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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American Journal of Medical Genetics Part A
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Lethal respiratory course and additional features expand the phenotypic spectrum of PIEZO2-related distal arthrogryposis type 5
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Linkage analysis identifies an isolated strabismus locus at 14q12 overlapping with FOXG1 syndrome region
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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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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