Variants in DENND2B are associated with vulnerability for neurodevelopmental impairment, psychosis and catatonia
Brain
Harsha Murthy and Ny Hoang and Jamie C Stark and Sunny Cui and Emanuela Pannia and Chung Ting Tsoi and Simon Harris and Cairah Ceolin and Lauren Verhaeghe and Sydney Scholten and Danielle Baribeau and Jane Summers and Gregory Costain and Thanuja Selvanayagam and Jennifer L Howe and M E Suzanne Lewis and Theresa Brunet and Susanne Rieger and Jill A Rosenfeld and William J Craigen and Lindsay C Burrage and Michelle R Christie and Deborah Baldwin and Ingrid M Wentzensen and Boris Keren and Benjamin Cogne and Bertrand Isidor and Alexandra Afenjar and Reem M Elshafie and Laila Bastaki and Sumaya Alkanderi and Kenneth A Myers and Scott Demarest and Katie Angione and Megan Abbott and Philippe M Campeau and James J Dowling and Roberto Mendoza-Londono and Stephen W Scherer and Ashish R Deshwar and Jacob Vorstman
DOI:
10.1093/brain/awaf273
07 / 2025
Reporting a Homozygous Case of Neurodevelopmental Disorder Associated With a Novel PRPF8 Variant
Molecular Genetics and Genomic Medicine
Mirinezhad, M.R. and Mirzaei, F. and Salmaninejad, A. and Esfehani, R.J. and Seyedtaghia, M.R. and Farahmand, S. and Toosi, M.B. and Hashemian, S. and Lewis, M.E.S.
DOI:
10.1002/mgg3.70084
Uncovering the complexity of structural variants in four individuals with autism spectrum disorder
Genome
Dada, S. and Dixon, K. and Akbari, V. and Grisdale, C.J. and Calli, K. and Martell, S. and Reisle, C. and Lillico-Ouachour, A. and Lewis, M.E.S. and Jones, S.J.M.
DOI:
10.1139/gen-2024-0121
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes
American Journal of Human Genetics
Rots, D. and Choufani, S. and Faundes, V. and Dingemans, A.J.M. and Joss, S. and Foulds, N. and Jones, E.A. and Stewart, S. and Vasudevan, P. and Dabir, T. and Park, S.-M. and Jewell, R. and Brown, N. and Pais, L. and Jacquemont, S. and Jizi, K. and Ravenswaaij-Arts, C.M.A.V. and Kroes, H.Y. and Stumpel, C.T.R.M. and Ockeloen, C.W. and Diets, I.J. and Nizon, M. and Vincent, M. and Cogn, B. and Besnard, T. and Kambouris, M. and Anderson, E. and Zackai, E.H. and McDougall, C. and Donoghue, S. and O'Donnell-Luria, A. and Valivullah, Z. and O'Leary, M. and Srivastava, S. and Byers, H. and Leslie, N. and Mazzola, S. and Tiller, G.E. and Vera, M. and Shen, J.J. and Boles, R. and Jain, V. and Brischoux-Boucher, E. and Kinning, E. and Simpson, B.N. and Giltay, J.C. and Harris, J. and Keren, B. and Guimier, A. and Marijon, P. and de Vries, B.B.A. and Motter, C.S. and Mendelsohn, B.A. and Coffino, S. and Gerkes, E.H. and Afenjar, A. and Visconti, P. and Bacchelli, E. and Maestrini, E. and Delahaye-Duriez, A. and Gooch, C. and Hendriks, Y. and Adams, H. and Thauvin-Robinet, C. and Josephi-Taylor, S. and Bertoli, M. and Parker, M.J. and Rutten, J.W. and Caluseriu, O. and Vernon, H.J. and Kaziyev, J. and Zhu, J. and Kremen, J. and Frazier, Z. and Osika, H. and Breault, D. and Nair, S. and Lewis, S.M.E. and Ceroni, F. and Viggiano, M. and Posar, A. and Brittain, H. and Giovanna, T. and Giulia, G. and Quteineh, L. and Ha-Vinh Leuchter, R. and Zonneveld-Huijssoon, E. and Mellado, C. and Marey, I. and Coudert, A. and Aracena Alvarez, M.I. and Kennis, M.G.P. and Bouman, A. and Roifman, M. and Amors Rodrguez, M.I. and Ortigoza-Escobar, J.D. and Vernimmen, V. and Sinnema, M. and Pfundt, R. and Brunner, H.G. and Vissers, L.E.L.M. and Kleefstra, T. and Weksberg, R. and Banka, S.
DOI:
10.1016/j.ajhg.2024.06.009
Clinical and Molecular Characterization of a Novel Homozygous Frameshift Variant in AEBP1-Related Classical-like Ehlers Danlos Syndrome Type 2 with Comparison to Previously Reported Rare Cases
Genes
Ha, Z.Y. and Chijiwa, C. and Lewis, S.
DOI:
10.3390/genes15040461
Iron Deficiency and Restless Sleep/Wake Behaviors in Neurodevelopmental Disorders and Mental Health Conditions
Nutrients
Ipsiroglu, O.S. and Pandher, P.K. and Hill, O. and McWilliams, S. and Braschel, M. and Edwards, K. and Friedlander, R. and Keys, E. and Kuo, C. and Lewis, M.S. and Richardson, A. and Wagner, A.L. and Wensley, D.
DOI:
10.3390/nu16183064
Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature
Genetics in Medicine
van Jaarsveld, R.H. and Reilly, J. and Cornips, M.-C. and Hadders, M.A. and Agolini, E. and Ahimaz, P. and Anyane-Yeboa, K. and Bellanger, S.A. and van Binsbergen, E. and van den Boogaard, M.-J. and Brischoux-Boucher, E. and Caylor, R.C. and Ciolfi, A. and van Essen, T.A.J. and Fontana, P. and Hopman, S. and Iascone, M. and Javier, M.M. and Kamsteeg, E.-J. and Kerkhof, J. and Kido, J. and Kim, H.-G. and Kleefstra, T. and Lonardo, F. and Lai, A. and Lev, D. and Levy, M.A. and Lewis, M.E.S. and Lichty, A. and Mannens, M.M.A.M. and Matsumoto, N. and Maya, I. and McConkey, H. and Megarbane, A. and Michaud, V. and Miele, E. and Niceta, M. and Novelli, A. and Onesimo, R. and Pfundt, R. and Popp, B. and Prijoles, E. and Relator, R. and Redon, S. and Rots, D. and Rouault, K. and Saida, K. and Schieving, J. and Tartaglia, M. and Tenconi, R. and Uguen, K. and Verbeek, N. and Walsh, C.A. and Yosovich, K. and Yuskaitis, C.J. and Zampino, G. and Sadikovic, B. and Alders, M. and Oegema, R.
DOI:
10.1016/j.gim.2022.09.006
Complex Autism Spectrum Disorder in a Patient with a Novel De Novo Heterozygous MYT1L Variant
Genes
Yip, S. and Calli, K. and Qiao, Y. and Trost, B. and Scherer, S.W. and Lewis, M.E.S.
DOI:
10.3390/genes14122122
Genetic and metabolic investigations for neurodevelopmental disorders: Position statement of the Canadian College of Medical Geneticists (CCMG)
Journal of Medical Genetics
Carter, M.T. and Srour, M. and Au, P.-Y.B. and Buhas, D. and Dyack, S. and Eaton, A. and Inbar-Feigenberg, M. and Howley, H. and Kawamura, A. and Lewis, S.M.E. and McCready, E. and Nelson, T.N. and Vallance, H.
DOI:
10.1136/jmg-2022-108962
Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders
OpenAlex
DOI:
10.60692/5h97r-94h45
02 / 2022
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders
Human Mutation
Levy, M.A. and Relator, R. and McConkey, H. and Pranckeviciene, E. and Kerkhof, J. and Barat-Houari, M. and Bargiacchi, S. and Biamino, E. and Palomares Bralo, M. and Cappuccio, G. and Ciolfi, A. and Clarke, A. and DuPont, B.R. and Elting, M.W. and Faivre, L. and Fee, T. and Ferilli, M. and Fletcher, R.S. and Cherick, F. and Foroutan, A. and Friez, M.J. and Gervasini, C. and Haghshenas, S. and Hilton, B.A. and Jenkins, Z. and Kaur, S. and Lewis, S. and Louie, R.J. and Maitz, S. and Milani, D. and Morgan, A.T. and Oegema, R. and ?stergaard, E. and Pallares, N.R. and Piccione, M. and Plomp, A.S. and Poulton, C. and Reilly, J. and Rius, R. and Robertson, S. and Rooney, K. and Rousseau, J. and Santen, G.W.E. and Santos-Simarro, F. and Schijns, J. and Squeo, G.M. and John, M.S. and Thauvin-Robinet, C. and Traficante, G. and van der Sluijs, P.J. and Vergano, S.A. and Vos, N. and Walden, K.K. and Azmanov, D. and Balci, T.B. and Banka, S. and Gecz, J. and Henneman, P. and Lee, J.A. and Mannens, M.M.A.M. and Roscioli, T. and Siu, V. and Amor, D.J. and Baynam, G. and Bend, E.G. and Boycott, K. and Brunetti-Pierri, N. and Campeau, P.M. and Campion, D. and Christodoulou, J. and Dyment, D. and Esber, N. and Fahrner, J.A. and Fleming, M.D. and Genevieve, D. and Heron, D. and Husson, T. and Kernohan, K.D. and McNeill, A. and Menke, L.A. and Merla, G. and Prontera, P. and Rockman-Greenberg, C. and Schwartz, C. and Skinner, S.A. and Stevenson, R.E. and Vincent, M. and Vitobello, A. and Tartaglia, M. and Alders, M. and Tedder, M.L. and Sadikovic, B.
DOI:
10.1002/humu.24446
Genomic architecture of autism from comprehensive whole-genome sequence annotation
Cell
Trost, B. and Thiruvahindrapuram, B. and Chan, A.J.S. and Engchuan, W. and Higginbotham, E.J. and Howe, J.L. and Loureiro, L.O. and Reuter, M.S. and Roshandel, D. and Whitney, J. and Zarrei, M. and Bookman, M. and Somerville, C. and Shaath, R. and Abdi, M. and Aliyev, E. and Patel, R.V. and Nalpathamkalam, T. and Pellecchia, G. and Hamdan, O. and Kaur, G. and Wang, Z. and MacDonald, J.R. and Wei, J. and Sung, W.W.L. and Lamoureux, S. and Hoang, N. and Selvanayagam, T. and Deflaux, N. and Geng, M. and Ghaffari, S. and Bates, J. and Young, E.J. and Ding, Q. and Shum, C. and D{'}Abate, L. and Bradley, C.A. and Rutherford, A. and Aguda, V. and Apresto, B. and Chen, N. and Desai, S. and Du, X. and Fong, M.L.Y. and Pullenayegum, S. and Samler, K. and Wang, T. and Ho, K. and Paton, T. and Pereira, S.L. and Herbrick, J.-A. and Wintle, R.F. and Fuerth, J. and Noppornpitak, J. and Ward, H. and Magee, P. and Al Baz, A. and Kajendirarajah, U. and Kapadia, S. and Vlasblom, J. and Valluri, M. and Green, J. and Seifer, V. and Quirbach, M. and Rennie, O. and Kelley, E. and Masjedi, N. and Lord, C. and Szego, M.J. and Zawati, M.H. and Lang, M. and Strug, L.J. and Marshall, C.R. and Costain, G. and Calli, K. and Iaboni, A. and Yusuf, A. and Ambrozewicz, P. and Gallagher, L. and Amaral, D.G. and Brian, J. and Elsabbagh, M. and Georgiades, S. and Messinger, D.S. and Ozonoff, S. and Sebat, J. and Sjaarda, C. and Smith, I.M. and Szatmari, P. and Zwaigenbaum, L. and Kushki, A. and Frazier, T.W. and Vorstman, J.A.S. and Fakhro, K.A. and Fernandez, B.A. and Lewis, M.E.S. and Weksberg, R. and Fiume, M. and Yuen, R.K.C. and Anagnostou, E. and Sondheimer, N. and Glazer, D. and Hartley, D.M. and Scherer, S.W.
DOI:
10.1016/j.cell.2022.10.009
Complex Autism Spectrum Disorder with Epilepsy, Strabismus and Self-Injurious Behaviors in a Patient with a De Novo Heterozygous POLR2A Variant
Genes
Evans, D.R. and Qiao, Y. and Trost, B. and Calli, K. and Martell, S. and Jones, S.J.M. and Scherer, S.W. and Lewis, M.E.S.
DOI:
10.3390/genes13030470
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.
DOI:
10.1038/s41390-021-01465-y
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders
Human Genetics and Genomics Advances
Levy, M.A. and McConkey, H. and Kerkhof, J. and Barat-Houari, M. and Bargiacchi, S. and Biamino, E. and Bralo, M.P. and Cappuccio, G. and Ciolfi, A. and Clarke, A. and DuPont, B.R. and Elting, M.W. and Faivre, L. and Fee, T. and Fletcher, R.S. and Cherik, F. and Foroutan, A. and Friez, M.J. and Gervasini, C. and Haghshenas, S. and Hilton, B.A. and Jenkins, Z. and Kaur, S. and Lewis, S. and Louie, R.J. and Maitz, S. and Milani, D. and Morgan, A.T. and Oegema, R. and ?stergaard, E. and Pallares, N.R. and Piccione, M. and Pizzi, S. and Plomp, A.S. and Poulton, C. and Reilly, J. and Relator, R. and Rius, R. and Robertson, S. and Rooney, K. and Rousseau, J. and Santen, G.W.E. and Santos-Simarro, F. and Schijns, J. and Squeo, G.M. and St John, M. and Thauvin-Robinet, C. and Traficante, G. and van der Sluijs, P.J. and Vergano, S.A. and Vos, N. and Walden, K.K. and Azmanov, D. and Balci, T. and Banka, S. and Gecz, J. and Henneman, P. and Lee, J.A. and Mannens, M.M.A.M. and Roscioli, T. and Siu, V. and Amor, D.J. and Baynam, G. and Bend, E.G. and Boycott, K. and Brunetti-Pierri, N. and Campeau, P.M. and Christodoulou, J. and Dyment, D. and Esber, N. and Fahrner, J.A. and Fleming, M.D. and Genevieve, D. and Kerrnohan, K.D. and McNeill, A. and Menke, L.A. and Merla, G. and Prontera, P. and Rockman-Greenberg, C. and Schwartz, C. and Skinner, S.A. and Stevenson, R.E. and Vitobello, A. and Tartaglia, M. and Alders, M. and Tedder, M.L. and Sadikovic, B.
DOI:
10.1016/j.xhgg.2021.100075
Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study
Human Genetics and Genomics Advances
Elliott, A.M. and Adam, S. and du Souich, C. and Lehman, A. and Nelson, T.N. and van Karnebeek, C. and Alderman, E. and Armstrong, L. and Aubertin, G. and Blood, K. and Boelman, C. and Boerkoel, C. and Bretherick, K. and Brown, L. and Chijiwa, C. and Clarke, L. and Couse, M. and Creighton, S. and Watts-Dickens, A. and Gibson, W.T. and Gill, H. and Tarailo-Graovac, M. and Hamilton, S. and Heran, H. and Horvath, G. and Huang, L. and Hulait, G.K. and Koehn, D. and Lee, H.K. and Lewis, S. and Lopez, E. and Louie, K. and Niederhoffer, K. and Matthews, A. and Meagher, K. and Peng, J.J. and Patel, M.S. and Race, S. and Richmond, P. and Rupps, R. and Salvarinova, R. and Seath, K. and Selby, K. and Steinraths, M. and Stockler, S. and Tang, K. and Tyson, C. and van Allen, M. and Wasserman, W. and Mwenifumbo, J. and Friedman, J.M.
DOI:
10.1016/j.xhgg.2022.100108
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
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 Pritianac 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 Amlie Piton and James Lespinasse and Richard Delorme and Thomas Bourgeron and Evdokia Anagnostou and Stephen W. Scherer
DOI:
10.1038/s41525-021-00254-0
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 Bartholomus A and Martens V and Bruckmann A and Graus V and McConkie-Rosell A and McDonald M and Kreienkamp HJ
DOI:
10.1038/s41467-020-19572-5
PubMed:
33199684
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
DOI:
10.1002/ajmg.a.61926
PubMed:
33098347
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.
DOI:
10.1038/s41586-020-2579-z
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
DOI:
10.1111/cge.13556/v2/response1
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 unap, 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
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
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
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.
DOI:
10.1007/s00431-019-03399-4
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
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
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
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
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 Peaherrera, M.S. and Robinson, W.P. and Volchuk, A. and Rajcan-Separovic, E.
DOI:
10.1002/ajmg.a.38247
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 Mnnikk, R. and Muntoni, F.
DOI:
10.1093/brain/awv352
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
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.
DOI:
10.1186/s12881-016-0340-0
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
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 Mac, 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 Grard, 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 Mnnik, 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 Frminville, 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.
DOI:
10.1001/jamapsychiatry.2015.2123
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.
DOI:
10.1172/jci.insight.85461
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 Drgemller, 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.
DOI:
10.1056/NEJMoa1515792
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
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
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
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
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
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
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
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
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
Genotype-phenotype analysis of 18q12.1-q12.2 copy number variation in autism
European Journal of Medical Genetics
Wang, P. and Carrion, P. and Qiao, Y. and Tyson, C. and Hrynchak, M. and Calli, K. and Lopez-Rangel, E. and Andrieux, J. and Delobel, B. and Duban-Bedu, B. and Thuresson, A.-C. and Annern, G. and Liu, X. and Rajcan-Separovic, E. and Suzanne Lewis, M.E.
DOI:
10.1016/j.ejmg.2013.05.006
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.
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
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.
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
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 Mac, 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 Mnnik, 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 Rtzer, K.M. and Ruiter, M. and Sanlaville, D. and Selmoni, S. and Shen, Y. and Siffredi, V. and Thonney, J. and Valle, 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
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
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 Fernndez-Aranda, F. and Fernndez-Real, J.M. and Gratacs, M. and Guilmatre, A. and Hoyer, J. and Jarvelin, M.-R. and Frank Kooy, R. and Kurg, A. and Le Caignec, C. and Mnnik, 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 Bna, 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 Jimnez, S. and Joly Helas, G. and Jonveaux, P. and Kaksonen, S. and Keren, B. and Kloss-Brandsttter, 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 Tengstrm, C. and Thorsteinsdttir, U. and Tinahones, F.J. and Touraine, R. and Valle, L. and Van Binsbergen, E. and Van Der Aa, N. and Vincent-Delorme, C. and Visvikis-Siest, S. and Vollenweider, P. and Vlzke, 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Complete rescue of lipoprotein lipase-deficient mice by somatic gene transfer of the naturally occurring LPLS447X 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
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
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
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
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
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
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
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
Advocating a gene-based template of care for congenital intellectual disability.
Clinical genetics
Lewis, M.E.
DOI:
10.1111/j..2004.0195d.x
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
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
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 Ltcherath, 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 Gcz, J.
DOI:
10.1038/ng862
Refining the spectrum of genes in austism spectrum disorder
Clinical Genetics
Lewis, M.E.S.
DOI:
10.1034/j.1399-0004.2002.610102.x
Hotspots
Clinical Genetics
Lewis, M.E.S.
DOI:
10.1034/j.1399-0004.2001.59012.2.x
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
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
New Age gene medicines for the 21st century ; HotSpots
Suzanne Lewis, ME
DOI:
10.1034/j.1399-0004.2000.570102.x
An association between skewed X-chromosome inactivation and abnormal outcome in mosaic trisomy 16 confined predominantly to the placenta
Clinical Genetics
Peaherrera, Ms. and Barrett, I.J. and Brown, C.J. and Langlois, S. and Yong, S.-L. and Lewis, S. and Bruyre, H. and Howard-Peebles, P.N. and Kalousek, D.K. and Robinson, W.P.
DOI:
10.1034/j.1399-0004.2000.580603.x
Altering the pathway to human gene therapy
Clinical Genetics
Lewis, M.E.S.
DOI:
10.1034/j.1399-0004.2000.580102.x
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
Confirmation of linkage in X-linked infantile spasms (West syndrome) and refinement of the disease locus to Xp21.3-Xp22.1
Clinical Genetics
Bruyere, H. and Suzanne Lewis, M.E. and Wood, S. and MacLeod, P.J. and Langlois, S.
DOI:
10.1034/j.1399-0004.1999.550305.x
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
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)86:4u003C401::AID-AJMG18u003E3.0.CO;2-X
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
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.
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.
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
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
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)71:3u003C275::AID-AJMG5u003E3.0.CO;2-T
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
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
Retroviral-mediated gene transfer and expression of human lipoprotein lipase in somatic cells
Human Gene Therapy
Lewis, M.E.S. and Forsythe, I.J. and Marth, J.D. and Brunzell, J.D. and Hayden, M.R. and Humphries, R.K.
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
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
Secondary acute non-lymphocytic leukemia with monosomy 7 arising 9 years after acute lymphoblastic leukemia in childhood
Cancer Genetics and Cytogenetics
Suzanne Lewis, M.E. and Solh, H. and Poon, A. and Dub, I.D.
DOI:
10.1016/0165-4608(91)90239-Q
