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

Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.
Genetics in medicine : official journal of the American College of Medical Genetics
Zhang LX and Lemire G and Gonzaga-Jauregui C and Molidperee S and Galaz-Montoya C and Liu DS and Verloes A and Shillington AG and Izumi K and Ritter AL and Keena B and Zackai E and Campeau PM
DOI: 10.1038/s41436-020-0811-8
PubMed: 32424177
05/2020

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
04/2020

Linkage analysis identifies an isolated strabismus locus at 14q12 overlapping with FOXG1 syndrome region
Ye X( and Roslin NM and Paterson AD and Lyons C and Pegado V and Richmond PA and Shyr C and Fornes O and Han X and Higginson M and Ross C and Giaschi D and Gregory-Evans CY and Patel M and Wasserman WW
DOI: 10.1101/2020.04.24.20077586
04/2020

RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit-successes and challenges.
European journal of pediatrics
Elliott AM and du Souich C and Lehman A and Guella I and Evans DM and Candido T and Tooman L and Armstrong L and Clarke L and Gibson W and Gill H and Lavoie PM and Lewis S and McKinnon ML and Osiovich H
DOI: 10.1007/s00431-019-03399-4
PubMed: 31172278
06/2019

Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex I deficiency
Molecular Genetics and Metabolism Reports
Delia Apatean and Bojana Rakic and Catherine Brunel-Guitton and Glenda Hendson and Renkui Bai and Michael A. Sargent and Pascal M. Lavoie and Millan Patel and Sylvia Stockler-Ipsiroglu
DOI: 10.1016/j.ymgmr.2018.12.006
03/2019

Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex 1 deficiency
Molecular Genetics and Metabolism Reports
Apatean, D. and Rakic, B. and Brunel-Guitton, C. and Hendson, G. and Bai, R. and Sargent, M.A. and Lavoie, P.M. and Patel, M. and Stockler-Ipsiroglu, S.
DOI: 10.1016/j.ymgmr.2019.100472
2019

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
05/2018

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
12/2017

HMMR acts in the PLK1-dependent spindle positioning pathway and supports neural development.
eLife
DOI: 10.7554/eLife.28672
PubMed: 28994651
10/2017

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
07/2016

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
03/2016

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
09/2015

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
03/2015

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
01/2015

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
2015

Ten-year incident osteoporosis-related fractures in the population-based Canadian Multicentre Osteoporosis Study - Comparing site and age-specific risks in women and men
Bone
Prior, J.C. and Langsetmo, L. and Lentle, B.C. and Berger, C. and Goltzman, D. and Kovacs, C.S. and Kaiser, S.M. and Adachi, J.D. and Papaioannou, A. and Anastassiades, T. and Towheed, T. and Josse, R.G. and Brown, J.P. and Leslie, W.D. and Kreiger, N. and Tenenhouse, A. and Poliquin, S. and Godmaire, S. and Dumont, S. and Lentle, B. and Mailloux, L. and Bastien, D. and Robertson, L. and Joyce, C. and Sheppard, E. and Kirkland, S. and Kaiser, S. and Stanfield, B. and Bessette, L. and Gendreau, M. and Hopman, W. and Rees-Milton, K. and Josse, R. and Jamal, S. and Cheung, A.M. and Gardner-Bray, B. and Pickard, L. and Wojciech, P. and Olszynski and Davison, K.S. and Thingvold, J. and Hanley, D.A. and Boyd, S. and Allan, J. and Patel, M. and Vigna, Y.M. and Andjelic, N. and ElhamRahme and Richards, B. and Morin, S. and Jackson, S.
DOI: 10.1016/j.bone.2014.10.026
2015

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
Sheffield, B.S. and Yip, S. and Ruchelli, E.D. and Dunham, C.P. and Sherwin, E. and Brooks, P.A. and Sur, A. and Singh, A. and Human, D.G. and Patel, M.S. and Lee, A.F.
DOI: 10.2350/14-07-1525-CR.1
2015

Genetic sharing with cardiovascular disease risk factors and diabetes reveals novel bone mineral density loci
PLoS ONE
Reppe, S. and Wang, Y. and Thompson, W.K. and McEvoy, L.K. and Schork, A.J. and Zuber, V. and LeBlanc, M. and Bettella, F. and Mills, I.G. and Desikan, R.S. and Djurovic, S. and Gautvik, K.M. and Dale, A.M. and Andreassen, O.A. and Estrada, K. and Styrkarsdottir, U. and Evangelou, E. and Hsu, Y.-H. and Duncan, E.L. and Ntzani, E.E. and Oei, L. and Albagha, O.M.E. and Amin, N. and Kemp, J.P. and Koller, D.L. and Li, G. and Liu, C.-T. and Minster, R.L. and Moayyeri, A. and Vandenput, L. and Willner, D. and Xiao, S.-M. and Yerges-Armstrong, L.M. and Zheng, H.-F. and Alonso, N. and Eriksson, J. and Kammerer, C.M. and Kaptoge, S.K. and Leo, P.J. and Thorleifsson, G. and Wilson, S.G. and Wilson, J.F. and Aalto, V. and Alen, M. and Aragaki, A.K. and Aspelund, T. and Center, J.R. and Dailiana, Z. and Duggan, D.J. and Garcia, M. and Garcia-Giralt, N. and Giroux, S. and Hallmans, G. and Hocking, L.J. and Husted, L.B. and Jameson, K.A. and Khusainova, R. and Kim, G.S. and Kooperberg, C. and Koromila, T. and Kruk, M. and Laaksonen, M. and Lacroix, A.Z. and Lee, S.H. and Leung, P.C. and Lewis, J.R. and Masi, L. and Mencej-Bedrac, S. and Nguyen, T.V. and Nogues, X. and Patel, M.S. and Prezelj, J. and Rose, L.M. and Scollen, S. and Siggeirsdottir, K. and Smith, A.V. and Svensson, O. and Trompet, S. and Trummer, O. and Van Schoor, N.M. and Woo, J. and Zhu, K. and Balcells, S. and Brandi, M.L. and Buckley, B.M. and Cheng, S. and Christiansen, C. and Cooper, C. and Dedoussis, G. and Ford, I. and Frost, M. and Goltzman, D. and Gonz{\'a}lez-Mac{\'i}as, J. and K{\"a}h{\"o}nen, M. and Karlsson, M. and Khusnutdinova, E. and Koh, J.-M. and Kollia, P. and Langdahl, B.L. and Leslie, W.D. and Lips, P. and Ljunggren, {\"O}. and Lorenc, R.S. and Marc, J. and Mellstr{\"o}m, D. and Obermayer-Pietsch, B. and Olmos, J.M. and Pettersson-Kymmer, U. and Reid, D.M. and Riancho, J.A. and Ridker, P.M. and Rousseau, F. and Slagboom, P.E. and Tang, N.L.S. and Urreizti, R. and Van Hul, W. and Viikari, J. and Zarrabeitia, M.T. and Aulchenko, Y.S. and Castano-Betancourt, M. and Grundberg, E. and Herrera, L. and Ingvarsson, T. and Johannsdottir, H. and Kwan, T. and Li, R. and Luben, R. and Medina-G{\'o}mez, C. and Palsson, S.Th. and Rotter, J.I. and Sigurdsson, G. and Van Meurs, J.B.J. and Verlaan, D. and Williams, F.M.K. and Wood, A.R. and Zhou, Y. and Pastinen, T. and Raychaudhuri, S. and Cauley, J.A. and Chasman, D.I. and Clark, G.R. and Cummings, S.R. and Danoy, P. and Dennison, E.M. and Eastell, R. and Eisman, J.A. and Gudnason, V. and Hofman, A. and Jackson, R.D. and Jones, G. and Jukema, J.W. and Khaw, K.-T. and Lehtim{\"a}ki, T. and Liu, Y. and Lorentzon, M. and McCloskey, E. and Mitchell, B.D. and Nandakumar, K. and Nicholson, G.C. and Oostra, B.A. and Peacock, M. and Pols, H.A.P. and Prince, R.L. and Raitakari, O. and Reid, I.R. and Robbins, J. and Sambrook, P.N. and Sham, P.C. and Shuldiner, A.R. and Tylavsky, F.A. and Van Duijn, C.M. and Wareham, N.J. and Cupples, L.A. and Econs, M.J. and Evans, D.M. and Harris, T.B. and Kung, A.W.C. and Psaty, B.M. and Reeve, J. and Spector, T.D. and Streeten, E.A. and Zillikens, M.C. and Thorsteinsdottir, U. and Ohlsson, C. and Karasik, D. and Richards, J.B. and Brown, M.A. and Stefansson, K. and Uitterlinden, A.G. and Ralston, S.H. and Ioannidis, J.P.A. and Kiel, D.P. and Rivadeneira, F.
DOI: 10.1371/journal.pone.0144531
2015

New genetic loci link adipose and insulin biology to body fat distribution
Nature
Shungin, D. and Winkler, T.W. and Croteau-Chonka, D.C. and Ferreira, T. and Locke, A.E. and M{\"a}gi, R. and Strawbridge, R.J. and Pers, T.H. and Fischer, K. and Justice, A.E. and Workalemahu, T. and Wu, J.M.W. and Buchkovich, M.L. and Heard-Costa, N.L. and Roman, T.S. and Drong, A.W. and Song, C. and Gustafsson, S. and Day, F.R. and Esko, T. and Fall, T. and Kutalik, Z. and Luan, J. and Randall, J.C. and Scherag, A. and Vedantam, S. and Wood, A.R. and Chen, J. and Fehrmann, R. and Karjalainen, J. and Kahali, B. and Liu, C.T. and Schmidt, E.M. and Absher, D. and Amin, N. and Anderson, D. and Beekman, M. and Bragg-Gresham, J.L. and Buyske, S. and Demirkan, A. and Ehret, G.B. and Feitosa, M.F. and Goel, A. and Jackson, A.U. and Johnson, T. and Kleber, M.E. and Kristiansson, K. and Mangino, M. and Leach, I.M. and Medina-Gomez, C. and Palmer, C.D. and Pasko, D. and Pechlivanis, S. and Peters, M.J. and Prokopenko, I. and Stan?{\'a}kov{\'a}, A. and Sung, Y.J. and Tanaka, T. and Teumer, A. and Van Vliet-Ostaptchouk, J.V. and Yengo, L. and Zhang, W. and Albrecht, E. and {\"A}rnl{\"o}v, J. and Arscott, G.M. and Bandinelli, S. and Barrett, A. and Bellis, C. and Bennett, A.J. and Berne, C. and Bl{\"u}her, M. and B{\"o}hringer, S. and Bonnet, F. and B{\"o}ttcher, Y. and Bruinenberg, M. and Carba, D.B. and Caspersen, I.H. and Clarke, R. and Daw, E.W. and Deelen, J. and Deelman, E. and Delgado, G. and Doney, A.S. and Eklund, N. and Erdos, M.R. and Estrada, K. and Eury, E. and Friedrich, N. and Garcia, M.E. and Giedraitis, V. and Gigante, B. and Go, A.S. and Golay, A. and Grallert, H. and Grammer, T.B. and Gr{\"a}{\ss}ler, J. and Grewal, J. and Groves, C.J. and Haller, T. and Hallmans, G. and Hartman, C.A. and Hassinen, M. and Hayward, C. and Heikkil{\"a}, K. and Herzig, K.H. and Helmer, Q. and Hillege, H.L. and Holmen, O. and Hunt, S.C. and Isaacs, A. and Ittermann, T. and James, A.L. and Johansson, I. and Juliusdottir, T. and Kalafati, I.P. and Kinnunen, L. and Koenig, W. and Kooner, I.K. and Kratzer, W. and Lamina, C. and Leander, K. and Lee, N.R. and Lichtner, P. and Lind, L. and Lindstr{\"o}m, J. and Lobbens, S. and Lorentzon, M. and Mach, F. and Magnusson, P.K. and Mahajan, A. and McArdle, W.L. and Menni, C. and Merger, S. and Mihailov, E. and Milani, L. and Mills, R. and Moayyeri, A. and Monda, K.L. and Mooijaart, S.P. and M{\"u}hleisen, T.W. and Mulas, A. and M{\"u}ller, G. and M{\"u}ller-Nurasyid, M. and Nagaraja, R. and Nalls, M.A. and Narisu, N. and Glorioso, N. and Nolte, I.M. and Olden, M. and Rayner, N.W. and Renstrom, F. and Ried, J.S. and Robertson, N.R. and Rose, L.M. and Sanna, S. and Scharnagl, H. and Scholtens, S. and Sennblad, B. and Seufferlein, T. and Sitlani, C.M. and Smith, A.V. and Stirrups, K. and Stringham, H.M. and Sundstr{\"o}m, J. and Swertz, M.A. and Swift, A.J. and Syv{\"a}nen, A.C. and Tayo, B.O. and Thorand, B. and Thorleifsson, G. and Tomaschitz, A. and Troffa, C. and van Oort, F.V. and Verweij, N. and Vonk, J.M. and Waite, L.L. and Wennauer, R. and Wilsgaard, T. and Wojczynski, M.K. and Wong, A. and Zhang, Q. and Zhao, J.H. and Brennan, E.P. and Choi, M. and Eriksson, P. and Folkersen, L. and Franco-Cereceda, A. and Gharavi, A.G. and Hedman, ?.K. and Hivert, M.F. and Huang, J. and Kanoni, S. and Karpe, F. and Keildson, S. and Kiryluk, K. and Liang, L. and Lifton, R.P. and Ma, B. and McKnight, A.J. and McPherson, R. and Metspalu, A. and Min, J.L. and Moffatt, M.F. and Montgomery, G.W. and Murabito, J.M. and Nicholson, G. and Nyholt, D.R. and Olsson, C. and Perry, J.R. and Reinmaa, E. and Salem, R.M. and Sandholm, N. and Schadt, E.E. and Scott, R.A. and Stolk, L. and Vallejo, E.E. and Westra, H.J. and Zondervan, K.T. and Amouyel, P. and Arveiler, D. and Bakker, S.J. and Beilby, J. and Bergman, R.N. and Blangero, J. and Brown, M.J. and Burnier, M. and Campbell, H. and Chakravarti, A. and Chines, P.S. and Claudi-Boehm, S. and Collins, F.S. and Crawford, D.C. and Danesh, J. and de Faire, U. and de Geus, E.J. and D{\"o}rr, M. and Erbel, R. and Eriksson, J.G. and Farrall, M. and Ferrannini, E. and Ferri{\`e}res, J. and Forouhi, N.G. and Forrester, T. and Franco, O.H. and Gansevoort, R.T. and Gieger, C. and Gudnason, V. and Haiman, C.A. and Harris, T.B. and Hattersley, A.T. and Heli{\"o}vaara, M. and Hicks, A.A. and Hingorani, A.D. and Hoffmann, W. and Hofman, A. and Homuth, G. and Humphries, S.E. and Hypp{\"o}nen, E. and Illig, T. and Jarvelin, M.R. and Johansen, B. and Jousilahti, P. and Jula, A.M. and Kaprio, J. and Kee, F. and Keinanen-Kiukaanniemi, S.M. and Kooner, J.S. and Kooperberg, C. and Kovacs, P. and Kraja, A.T. and Kumari, M. and Kuulasmaa, K. and Kuusisto, J. and Lakka, T.A. and Langenberg, C. and Le Marchand, L. and Lehtim{\"a}ki, T. and Lyssenko, V. and M{\"a}nnist{\"o}, S. and Marette, A. and Matise, T.C. and McKenzie, C.A. and McKnight, B. and Musk, A.W. and M{\"o}hlenkamp, S. and Morris, A.D. and Nelis, M. and Ohlsson, C. and Oldehinkel, A.J. and Ong, K.K. and Palmer, L.J. and Penninx, B.W. and Peters, A. and Pramstaller, P.P. and Raitakari, O.T. and Rankinen, T. and Rao, D.C. and Rice, T.K. and Ridker, P.M. and Ritchie, M.D. and Rudan, I. and Salomaa, V. and Samani, N.J. and Saramies, J. and Sarzynski, M.A. and Schwarz, P.E. and Shuldiner, A.R. and Staessen, J.A. and Steinthorsdottir, V. and Stolk, R.P. and Strauch, K. and T{\"o}njes, A. and Tremblay, A. and Tremoli, E. and Vohl, M.C. and V{\"o}lker, U. and Vollenweider, P. and Wilson, J.F. and Witteman, J.C. and Adair, L.S. and Bochud, M. and Boehm, B.O. and Bornstein, S.R. and Bouchard, C. and Cauchi, S. and Caulfield, M.J. and Chambers, J.C. and Chasman, D.I. and Cooper, R.S. and Dedoussis, G. and Ferrucci, L. and Froguel, P. and Grabe, H.J. and Hamsten, A. and Hui, J. and Hveem, K. and J{\"o}ckel, K.H. and Kivimaki, M. and Kuh, D. and Laakso, M. and Liu, Y. and M{\"a}rz, W. and Munroe, P.B. and Nj?lstad, I. and Oostra, B.A. and Palmer, C.N. and Pedersen, N.L. and Perola, M. and P{\'e}russe, L. and Peters, U. and Power, C. and Quertermous, T. and Rauramaa, R. and Rivadeneira, F. and Saaristo, T.E. and Saleheen, D. and Sinisalo, J. and Slagboom, P.E. and Snieder, H. and Spector, T.D. and Stefansson, K. and Stumvoll, M. and Tuomilehto, J. and Uitterlinden, A.G. and Uusitupa, M. and van der Harst, P. and Veronesi, G. and Walker, M. and Wareham, N.J. and Watkins, H. and Wichmann, H.E. and Abecasis, G.R. and Assimes, T.L. and Berndt, S.I. and Boehnke, M. and Borecki, I.B. and Deloukas, P. and Franke, L. and Frayling, T.M. and Groop, L.C. and Hunter, D.J. and Kaplan, R.C. and O{'}connell, J.R. and Qi, L. and Schlessinger, D. and Strachan, D.P. and Thorsteinsdottir, U. and van Duijn, C.M. and Willer, C.J. and Visscher, P.M. and Yang, J. and Hirschhorn, J.N. and Zillikens, M.C. and McCarthy, M.I. and Speliotes, E.K. and North, K.E. and Fox, C.S. and Barroso, I. and Franks, P.W. and Ingelsson, E. and Heid, I.M. and Loos, R.J. and Cupples, L.A. and Morris, A.P. and Lindgren, C.M. and Mohlke, K.L. and Dastani, Z. and Timpson, N.J. and Yuan, X. and Henneman, P. and Kizer, J.R. and Lyytikainen, L.P. and Fuchsberger, C. and Small, K. and Coassin, S. and Lohman, K. and Pankow, J.S. and Uh, H.W. and Wu, Y. and Bidulescu, A. and Rasmussen-Torvik, L.J. and Greenwood, C.M. and Ladouceur, M. and Grimsby, J. and Manning, A.K. and Mooser, V.E. and Kapur, K.A. and Frants, R. and Willemsvan-Vandijk, K. and Willems, S.M. and Psaty, B. and Tracy, R.P. and Brody, J. and Chen, I. and Viikari, J. and K{\"a}h{\"o}nen, M. and Evans, D.M. and St Pourcain, B. and Sattar, N. and Carlson, O.D. and Egan, J.M. and van Heemst, D. and Kedenko, L. and Nuotio, M.L. and Loo, B.M. and Kanaya, A. and Haun, M. and Klopp, N. and Katsareli, E. and Couper, D. and Duncan, B.B. and Kloppenburg, M. and Borja, J.B. and Wilson, J.G. and Musani, S. and Guo, X. and Semple, R. and Teslovich, T.M. and Allison, M.A. and Redline, S. and Buxbaum, S.G. and Meulenbelt, I. and Ballantyne, C.M. and Hu, F.B. and Paulweber, B. and Florez, J.C. and Smith, G.D. and Siscovick, D.S. and Kronenberg, F. and Waterworth, D. and Meigs, J.B. and Dupuis, J. and Richards, J.B. and Willenborg, C. and Thompson, J.R. and Erdmann, J. and Goldstein, B.A. and K{\"o}nig, I.R. and Cazier, J.B. and Johansson, ?. and Hall, A.S. and Lee, J.Y. and Grundberg, E. and Havulinna, A.S. and Ho, W.K. and Hopewell, J.C. and Eriksson, N. and Lundmark, P. and Lyytik{\"a}inen, L.P. and Rafelt, S. and Tikkanen, E. and Van Zuydam, N. and Voight, B.F. and Ziegler, A. and Altshuler, D. and Balmforth, A.J. and Braund, P.S. and Burgdorf, C. and Cox, D. and Dimitriou, M. and Do, R. and El Mokhtari, N. and Fontanillas, P. and Groop, L. and Hager, J. and Han, B.G. and Hunt, S.E. and Kang, H.M. and Kessler, T. and Knowles, J.W. and Kolovou, G. and Langford, C. and Lokki, M.L. and Lundmark, A. and Meisinger, C. and Melander, O. and Maouche, S. and Nikus, K. and Peden, J.F. and Rasheed, A. and Rosinger, S. and Rubin, D. and Rumpf, M.P. and Sch{\"a}fer, A. and Sivananthan, M. and Stewart, A.F. and Tan, S.T. and Thorgeirsson, G. and van der Schoot, C.E. and Wagner, P.J. and Wells, G.A. and Wild, P.S. and Yang, T.P. and Basart, H.V. and Boerwinkle, E. and Brambilla, P. and Cambien, F. and Cupples, A.L. and Dehghan, A. and Diemert, P. and Epstein, S.E. and Evans, A. and Ferrario, M.M. and Gauguier, D. and Goodall, A.H. and Hazen, S. and Holm, H. and Iribarren, C. and Jang, Y. and Kim, H.S. and Laaksonen, R. and Ouwehand, W.H. and Parish, S. and Park, J.E. and Rader, D.J. and Shah, S. and Stark, K. and Tr{\'e}gou{\"e}t, D.A. and Virtamo, J. and Wallentin, L. and Zimmermann, M.E. and Nieminen, M.S. and Hengstenberg, C. and Sandhu, M.S. and Pastinen, T. and Hovingh, G.K. and Zalloua, P.A. and Siegbahn, A. and Schreiber, S. and Ripatti, S. and Blankenberg, S.S. and O{'}donnell, C. and Reilly, M. and Collins, R. and Kathiresan, S. and Roberts, R. and Schunkert, H. and Pattaro, C. and K{\"o}ttgen, A. and Garnaas, M. and B{\"o}ger, C.A. and Chen, M.H. and Tin, A. and Taliun, D. and Li, M. and Gao, X. and Gorski, M. and Yang, Q. and Hundertmark, C. and Foster, M.C. and O{'}seaghdha, C.M. and Glazer, N. and Struchalin, M. and Li, G. and Johnson, A.D. and Gierman, H.J. and Hwang, S.J. and Atkinson, E.J. and Cornelis, M.C. and Chouraki, V. and Holliday, E.G. and Sorice, R. and Deshmukh, H.A. and Ulivi, S. and Chu, A.Y. and Murgia, F. and Trompet, S. and Imboden, M. and Kollerits, B. and Pistis, G. and Launer, L. and Aspelund, T. and Eiriksdottir, G. and Mitchell, B.D. and Schmidt, H. and Cavalieri, M. and Rao, M. and de Andrade, M. and Turner, S.T. and Ding, J. and Andrews, J.S. and Freedman, B.I. and D{\"o}ring, A. and Kolcic, I. and Zemunik, T. and Boban, M. and Minelli, C. and Wheeler, H.E. and Igl, W. and Zaboli, G. and Wild, S.H. and Wright, A.F. and Ellinghaus, D. and N{\"o}thlings, U. and Jacobs, G. and Biffar, R. and Endlich, K. and Ernst, F. and Kroemer, H.K. and Nauck, M. and Stracke, S. and V{\"o}lzke, H. and Aulchenko, Y.S. and Polasek, O. and Hastie, N. and Vitart, V. and Helmer, C. and Wang, J.J. and Ruggiero, D. and Bergmann, S. and Nikopensius, T. and Province, M.A. and Ketkar, S. and Colhoun, H. and Robino, A. and Giulianini, F. and Kr{\"a}mer, B.K. and Portas, L. and Ford, I. and Buckley, B.M. and Adam, M. and Thun, G.A. and Sala, C. and Metzger, M. and Mitchell, P. and Ciullo, M. and Kim, S.K. and Palmer, C. and Gasparini, P. and Pirastu, M. and Jukema, J.W. and Probst-Hensch, N.M. and Toniolo, D. and Coresh, J. and Schmidt, R. and Kardia, S.L. and Curhan, G.C. and Gyllensten, U.B. and Franke, A. and Rettig, R. and Parsa, A. and Goessling, W. and Kao, W. and de Boer, I.H. and Peralta, C.A. and Akylbekova, E. and Kramer, H. and Arking, D.E. and Franceschini, N. and Hernandez, D. and Townsend, R.R. and Lumley, T. and Kestenbaum, B. and Haritunians, T. and Waeber, G. and Lu, X. and Leak, T.S. and Aasar?d, K. and Skorpen, F. and Baumert, J. and Devuyst, O. and Mychaleckyj, J.C. and Hallan, S. and Navis, G. and Shlipak, M.G. and Bull, S.B. and Paterson, A.D. and Rotter, J.I. and Beckmann, J.S. and Dreisbach, A.W. and Styrkarsdottir, U. and Evangelou, E. and Hsu, Y.H. and Duncan, E.L. and Ntzani, E.E. and Oei, L. and Albagha, O.M. and Kemp, J.P. and Koller, D.L. and Minster, R.L. and Vandenput, L. and Willner, D. and Xiao, S.M. and Yerges-Armstrong, L.M. and Zheng, H.F. and Alonso, N. and Eriksson, J. and Kammerer, C.M. and Kaptoge, S.K. and Leo, P.J. and Wilson, S. and Aalto, V. and Alen, M. and Aragaki, A.K. and Center, J.R. and Dailiana, Z. and Duggan, D.J. and Garcia-Giralt, N. and Giroux, S. and Hocking, L.J. and Husted, L.B. and Jameson, K.A. and Khusainova, R. and Kim, G.S. and Koromila, T. and Kruk, M. and Laaksonen, M. and Lacroix, A. and Lee, S.H. and Leung, P.C. and Lewis, J.R. and Masi, L. and Mencej-Bedrac, S. and Nguyen, T.V. and Nogues, X. and Patel, M.S. and Prezelj, J. and Scollen, S. and Siggeirsdottir, K. and Svensson, O. and Trummer, O. and van Schoor, N.M. and Woo, J. and Zhu, K. and Balcells, S. and Brandi, M.L. and Cheng, S. and Christiansen, C. and Cooper, C. and Frost, M. and Goltzman, D. and Gonz{\'a}lez-Mac{\'i}as, J. and Karlsson, M. and Khusnutdinova, E. and Koh, J.M. and Kollia, P. and Langdahl, B.L. and Leslie, W.D. and Lips, P. and Ljunggren, {\"O}. and Lorenc, R.S. and Marc, J. and Mellstr{\"o}m, D. and Obermayer-Pietsch, B. and Olmos, J.M. and Pettersson-Kymmer, U. and Reid, D.M. and Riancho, J.A. and Rousseau, F. and Tang, N.L. and Urreizti, R. and Van Hul, W. and Zarrabeitia, M.T. and Castano-Betancourt, M. and Herrera, L. and Ingvarsson, T. and Johannsdottir, H. and Kwan, T. and Li, R. and Luben, R. and Medina-G{\'o}mez, C. and Palsson, S.T. and Reppe, S. and Sigurdsson, G. and van Meurs, J.B. and Verlaan, D. and Williams, F.M. and Zhou, Y. and Gautvik, K.M. and Raychaudhuri, S. and Cauley, J.A. and Clark, G.R. and Cummings, S.R. and Danoy, P. and Dennison, E.M. and Eastell, R. and Eisman, J.A. and Jackson, R.D. and Jones, G. and Khaw, K.T. and McCloskey, E. and Nandakumar, K. and Peacock, M. and Pols, H. and Prince, R.L. and Reid, I.R. and Robbins, J. and Sambrook, P.N. and Sham, P.C. and Tylavsky, F.A. and Econs, M.J. and Kung, A.W. and Reeve, J. and Streeten, E.A. and Karasik, D. and Brown, M.A. and Ralston, S.H. and Ioannidis, J.P. and Kiel, D.P. and Forsblom, C. and Isakova, T. and McKay, G.J. and Williams, W.W. and Sadlier, D.M. and M{\"a}kinen, V.P. and Swan, E.J. and Boright, A.P. and Ahlqvist, E. and Keller, B.J. and Huang, H. and Ahola, A. and Fagerholm, E. and Gordin, D. and Harjutsalo, V. and He, B. and Heikkil{\"a}, O. and Hietala, K. and Kyt{\"o}, J. and Lahermo, P. and Lehto, M. and {\"O}sterholm, A.M. and Parkkonen, M. and Pitk{\"a}niemi, J. and Roseng?rd-B{\"a}rlund, M. and Saraheimo, M. and Sarti, C. and S{\"o}derlund, J. and Soro-Paavonen, A. and Syreeni, A. and Thorn, L.M. and Tikkanen, H. and Tolonen, N. and Tryggvason, K. and Wad{\'e}n, J. and Gill, G.V. and Prior, S. and Guiducci, C. and Mirel, D.B. and Taylor, A. and Hosseini, M. and Parving, H.H. and Rossing, P. and Tarnow, L. and Ladenvall, C. and Alhenc-Gelas, F. and Lefebvre, P. and Rigalleau, V. and Roussel, R. and Tregouet, D.A. and Maestroni, A. and Maestroni, S. and Falhammar, H. and Gu, T. and M{\"o}llsten, A. and Cimponeriu, D. and Mihai, I. and Mota, M. and Mota, E. and Serafinceanu, C. and Stavarachi, M. and Hanson, R.L. and Nelson, R.G. and Kretzler, M. and Panduru, N.M. and Gu, H. and Brismar, K. and Zerbini, G. and Hadjadj, S. and Marre, M. and Lajer, M. and Waggott, D. and Savage, D.A. and Bain, S.C. and Martin, F. and Godson, C. and Groop, P.H. and Maxwell, A.P. and Sengupta, S. and Peloso, G.M. and Ganna, A. and Mora, S. and Chang, H.Y. and Den Hertog, H.M. and Donnelly, L.A. and Fraser, R.M. and Freitag, D.F. and Gurdasani, D. and Kaakinen, M. and Kettunen, J. and Li, X. and Montasser, M.E. and Petersen, A.K. and Saxena, R. and Service, S.K. and Sidore, C. and Surakka, I. and Van den Herik, E.G. and Volcik, K.A. and Asiki, G. and Been, L.F. and Bolton, J.L. and Bonnycastle, L.L. and Burnett, M.S. and Cesana, G. and Elliott, P. and Eyjolfsson, G.I. and Goodarzi, M.O. and Gravito, M.L. and Hartikainen, A.L. and Hung, Y.J. and Jones, M.R. and Kaleebu, P. and Kastelein, J.J. and Kim, E. and Komulainen, P. and Lin, S.Y. and Nieminen, T.V. and Nsubuga, R.N. and Olafsson, I. and Palotie, A. and Papamarkou, T. and Pomilla, C. and Pouta, A. and Ruokonen, A. and Seeley, J. and Silander, K. and Tiret, L. and van Pelt, L. and Wainwright, N. and Wijmenga, C. and Willemsen, G. and Young, E.H. and Bennett, F. and Boomsma, D.I. and Bovet, P. and Chen, Y.D. and Feranil, A.B. and Freimer, N.B. and Hsiung, C.A. and Kes{\"a}niemi, A. and Koudstaal, P.J. and Krauss, R.M. and Kyvik, K.O. and Martin, N.G. and Meneton, P. and Moilanen, L. and Price, J.F. and Sanghera, D.K. and Sheu, W.H. and Whitfield, J.B. and Wolffenbuttel, B.H. and Ordovas, J.M. and Rich, S.S. and Johnson, A. and Johnson, L. and Larson, M. and Levy, D. and Newton-Cheh, C. and O{'}reilly, P. and Palmas, W. and Rice, K. and Smith, A. and Snider, H. and Tobin, M. and Verwoert, G. and Rice, K.M. and Verwoert, G.C. and Pihur, V. and Heath, S. and S{\~o}ber, S. and Arora, P. and Zhang, F. and Lucas, G. and Milaneschi, Y. and Parker, A.N. and Fava, C. and Fox, E.R. and Go, M.J. and Sj{\"o}gren, M. and Vinay, D. and Alexander, M. and Tabara, Y. and Shaw-Hawkins, S. and Whincup, P.H. and Shi, G. and Seielstad, M. and Sim, X. and Nguyen, K.D. and Matullo, G. and Gaunt, T.R. and Onland-Moret, N.C. and Cooper, M.N. and Platou, C.G. and Org, E. and Hardy, R. and Dahgam, S. and Palmen, J. and Kuznetsova, T. and Uiterwaal, C.S. and Adeyemo, A. and Ludwig, B. and Tomaszewski, M. and Tzoulaki, I. and Palmer, N.D. and Chang, Y.P. and Steinle, N.I. and Grobbee, D.E. and Morrison, A.C. and Najjar, S. and Hadley, D. and Connell, J.M. and Day, I.N. and Lawlor, D.A. and Lawrence, R.W. and Ongen, H. and Li, Y. and Young, J.H. and Bis, J.C. and Bolton, J.A. and Chaturvedi, N. and Islam, M. and Jafar, T.H. and Kulkarni, S.R. and Howard, P. and Guarrera, S. and Ricceri, F. and Emilsson, V. and Plump, A.S. and Weder, A.B. and Sun, Y.V. and Scott, L.J. and 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 Stan{\`e}{\'a}kov{\'a}, 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 W{\"u}rtz, 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 K{\"o}rner, 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 Par{\'e}, G. and Peeters, P.H. and Pop, V.J. and R{\"a}ikk{\"o}nen, 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 Kilpel{\"a}inen, 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 Segr{\`e}, 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
2015

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
10/2014

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
09/2014

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
08/2014

Strabismus genetics across a spectrum of eye misalignment disorders.
Clinical genetics
DOI: 10.1111/cge.12367
PubMed: 24579652
08/2014

Combined immunodeficiency associated with homozygous MALT1 mutations.
The Journal of allergy and clinical immunology
DOI: 10.1016/j.jaci.2013.10.045
PubMed: 24332264
05/2014

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
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
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
03/2014

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
02/2014

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
02/2014

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
07/2013

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
10/2012

A variant of unknown significance in the GLA gene causing diagnostic uncertainty in a young female with isolated hypertrophic cardiomyopathy
Gene
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
04/2012

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
04/2012

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
03/2011

Independent external validation of nomograms for predicting risk of low-trauma fracture and hip fracture
CMAJ
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
2011

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
2011

Outcome of prenatally diagnosed isolated clubfoot
Ultrasound in Obstetrics & Gynecology
DOI: 10.1002/uog.7558
2010

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
2010

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
2007

The new field of neuroskeletal biology
Calcified Tissue International
Patel, M.S. and Elefteriou, F.
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

Research Group Members

Maksim Parfyonov, Pediatric Neurology Resident