Zhang H, Alarcon C, Cavallari LH, Nutescu E, Carvill GL, Perera MA, Hernandez W. Genomewide Association Study Identifies Copy Number Variants Associated With Warfarin Dose Response and Risk of Venous Thromboembolism in African Americans. Clin Pharmacol Ther. 2023 Mar;113(3):624-633. doi: 10.1002/cpt.2820. Epub 2023 Jan 19. PMID: 36507737.

Happ HC, Sadleir LG, Zemel M, de Valles-Ibáñez G, Hildebrand MS, McConkie-Rosell A, McDonald M, May H, Sands T, Aggarwal V, Elder C, Feyma T, Bayat A, Møller RS, Fenger CD, Klint Nielsen JE, Datta AN, Gorman KM, King MD, Linhares ND, Burton BK, Paras A, Ellard S, Rankin J, Shukla A, Majethia P, Olson RJ, Muthusamy K, Schimmenti LA, Starnes K, Sedláčková L, Štěrbová K, Vlčková M, Laššuthová P, Jahodová A, Porter BE, Couque N, Colin E, Prouteau C, Collet C, Smol T, Caumes R, Vansenne F, Bisulli F, Licchetta L, Person R, Torti E, McWalter K, Webster R, Gerard EE, Lesca G, Szepetowski P, Scheffer IE, Mefford HC, Carvill GL. Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5. Neurology. 2023 Feb 7;100(6):e603-e615. doi: 10.1212/WNL.0000000000201492. Epub 2022 Oct 28. PMID: 36307226; PMCID: PMC9946193.

Van Loo, K.M.J., Carvill, G.L., Becker, A.J. et al. Epigenetic genes and epilepsy — emerging mechanisms and clinical applications. Nat Rev Neurol 18, 530–543 (2022). https://doi.org/10.1038/s41582-022-00693-y

Demarest S, Calhoun J, Eschbach K, Yu HC, Mirsky D, Angione K, Shaikh TH, Carvill GL, Benke TA; WES Support Group. Whole-exome sequencing and adrenocorticotropic hormone therapy in individuals with infantile spasms. Dev Med Child Neurol. 2022 May;64(5):633-640. doi: 10.1111/dmcn.15109. Epub 2021 Nov 19. PMID: 35830182.

Calhoun JD, Aziz MC, Happ HC, Gunti J, Gleason C, Mohamed N, Zeng K, Hiller M, Bryant E, Mithal DS, Bellinski I, Kinsley L, Grimmel M, Schwaibold EMC, Smith-Hicks C, Chassevent A, Scala M, Accogli A, Torella A, Striano P, Capra V, Bird LM, Ben-Sahra I, Ekhilevich N, Hershkovitz T, Weiss K, Millichap J, Gerard EE, Carvill GL. mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletion. Brain. 2022 Jun 30;145(6):1939-1948. doi: 10.1093/brain/awab451. Erratum in: Brain. 2023 Mar 30;: PMID: 35773235; PMCID: PMC9630660.

Zhang DY, Gould A, Happ HC, Youngblood MW, Dmello C, Kang SJ, Canney M, Stupp R, Carvill GL, Sonabend AM. Ultrasound-mediated blood-brain barrier opening increases cell-free DNA in a time-dependent manner. Neurooncol Adv. 2021 Nov 12;3(1):vdab165. doi: 10.1093/noajnl/vdab165. PMID: 34993480; PMCID: PMC8717890.

Cheng JZ, Carvill GL. Pathogenic mechanisms underlying SLC6A1 variant-mediated neurodevelopmental disorders. Brain. 2021 Sep 4;144(8):2237-2239. doi: 10.1093/brain/awab259. PMID: 34283886.

Carvill GL, Matheny T, Hesselberth J, Demarest S. Haploinsufficiency, Dominant Negative, and Gain-of-Function Mechanisms in Epilepsy: Matching Therapeutic Approach to the Pathophysiology. Neurotherapeutics. 2021 Jul;18(3):1500-1514. doi: 10.1007/s13311-021-01137-z. Epub 2021 Oct 14. PMID: 34648141; PMCID: PMC8608973.

Spinelli E, Christensen KR, Bryant E, Schneider A, GenCouns M, Rakotomamonjy J, Muir AM, Giannelli J, Littlejohn RO, Roeder ER, Schmidt B, Wilson WG, Marco EJ, Iwama K, Kumada S, Pisano T, Barba C, Vetro A, Brilstra EH, van Jaarsveld RH, Matsumoto N, Goldberg-Stern H, Carney P, Andrews PI, El Achkar CM, Berkovic S, Rodan LH; Undiagnosed Diseases Network (UDN), McWalter K, Guerrini R, Scheffer IE, Mefford HC, Mandelstam S, Laux L, Millichap JJ, Guemez-Gamboa A, Nairn AC, Carvill GL. Pathogenic MAST3 variants in the STK domain are associated with epilepsy. Ann Neurol. 2021 Jun 29. doi: 10.1002/ana.26147. Epub ahead of print. PMID: 34185323.

Aziz MC, Schneider PN, Carvill GL. Targeting Poison Exons to Treat Developmental and Epileptic Encephalopathy. Dev Neurosci. 2021 May 10:1-6. doi: 10.1159/000516143. Epub ahead of print. PMID: 33971653.

Mencacci NE, Brockmann MM, Dai J, Pajusalu S, Atasu B, Campos J, Pino G, Gonzalez-Latapi P, Patzke C, Schwake M, Tucci A, Pittman A, Simon-Sanchez J, Carvill GL, Balint B, Wiethoff S, Warner TT, Papandreou A, Soo A, Rein R, Kadastik-Eerme L, Puusepp S, Reinson K, Tomberg T, Hanagasi H, Gasser T, Bhatia KP, Kurian MA, Lohmann E, Õunap K, Rosenmund C, Südhof TC, Wood NW, Krainc D, Acuna C. Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia. J Clin Invest. 2021 Apr 1;131(7):e140625. doi: 10.1172/JCI140625. PMID: 33539324; PMCID: PMC8011894.

Myers KA, Marini C, Carvill GL, McTague A, Panetta J, Stutterd C, Stanley T, Marin S, Nguyen J, Barba C, Rosati A, Scott RH, Mefford HC, Guerrini R, Scheffer IE. Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder. Neurol Genet. 2021 Mar 18;7(2):e579. doi: 10.1212/NXG.0000000000000579. PMID: 33912662; PMCID: PMC8075573.

Jeffrey D Calhoun, Miriam C Aziz, Hannah C Happ, Jonathan Gunti, Colleen Gleason, Najma Mohamed, Kristy Zeng, Meredith Hiller, Emily Bryant, Divakar Mithal, Irena Bellinski, Lisa Kinsley, Mona Grimmel, Eva MC Schwaibold, Constance Smith-Hicks, Anna Chassevent, Marcello Scala, Andrea Accogli, Annalaura Torella, Pasquale Striano, Valeria Capra, Lynne M. Bird, Issam Ben-Sahra, Nina Ekhilevich, Tova Hershkovitz, Karin Weiss, John Millichap, Elizabeth E Gerard, Gemma L Carvill. Determining the pathogenicity of variants of uncertain significance and identification of a founder variant in the epilepsy-associated gene, SZT2. BioRxiv. 2021 Jan 6: https://doi.org/10.1101/2021.01.06.425612

Calhoun JD, Carvill GL. Epilepsy Genetics: What Once Was Rare, Is Now Common. Epilepsy Curr. 2020 Jun 19;20(4):221-223. doi: 10.1177/1535759720933232. PMID: 34025233; PMCID: PMC7427164.

Carvill GL, Mefford HC. Poison exons in neurodevelopment and disease. Curr Opin Genet Dev. 2020 Jun 29;65:98-102. doi: 10.1016/j.gde.2020.05.030. Epub ahead of print. PMID: 32615329.

Carvill GL, Dulla CG, Lowenstein DH, Brooks-Kayal AR. The path from scientific discovery to cures for epilepsy. Neuropharmacology. 2020;167:107702. doi:10.1016/j.neuropharm.2019.107702

Happ, H. C., & Carvill, G. L. (2020). A 2020 View on the Genetics of Developmental and Epileptic Encephalopathies. Epilepsy currents, 20(2), 90–96. https://doi.org/10.1177/1535759720906118

Kobow, K., Reid, C. A., van Vliet, E. A., Becker, A. J., Carvill, G. L., Goldman, A. M., Hirose, S., Lopes-Cendes, I., Khiari, H. M., Poduri, A., Johnson, M. R., & Henshall, D. C. (2020). Epigenetics explained: a topic “primer” for the epilepsy community by the ILAE Genetics/Epigenetics Task Force. Epileptic disorders : international epilepsy journal with videotape, 22(2), 127–141. https://doi.org/10.1684/epd.2020.1143

Carvill, G. L., Helbig, K. L., Myers, C. T., Scala, M., Huether, R., Lewis, S., Kruer, T. N., Guida, B. S., Bakhtiari, S., Sebe, J., Tang, S., Stickney, H., Oktay, S. U., Bhandiwad, A. A., Ramsey, K., Narayanan, V., Feyma, T., Rohena, L. O., Accogli, A., Severino, M., … Kruer, M. C. (2020). Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy. Human mutation, 10.1002/humu.24015. Advance online publication. https://doi.org/10.1002/humu.24015

Bryant, E. M., Millichap, J. J., Spinelli, E., Calhoun, J. D., Miller, C., Giannelli, J., Wolak, J., Sanders, V., Carvill, G. L., & Charrow, J. (2020). Oligosaccharyltransferase complex-congenital disorders of glycosylation: A novel congenital disorder of glycosylation. American journal of medical genetics. Part A, 10.1002/ajmg.a.61553. Advance online publication. https://doi.org/10.1002/ajmg.a.61553.

Calhoun, J. D., Huffman, A. M., Bellinski, I., Kinsley, L., Bachman, E., Gerard, E., Kearney, J. A., & Carvill, G. L. (2020). CACNA1H variants are not a cause of monogenic epilepsy. Human mutation, 41(6), 1138–1144. https://doi.org/10.1002/humu.24017

Gertler, Tracy S., and Gemma L. Carvill. “SCN8A: When Neurons Are So Excited, They Just Can’t Hide It.” Epilepsy Currents, July 2019, doi:10.1177/1535759719858338.

Carvill, Gemma L., Chris G. Dulla, Dan H. Lowenstein, and Amy R. Brooks-Kayal. “The Path from Scientific Discovery to Cures for Epilepsy.” Neuropharmacology (2019): 107702. Print.

Rebecca Truty, Nila Patil ,Raman Sankar, Joseph Sullivan, John Millichap, Gemma Carvill, Ali Entezam, Edward D. Esplin, Amy Fuller, Michelle Hogue, Britt Johnson, Amirah Khouzam, Yuya Kobayashi, Rachel Lewis, Keith Nykamp, Darlene Riethmaier, Jody Westbrook, Michelle Zeman, Robert L. Nussbaum, Swaroop Aradhya  “Possible Precision Medicine Implications from Genetic Testing Using Combined Detection of Sequence and Intragenic Copy Number Variants in a Large Cohort with Childhood Epilepsy.” Epilepsia Open, 2019, doi:10.1002/epi4.12348.

Kathleen M. Gorman, Esther Meyer, Detelina Grozeva, Egidio Spinelli, Amy McTague, Alba Sanchis-Juan, Keren J. Carss, Emily Bryant, Adi Reich, Amy L. Schneider, Ronit M. Pressler, Michael A. Simpson, Geoff D. Debelle, Evangeline Wassmer, Jenny Morton, Diana Sieciechowicz, Eric Jan-Kamsteeg, Alex R. Paciorkowski, Mary D. King, J. Helen Cross, Annapurna Poduri, Heather C. Mefford, Ingrid E. Scheffer, Tobias B. Haack, Gary McCullagh, Jeremy F. McRae, Stephen Clayton, Tomas W. Fitzgerald, Joanna Kaplanis, Elena Prigmore, Diana Rajan, Alejandro Sifrim, Stuart Aitken, Nadia Akawi, Mohsan Alvi, Kirsty Ambridge, Daniel M. Barrett, Tanya Bayzetinova, Philip Jones, Wendy D. Jones, Daniel King, Netravathi Krishnappa, Laura E. Mason, Tarjinder Singh, Adrian R. Tivey, Munaza Ahmed, Uruj Anjum, Hayley Archer, Ruth Armstrong, Jana Awada, Meena Balasubramanian, Siddharth Banka, Diana Baralle, Angela Barnicoat, Paul Batstone, David Baty, Chris Bennett, Jonathan Berg, Birgitta Bernhard, A. Paul Bevan, Maria Bitner-Glindzicz, Edward Blair, Moira Blyth, David Bohanna, Louise Bourdon, David Bourn, Lisa Bradley, Angela Brady, Simon Brent, Carole Brewer, Kate Brunstrom, David J. Bunyan, John Burn, Natalie Canham, Bruce Castle, Kate Chandler, Elena Chatzimichali, Deirdre Cilliers, Angus Clarke, Susan Clasper, Jill Clayton-Smith, Virginia Clowes, Andrea Coates, Trevor Cole, Irina Colgiu, Amanda Collins, Morag N. 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Karen Temple, Jenny Thomson, Marc Tischkowitz, Susan Tomkins, Audrey Torokwa, Becky Treacy, Claire Turner, Peter Turnpenny, Carolyn Tysoe, Anthony Vandersteen, Vinod Varghese, Pradeep Vasudevan, Parthiban Vijayarangakannan, Julie Vogt, Emma Wakeling, Sarah Wallwark, Jonathon Waters, Astrid Weber, Diana Wellesley, Margo Whiteford, Sara Widaa, Sarah Wilcox, Emily Wilkinson, Denise Williams, Nicola Williams, Louise Wilson, Geoff Woods, Christopher Wragg, Michael Wright, Laura Yates, Michael Yau, Chris Nellåker, Michael Parker, Helen V. Firth, Caroline F. Wright, David R. FitzPatrick, Jeffrey C. Barrett, Matthew E. Hurles, Saeed Al Turki, Carl Anderson, Richard Anney, Dinu Antony, Maria Soler Artigas, Muhammad Ayub, Senduran Balasubramaniam, Jeffrey C. 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Jackson, Yalda Jamshidi, Tian Jing, Chris Joyce, Jane Kaye, Thomas Keane, Julia Keogh, John Kemp, Karen Kennedy, Anja Kolb-Kokocinski, Genevieve Lachance, Cordelia Langford, Daniel Lawson, Irene Lee, Monkol Lek, Jieqin Liang, Hong Lin, Rui Li, Yingrui Li, Ryan Liu, Jouko Lönnqvist, Margarida Lopes, Valentina Iotchkova, Daniel MacArthur, Jonathan Marchini, John Maslen, Mangino Massimo, Iain Mathieson, Gaëlle Marenne, Peter McGuffin, Andrew McIntosh, Andrew G. McKechanie, Andrew McQuillin, Sarah Metrustry, Hannah Mitchison, Alireza Moayyeri, James Morris, Francesco Muntoni, Kate Northstone, Michael O’Donnovan, Alexandros Onoufriadis, Stephen O’Rahilly, Karim Oualkacha, Michael J. Owen, Aarno Palotie, Kalliope Panoutsopoulou, Victoria Parker, Jeremy R. Parr, Lavinia Paternoster, Tiina Paunio, Felicity Payne, Olli Pietilainen, Vincent Plagnol, Lydia Quaye, Michael A. Quail, Lucy Raymond, Karola Rehnström, Susan Ring, Graham R.S. Ritchie, Nicola Roberts, David B. 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Bariana, Helen Baxendale, David Bennett, Claire Bethune, Shahnaz Bibi, Maria Bitner-Glindzicz, Marta Bleda, Harm Boggard, Paula Bolton-Maggs, Claire Booth, John R. Bradley, Angie Brady, Matthew Brown, Michael Browning, Christine Bryson, Siobhan Burns, Paul Calleja, Natalie Canham, Jenny Carmichael, Keren Carss, Mark Caulfield, Elizabeth Chalmers, Anita Chandra, Patrick Chinnery, Manali Chitre, Colin Church, Emma Clement, Naomi Clements-Brod, Virginia Clowes, Gerry Coghlan, Peter Collins, Nichola Cooper, Amanda Creaser-Myers, Rosa DaCosta, Louise Daugherty, Sophie Davies, John Davis, Minka De Vries, Patrick Deegan, Sri V.V. Deevi, Charu Deshpande, Lisa Devlin, Eleanor Dewhurst, Rainer Doffinger, Natalie Dormand, Elizabeth Drewe, David Edgar, William Egner, Wendy N. Erber, Marie Erwood, Tamara Everington, Remi Favier, Helen Firth, Debra Fletcher, Frances Flinter, James C. 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Carvill GL. Calcium channel dysfunction in epilepsy: Gain of CACNA1E (2019) Epilepsy currents PMID: 31064215

Cowley MJ, Liu YC, Oliver KL, Carvill G, Myers CT, Gayevskiy V, Delatycki M, Vlaskamp DRM, Zhu Y, Mefford H, Buckley MF, Bahlo M, Scheffer IE, Dinger ME, Roscioli T. Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection (2019) Hum Mutat. PMID: 30556619

Calhoun JD, Carvill GL  Unravelling the genetic architecture of autosomal recessive epilepsy in the genomic era.  J Neurogenet  2018 Sep 24;:1-18. doi:10.1080/01677063.2018.1513509

Lamar KJ, Carvill GL  Chromatin Remodeling Proteins in Epilepsy: Lessons From CHD2-Associated Epilepsy.  Front Mol Neurosci  2018;11:208. doi:10.3389/fnmol.2018.00208

1. Esterhuizen AI, Carvill GL, Ramesar RS, Kariuki SM, Newton CR, Poduri A, Wilmshurst JM  Clinical Application of Epilepsy Genetics in Africa: Is Now the Time?  Front Neurol  2018;9:276. doi:10.3389/fneur.2018.00276

1. Howell KB, Eggers S, Dalziel K, Riseley J, Mandelstam S, Myers CT, McMahon JM, Schneider A, Carvill GL, Mefford HC, , Scheffer IE, Harvey AS A population-based cost-effectiveness study of early genetic testing in severe epilepsies of infancy.  Epilepsia  2018 Jun;59(6):1177-1187. doi:10.1111/epi.14087

1. Myers CT, Hollingsworth G, Muir AM, Schneider AL, Thuesmunn Z, Knupp A, King C, Lacroix A, Mehaffey MG, Berkovic SF, Carvill GL, Sadleir LG, Scheffer IE, Mefford HC  Parental Mosaicism in “De Novo” Epileptic Encephalopathies.  N Engl J Med  2018 04 26;378(17):1646-1648. doi:10.1056/NEJMc1714579

1. Chatron N, Møller RS, Champaigne NL, Schneider AL, Kuechler A, Labalme A, Simonet T, Baggett L, Bardel C, Kamsteeg EJ, Pfundt R, Romano C, Aronsson J, Alberti A, Vinci M, Miranda MJ, Lacroix A, Marjanovic D, des Portes V, Edery P, Wieczorek D, Gardella E, Scheffer IE, Mefford H, Sanlaville D, Carvill GL, Lesca G  The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant.  Ann Neurol  2018 May;83(5):926-934. doi:10.1002/ana.25222

1. Johannesen KM, Gardella E, Linnankivi T, Courage C, de Saint Martin A, Lehesjoki AE, Mignot C, Afenjar A, Lesca G, Abi-Warde MT, Chelly J, Piton A, Merritt JL, Rodan LH, Tan WH, Bird LM, Nespeca M, Gleeson JG, Yoo Y, Choi M, Chae JH, Czapansky-Beilman D, Reichert SC, Pendziwiat M, Verhoeven JS, Schelhaas HJ, Devinsky O, Christensen J, Specchio N, Trivisano M, Weber YG, Nava C, Keren B, Doummar D, Schaefer E, Hopkins S, Dubbs H, Shaw JE, Pisani L, Myers CT, Tang S, Tang S, Pal DK, Millichap JJ, Carvill GL, Helbig KL, Mecarelli O, Striano P, Helbig I, Rubboli G, Mefford HC, Møller RS  Defining the phenotypic spectrum of SLC6A1 mutations.  Epilepsia  2018 02;59(2):389-402. doi:10.1111/epi.13986

Jansen S, Hoischen A, Coe BP, Carvill GL, Van Esch H, Bosch DGM, Andersen UA, Baker C, Bauters M, Bernier RA, van Bon BW, Claahsen-van der Grinten HL, Gecz J, Gilissen C, Grillo L, Hackett A, Kleefstra T, Koolen D, Kvarnung M, Larsen MJ, Marcelis C, McKenzie F, Monin ML, Nava C, Schuurs-Hoeijmakers JH, Pfundt R, Steehouwer M, Stevens SJC, Stumpel CT, Vansenne F, Vinci M, van de Vorst M, Vries P, Witherspoon K, Veltman JA, Brunner HG, Mefford HC, Romano C, Vissers LELM, Eichler EE, de Vries BBA  A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency.  Eur J Hum Genet  2018 01;26(1):54-63. doi:10.1038/s41431-017-0039-5

Carvill GL, Liu A, Mandelstam S, Schneider A, Lacroix A, Zemel M, McMahon JM, Bello-Espinosa L, Mackay M, Wallace G, Waak M, Zhang J, Yang X, Malone S, Zhang YH, Mefford HC, Scheffer IE  Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45.  Epilepsia  2018 01;59(1):e5-e13. doi:10.1111/epi.13957

Gertler T, Bearden D, Bhattacharjee A, Carvill G. KCNT1-Related Epilepsy. (2018) GeneReviews PMID: 30234941

Carvill GL, Engel KL, Ramamurthy A, Cochran JN, Roovers J, Stamberger H, Lim N, Schneider AL, Hollingsworth G, Holder DH, Regan BM, Lawlor J, Lagae L, Ceulemans B, Bebin EM, Nguyen J; EuroEPINOMICS Rare Epilepsy Syndrome, Myoclonic-Astatic Epilepsy, and Dravet Working Group, Barsh GS, Weckhuysen S, Meisler M, Berkovic SF, De Jonghe P, Scheffer IE, Myers RM, Cooper GM, Mefford HC. Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies (2018) Am J Hum Genet. PMID: 30526861

Carvill GL, Mefford HC  Next-Generation Sequencing in Intellectual Disability.  J Pediatr Genet  2015 Sep;4(3):128-35. doi:10.1055/s-0035-1564439

Djémié T, Weckhuysen S, von Spiczak S, Carvill GL, Jaehn J, Anttonen AK, Brilstra E, Caglayan HS, de Kovel CG, Depienne C, Gaily E, Gennaro E, Giraldez BG, Gormley P, Guerrero-López R, Guerrini R, Hämäläinen E, Hartmann C, Hernandez-Hernandez L, Hjalgrim H, Koeleman BP, Leguern E, Lehesjoki AE, Lemke JR, Leu C, Marini C, McMahon JM, Mei D, Møller RS, Muhle H, Myers CT, Nava C, Serratosa JM, Sisodiya SM, Stephani U, Striano P, van Kempen MJ, Verbeek NE, Usluer S, Zara F, Palotie A, Mefford HC, Scheffer IE, De Jonghe P, Helbig I, Suls A, Pitfalls in genetic testing: the story of missed SCN1A mutations.  Mol Genet Genomic Med  2016 Jul;4(4):457-64. doi:10.1002/mgg3.217

Rudolf G, Lesca G, Mehrjouy MM, Labalme A, Salmi M, Bache I, Bruneau N, Pendziwiat M, Fluss J, de Bellescize J, Scholly J, Møller RS, Craiu D, Tommerup N, Valenti-Hirsch MP, Schluth-Bolard C, Sloan-Béna F, Helbig KL, Weckhuysen S, Edery P, Coulbaut S, Abbas M, Scheffer IE, Tang S, Myers CT, Stamberger H, Carvill GL, Shinde DN, Mefford HC, Neagu E, Huether R, Lu HM, Dica A, Cohen JS, Iliescu C, Pomeran C, Rubenstein J, Helbig I, Sanlaville D, Hirsch E, Szepetowski P  Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy.  Eur J Hum Genet  2016 12;24(12):1761-1770. doi:10.1038/ejhg.2016.80

Carvill GL, Crompton DE, Regan BM, McMahon JM, Saykally J, Zemel M, Schneider AL, Dibbens L, Howell KB, Mandelstam S, Leventer RJ, Harvey AS, Mullen SA, Berkovic SF, Sullivan J, Scheffer IE, Mefford HC  Epileptic spasms are a feature of DEPDC5 mTORopathy.  Neurol Genet  2015 Aug;1(2):e17. doi:10.1212/NXG.0000000000000016

Hildebrand MS, Myers CT, Carvill GL, Regan BM, Damiano JA, Mullen SA, Newton MR, Nair U, Gazina EV, Milligan CJ, Reid CA, Petrou S, Scheffer IE, Berkovic SF, Mefford HC  A targeted resequencing gene panel for focal epilepsy.  Neurology  2016 Apr 26;86(17):1605-12. doi:10.1212/WNL.0000000000002608

Afawi Z, Oliver KL, Kivity S, Mazarib A, Blatt I, Neufeld MY, Helbig KL, Goldberg-Stern H, Misk AJ, Straussberg R, Walid S, Mahajnah M, Lerman-Sagie T, Ben-Zeev B, Kahana E, Masalha R, Kramer U, Ekstein D, Shorer Z, Wallace RH, Mangelsdorf M, MacPherson JN, Carvill GL, Mefford HC, Jackson GD, Scheffer IE, Bahlo M, Gecz J, Heron SE, Corbett M, Mulley JC, Dibbens LM, Korczyn AD, Berkovic SF  Multiplex families with epilepsy: Success of clinical and molecular genetic characterization.  Neurology  2016 Feb 23;86(8):713-22. doi:10.1212/WNL.0000000000002404

Lugtenberg D, Reijnders MR, Fenckova M, Bijlsma EK, Bernier R, van Bon BW, Smeets E, Vulto-van Silfhout AT, Bosch D, Eichler EE, Mefford HC, Carvill GL, Bongers EM, Schuurs-Hoeijmakers JH, Ruivenkamp CA, Santen GW, van den Maagdenberg AM, Peeters-Scholte CM, Kuenen S, Verstreken P, Pfundt R, Yntema HG, de Vries PF, Veltman JA, Hoischen A, Gilissen C, de Vries BB, Schenck A, Kleefstra T, Vissers LE  De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila.  Eur J Hum Genet  2016 08;24(8):1145-53. doi:10.1038/ejhg.2015.282

Møller RS, Heron SE, Larsen LH, Lim CX, Ricos MG, Bayly MA, van Kempen MJ, Klinkenberg S, Andrews I, Kelley K, Ronen GM, Callen D, McMahon JM, Yendle SC, Carvill GL, Mefford HC, Nabbout R, Poduri A, Striano P, Baglietto MG, Zara F, Smith NJ, Pridmore C, Gardella E, Nikanorova M, Dahl HA, Gellert P, Scheffer IE, Gunning B, Kragh-Olsen B, Dibbens LM  Mutations in KCNT1 cause a spectrum of focal epilepsies.  Epilepsia  2015 Sep;56(9):e114-20. doi:10.1111/epi.13071

Carvill GL, McMahon JM, Schneider A, Zemel M, Myers CT, Saykally J, Nguyen J, Robbiano A, Zara F, Specchio N, Mecarelli O, Smith RL, Leventer RJ, Møller RS, Nikanorova M, Dimova P, Jordanova A, Petrou S, , Helbig I, Striano P, Weckhuysen S, Berkovic SF, Scheffer IE, Mefford HC  Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures.  Am J Hum Genet  2015 May 07;96(5):808-15. doi:10.1016/j.ajhg.2015.02.016

Paemka L, Mahajan VB, Ehaideb SN, Skeie JM, Tan MC, Wu S, Cox AJ, Sowers LP, Gecz J, Jolly L, Ferguson PJ, Darbro B, Schneider A, Scheffer IE, Carvill GL, Mefford HC, El-Shanti H, Wood SA, Manak JR, Bassuk AG  Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase.  PLoS Genet  2015 Mar;11(3):e1005022. doi:10.1371/journal.pgen.1005022

Thomas RH, Zhang LM, Carvill GL, Archer JS, Heavin SB, Mandelstam SA, Craiu D, Berkovic SF, Gill DS, Mefford HC, Scheffer IE,   CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures.  Neurology  2015 Mar 03;84(9):951-8. doi:10.1212/WNL.0000000000001305

Larsen J, Carvill GL, Gardella E, Kluger G, Schmiedel G, Barisic N, Depienne C, Brilstra E, Mang Y, Nielsen JE, Kirkpatrick M, Goudie D, Goldman R, Jähn JA, Jepsen B, Gill D, Döcker M, Biskup S, McMahon JM, Koeleman B, Harris M, Braun K, de Kovel CG, Marini C, Specchio N, Djémié T, Weckhuysen S, Tommerup N, Troncoso M, Troncoso L, Bevot A, Wolff M, Hjalgrim H, Guerrini R, Scheffer IE, Mefford HC, Møller RS,   The phenotypic spectrum of SCN8A encephalopathy.  Neurology  2015 Feb 03;84(5):480-9. doi:10.1212/WNL.0000000000001211

Vulto-van Silfhout AT, Rajamanickam S, Jensik PJ, Vergult S, de Rocker N, Newhall KJ, Raghavan R, Reardon SN, Jarrett K, McIntyre T, Bulinski J, Ownby SL, Huggenvik JI, McKnight GS, Rose GM, Cai X, Willaert A, Zweier C, Endele S, de Ligt J, van Bon BW, Lugtenberg D, de Vries PF, Veltman JA, van Bokhoven H, Brunner HG, Rauch A, de Brouwer AP, Carvill GL, Hoischen A, Mefford HC, Eichler EE, Vissers LE, Menten B, Collard MW, de Vries BB  Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems.  Am J Hum Genet  2014 May 01;94(5):649-61. doi:10.1016/j.ajhg.2014.03.013

Carvill GL, Weckhuysen S, McMahon JM, Hartmann C, Møller RS, Hjalgrim H, Cook J, Geraghty E, O’Roak BJ, Petrou S, Clarke A, Gill D, Sadleir LG, Muhle H, von Spiczak S, Nikanorova M, Hodgson BL, Gazina EV, Suls A, Shendure J, Dibbens LM, De Jonghe P, Helbig I, Berkovic SF, Scheffer IE, Mefford HC  GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.  Neurology  2014 Apr 08;82(14):1245-53. doi:10.1212/WNL.0000000000000291

Martin HC, Kim GE, Pagnamenta AT, Murakami Y, Carvill GL, Meyer E, Copley RR, Rimmer A, Barcia G, Fleming MR, Kronengold J, Brown MR, Hudspith KA, Broxholme J, Kanapin A, Cazier JB, Kinoshita T, Nabbout R, , Bentley D, McVean G, Heavin S, Zaiwalla Z, McShane T, Mefford HC, Shears D, Stewart H, Kurian MA, Scheffer IE, Blair E, Donnelly P, Kaczmarek LK, Taylor JC  Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.  Hum Mol Genet  2014 Jun 15;23(12):3200-11. doi:10.1093/hmg/ddu030

Yu L, Bennett JT, Wynn J, Carvill GL, Cheung YH, Shen Y, Mychaliska GB, Azarow KS, Crombleholme TM, Chung DH, Potoka D, Warner BW, Bucher B, Lim FY, Pietsch J, Stolar C, Aspelund G, Arkovitz MS, , Mefford H, Chung WK  Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia.  J Med Genet  2014 Mar;51(3):197-202. doi:10.1136/jmedgenet-2013-101989

Mullen SA, Carvill GL, Bellows S, Bayly MA, Trucks H, Lal D, Sander T, Berkovic SF, Dibbens LM, Scheffer IE, Mefford HC  Copy number variants are frequent in genetic generalized epilepsy with intellectual disability.  Neurology  2013 Oct 22;81(17):1507-14. doi:10.1212/WNL.0b013e3182a95829

Carvill GL, Regan BM, Yendle SC, O’Roak BJ, Lozovaya N, Bruneau N, Burnashev N, Khan A, Cook J, Geraghty E, Sadleir LG, Turner SJ, Tsai MH, Webster R, Ouvrier R, Damiano JA, Berkovic SF, Shendure J, Hildebrand MS, Szepetowski P, Scheffer IE, Mefford HC  GRIN2A mutations cause epilepsy-aphasia spectrum disorders.  Nat Genet  2013 Sep;45(9):1073-6. doi:10.1038/ng.2727

Carvill GL, Heavin SB, Yendle SC, McMahon JM, O’Roak BJ, Cook J, Khan A, Dorschner MO, Weaver M, Calvert S, Malone S, Wallace G, Stanley T, Bye AM, Bleasel A, Howell KB, Kivity S, Mackay MT, Rodriguez-Casero V, Webster R, Korczyn A, Afawi Z, Zelnick N, Lerman-Sagie T, Lev D, Møller RS, Gill D, Andrade DM, Freeman JL, Sadleir LG, Shendure J, Berkovic SF, Scheffer IE, Mefford HC  Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.  Nat Genet  2013 Jul;45(7):825-30. doi:10.1038/ng.2646

Carvill GL, Mefford HC  Microdeletion syndromes.  Curr Opin Genet Dev  2013 Jun;23(3):232-9. doi:10.1016/j.gde.2013.03.004