Tackling healthcare access barriers for individuals with autism from diagnosis to adulthood
Pediatric Research
Malik-Soni, N. and Shaker, A. and Luck, H. and Mullin, A.E. and Wiley, R.E. and Lewis, M.E.S. and Fuentes, J. and Frazier, T.W.
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2022

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders
Human Genetics and Genomics Advances
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2022

Genomic architecture of Autism Spectrum Disorder from comprehensive whole-genome sequence annotation
medRxiv
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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.
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2022

Contribution of Multiple Inherited Variants to Autism Spectrum Disorder (ASD) in a Family with 3 Affected Siblings
Jasleen Dhaliwal and Ying Qiao and Kristina Calli and Sally Martell and Simone Race and Chieko Chijiwa and Armansa Glodjo and Steven Jones and Evica Rajcan-Separovic and Stephen W. Scherer and Suzanne Lewis
DOI: 10.3390/genes12071053
2021

A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder
Livia O. Loureiro and Jennifer L. Howe and Miriam S. Reuter and Alana Iaboni and Kristina Calli and Delnaz Roshandel and Iva Pritišanac and Alan Moses and Julie D. Forman-Kay and Brett Trost and Mehdi Zarrei and Olivia Rennie and Lynette Y. S. Lau and Christian R. Marshall and Siddharth Srivastava and Brianna Godlewski and Elizabeth D. Buttermore and Mustafa Sahin and Dean Hartley and Thomas Frazier and Jacob Vorstman and Stelios Georgiades and Suzanne M. E. Lewis and Peter Szatmari and Clarrisa A. (Lisa) Bradley and Anne-Claude Tabet and Marjolaine Willems and Serge Lumbroso and Amélie Piton and James Lespinasse and Richard Delorme and Thomas Bourgeron and Evdokia Anagnostou and Stephen W. Scherer
DOI: 10.1038/s41525-021-00254-0
2021

Germline AGO2 mutations impair RNA interference and human neurological development.
Nature communications
Lessel D and Zeitler DM and Reijnders MRF and Kazantsev A and Hassani Nia F and Bartholomäus A and Martens V and Bruckmann A and Graus V and McConkie-Rosell A and McDonald M and Kreienkamp HJ
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11/2020

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.
American journal of medical genetics. Part A
Dyment DA and O'Donnell-Luria A and Agrawal PB and Coban Akdemir Z and Aleck KA and Antaki D and Al Sharhan H and Au PB and Aydin H and Beggs AH and Bilguvar K and Boerwinkle E and Innes AM
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10/2020

Genome-wide detection of tandem DNA repeats that are expanded in autism
Nature
Trost, B. and Engchuan, W. and Nguyen, C.M. and Thiruvahindrapuram, B. and Dolzhenko, E. and Backstrom, I. and Mirceta, M. and Mojarad, B.A. and Yin, Y. and Dov, A. and Chandrakumar, I. and Prasolava, T. and Shum, N. and Hamdan, O. and Pellecchia, G. and Howe, J.L. and Whitney, J. and Klee, E.W. and Baheti, S. and Amaral, D.G. and Anagnostou, E. and Elsabbagh, M. and Fernandez, B.A. and Hoang, N. and Lewis, M.E.S. and Liu, X. and Sjaarda, C. and Smith, I.M. and Szatmari, P. and Zwaigenbaum, L. and Glazer, D. and Hartley, D. and Stewart, A.K. and Eberle, M.A. and Sato, N. and Pearson, C.E. and Scherer, S.W. and Yuen, R.K.C.
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2020

Author response for "Whole genome sequencing and variant discovery in the ASPIRE autism spectrum disorder cohort"
D. Benjamin Callaghan and Sanja Rogic and Powel Patrick Cheng Tan and Kristina Calli and Ying Qiao and Robert Baldwin and Matthew Jacobson and Manuel Belmadani and Nathan Holmes and Chang Yu and Yanchen Li and Franz-Edward Kurtzke and Boris Kuzeljevic and Annie Yu and Melissa Hudson and Amy J.M. McNaughton and Yuchen Xu and Alexandre Dionne-Laporte and Simon Girard and Ping Liang and Evica Rajcan Separovic and Xudong Liu and Guy Rouleau and Paul Pavlidis and M.E. Suzanne Lewis
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2019

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging
American Journal of Human Genetics
Flex, E. and Martinelli, S. and Van Dijck, A. and Ciolfi, A. and Cecchetti, S. and Coluzzi, E. and Pannone, L. and Andreoli, C. and Radio, F.C. and Pizzi, S. and Carpentieri, G. and Bruselles, A. and Catanzaro, G. and Pedace, L. and Miele, E. and Carcarino, E. and Ge, X. and Chijiwa, C. and Lewis, M.E.S. and Meuwissen, M. and Kenis, S. and Van der Aa, N. and Larson, A. and Brown, K. and Wasserstein, M.P. and Skotko, B.G. and Begtrup, A. and Person, R. and Karayiorgou, M. and Roos, J.L. and Van Gassen, K.L. and Koopmans, M. and Bijlsma, E.K. and Santen, G.W.E. and Barge-Schaapveld, D.Q.C.M. and Ruivenkamp, C.A.L. and Hoffer, M.J.V. and Lalani, S.R. and Streff, H. and Craigen, W.J. and Graham, B.H. and van den Elzen, A.P.M. and Kamphuis, D.J. and Õunap, K. and Reinson, K. and Pajusalu, S. and Wojcik, M.H. and Viberti, C. and Di Gaetano, C. and Bertini, E. and Petrucci, S. and De Luca, A. and Rota, R. and Ferretti, E. and Matullo, G. and Dallapiccola, B. and Sgura, A. and Walkiewicz, M. and Kooy, R.F. and Tartaglia, M.
DOI: 10.1016/j.ajhg.2019.07.007
2019

A genome-wide DNA methylation signature for SETD1B-related syndrome
Clinical Epigenetics
Krzyzewska, I.M. and Maas, S.M. and Henneman, P. and Lip, K.V.D. and Venema, A. and Baranano, K. and Chassevent, A. and Aref-Eshghi, E. and Van Essen, A.J. and Fukuda, T. and Ikeda, H. and Jacquemont, M. and Kim, H.-G. and Labalme, A. and Lewis, S.M.E. and Lesca, G. and Madrigal, I. and Mahida, S. and Matsumoto, N. and Rabionet, R. and Rajcan-Separovic, E. and Qiao, Y. and Sadikovic, B. and Saitsu, H. and Sweetser, D.A. and Alders, M. and Mannens, M.M.A.M.
DOI: 10.1186/s13148-019-0749-3
2019

Whole genome sequencing and variant discovery in the ASPIRE autism spectrum disorder cohort
Clinical Genetics
Callaghan, D.B. and Rogic, S. and Tan, P.P.C. and Calli, K. and Qiao, Y. and Baldwin, R. and Jacobson, M. and Belmadani, M. and Holmes, N. and Yu, C. and Li, Y. and Li, Y. and Kurtzke, F.-E. and Kuzeljevic, B. and Yu, A.Y. and Hudson, M. and Mcaughton, A.J.M. and Xu, Y. and Dionne-Laporte, A. and Girard, S. and Liang, P. and Separovic, E.R. and Liu, X. and Rouleau, G. and Pavlidis, P. and Lewis, M.E.S.
DOI: 10.1111/cge.13556
2019

RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit—successes and challenges
European Journal of Pediatrics
Elliott, A.M. and du Souich, C. and Lehman, A. and Guella, I. and Evans, D.M. and Candido, T. and Tooman, L. and Armstrong, L. and Clarke, L. and Gibson, W. and Gill, H. and Lavoie, P.M. and Lewis, S. and McKinnon, M.L. and Nikkel, S.M. and Patel, M. and Solimano, A. and Synnes, A. and Ting, J. and van Allen, M. and Christilaw, J. and Farrer, M.J. and Friedman, J.M. and Osiovich, H.
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2019

Exome sequencing identified a de novo mutation of PURA gene in a patient with familial Xp22.31 microduplication
European Journal of Medical Genetics
Qiao, Y. and Bagheri, H. and Tang, F. and Badduke, C. and Martell, S. and Lewis, S.M.E. and Robinson, W. and Connolly, M.B. and Arbour, L. and Rajcan-Separovic, E.
DOI: 10.1016/j.ejmg.2018.06.010
2019

Blood Mitochondrial DNA Content in HIV-Exposed Uninfected Children with Autism Spectrum Disorder
Viruses
DOI: 10.3390/v10020077
02/2018

Genome plasticity of agr-defective staphylococcus aureus during clinical infection
Infection and Immunity
Altman, D.R. and Sullivan, M.J. and Chacko, K.I. and Balasubramanian, D. and Pak, T.R. and Sause, W.E. and Kumar, K. and Sebra, R. and Deikus, G. and Attie, O. and Rose, H. and Lewis, M. and Fulmer, Y. and Bashir, A. and Kasarskis, A. and Schadt, E.E. and Richardson, A.R. and Torres, V.J. and Shopsin, B. and Van Bakel, H.
DOI: 10.1128/IAI.00331-18
2018

Whole exome sequencing of families with 1q21.1 microdeletion or microduplication
American Journal of Medical Genetics, Part A
Qiao, Y. and Badduke, C. and Tang, F. and Cowieson, D. and Martell, S. and Lewis, S.M.E. and Peñaherrera, M.S. and Robinson, W.P. and Volchuk, A. and Rajcan-Separovic, E.
DOI: 10.1002/ajmg.a.38247
2017

Genomic confirmation of vancomycinresistant Enterococcus transmission from deceased donor to liver transplant recipient
PLoS ONE
Bashir, A. and Attie, O. and Sullivan, M. and Sebra, R. and Singh, K.V. and Altman, D. and Pak, T. and Dutta, J. and Chacko, K. and Webster, E. and Lewis, M. and Hamula, C. and Carpini, K.W.D. and Murray, B.E. and Kasarskis, A. and Van Bakel, H. and Huprikar, S.
DOI: 10.1371/journal.pone.0170449
2017

The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families
Genetics in Medicine
Fountain, M.D. and Aten, E. and Cho, M.T. and Juusola, J. and Walkiewicz, M.A. and Ray, J.W. and Xia, F. and Yang, Y. and Graham, B.H. and Bacino, C.A. and Potocki, L. and Van Haeringen, A. and Ruivenkamp, C.A.L. and Mancias, P. and Northrup, H. and Kukolich, M.K. and Weiss, M.M. and Van Ravenswaaij-Arts, C.M.A. and Mathijssen, I.B. and Levesque, S. and Meeks, N. and Rosenfeld, J.A. and Lemke, D. and Hamosh, A. and Lewis, S.K. and Race, S. and Stewart, L.L. and Hay, B. and Lewis, A.M. and Guerreiro, R.L. and Bras, J.T. and Martins, M.P. and Derksen-Lubsen, G. and Peeters, E. and Stumpel, C. and Stegmann, S. and Bok, L.A. and Santen, G.W.E. and Schaaf, C.P.
DOI: 10.1038/gim.2016.53
2017

Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy
Brain
Zaharieva, I.T. and Thor, M.G. and Oates, E.C. and Van Karnebeek, C. and Hendson, G. and Blom, E. and Witting, N. and Rasmussen, M. and Gabbett, M.T. and Ravenscroft, G. and Sframeli, M. and Suetterlin, K. and Sarkozy, A. and D'Argenzio, L. and Hartley, L. and Matthews, E. and Pitt, M. and Vissing, J. and Ballegaard, M. and Krarup, C. and Sl?rdahl, A. and Halvorsen, H. and Ye, X.C. and Zhang, L.-H. and L?kken, N. and Werlauff, U. and Abdelsayed, M. and Davis, M.R. and Feng, L. and Phadke, R. and Sewry, C.A. and Morgan, J.E. and Laing, N.G. and Vallance, H. and Ruben, P. and Hanna, M.G. and Lewis, S. and Kamsteeg, E.-J. and Männikkö, R. and Muntoni, F.
DOI: 10.1093/brain/awv352
2016

Interactive Exploration, Analysis, and Visualization of Complex Phenome–Genome Datasets with ASPIREdb
Human Mutation
Tan, P.P.C. and Rogic, S. and Zoubarev, A. and McDonald, C. and Lui, F. and Charathsandran, G. and Jacobson, M. and Belmadani, M. and Leong, J. and Van Rossum, T. and Portales-Casamar, E. and Qiao, Y. and Calli, K. and Liu, X. and Hudson, M. and Rajcan-Separovic, E. and Lewis, M.E.S. and Pavlidis, P.
DOI: 10.1002/humu.23011
2016

Exome sequencing identifies pathogenic variants of VPS13B in a patient with familial 16p11.2 duplication
BMC Medical Genetics
Dastan, J. and Chijiwa, C. and Tang, F. and Martell, S. and Qiao, Y. and Rajcan-Separovic, E. and Lewis, M.E.S.
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2016

Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro
Human Mutation
Cohen, A.S.A. and Yap, D.B. and Lewis, M.E.S. and Chijiwa, C. and Ramos-Arroyo, M.A. and Tkachenko, N. and Milano, V. and Fradin, M. and Mckinnon, M.L. and Townsend, K.N. and Xu, J. and Van Allen, M.I. and Ross, C.J.D. and Dobyns, W.B. and Weaver, D.D. and Gibson, W.T.
DOI: 10.1002/humu.22946
2016

Defining the effect of the 16p11.2 duplication on cognition, behavior, and medical comorbidities
JAMA Psychiatry
D'Angelo, D. and Lebon, S. and Chen, Q. and Martin-Brevet, S. and Snyder, L.G. and Hippolyte, L. and Hanson, E. and Maillard, A.M. and Faucett, W.A. and Macé, A. and Pain, A. and Bernier, R. and Chawner, S.J.R.A. and David, A. and Andrieux, J. and Aylward, E. and Baujat, G. and Caldeira, I. and Conus, P. and Ferrari, C. and Forzano, F. and Gérard, M. and Goin-Kochel, R.P. and Grant, E. and Hunter, J.V. and Isidor, B. and Jacquette, A. and J?nch, A.E. and Keren, B. and Lacombe, D. and Le Caignec, C. and Martin, C.L. and Männik, K. and Metspalu, A. and Mignot, C. and Mukherjee, P. and Owen, M.J. and Passeggeri, M. and Rooryck-Thambo, C. and Rosenfeld, J.A. and Spence, S.J. and Steinman, K.J. and Tjernagel, J. and Van Haelst, M. and Shen, Y. and Draganski, B. and Sherr, E.H. and Ledbetter, D.H. and van den Bree, M.B.M. and Beckmann, J.S. and Spiro, J.E. and Reymond, A. and Jacquemont, S. and Chung, W.K. and Knoers, N.V.A.M. and Martinet, D. and Belfiore, M. and Cuvellier, J.-C. and deVries, B. and Delrue, M.-A. and Doco-Fenzy, M. and Lebel, R. and Leheup, B. and Lewis, S. and Mencarelli, M.A. and Minet, J.-C. and Vincent-Delorme, C. and Moerman, A. and Mucciolo, M. and Ounap, K. and Rajcan-Separovic, E. and Renieri, A. and Sanlaville, D. and Faas, B.H. and Koolen, D.A. and Vulto-Van Silfhout, A. and de Leeuw, N. and Rosanfeld, J.A. and Filges, I. and Achatz, E. and Roetzer, K.M. and Bonneau, D. and Guichet, A. and Lazaro, L. and Plessis, G. and Kroisel, P.M. and Reis, A. and Jonveaux, P. and Chantot-Bastaraud, S. and Rauch, A. and Demeer, B. and Nordgren, A. and Labalme, A. and Ferrarini, A. and Ramelli, G.P. and Guilmatre, A. and Joly-Helas, G. and Haize, S. and Layet, V. and Le Gallic, S. and de Fréminville, B. and Touraine, R. and Van Binsbergen, E. and Mathieu-Dramard, M. and Barth, M. and Blaumeiser, B. and Masurel, A. and Cailler, P. and Olivier-Faivre, L. and Malacarne, M. and Coutton, C. and Dieterich, K. and Satre, V. and Wallgren-Pettersson, C. and Tensgrom, C. and Kaksonen, S. and Duban-Bedu, B. and Holder, M. and Rossi, M. and Gaillard, D. and Bock, D. and Bednarek, N. and Guillin, O. and Bizzarri, V. and Flori, E. and Silengo, M. and Kooy, R.F. and Aboura, A. and Beri, M. and Delobel, B. and Drunat, S. and Jaros, Z. and Kolk, A. and Reigo, A. and Zufferey, F. and Beckmann, N. and Faravelli, F. and Alupay, H. and Aaronson, B. and Ackerman, S. and Ankenman, K. and Anwar, A. and Atwell, C. and Bowe, A. and Beaudet, A.L. and Benedetti, M. and Berg, J. and Berman, J. and Berry, L.N. and Bibb, A.L. and Blaskey, L. and Brennan, J. and Brewton, C.M. and Buckner, R. and Bukshpun, P. and Burko, J. and Cali, P. and Cerban, B. and Chang, Y. and Cheong, M. and Chow, V. and Chu, Z. and Chudnovskaya, D. and Cornew, L. and Dale, C. and Dell, J. and Dempsey, A.G. and Deschamps, T. and Earl, R. and Edgar, J. and Elgin, J. and Endre, J. and Evans, Y.L. and Findlay, A. and Fischbach, G.D. and Fisk, C. and Fregeau, B. and Gaetz, B. and Gaetz, L. and Garza, S. and Gerdts, J. and Glenn, O. and Gobuty, S.E. and Golembski, R. and Greenup, M. and Heiken, K. and Hines, K. and Hinkley, L. and Jackson, F.I. and Jenkins, J. and Jeremy, R.J. and Johnson, K. and Kanne, S.M. and Kessler, S. and Khan, S.Y. and Ku, M. and Kuschner, E. and Laakman, A.L. and Lam, P. and Lasala, M.W. and Lee, H. and La, K. and Levy, S. and Lian, A. and Llorens, A.V. and Loftus, K. and Luks, T.L. and Marco, E.J. and Martin, S. and Martin, A.J. and Marzano, G. and Masson, C. and McGovern, K.E. and Keehn, R.M. and Miller, D.T. and Miller, F.K. and Moss, T.J. and Murray, R. and Nagarajan, S.S. and Nowell, K.P. and Owen, J. and Paal, A.M. and Packer, A. and Page, P.Z. and Paul, B.M. and Peters, A. and Peterson, D. and Poduri, A. and Pojman, N.J. and Porche, K. and Proud, M.B. and Qasmieh, S. and Ramocki, M.B. and Reilly, B. and Roberts, T.P.L. and Shaw, D. and Sinha, T. and Smith, B. and Snow, A. and Swarnakar, V. and Thieu, T. and Triantafallou, C. and Vaughan, R. and Wakahiro, M. and Wallace, A. and Ward, T. and Wenegrat, J. and Wolken, A.
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2016

Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis
JCI Insight
Bagheri, H. and Badduke, C. and Qiao, Y. and Colnaghi, R. and Abramowicz, I. and Alcantara, D. and Dunham, C. and Wen, J. and Wildin, R.S. and Nowaczyk, M.J.M. and Eichmeyer, J. and Lehman, A. and Maranda, B. and Martell, S. and Shan, X. and Lewis, S.M.E. and O?Driscoll, M. and Gregory-Evans, C.Y. and Rajcan-Separovic, E.
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2016

Exome sequencing and the management of neurometabolic disorders
New England Journal of Medicine
Tarailo-Graovac, M. and Shyr, C. and Ross, C.J. and Horvath, G.A. and Salvarinova, R. and Ye, X.C. and Zhang, L.-H. and Bhavsar, A.P. and Lee, J.J.Y. and Drögemöller, B.I. and Abdelsayed, M. and Alfadhel, M. and Armstrong, L. and Baumgartner, M.R. and Burda, P. and Connolly, M.B. and Cameron, J. and Demos, M. and Dewan, T. and Dionne, J. and Evans, A.M. and Friedman, J.M. and Garber, I. and Lewis, S. and Ling, J. and Mandal, R. and Mattman, A. and McKinnon, M. and Michoulas, A. and Metzger, D. and Ogunbayo, O.A. and Rakic, B. and Rozmus, J. and Ruben, P. and Sayson, B. and Santra, S. and Schultz, K.R. and Selby, K. and Shekel, P. and Sirrs, S. and Skrypnyk, C. and Superti-Furga, A. and Turvey, S.E. and Van Allen, M.I. and Wishart, D. and Wu, J. and Wu, J. and Zafeiriou, D. and Kluijtmans, L. and Wevers, R.A. and Eydoux, P. and Lehman, A.M. and Vallance, H. and Stockler-Ipsiroglu, S. and Sinclair, G. and Wasserman, W.W. and Van Karnebeek, C.D.
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2016

Functional consequences of copy number variants in miscarriage
Molecular Cytogenetics
Wen, J. and Hanna, C.W. and Martell, S. and Leung, P.C.K. and Lewis, S.M.E. and Robinson, W.P. and Stephenson, M.D. and Rajcan-Separovic, E.
DOI: 10.1186/s13039-015-0109-8
2015

Whole-genome sequencing identifies emergence of a quinolone resistance mutation in a case of stenotrophomonas maltophilia bacteremia
Antimicrobial Agents and Chemotherapy
Pak, T.R. and Altman, D.R. and Attie, O. and Sebra, R. and Hamula, C.L. and Lewis, M. and Deikus, G. and Newman, L.C. and Fang, G. and Hand, J. and Patel, G. and Wallach, F. and Schadt, E.E. and Huprikar, S. and Van Bakel, H. and Kasarskis, A. and Bashir, A.
DOI: 10.1128/AAC.01723-15
2015

Copy number variants (CNVs) analysis in a deeply phenotyped cohort of individuals with intellectual disability (ID)
BMC Medical Genetics
Qiao, Y. and Mercier, E. and Dastan, J. and Hurlburt, J. and McGillivray, B. and Chudley, A.E. and Farrell, S. and Bernier, F.P. and Lewis, M.E.S. and Pavlidis, P. and Rajcan-Separovic, E.
DOI: 10.1186/1471-2350-15-82
2014

Variant ATRX Syndrome with Dysfunction of ATRX and MAGT1 Genes
Human Mutation
Qiao, Y. and Mondal, K. and Trapani, V. and Wen, J. and Carpenter, G. and Wildin, R. and Price, E.M. and Gibbons, R.J. and Eichmeyer, J. and Jiang, R. and Dupont, B. and Martell, S. and Lewis, S.M.E. and Robinson, W.P. and O'Driscoll, M. and Wolf, F.I. and Zwick, M.E. and Rajcan-Separovic, E.
DOI: 10.1002/humu.22465
2014

Opposite effects on facial morphology due to gene dosage sensitivity
Human Genetics
Hammond, P. and McKee, S. and Suttie, M. and Allanson, J. and Cobben, J.-M. and Maas, S.M. and Quarrell, O. and Smith, A.C.M. and Lewis, S. and Tassabehji, M. and Sisodiya, S. and Mattina, T. and Hennekam, R.
DOI: 10.1007/s00439-014-1455-z
2014

The changing prevalence of autism in three regions of Canada
Journal of Autism and Developmental Disorders
Ouellette-Kuntz, H. and Coo, H. and Lam, M. and Breitenbach, M.M. and Hennessey, P.E. and Jackman, P.D. and Lewis, M.E.S. and Dewey, D. and Bernier, F.P. and Chung, A.M.
DOI: 10.1007/s10803-013-1856-1
2014

Clinical application of 2.7M Cytogenetics array for CNV detection in subjects with idiopathic autism and/or intellectual disability
Clinical Genetics
Qiao, Y. and Tyson, C. and Hrynchak, M. and Lopez-Rangel, E. and Hildebrand, J. and Martell, S. and Fawcett, C. and Kasmara, L. and Calli, K. and Harvard, C. and Liu, X. and Holden, J.J.A. and Lewis, S.M.E. and Rajcan-Separovic, E.
DOI: 10.1111/j.1399-0004.2012.01860.x
2013

Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2
Orphanet Journal of Rare Diseases
Wen, J. and Lopes, F. and Soares, G. and Farrell, S.A. and Nelson, C. and Qiao, Y. and Martell, S. and Badukke, C. and Bessa, C. and Ylstra, B. and Lewis, S. and Isoherranen, N. and Maciel, P. and Rajcan-Separovic, E.
DOI: 10.1186/1750-1172-8-100
2013

MiRNA and miRNA target genes in copy number variations occurring in individuals with intellectual disability
BMC Genomics
Qiao, Y. and Badduke, C. and Mercier, E. and Lewis, S.M.E. and Pavlidis, P. and Rajcan-Separovic, E.
DOI: 10.1186/1471-2164-14-544
2013

Genotype-phenotype analysis of 18q12.1-q12.2 copy number variation in autism
European Journal of Medical Genetics
DOI: 10.1016/j.ejmg.2013.05.006
2013

National Epidemiologic Database for the study of Autism in Canada (NEDSAC)
Chronic Diseases and Injuries in Canada
Ouellette-Kuntz, H. and Coo, H. and Yu, C.T. and Lewis, M.E. and Dewey, D. and Hennessey, P.E. and Jackman, P.D. and Breitenbach, M.M. and Holden, J.J.
2012

DRD2 and PPP1R1B (DARPP-32) polymorphisms independently confer increased risk for autism spectrum disorders and additively predict affected status in male-only affected sib-pair families
Behavioral and Brain Functions
Hettinger, J.A. and Liu, X. and Hudson, M.L. and Lee, A. and Cohen, I.L. and Michaelis, R.C. and Schwartz, C.E. and Lewis, S.M.E. and Holden, J.J.A.
DOI: 10.1186/1744-9081-8-19
2012

Correlates of age at diagnosis of autism spectrum disorders in six Canadian regions
Chronic Diseases and Injuries in Canada
Coo, H. and Ouellette-Kuntz, H. and Lam, M. and Yu, C.T. and Dewey, D. and Bernier, F.P. and Chudley, A.E. and Hennessey, P.E. and Breitenbach, M.M. and Noonan, A.L. and Lewis, M.E. and Holden, J.J.
2012

Association of GTF2i in the Williams-Beuren Syndrome critical region with autism spectrum disorders
Journal of Autism and Developmental Disorders
Malenfant, P. and Liu, X. and Hudson, M.L. and Qiao, Y. and Hrynchak, M. and Riendeau, N. and Hildebrand, M.J. and Cohen, I.L. and Chudley, A.E. and Forster-Gibson, C. and Mickelson, E.C.R. and Rajcan-Separovic, E. and Lewis, M.E.S. and Holden, J.J.A.
DOI: 10.1007/s10803-011-1389-4
2012

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders
Journal of Medical Genetics
Zufferey, F. and Sherr, E.H. and Beckmann, N.D. and Hanson, E. and Maillard, A.M. and Hippolyte, L. and Macé, A. and Ferrari, C. and Kutalik, Z. and Andrieux, J. and Aylward, E. and Barker, M. and Bernier, R. and Bouquillon, S. and Conus, P. and Delobel, B. and Faucett, W.A. and Goin-Kochel, R.P. and Grant, E. and Harewood, L. and Hunter, J.V. and Lebon, S. and Ledbetter, D.H. and Martin, C.L. and Männik, K. and Martinet, D. and Mukherjee, P. and Ramocki, M.B. and Spence, S.J. and Steinman, K.J. and Tjernage, J. and Spiro, J.E. and Reymond, A. and Beckmann, J.S. and Chung, W.K. and Jacquemont, S. and Addor, M.C. and Arveiler, B. and Belfiore, M. and Bena, F. and Bernardini, L. and Blanchet, P. and Bonneau, D. and Boute, O. and Callier, P. and Campion, D. and Chiesa, J. and Cordier, M.P. and Cuisset, J.M. and David, A. and De Leeuw, N. and De Vries, B. and Didelot, G. and Doco-Fenzy, M. and Bedu, B.D. and Dubourg, C. and Dupuis-Girod, S. and Fagerberg, C.R. and Faivre, L. and Fellmann, F. and Fernandez, B.A. and Fisher, R. and Flori, E. and Goldenberg, A. and Heron, D. and Holder, M. and Hoyer, J. and Isidor, B. and Jaillard, S. and Jonveaux, P. and Joriot, S. and Journel, H. and Kooy, F. and le Caignec, C. and Leheup, B. and Lemaitre, M.-P. and Lewis, S. and Malan, V. and Mathieu-Dramard, M. and Metspalu, A. and Morice-Picard, F. and Mucciolo, M. and Oiglane-Shlik, E. and Ounap, K. and Pasquier, L. and Petit, F. and Philippe, A. and Plessis, G. and Prieur, F. and Puechberty, J. and Rajcan-Separovic, E. and Rauch, A. and Renieri, A. and Rieubland, C. and Rooryck, C. and Rötzer, K.M. and Ruiter, M. and Sanlaville, D. and Selmoni, S. and Shen, Y. and Siffredi, V. and Thonney, J. and Vallée, L. and Van Binsbergen, E. and Van der Aa, N. and Van Haelst, M.M. and Vigneron, J. and Vincent-Delorme, C. and Vittoria, D. and Vulto-Van Silfhout, A.T. and Witwicki, R.M. and Zwolinski, S.A. and Bowe, A. and Beaudet, A.L. and Brewton, C.M. and Chu, Z. and Dempsey, A.G. and Evans, Y.L. and Garza, S. and Kanne, S.M. and Laakman, A.L. and Lasala, M.W. and Llorens, A.V. and Marzano, G. and Moss, T.J. and Nowell, K.P. and Proud, M.B. and Chen, Q. and Vaughan, R. and Berman, J. and Blaskey, L. and Hines, K. and Kessler, S. and Khan, S.Y. and Qasmieh, S. and Bibb, A.L. and Paal, A.M. and Page, P.Z. and Smith-Packard, B. and Buckner, R. and Burko, J. and Cavanagh, A.L. and Cerban, B. and Snow, A.V. and Snyder, L.G. and Keehn, R.M. and Miller, D.T. and Miller, F.K. and Olson, J.E. and Triantafallou, C. and Visyak, N. and Atwell, C. and Benedetti, M. and Fischbach, G.D. and Greenup, M. and Packer, A. and Bukshpun, P. and Cheong, M. and Dale, C. and Gobuty, S.E. and Hinkley, L. and Jeremy, R.J. and Lee, H. and Luks, T.L. and Marco, E.J. and Martin, A.J. and McGovern, K.E. and Nagarajan, S.S. and Owen, J. and Paul, B.M. and Pojman, N.J. and Sinha, T. and Swarnakar, V. and Wakahiro, M. and Alupay, H. and Aaronson, B. and Ackerman, S. and Ankenman, K. and Elgin, J. and Gerdts, J. and Johnson, K. and Reilly, B. and Shaw, D. and Stevens, A. and Ward, T. and Wenegrat, J. and Roberts, T.P.L.
DOI: 10.1136/jmedgenet-2012-101203
2012

2p15-p16.1 microdeletion syndrome: Molecular characterization and association of the OTX1 and XPO1 genes with autism spectrum disorders
European Journal of Human Genetics
Liu, X. and Malenfant, P. and Reesor, C. and Lee, A. and Hudson, M.L. and Harvard, C. and Qiao, Y. and Persico, A.M. and Cohen, I.L. and Chudley, A.E. and Forster-Gibson, C. and Rajcan-Separovic, E. and Lewis, M.S. and Holden, J.J.A.
DOI: 10.1038/ejhg.2011.112
2011

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus
Nature
Jacquemont, S. and Reymond, A. and Zufferey, F. and Harewood, L. and Walters, R.G. and Kutalik, Z. and Martinet, D. and Shen, Y. and Valsesia, A. and Beckmann, N.D. and Thorleifsson, G. and Belfiore, M. and Bouquillon, S. and Campion, D. and De Leeuw, N. and De Vries, B.B.A. and Esko, T. and Fernandez, B.A. and Fernández-Aranda, F. and Fernández-Real, J.M. and Gratacós, M. and Guilmatre, A. and Hoyer, J. and Jarvelin, M.-R. and Frank Kooy, R. and Kurg, A. and Le Caignec, C. and Männik, K. and Platt, O.S. and Sanlaville, D. and Van Haelst, M.M. and Villatoro Gomez, S. and Walha, F. and Wu, B.-L. and Yu, Y. and Aboura, A. and Addor, M.-C. and Alembik, Y. and Antonarakis, S.E. and Arveiler, B. and Barth, M. and Bednarek, N. and Béna, F. and Bergmann, S. and Beri, M. and Bernardini, L. and Blaumeiser, B. and Bonneau, D. and Bottani, A. and Boute, O. and Brunner, H.G. and Cailley, D. and Callier, P. and Chiesa, J. and Chrast, J. and Coin, L. and Coutton, C. and Cuisset, J.-M. and Cuvellier, J.-C. and David, A. and De Freminville, B. and Delobel, B. and Delrue, M.-A. and Demeer, B. and Descamps, D. and Didelot, G. and Dieterich, K. and Disciglio, V. and Doco-Fenzy, M. and Drunat, S. and Duban-Bedu, B. and Dubourg, C. and El-Sayed Moustafa, J.S. and Elliott, P. and Faas, B.H.W. and Faivre, L. and Faudet, A. and Fellmann, F. and Ferrarini, A. and Fisher, R. and Flori, E. and Forer, L. and Gaillard, D. and Gerard, M. and Gieger, C. and Gimelli, S. and Gimelli, G. and Grabe, H.J. and Guichet, A. and Guillin, O. and Hartikainen, A.-L. and Heron, D. and Hippolyte, L. and Holder, M. and Homuth, G. and Isidor, B. and Jaillard, S. and Jaros, Z. and Jiménez, S. and Joly Helas, G. and Jonveaux, P. and Kaksonen, S. and Keren, B. and Kloss-Brandstätter, A. and Knoers, N.V.A.M. and Koolen, D.A. and Kroisel, P.M. and Kronenberg, F. and Labalme, A. and Landais, E. and Lapi, E. and Layet, V. and Legallic, S. and Leheup, B. and Leube, B. and Lewis, S. and Lucas, J. and MacDermot, K.D. and Magnusson, P. and Marshall, C. and Mathieu-Dramard, M. and McCarthy, M.I. and Meitinger, T. and Antonietta Mencarelli, M. and Merla, G. and Moerman, A. and Mooser, V. and Morice-Picard, F. and Mucciolo, M. and Nauck, M. and Coumba Ndiaye, N. and Nordgren, A. and Pasquier, L. and Petit, F. and Pfundt, R. and Plessis, G. and Rajcan-Separovic, E. and Paolo Ramelli, G. and Rauch, A. and Ravazzolo, R. and Reis, A. and Renieri, A. and Richart, C. and Ried, J.S. and Rieubland, C. and Roberts, W. and Roetzer, K.M. and Rooryck, C. and Rossi, M. and Saemundsen, E. and Satre, V. and Schurmann, C. and Sigurdsson, E. and Stavropoulos, D.J. and Stefansson, H. and Tengström, C. and Thorsteinsdóttir, U. and Tinahones, F.J. and Touraine, R. and Vallée, L. and Van Binsbergen, E. and Van Der Aa, N. and Vincent-Delorme, C. and Visvikis-Siest, S. and Vollenweider, P. and Völzke, H. and Vulto-Van Silfhout, A.T. and Waeber, G. and Wallgren-Pettersson, C. and Witwicki, R.M. and Zwolinksi, S. and Andrieux, J. and Estivill, X. and Gusella, J.F. and Gustafsson, O. and Metspalu, A. and Scherer, S.W. and Stefansson, K. and Blakemore, A.I.F. and Beckmann, J.S. and Froguel, P.
DOI: 10.1038/nature10406
2011

Autism severity is associated with child and maternal MAOA genotypes
Clinical Genetics
Cohen, I.L. and Liu, X. and Lewis, M.E.S. and Chudley, A. and Forster-Gibson, C. and Gonzalez, M. and Jenkins, E.C. and Brown, W. and Holden, J.J.A.
DOI: 10.1111/j.1399-0004.2010.01471.x
2011

Understanding the impact of 1q21.1 copy number variant
Orphanet Journal of Rare Diseases
Harvard, C. and Strong, E. and Mercier, E. and Colnaghi, R. and Alcantara, D. and Chow, E. and Martell, S. and Tyson, C. and Hrynchak, M. and McGillivray, B. and Hamilton, S. and Marles, S. and Mhanni, A. and Dawson, A.J. and Pavlidis, P. and Qiao, Y. and Holden, J.J. and Lewis, S.M.E. and O'Driscoll, M. and Rajcan-Separovic, E.
DOI: 10.1186/1750-1172-6-54
2011

Population- and family-based studies associate the MTHFR gene with idiopathic autism in simplex families
Journal of Autism and Developmental Disorders
Liu, X. and Solehdin, F. and Cohen, I.L. and Gonzalez, M.G. and Jenkins, E.C. and Lewis, M.E.S. and Holden, J.J.A.
DOI: 10.1007/s10803-010-1120-x
2011

Disruption at the PTCHD1 locus on Xp22.11 in autism spectrum disorder and intellectual disability
Science Translational Medicine
Noor, A. and Whibley, A. and Marshall, C.R. and Gianakopoulos, P.J. and Piton, A. and Carson, A.R. and Orlic-Milacic, M. and Lionel, A.C. and Sato, D. and Pinto, D. and Drmic, I. and Noakes, C. and Senman, L. and Zhang, X. and Mo, R. and Gauthier, J. and Crosbie, J. and Pagnamenta, A.T. and Munson, J. and Estes, A.M. and Fiebig, A. and Franke, A. and Schreiber, S. and Stewart, A.F.R. and Roberts, R. and McPherson, R. and Guter, S.J. and Cook Jr., E.H. and Dawson, G. and Schellenberg, G.D. and Battaglia, A. and Maestrini, E. and Jeng, L. and Hutchison, T. and Rajcan-Separovic, E. and Chudley, A.E. and Lewis, S.M.E. and Liu, X. and Holden, J.J. and Fernandez, B. and Zwaigenbaum, L. and Bryson, S.E. and Roberts, W. and Szatmari, P. and Gallagher, L. and Stratton, M.R. and Gecz, J. and Brady, A.F. and Schwartz, C.E. and Schachar, R.J. and Monaco, A.P. and Rouleau, G.A. and Hui, C.-C. and Raymond, F.L. and Scherer, S.W. and Vincent, J.B.
DOI: 10.1126/scitranslmed.3001267
2010

Outcome of array CGH analysis for 255 subjects with intellectual disability and search for candidate genes using bioinformatics
Human Genetics
Qiao, Y. and Harvard, C. and Tyson, C. and Liu, X. and Fawcett, C. and Pavlidis, P. and Holden, J.J.A. and Lewis, M.E.S. and Rajcan-Separovic, E.
DOI: 10.1007/s00439-010-0837-0
2010

The DLX1and DLX2 genes and susceptibility to autism spectrum disorders
European Journal of Human Genetics
Liu, X. and Novosedlik, N. and Wang, A. and Hudson, M.L. and Cohen, I.L. and Chudley, A.E. and Forster-Gibson, C.J. and Lewis, S.M.E. and Holden, J.J.A.
DOI: 10.1038/ejhg.2008.148
2009

Putatively benign copy number variants in subjects with idiopathic autism spectrum disorder and/or intellectual disability
Cytogenetic and Genome Research
Qiao, Y. and Harvard, C. and Riendeau, N. and Fawcett, C. and Liu, X. and Holden, J.J.A. and Lewis, M.E.S. and Rajcan-Separovic, E.
DOI: 10.1159/000184694
2009

Phenomic determinants of genomic variation in autism spectrum disorders
Journal of Medical Genetics
Qiao, Y. and Riendeau, N. and Koochek, M. and Liu, X. and Harvard, C. and Hildebrand, M.J. and Holden, J.J.A. and Rajcan-Separovic, E. and Lewis, M.E.S.
DOI: 10.1136/jmg.2009.066795
2009

Trends in autism prevalence: Diagnostic substitution revisited
Journal of Autism and Developmental Disorders
Coo, H. and Ouellette-Kuntz, H. and Lloyd, J.E.V. and Kasmara, L. and Holden, J.J.A. and Lewis, M.E.S.
DOI: 10.1007/s10803-007-0478-x
2008

Face-brain asymmetry in autism spectrum disorders
Molecular Psychiatry
Hammond, P. and Forster-Gibson, C. and Chudley, A.E. and Allanson, J.E. and Hutton, T.J. and Farrell, S.A. and McKenzie, J. and Holden, J.J.A. and Lewis, M.E.S.
DOI: 10.1038/mp.2008.18
2008

Autism-associated familial microdeletion of Xp11.22
Clinical Genetics
Qiao, Y. and Liu, X. and Harvard, C. and Hildebrand, M.J. and Rajcan-Separovic, E. and Holden, J.J.A. and Lewis, M.E.S.
DOI: 10.1111/j.1399-0004.2008.01028.x
2008

The value of a genetic diagnosis for individuals with intellectual disabilities: Optimising healthcare and function across the lifespan
British Journal of Developmental Disabilities
Lopez-Rangel, E. and Mickelson, E.C.R. and Lewis, M.E.S.
DOI: 10.1179/096979508799103215
2008

Phenotype-genotype characterization of alpha-thalassemia mental retardation syndrome due to isolated monosomy of 16p13.3
American Journal of Medical Genetics, Part A
Gibson, W.T. and Harvard, C. and Qiao, Y. and Somerville, M.J. and Lewis, M.E.S. and Rajcan-Separovic, E.
DOI: 10.1002/ajmg.a.32056
2008

Large-scale copy number variants (CNVs): Distribution in normal subjects and FISH/real-time qPCR analysis
BMC Genomics
Qiao, Y. and Liu, X. and Harvard, C. and Nolin, S.L. and Brown, W.T. and Koochek, M. and Holden, J.J.A. and Lewis, M.E.S. and Rajcan-Separovic, E.
DOI: 10.1186/1471-2164-8-167
2007

Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1
Journal of Medical Genetics
Rajcan-Separovic, E. and Harvard, C. and Liu, X. and McGillivray, B. and Hall, J.G. and Qiao, Y. and Hurlburt, J. and Hildebrand, J. and Mickelson, E.C.R. and Holden, J.J.A. and Lewis, M.E.S.
DOI: 10.1136/jmg.2006.045013
2007

Trends in special education code assignment for autism: Implications for prevalence estimates
Journal of Autism and Developmental Disorders
Ouellette-Kuntz, H. and Coo, H. and Lloyd, J.E.V. and Kasmara, L. and Holden, J.J.A. and Lewis, M.E.S.
DOI: 10.1007/s10803-006-0326-4
2007

Parental perspectives on the causes of an autism spectrum disorder in their children
Journal of Genetic Counseling
Mercer, L. and Creighton, S. and Holden, J.J.A. and Lewis, M.E.S.
DOI: 10.1007/s10897-005-9002-7
2006

15q duplication associated with autism in a multiplex family with a familial cryptic translocation t(14;15)(q11.2;q13.3) detected using array-CGH
Clinical Genetics
Koochek, M. and Harvard, C. and Hildebrand, M.J. and Van Allen, M. and Wingert, H. and Mickelson, E. and Holden, J.J.A. and Rajcan-Separovic, E. and Lewis, M.E.S.
DOI: 10.1111/j.1399-0004.2005.00560.x
2006

Loud and clear evidence for gene silencing by epigenetic mechanisms in autism spectrum and related neurodevelopmental disorders
Clinical Genetics
Lopez-Rangel, E. and Lewis, M.E.S.
DOI: 10.1111/j.1399-0004.2006.00543a.x
2006

Submicroscopic deletions and duplications in individuals with intellectual disability detected by Array-CGH
American Journal of Medical Genetics
Tyson, C. and Harvard, C. and Locker, R. and Friedman, J.M. and Langlois, S. and Lewis, M.E.S. and Van Allen, M. and Somerville, M. and Arbour, L. and Clarke, L. and McGilivray, B. and Yong, S.L. and Siegel-Bartel, J. and Rajcan-Separovic, E.
DOI: 10.1002/ajmg.a.31015
2005

Complete rescue of lipoprotein lipase-deficient mice by somatic gene transfer of the naturally occurring LPL^S447X beneficial mutation
Arteriosclerosis, Thrombosis, and Vascular Biology
Ross, C.J.D. and Liu, G. and Kuivenhoven, J.A. and Twisk, J. and Rip, J. and Van Dop, W. and Excoffon, K.J.D.A. and Lewis, S.M.E. and Kastelein, J.J. and Hayden, M.R.
DOI: 10.1161/01.ATV.0000176971.27302.b0
2005

A variant Cri du Chat phenotype and autism spectrum disorder in a subject with de novo cryptic microdeletions involving 5p15.2 and 3p24.3-25 detected using whole genomic array CGH
Clinical Genetics
Harvard, C. and Malenfant, P. and Koochek, M. and Creighton, S. and Mickelson, E.C.R. and Holden, J.J.A. and Lewis, M.E.S. and Rajcan-Separovic, E.
DOI: 10.1111/j.1399-0004.2005.00406.x
2005

The vast array of opportunity for genomic discovery in human genetic disorders ; HotSpots
Suzanne Lewis, ME
DOI: 10.1111/j.1399-0004.2005.0403a.x
2005

Systemic lupus erythematosus and other autoimmune disorders in children with noonan syndrome [4]
American Journal of Medical Genetics
Lopez-Rangel, E. and Malleson, P.N. and Lirenman, D.S. and Roa, B. and Wiszniewska, J. and Lewis, M.E.S.
DOI: 10.1002/ajmg.a.31017
2005

Prenatally detected trisomy 20 mosaicism
Prenatal Diagnosis
Robinson, W.P. and McGillivray, B. and Lewis, M.E.S. and Arbour, L. and Barrett, I. and Kalousek, D.K.
DOI: 10.1002/pd.1121
2005

Addressing health disparities through promoting equity for individuals with intellectual disability
Canadian Journal of Public Health
Ouellette-Kuntz, H. and Garcin, N. and Lewis, M.E.S. and Minnes, P. and Martin, C. and Holden, J.J.A.
DOI: 10.1007/bf03403699
2005

Genes, screens, and means for advancing the diagnosis and anticipatory care of individuals with congenital intellectual disability.
Clinical genetics
Lewis, M.E.
DOI: 10.1111/j..2004.0195a_65_1.x
2004

Abnormal pericyte recruitment as a cause for pulmonary hypertension in Adams-Oliver syndrome
American Journal of Medical Genetics
Patel, M.S. and Taylor, G.P. and Bharya, S. and Al-Sanna'a, N. and Adatia, I. and Chitayat, D. and Lewis, M.E.S. and Human, D.G.
DOI: 10.1002/ajmg.a.30221
2004

Advocating a gene-based template of care for congenital intellectual disability.
Clinical genetics
Lewis, M.E.
DOI: 10.1111/j..2004.0195d.x
2004

Appraisal of genetic and epigenetic congruity of a monozygotic twin pair discordant for schizophrenia.
Journal of medical genetics
McDonald, P. and Lewis, M. and Murphy, B. and O'Reilly, R. and Singh, S.M.
DOI: 10.1136/jmg.40.2.e16
2003

Dissecting the genetic bases of brain form, function and phenotype
Clinical Genetics
Lewis, M.E.S.
DOI: 10.1034/j.1399-0004.2002.620202.x
2002

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy
Nature Genetics
Str?mme, P. and Mangelsdorf, M.E. and Shaw, M.A. and Lower, K.M. and Lewis, S.M.E. and Bruyere, H. and Lütcherath, V. and Gedeon, ?.K. and Wallace, R.H. and Scheffer, I.E. and Turner, G. and Partington, M. and Frints, S.G.M. and Fryns, J.-P. and Sutherland, G.R. and Mulley, J.C. and Gécz, J.
DOI: 10.1038/ng862
2002

Refining the spectrum of genes in austism spectrum disorder
Clinical Genetics
Lewis, M.E.S.
DOI: 10.1034/j.1399-0004.2002.610102.x
2002

Hotspots
Clinical Genetics
Lewis, M.E.S.
DOI: 10.1034/j.1399-0004.2001.59012.2.x
2001

The success of gene therapy in correcting the failings of advancing age ; HotSpots
Suzanne Lewis, ME
DOI: 10.1034/j.1399-0004.2000.5701022.x
2001

Genetic modification of the human mitotic clock by telomerase: a matter of life and death ; HotSpots
Suzanne Lewis, ME
DOI: 10.1034/j.1399-0004.2000.5701021.x
2001

‘New Age’ gene medicines for the 21st century ; HotSpots
Suzanne Lewis, ME
DOI: 10.1034/j.1399-0004.2000.570102.x
2001

An association between skewed X-chromosome inactivation and abnormal outcome in mosaic trisomy 16 confined predominantly to the placenta
Clinical Genetics
Peñaherrera, Ms. and Barrett, I.J. and Brown, C.J. and Langlois, S. and Yong, S.-L. and Lewis, S. and Bruyère, H. and Howard-Peebles, P.N. and Kalousek, D.K. and Robinson, W.P.
DOI: 10.1034/j.1399-0004.2000.580603.x
2000

Altering the pathway to human gene therapy
Clinical Genetics
Lewis, M.E.S.
DOI: 10.1034/j.1399-0004.2000.580102.x
2000

Phenotypic correction of feline lipoprotein lipase deficiency by adenoviral gene transfer
Human Gene Therapy
Liu, G. and Ashbourne Excoffon, K.J.D. and Wilson, J.E. and McManus, B.M. and Rogers, Q.R. and Miao, L. and Kastelein, J.J.P. and Lewis, M.E.S. and Hayden, M.R.
DOI: 10.1089/10430340050016120
2000

Confirmation of linkage in X-linked infantile spasms (West syndrome) and refinement of the disease locus to Xp21.3-Xp22.1
Clinical Genetics
DOI: 10.1034/j.1399-0004.1999.550305.x
1999

Lipid and lipoprotein analysis of cats with lipoprotein lipase deficiency
European Journal of Clinical Investigation
Ginzinger, D.G. and Clee, S.M. and Dallongeville, J. and Lewis, M.E.S. and Henderson, H.E. and Bauje, E. and Rogers, Q.R. and Jensen, D.R. and Eckel, R.H. and Dyer, R. and Innis, S. and Jones, B. and Fruchart, J.-C. and Hayden, M.R.
DOI: 10.1046/j.1365-2362.1999.00435.x
1999

Increasing evidence for a new X-linked mental retardation/epilepsy gene localized to Xp21.3-Xp22.1 [3]
American Journal of Medical Genetics
Bruyere, H. and Lewis, M.E.S. and Wood, S. and Macleod, P. and Langlois, S.
DOI: 10.1002/(SICI)1096-8628(19991008)86:43.0.CO;2-X
1999

Crossing the blood-brain barrier to central nervous system gene therapy.
Clinical genetics
Lewis, M.E.
DOI: 10.1034/j.1399-0004.1999.560102.x
1999

Enhanced lipolysis in normal mice expressing liver-derived human lipoprotein lipase after adenoviral gene transfer
Clinical and Investigative Medicine
Liu, G. and Ashbourne Excoffon, K.J.D. and Wilson, J.E. and McManus, B.M. and Miao, L. and Benoit, P. and Duverger, N. and Branellec, D. and Denefle, P. and Hayden, M.R. and Lewis, M.E.S.
1998

Diet-induced atherosclerosis in the domestic cat
Laboratory Investigation
Ginzinger, D.G. and Wilson, J.E. and Redenbach, D. and Lewis, M.E.S. and Clee, S.M. and Ashbourne Excoffon, K.J.D. and Rogers, Q.R. and Hayden, M.R. and McManus, B.M.
1997

Correction of hypertriglyceridemia and impaired fat tolerance in lipoprotein lipase - Deficient mice by adenovirus-mediated expression of human lipoprotein lipase
Arteriosclerosis, Thrombosis, and Vascular Biology
Ashbourne Excoffon, K.J.D. and Liu, G. and Miao, L. and Wilson, J.E. and McManus, B.M. and Semenkovich, C.F. and Coleman, T. and Benoit, P. and Duverger, N. and Branellec, D. and Denefle, P. and Hayden, M.R. and Lewis, M.E.S.
DOI: 10.1161/01.atv.17.11.2532
1997

Efficient adenovirus-mediated ectopic gene expression of human lipoprotein lipase in human hepatic (HepG2) cells
Human Gene Therapy
Liu, G. and Ashbourne Excoffon, K.J.D. and Benoit, P. and Ginzinger, D.G. and Miao, L. and Ehrenborg, E. and Duverger, N. and Denefle, P.P. and Hayden, M.R. and Lewis, M.E.S.
DOI: 10.1089/hum.1997.8.2-205
1997

Novel, case of del(17)(q23.1q23.3) Further highlights a recognizable phenotype involving deletions of chromosome (17) (q21q24)
American Journal of Medical Genetics
Mickelson, E.C.R. and Robinson, W.P. and Hrynchak, M.A. and Lewis, M.E.S.
DOI: 10.1002/(SICI)1096-8628(19970822)71:33.0.CO;2-T
1997

A mutation in the lipoprotein lipase gene is the molecular basis of chylomicronemia in a colony of domestic cats
Journal of Clinical Investigation
Ginzinger, D.G. and Lewis, M.E.S. and Ma, Y. and Jones, B.R. and Liu, G. and Jones, S.D. and Hayden, M.R.
DOI: 10.1172/JCI118541
1996

Gene-based Therapeutic Strategies for Human Lipoprotein Lipase (LPL) Deficiency: Rationale and Prospects for Alteration of Atherogenic Risk
Transfusion and Apheresis Science
Lewis, M.E.S. and Liu, G. and Ginzinger, D.G. and Benoit, P. and Jones, S.D. and Ashbourne, K.J.D. and Wilson, J.E. and McManus, B.M. and Duverger, N. and Denefle, P.P. and Hayden, M.R.
DOI: 10.1016/0955-3886(95)00061-5
1996

Retroviral-mediated gene transfer and expression of human lipoprotein lipase in somatic cells
Human Gene Therapy
1995

Fanconi anemia in a child previously diagnosed as Baller-Gerold syndrome [3]
American Journal of Medical Genetics
Farrell, S.A. and Paes, B.A. and Lewis, M.E.S.
DOI: 10.1002/ajmg.1320500123
1994

Baller-Gerold syndrome associated with congenital hydrocephalus
American Journal of Medical Genetics
Lewis, M.E.S. and Rosenbaum, P.L. and Paes, B.A.
DOI: 10.1002/ajmg.1320400312
1991

Secondary acute non-lymphocytic leukemia with monosomy 7 arising 9 years after acute lymphoblastic leukemia in childhood
Cancer Genetics and Cytogenetics
DOI: 10.1016/0165-4608(91)90239-Q
1991