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.

Osteoporosis, a disease of brittle bones, is the most common disease of later life, particularly affecting women. We are recruiting families with either very strong or very weak bones who also show signs of sympathetic nervous system changes. By finding the genes responsible for the bone changes in these families, we hope to gain insight into the control of bone strength and thereby aid the development of restorative therapies.


Expanding the FANCO/RAD51C associated phenotype: Cleft lip and palate and lobar holoprosencephaly, two rare findings in Fanconi anemia
European Journal of Medical Genetics
Adeline Jacquinet, Lindsay Brown, Jessica Sawkins, Pengfei Liu, Denise Pugash, Margot I. Van Allen, Millan S. Patel
DOI: 10.1016/j.ejmg.2017.12.011

Competing Factors Link to Bone Health in Polycystic Ovary Syndrome: Chronic Low-Grade Inflammation Takes a Toll
Scientific Reports
Shirin Kalyan, Millan S. Patel, Elaine Kingwell, Hélène C. F. Côté, Danmei Liu, Jerilynn C. Prior
DOI: 10.1038/s41598-017-03685-x

Diagnosis of Van den Ende-Gupta syndrome: Approach to the Marden-Walker-like spectrum of disorders
American Journal of Medical Genetics Part A
Karen Y. Niederhoffer, Somayyeh Fahiminiya, Patrice Eydoux, John Mawson, Gen Nishimura, Loydie A. Jerome-Majewska, Millan S. Patel
DOI: 10.1002/ajmg.a.37831

Paternal uniparental disomy 11p15.5 in the pancreatic nodule of an infant with Costello syndrome: Shared mechanism for hyperinsulinemic hypoglycemia in neonates with Costello and Beckwith-Wiedemann syndrome and somatic loss of heterozygosity in Costello syndrome driving clonal expansion.
American journal of medical genetics. Part A
DOI: 10.1002/ajmg.a.37471
PubMed: 26572961

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

GeneYenta: A Phenotype­Based Rare Disease Case Matching Tool Based on Online Dating Algorithms for the Acceleration of Exome InterpretationHUMAN MUTATION
Human Mutation
Michael M. Gottlieb, David J. Arenillas, Savanie Maithripala, Zachary D. Maurer, Maja Tarailo­Graovac, Linlea Armstrong, Millan Patel, Clara van Karnebeek, Wyeth W. Wasserman
DOI: 10.1002/humu.22772

Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture
Journal of Pediatric Endocrinology and Metabolism
Shira Harel, Ana S.A. Cohen, Khalid Hussain, Sarah E. Flanagan, Kamilla Schlade-Bartusiak, Millan Patel, Jaques Courtade, Jenny B.W. Li, Clara Van Karnebeek, Harley Kurata, Sian Ellard, Jean-Pierre Chanoine, William T. Gibson
DOI: 10.1515/jpem-2014-0265

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.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
DOI: 10.2350/14-07-1525-cr.1
PubMed: 25668678

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, Anna Lehman, Dale L. Bodian, Justin Ashworth, Zheyuan Zong, Hong Li, Patricia Lam, Alina Khromykh, Ramaswamy K. Iyer, Joseph G. Vockley, Rajiv Baveja, Ermelinda Santos Silva, Joanne Dixon, Eyby L. Leon, Benjamin D. Solomon, Gustavo Glusman, John E. Niederhuber, Jared C. Roach, 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, Anna-Barbara Stittrich, Gustavo Glusman, Zheyuan Zong, Hong Li, Patrice Eydoux, Christof Senger, Christopher Lyons, Jared C. Roach, 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, Jason R. Cowan, Deborah E. McFadden, 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, Rosemarie Rupps, Maria S. Peñaherrera, Wendy P. Robinson, Millan S. Patel, Patrice Eydoux, Cornelius F. Boerkoel
DOI: 10.1002/ajmg.a.36490

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

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

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, Hatim Ebrahim, Derralynn A. Hughes, Millan Patel, Marion Tipple, Ramona Salvarinova, Jane Gardiner, Hilary Vallance, 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, Kaashif A. Aqeeb, Yalda Moayedi, Erin L. Mathes, Millan S. Patel, David Chitayat, Gilles Lyon, Jules G. Leroy, Huda Y. Zoghbi
DOI: 10.1177/0883073810380047

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

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

Sudden death in spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type
Clinical Dysmorphology
DOI: 10.1097/MCD.0b013e3283186907

Childhood-onset hemiatrophy caused by unilateral morphea
Clinical Dysmorphology
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, Zhishuo Ou, Chad A. Shaw, John W. Belmont, Millan S. Patel, Marybeth Hummel, Stephen Amato, Nicole Tartaglia, Jonathan Berg, V. Reid Sutton, Seema R. Lalani, A. Craig Chinault, Sau W. Cheung, James R. Lupski, 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, Deborah McFadden, Denise Pugash, Karan Sangha, William T. Gibson, 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, Ying Qiao, Chansonette Harvard, Xudong Liu, Francois P Bernier, Barbara McGillivray, Sandra A Farrell, Laura Arbour, Albert E Chudley, Lorne Clarke, William Gibson, Sarah Dyack, Ross McLeod, Teresa Costa, Margot I VanAllen, Siu-li Yong, Gail E Graham, Patrick MacLeod, Millan S Patel, Jane Hurlburt, Jeanette JA Holden, Suzanne ME Lewis, Evica Rajcan-Separovic
DOI: 10.1186/1755-8166-1-23

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

The new field of neuroskeletal biologyNon-Refereed
Calcified Tissue International

Preaxial polydactyly in neurofibromatosis 1
Clinical Dysmorphology
DOI: 10.1097/MCD.0b013e3280e1cc54

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, Millan S. Patel, Gerard Karsenty
DOI: 10.1016/s0079-6123(06)53010-9

Neural control of hematopoietic stem cell mobilization via osteoblastsNon-Refereed
DOI: 10.1138/20060213

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

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

Canonical Wnt Signaling in Differentiated Osteoblasts Controls Osteoclast Differentiation
Developmental Cell
Donald A. Glass, Peter Bialek, Jong Deok Ahn, Michael Starbuck, Millan S. Patel, Hans Clevers, Mark M. Taketo, Fanxin Long, Andrew P. McMahon, Richard A. Lang, 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, Glenn P. Taylor, Simi Bharya, Nouriya Al-Sanna'a, Ian Adatia, David Chitayat, M.E. Suzanne Lewis, Derek G. Human
DOI: 10.1002/ajmg.a.30221

A New Insight into the Formation of Osteolytic Lesions in Multiple Myeloma
New England Journal of Medicine
DOI: 10.1056/NEJMp038176

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

LRP5, Wnt and Bone FormationNon-Refereed
Molecular Medicine

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, Millan S. Patel, Regis Levasseur, Ivan Lobov, Benny H.-J. Chang, Donald A. Glass, Christine Hartmann, Lan Li, Tae-Ho Hwang, Cory F. Brayton, Richard A. Lang, Gerard Karsenty, Lawrence Chan
DOI: 10.1083/jcb.200201089

Regulation of Bone Formation and Vision by LRP5Non-Refereed
New England Journal of Medicine
DOI: 10.1056/NEJM200205163462011

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

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

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, David E. C. Cole, Janice D. Smith, Gillian A. Hawker, Betty Wong, Hoang Trang, Reinhold Vieth, Paul Meltzer, 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, M. S. Patel, D. E. C. Cole, 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

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

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

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

The golem of osteoporosis geneticsEditorial
Journal of Rheumatology

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, Laurence A. Rubin, 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

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

Gui Xiang Yang, Technician