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.


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 and Lindsay Brown and Jessica Sawkins and Pengfei Liu and Denise Pugash and Margot I. Van Allen and 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 and Millan S. Patel and Elaine Kingwell and Hélène C. F. Côté and Danmei Liu and Jerilynn C. Prior
DOI: 10.1038/s41598-017-03685-x

HMMR acts in the PLK1-dependent spindle positioning pathway and supports neural development.
DOI: 10.7554/eLife.28672
PubMed: 28994651

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 and Somayyeh Fahiminiya and Patrice Eydoux and John Mawson and Gen Nishimura and Loydie A. Jerome-Majewska and 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 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

GeneYenta: A Phenotype­Based Rare Disease Case Matching Tool Based on Online Dating Algorithms for the Acceleration of Exome Interpretation
Human Mutation
Michael M. Gottlieb and David J. Arenillas and Savanie Maithripala and Zachary D. Maurer and Maja Tarailo­Graovac and Linlea Armstrong and Millan Patel and Clara van Karnebeek and 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 and Ana S.A. Cohen and Khalid Hussain and Sarah E. Flanagan and Kamilla Schlade-Bartusiak and Millan Patel and Jaques Courtade and Jenny B.W. Li and Clara Van Karnebeek and Harley Kurata and Sian Ellard and Jean-Pierre Chanoine and 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 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

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 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
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 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

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

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

Neural control of hematopoietic stem cell mobilization via osteoblasts
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 and Laurence E. Becker and Ants Toi and Dawna L. Armstrong and David Chitayat
DOI: 10.1002/ajmg.a.31095

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
DOI: 10.1056/NEJMp038176

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

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

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

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