Overview

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.

Publications

NOTCH1 loss of the TAD and PEST domain: An antimorph?
American Journal of Medical Genetics Part A
Pierre Boerkoel and Stephanie Huynh and Gui Xiang Yang and Cornelius F. Boerkoel and Millan S. Patel and Anna Lehman and Jefferson Terry and Adrienne Elbert
DOI: 10.1002/ajmg.a.63167
06/2023

Lethal respiratory course and additional features expand the phenotypic spectrum of PIEZO2-related distal arthrogryposis type 5
American Journal of Medical Genetics Part A
Agata Oliwa and Glenda Hendson and Cheryl Longman and Anne Synnes and Kim Seath and Angela Barnicoat and Judith G. Hall and Millan S. Patel
DOI: 10.1002/ajmg.a.63019
02/2023

Impact of Variation in Practice in the Prenatal Reporting of Variants of Uncertain Significance by Commercial Laboratories: Need for Greater Adherence to Published Guidelines
Obstetrical and Gynecological Survey
Cornthwaite, M. and Turner, K. and Armstrong, L. and Boerkoel, C.F. and Chang, C. and Lehman, A. and Nikkel, S.M. and Patel, M.S. and van Allen, M. and Langlois, S.
DOI: 10.1097/01.ogx.0000935836.78364.35
2023

The practice of genomic medicine: A delineation of the process and its governing principles
Frontiers in Medicine
Handra, J. and Elbert, A. and Gazzaz, N. and Moller-Hansen, A. and Hyunh, S. and Lee, H.K. and Boerkoel, P. and Alderman, E. and Anderson, E. and Clarke, L. and Hamilton, S. and Hamman, R. and Hughes, S. and Ip, S. and Langlois, S. and Lee, M. and Li, L. and Mackenzie, F. and Patel, M.S. and Prentice, L.M. and Sangha, K. and Sato, L. and Seath, K. and Seppelt, M. and Swenerton, A. and Warnock, L. and Zambonin, J.L. and Boerkoel, C.F. and Chin, H.-L. and Armstrong, L.
DOI: 10.3389/fmed.2022.1071348
2023

Prevalence of ocular anomalies is increased in women with polycystic ovary syndrome—exploration of association with PAX6 genotype
Ophthalmic Genetics
Zheyuan Zong and Shirin Kalyan and Cameron Andres and Sueda Akkor and Jerilynn C. Prior and Millan S. Patel
DOI: 10.1080/13816810.2022.2025605
05/2022

Pathologic Skull Fracture in a Near-Term Neonate with Arthrochalasia Type Ehlers-Danlos Syndrome: A Case Report
Fetal and Pediatric Pathology
Yi Ariel Liu and Chieko Chijiwa and Christopher P. Dunham and Douglas H. Jamieson and Alfonso Solimano and Julianne van Schalkwyk and Millan S. Patel and Anna F. Lee
DOI: 10.1080/15513815.2020.1753269
01/2022

Impact of variation in practice in the prenatal reporting of variants of uncertain significance by commercial laboratories: Need for greater adherence to published guidelines
Prenatal Diagnosis
Cornthwaite, M. and Turner, K. and Armstrong, L. and Boerkoel, C.F. and Chang, C. and Lehman, A. and Nikkel, S.M. and Patel, M.S. and Van Allen, M. and Langlois, S.
DOI: 10.1002/pd.6232
2022

Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study
Human Genetics and Genomics Advances
Elliott, A.M. and Adam, S. and du Souich, C. and Lehman, A. and Nelson, T.N. and van Karnebeek, C. and Alderman, E. and Armstrong, L. and Aubertin, G. and Blood, K. and Boelman, C. and Boerkoel, C. and Bretherick, K. and Brown, L. and Chijiwa, C. and Clarke, L. and Couse, M. and Creighton, S. and Watts-Dickens, A. and Gibson, W.T. and Gill, H. and Tarailo-Graovac, M. and Hamilton, S. and Heran, H. and Horvath, G. and Huang, L. and Hulait, G.K. and Koehn, D. and Lee, H.K. and Lewis, S. and Lopez, E. and Louie, K. and Niederhoffer, K. and Matthews, A. and Meagher, K. and Peng, J.J. and Patel, M.S. and Race, S. and Richmond, P. and Rupps, R. and Salvarinova, R. and Seath, K. and Selby, K. and Steinraths, M. and Stockler, S. and Tang, K. and Tyson, C. and van Allen, M. and Wasserman, W. and Mwenifumbo, J. and Friedman, J.M.
DOI: 10.1016/j.xhgg.2022.100108
2022

Human complete NFAT1 deficiency causes a triad of joint contractures, osteochondromas, and B-cell malignancy
Blood
Sharma, M. and Fu, M.P. and Lu, H.Y. and Sharma, A.A. and Modi, B.P. and Michalski, C. and Lin, S. and Dalmann, J. and Salman, A. and Del Bel, K.L. and Waqas, M. and Terry, J. and Setiadi, A. and Lavoie, P.M. and Wasserman, W.W. and Mwenifumbo, J. and Kobor, M.S. and Lee, A.F. and Kuchenbauer, F. and Lehman, A. and Cheng, S. and Cooper, A. and Patel, M.S. and Turvey, S.E.
DOI: 10.1182/blood.2022015674
2022

Human germline biallelic complete NFAT1 deficiency causes the triad of progressive joint contractures, osteochondromas, and susceptibility to B cell malignancy
medRxiv
Sharma, M. and Fu, M.P. and Lu, H.Y. and Sharma, A.A. and Modi, B.P. and Michalski, C. and Lin, S. and Dalmann, J. and Salman, A. and Del Bel, K.L. and Waqas, M. and Terry, J. and Setiadi, A. and Lavoie, P.M. and Wasserman, W.W. and Mwenifumbo, J. and Kobor, M.S. and Lee, A.F. and Lehman, A. and Cheng, S. and Cooper, A. and Patel, M.S. and Turvey, S.E.
DOI: 10.1101/2022.01.30.22269378
2022

Comprehensive human amniotic fluid metagenomics supports the sterile womb hypothesis
Scientific Reports
Wang, H.C. and Yang, G.X. and Hu, Y. and Lam, P. and Sangha, K. and Siciliano, D. and Swenerton, A. and Miller, R. and Tilley, P. and Von Dadelszen, P. and Kalyan, S. and Tang, P. and Patel, M.S.
DOI: 10.1038/s41598-022-10869-7
2022

Somatic mosaicism detected by genome-wide sequencing in 500 parent–child trios with suspected genetic disease: clinical and genetic counseling implications
Molecular Case Studies
Courtney B. Cook and Linlea Armstrong and Cornelius F. Boerkoel and Lorne A. Clarke and Christèle du Souich and Michelle K. Demos and William T. Gibson and Harinder Gill and Elena Lopez and Millan S. Patel and Kathryn Selby and Ziad Abu-Sharar and Alison M. Elliott and Jan M. Friedman
DOI: 10.1101/mcs.a006125
12/2021

New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder
Human Mutation
Justin O. Szot and Anne Slavotinek and Karen Chong and Oliver Brandau and Marjan Nezarati and Anna M. Cueto-González and Millan S. Patel and Walter P. Devine and Shannon Rego and Alicia P. Acyinena and Patrick Shannon and Diane Myles-Reid and Susan Blaser and Tim V. Mieghem and Halenur Yavuz-Kienle and Heyko Skladny and Kristen Miller and Miereia D. T. Riera and Silvia A. Martínez and Eduardo F. Tizzano and Lucie Dupuis and Dimitri James Stavropoulos and Vanda McNiven and Roberto Mendoza-Londono and Alison M. Elliott and Robert S. Phillips and Gavin Chapman and Sally L. Dunwoodie
DOI: 10.1002/humu.24211
07/2021

Genetic mechanisms of critical illness in COVID-19
Nature
Pairo-Castineira, E. and Clohisey, S. and Klaric, L. and Bretherick, A.D. and Rawlik, K. and Pasko, D. and Walker, S. and Parkinson, N. and Fourman, M.H. and Russell, C.D. and Furniss, J. and Richmond, A. and Gountouna, E. and Wrobel, N. and Harrison, D. and Wang, B. and Wu, Y. and Meynert, A. and Griffiths, F. and Oosthuyzen, W. and Kousathanas, A. and Moutsianas, L. and Yang, Z. and Zhai, R. and Zheng, C. and Grimes, G. and Beale, R. and Millar, J. and Shih, B. and Keating, S. and Zechner, M. and Haley, C. and Porteous, D.J. and Hayward, C. and Yang, J. and Knight, J. and Summers, C. and Shankar-Hari, M. and Klenerman, P. and Turtle, L. and Ho, A. and Moore, S.C. and Hinds, C. and Horby, P. and Nichol, A. and Maslove, D. and Ling, L. and McAuley, D. and Montgomery, H. and Walsh, T. and Pereira, A.C. and Renieri, A. and Millar, J. and Walsh, T. and Ponting, C. and Meikle, J. and Finernan, P. and Mcmaster, E. and Law, A. and Baillie, J.K. and Paterson, T. and Wackett, T. and Armstrong, R. and Clark, R. and Coutts, A. and Donnelly, L. and Gilchrist, T. and Hafezi, K. and Macgillivray, L. and Maclean, A. and McCafferty, S. and Morrice, K. and Weaver, J. and Boz, C. and Golightly, A. and Ward, M. and Mal, H. and Szoor-McElhinney, H. and Brown, A. and Hendry, R. and Stenhouse, A. and Cullum, L. and Law, D. and Law, S. and Law, R. and Swets, M. and Day, N. and Taneski, F. and Duncan, E. and Parkinson, N. and Collier, D. and Wood, S. and Zak, A. and Borra, C. and Matharu, M. and May, P. and Alldis, Z. and Mitchelmore, O. and Bowles, R. and Easthope, A. and Bibi, F. and Lancoma-Malcolm, I. and Gurasashvili, J. and Pheby, J. and Shiel, J. and Bolton, M. and Patel, M. and Taylor, M. and Zongo, O. and Ebano, P. and Harding, P. and Astin-Chamberlain, R. and Choudhury, Y. and Cox, A. and Kallon, D. and Burton, M. and Hall, R. and Blowes, S. and Prime, Z. and Biddle, J. and Prysyazhna, O. and Newman, T. and Tierney, C. and Kassam, J. and Ostermann, M. and Campos, S. and Bociek, A. and Lim, R. and Grau, N. and Jones, T.O. and Whitton, C. and Marotti, M. and Arbane, G. and Bonner, S. and Hugill, K. and Reid, J. and Welters, I. and Waugh, V. and Williams, K. and Shaw, D. and Roman, J.F. and Martinez, M.L. and Johnson, E. and Waite, A. and Johnston, B. and Hamilton, D. and Mulla, S. and McPhail, M. and Smith, J. and Baillie, J.K. and Barclay, L. and Hope, D. and McCulloch, C. and McQuillan, L. and Clark, S. and Singleton, J. and Priestley, K. and Rea, N. and Callaghan, M. and Campbell, R. and Andrew, G. and Marshall, L. and McKechnie, S. and Hutton, P. and Bashyal, A. and Davidson, N. and Polgarova, P. and Stroud, K. and Pathan, N. and Elston, K. and Agrawal, S. and Battle, C. and Newey, L. and Rees, T. and Harford, R. and Brinkworth, E. and Williams, M. and Murphy, C. and White, I. and Croft, M. and Bandla, N. and Gellamucho, M. and Tomlinson, J. and Turner, H. and Davies, M. and Quinn, A. and Hussain, I. and Thompson, C. and Parker, H. and Bradley, R. and Griffiths, R. and Scriven, J. and Nilsson, A. and Bates, M. and Dasgin, J. and Gill, J. and Puxty, A. and Cathcart, S. and Salutous, D. and Turner, L. and Duffy, K. and Puxty, K. and Joseph, A. and Herdman-Grant, R. and Simms, R. and Swain, A. and Naranjo, A. and Crowe, R. and Sollesta, K. and Loveridge, A. and Baptista, D. and Morino, E. and Davey, M. and Golden, D. and Jones, J. and Moreno Cuesta, J. and Haldeos, A. and Bakthavatsalam, D. and Vincent, R. and Elhassan, M. and Xavier, K. and Ganesan, A. and Purohit, D. and Abdelrazik, M. and Morgan, J. and Akeroyd, L. and Bano, S. and Lawton, T. and Warren, D. and Bromley, M. and Sellick, K. and Gurr, L. and Wilkinson, B. and Nagarajan, V. and Szedlak, P. and Cupitt, J. and Stoddard, E. and Benham, L. and Preston, S. and Laha, S. and Slawson, N. and Bradshaw, Z. and Brown, J. and Caswell, M. and Melling, S. and Bamford, P. and Faulkner, M. and Cawley, K. and Jeffrey, H. and London, E. and Sainsbury, H. and Nagra, I. and Nasir, F. and Dunmore, C. and Jones, R. and Abraheem, A. and Al-Moasseb, M. and Girach, R. and Padden, G. and Egan, J. and Brantwood, C. and Alexander, P. and Bradley-Potts, J. and Allen, S. and Felton, T. and Manna, S. and Farnell-Ward, S. and Leaver, S. and Queiroz, J. and Maccacari, E. and Dawson, D. and Delgado, C.C. and Saluzzio, R.P. and Ezeobu, O. and Ding, L. and Sicat, C. and Kanu, R. and Durrant, G. and Texeira, J. and Harrison, A. and Samakomva, T. and Scriven, J. and Willis, H. and Hopkins, B. and Thrasyvoulou, L. and Jackson, M. and Zaki, A. and Tibke, C. and Bennett, S. and Woodyatt, W. and Kent, A. and Goodwin, E. and Brandwood, C. and Clark, R. and Smith, L. and Rooney, K. and Thomson, N. and Rodden, N. and Hughes, E. and McGlynn, D. and Clark, C. and Clark, P. and Abel, L. and Sundaram, R. and Gemmell, L. and Brett, M. and Hornsby, J. and MacGoey, P. and Price, R. and Digby, B. and O?Neil, P. and McConnell, P. and Henderson, P. and Henderson, S. and Sim, M. and Kennedy-Hay, S. and McParland, C. and Rooney, L. and Baxter, N. and Pogson, D. and Rose, S. and Daly, Z. and Brimfield, L. and Phull, M.K. and Hussain, M. and Pogreban, T. and Rosaroso, L. and Salciute, E. and Grauslyte, L. and Brealey, D. and Raith, E. and MacCallum, N. and Bercades, G. and Hass, I. and Smyth, D. and Reyes, A. and Martir, G. and Clement, I.D. and Webster, K. and Hays, C. and Gulati, A. and Hodgson, L. and Margarson, M. and Gomez, R. and Baird, Y. and Thirlwall, Y. and Folkes, L. and Butler, A. and Meadows, E. and Moore, S. and Raynard, D. and Fox, H. and Riddles, L. and King, K. and Kimber, S. and Hobden, G. and McCarthy, A. and Cannons, V. and Balagosa, I. and Chadbourn, I. and Gardner, A. and Horner, D. and McLaughlanv, D. and Charles, B. and Proudfoot, N. and Marsden, T. and McMorrow, L. and Blackledge, B. and Pendlebury, J. and Harvey, A. and Apetri, E. and Basikolo, C. and Catlow, L. and Doonan, R. and Knowles, K. and Lee, S. and Lomas, D. and Lyons, C. and Perez, J. and Poulaka, M. and Slaughter, M. and Slevin, K. and Taylor, M. and Thomas, V. and Walker, D. and Harris, J. and Drummond, A. and Tully, R. and Dearden, J. and Philbin, J. and Munt, S. and Rishton, C. and O?Connor, G. and Mulcahy, M. and Dobson, E. and Cuttler, J. and Edward, M. and Norris, J. and Hanson, K. and Poole, A. and Rose, A. and Sloan, B. and Buckley, S. and Brooke, H. and Smithson, E. and Charlesworth, R. and Sandhu, R. and Thirumaran, M. and Wagstaff, V. and Suarez, J.C. and Kaliappan, A. and Vertue, M. and Nicholson, A. and Riches, J. and Solesbury, A. and Kittridge, L. and Forsey, M. and Maloney, G. and Cole, J. and Davies, M. and Davies, R. and Hill, H. and Thomas, E. and Williams, A. and Duffin, D. and Player, B. and Radhakrishnan, J. and Gibson, S. and Lyle, A. and McNeela, F. and Patel, B. and Gummadi, M. and Sloane, G. and Dormand, N. and Salmi, S. and Farzad, Z. and Cristiano, D. and Liyanage, K. and Thwaites, V. and Varghese, M. and Meredith, M. and Mills, G. and Willson, J. and Harrington, K. and Lenagh, B. and Cawthron, K. and Masuko, S. and Raithatha, A. and Bauchmuller, K. and Wiles, M. and Ahmad, N. and Barker, J. and Jackson, Y. and Kibutu, F. and Bird, S. and Watson, G. and Martin, J. and Bevan, E. and Brown, C.W. and Trodd, D. and English, K. and Bell, G. and Wilcox, L. and Katary, A. and Gopal, S. and Lake, V. and Harris, N. and Metherell, S. and Radford, E. and Scriven, J. and Moore, F. and Bancroft, H. and Daglish, J. and Sangombe, M. and Carmody, M. and Rhodes, J. and Bellamy, M. and Garg, A. and Kuravi, A. and Virgilio, E. and Ranga, P. and Butler, J. and Botfield, L. and Dexter, C. and Fletcher, J. and Shanmugasundaram, P. and Hambrook, G. and Burn, I. and Manso, K. and Thornton, D. and Tebbutt, J. and Penn, R. and Hulme, J. and Hussain, S. and Maqsood, Z. and Joseph, S. and Colley, J. and Hayes, A. and Ahmed, C. and Haq, R. and Clamp, S. and Kumar, R. and Purewal, M. and Baines, B. and Frise, M. and Jacques, N. and Coles, H. and Caterson, J. and Rai, S.G. and Brunton, M. and Tilney, E. and Keating, L. and Walden, A. and Antcliffe, D. and Brett, S. and Gordon, A. and Templeton, M. and Rojo, R. and Banach, D. and Arias, S.S. and Fernandez, Z. and Coghlan, P. and Williams, D. and Jardine, C. and Bewley, J. and Sweet, K. and Grimmer, L. and Johnson, R. and Garland, Z. and Gumbrill, B. and Phillips, C. and Ortiz-Ruiz de Gordoa, L. and Peasgood, E. and Tridente, A. and Shuker, K. and Greer, S. and Lynch, C. and Pothecary, C. and Roche, L. and Deacon, B. and Turner, K. and Singh, J. and Howe, G.S. and Paul, P. and Gill, M. and Wynter, I. and Ratnam, V. and Shelton, S. and Naisbitt, J. and Melville, J. and Baruah, R. and Morrison, S. and McGregor, A. and Parris, V. and Mpelembue, M. and Srikaran, S. and Dennis, C. and Sukha, A. and Williams, A. and Verlander, M. and Holding, K. and Riches, K. and Downes, C. and Swan, C. and Rostron, A. and Roy, A. and Woods, L. and Cornell, S. and Wakinshaw, F. and Creagh-Brown, B. and Blackman, H. and Salberg, A. and Smith, E. and Donlon, S. and Mtuwa, S. and Michalak-Glinska, N. and Stone, S. and Beazley, C. and Pristopan, V. and Nikitas, N. and Lankester, L. and Wells, C. and Raj, A.S. and Fletcher, K. and Khade, R. and Tsinaslanidis, G. and MacMahon, M. and Fowler, S. and McGregor, A. and Coventry, T. and Stewart, R. and Wren, L. and Mwaura, E. and Mew, L. and Rose, A. and Scaletta, D. and Williams, F. and Inweregbu, K. and Nicholson, A. and Lancaster, N. and Cunningham, M. and Daniels, A. and Harrison, L. and Hope, S. and Jones, S. and Crew, A. and Wray, G. and Matthews, J. and Crawley, R. and Carter, J. and Birkinshaw, I. and Ingham, J. and Scott, Z. and Pearson, H. and Howard, K. and Joy, R. and Roche, S. and Clark, M. and Purvis, S. and Morrison, A. and Strachan, D. and Taylor, M. and Clements, S. and Black, K. and Parmar, C. and Altabaibeh, A. and Simpson, K. and Mostoles, L. and Gilbert, K. and Ma, L. and Alvaro, A. and Thomas, M. and Faulkner, B. and Worner, R. and Hayes, K. and Gendall, E. and Blakemore, H. and Borislavova, B. and Goff, E. and Vuylsteke, A. and Mwaura, L. and Zamikula, J. and Garner, L. and Mitchell, A. and Mepham, S. and Cagova, L. and Fofano, A. and Holcombe, H. and Praman, K. and Szakmany, T. and Heron, A.E. and Cherian, S. and Cutler, S. and Roynon-Reed, A. and Randell, G. and Convery, K. and Stammers, K. and Fottrell-Gould, D. and Hudig, L. and Keshet-Price, J. and Peters, M. and O?Neill, L. and Ray, S. and Belfield, H. and McHugh, T. and Jones, G. and Akinkugbe, O. and Tomas, A. and Abaleke, E. and Beech, E. and Meghari, H. and Yussuf, S. and Bamford, A. and Hairsine, B. and Dooks, E. and Farquhar, F. and Packham, S. and Bates, H. and McParland, C. and Armstrong, L. and Kaye, C. and Allan, A. and Medhora, J. and Liew, J. and Botello, A. and Anderson, F. and Cusack, R. and Golding, H. and Prager, K. and Williams, T. and Leggett, S. and Golder, K. and Male, M. and Jones, O. and Criste, K. and Marani, M. and Anumakonda, V. and Amin, V. and Karthik, K. and Kausar, R. and Anastasescu, E. and Reid, K. and Smith, M. and Hormis, A. and Walker, R. and Collier, D. and Duncan, T. and Uriel, A. and Ustianowski, A. and T-Michael, H. and Bruce, M. and Connolly, K. and Smith, K. and Partridge, R. and Griffin, D. and Mupudzi, M. and Muchenje, N. and Martin, D. and Filipe, H. and Eastgate, C. and Jackson, C. and Gratrix, A. and Foster, L. and Martinson, V. and Stones, E. and Abernathy, C. and Parkinson, P. and Reed, A. and Prendergast, C. and Rogers, P. and Woodruff, M. and Shokkar, R. and Kaul, S. and Barron, A. and Collins, C. and Beavis, S. and Whileman, A. and Dale, K. and Hawes, J. and Pritchard, K. and Gascoyne, R. and Stevenson, L. and Jha, R. and Lim, L. and Krishnamurthy, V. and Parker, R. and Turner-Bone, I. and Wilding, L. and Reddy, A. and Whiteley, S. and Wilby, E. and Howcroft, C. and Aspinwall, A. and Charlton, S. and Ogg, B. and Menzies, D. and Pugh, R. and Allan, E. and Lean, R. and Davies, F. and 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Ten-year incident osteoporosis-related fractures in the population-based Canadian Multicentre Osteoporosis Study - Comparing site and age-specific risks in women and men
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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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2015

Genetic sharing with cardiovascular disease risk factors and diabetes reveals novel bone mineral density loci
PLoS ONE
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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.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
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Prenatal and postnatal findings in serpentine fibula polycystic kidney syndrome and a review of the NOTCH2 spectrum disorders.
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10/2014

Mutations in NOTCH1 Cause Adams-Oliver Syndrome
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09/2014

Diffuse angiopathy in Adams-Oliver syndrome associated with truncatingDOCK6mutations
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Strabismus genetics across a spectrum of eye misalignment disorders.
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Anterolateral diaphragmatic hernia with body wall defect understood in relation to the abaxial domain
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04/2014

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
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A genome-wide copy number association study of osteoporotic fractures points to the 6p25.1 locus.
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Assessment of gene-by-sex interaction effect on bone mineral density.
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A variant of unknown significance in the GLA gene causing diagnostic uncertainty in a young female with isolated hypertrophic cardiomyopathy
Gene
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04/2012

Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
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Pontocerebellar Hypoplasia: Review of Classification and Genetics, and Exclusion of Several Genes Known to Be Important for Cerebellar Development
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03/2011

Independent external validation of nomograms for predicting risk of low-trauma fracture and hip fracture
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The burden of osteoporotic fractures beyond acute care: The Canadian Multicentre Osteoporosis Study (CaMos)
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Outcome of prenatally diagnosed isolated clubfoot
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Peak bone mass from longitudinal data: Implications for the prevalence, pathophysiology, and diagnosis of osteoporosis
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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
2009

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
2009

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

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
01/2008

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
2008

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
2008

The new field of neuroskeletal biology
Calcified Tissue International
DOI: 10.1007/s00223-007-9015-3
2007

Preaxial polydactyly in neurofibromatosis 1
Clinical Dysmorphology
Shinawi, M. and Patel, M.S.
DOI: 10.1097/MCD.0b013e3280e1cc54
2007

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
2007

Susceptibility to Infectious Diseases: the Importance of Host Genetics
American Journal of Medical Genetics
2007

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
2006

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
2006

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
2006

Neural control of hematopoietic stem cell mobilization via osteoblasts
BoneKEy-Osteovision
DOI: 10.1138/20060213
2006

WNT7b mediates macrophage-induced programmed cell death in patterning of the vasculature
Nature
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
09/2005

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
05/2005

The Molecular Clock Mediates Leptin-Regulated Bone Formation
Cell
DOI: 10.1016/j.cell.2005.06.028
2005

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
2004

LRP5, Wnt and Bone Formation
Molecular Medicine
2003

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
2003

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
2003

Regulation of bone formation by Wnt signaling
American Journal of Human Genetics
2003

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
04/2002

Regulation of Bone Formation and Vision by LRP5
New England Journal of Medicine
DOI: 10.1056/NEJM200205163462011
2002

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
2001

Mouse genetics as a tool to study bone development and physiology
Osteoporosis, 2nd edition
2001

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
11/2000

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
04/2000

Three novel SALL1 mutations extend the mutational spectrum in Townes-Brocks syndrome
Journal of Medical Genetics
DOI: 10.1136/jmg.37.4.303
04/2000

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
2000

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
2000

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
07/1999

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
1999

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
1999

Drs. Patel, et al reply
Journal of Rheumatology
Patel, M. and Cole, D.E.G. and Rubin, L.A.
1999

Evidence for the role of the estrogen receptor complex as a determinant of peak bone mass
Arthritis & Rheumatology
1999

The golem of osteoporosis genetics
Journal of Rheumatology
1998

The golem of osteoporosis genetics.
The Journal of rheumatology
Patel, M.S. and Cole, D.E. and Rubin, L.A.
1998

Vitamin D receptor (VDR), estrogen receptor alpha (ER) and collagen IA1 (COLIA1) polymorphisms and peak bone mass
American Journal of Human Genetics
1997

Identification of a sequence motif upstream of the Drosophila dopa decarboxylase gene that enhances heterologous gene expression
Genome
DOI: 10.1139/g94-075
1994

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

Research
Grants

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