Rheumatology

The golem of osteoporosis genetics.
The Journal of rheumatology
Patel, M.S. and Cole, D.E. and Rubin, L.A.

Vitamin D receptor (VDR), estrogen receptor alpha (ER) and collagen IA1 (COLIA1) polymorphisms and peak bone mass
American Journal of Human Genetics

Identification of a sequence motif upstream of the Drosophila dopa decarboxylase gene that enhances heterologous gene expression
DOI: 10.1139/g94-075

Genetic determinants of osteoporosis
The Osteoporosis Primer
Millan S. Patel and Laurence A. Rubin and David E.C. Cole
DOI: 10.1017/cbo9780511545795.011

Adams-Oliver Syndrome
PubMed: 27077170


CIHR Operating Grant - Project: "Amniotic Fluid Virome and Preterm Birth."

Honours & Awards

Global Genes RARE Champion of Hope Award – Innovation category 2017

CORD Scientific Leadership Award 2015

UBC Clinical Faculty Award for Excellence in Clinical Teaching - 2013

Clinical Teaching Award, UBC Department of Medical Genetics 2012

Research Group Members

Maksim Parfyonov, Pediatric Neurology Resident