Publications

Myers CT, Mefford HC^ (2015) Advancing epilepsy genetics in the genomic era. Genome Medicine 7:91

Mefford HC^, Zemel M, Geraghty E, Cook J, Clayton PT, Paul K, Plecko B, Mills PB, Nordli DR, Gospe SM (2015) Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination. Neurology (in press).

Carvill GL, Crompton DE, Regan BM, McMahon JM, Saykally J, Zemel M, Schneider AL, Dibbens L, Howell KB, Mandelstam S, Leventer FJ, Harvey AS, Mullen SA, Berkovic SF, Sullivan J, Scheffer IE, Mefford HC^ (2015) Epileptic spasms are a feature of DEPDC5 mTORopathy. Neurology: Genetics (in press).

Jones K, Schwarze U, Adam M, Byers PH, Mefford HC^ (2015) A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes. Am J Med Gen doi:10.1002/ajmg.a.37209 [Epub ahead of print].

Howell KB, McMahon JM, Carvill GL, Tambunan D, Mackay MT, Casero VR, Webster R, Clark D, Freeman JL, Calvert S, Olson HE, Mandelstam SA, Poduri A, Mefford HC, Harvey AS, Scheffer IE (2015) SCN2A encephalopathy: a major cause of epilepsy of infancy with migrating focal seizures. Neurology (in press).

Moller RS, Heron SE, Larsen LHG, Lim CX, Ricos MG, Bayly MA, van Kempen MJA, 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, Kargh-Olsen B, Dibbens LM (2015) Mutations in KCNT1 cause a spectrum of focal epilepsies. Epilepsia doi:10.1111/epi13701 [Epub ahead of print].

Bernier R, Steinman KJ, Reilly B, Wallace AS, Sherr EH, Pojman N, Mefford HC, Gerdts J, Earl R, Hanson E, Goin-Kochel RP, Berry L, Kanne S, Snyder LAG, Spence S, Ramocki MB, Evans DW, Spiro JE, Martin CL, Ledbetter DH, Chunk WK, Simons VIP Consortium (2015) Clinical phenotype of the recurrent 1q21.1 copy number variation. Genet Med doi: 10.1038/gim.2015.78 [epub ahead of print].

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, Euroepinomics RES, Helbig I, Striano P, Weckhuysen S, Berkovic SF, Scheffer IE, Mefford HC^. Mutations in the GABA transporter GAT-1 cause epilepsy with myoclonic astatic seizures. American Journal of Human Genetics 96:808-15.

Galizia EC#, Myers CT#, Leu C, de Kovel CGF, Afrikanova T, Cordero-Maldonado ML, Martins TG, Jacmin M, Drury S, Chinthapalli VK, Muhle H, Pendziwiat M, Sander T, Ruppert A-K. Moller RS, Thiele H, Krause R, Schubert J, Lehesjoki A-E, Nurnberg P, Lerche H, Palotie A, Coppola A, Striano S, Del Gaudio L, Boustred C, Schneider AL, Lench N, Jocic-Jakubi B, Covanis A, Capovilla G, Veggotti P, Piccioli M, Parisi P, Cantonetti L, Sadleir LG, Mullen SA, Berkovic SF, Stephani U, Helbig I, Crawford AD, Esguerra CV, Kasteleijn-Nolst Trenite DGA, Koeleman BPC, Mefford HC^, Scheffer IE, Sisodiya SM (2015) CHD2 variants are a risk factor for photosensitivity in epilepsy. Brain 138:1198-207.

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 S, Manak JR, Bassuk AG (2015) Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase. PLoS Genetics 11:e1005022. PMCID PMC4357451.

Epi4K Consortium & Epilepsy Phenome/Genome Project (2015) CNV analysis from exome data in 349 patients with epileptic encephalopathy. Annals of Neurology 78:323-8.

van Bon BW, Coe BP, Bernier R, Green C, Gerdts J, Witherspoon K, Kleefstra T, Willemsen MH, Kumar R, Bosco P, Fichera M, Li D, Amaral D, Cristofoli F, Peeters H, Haan E, Romano C, Mefford HC, Scheffer I, Gecz J, de Vries BB, Eichler EE. Disruptive de novo mutations in DYRK1A lead to a syndromic form of autism and ID (2015) Mol Psych doi:10.1038/mp.2015.5 [Epub ahead of print].

Hartmann C, von Spiczak S, Suls A, Weckhuysen S, Buyse G, Vilain C, Van Bogaert P, De Jonghe P, Cook J, Muhle H, Stephani U, Helbig I, Mefford HC^ (2015) Investigating the genetic basis of fever-associated syndromic epilepsies using copy number variation analysis. Epilepsia doi:10.1111/epi.12920 [Epub ahead of print].

Thomas RH, Zhang LM, Carvill GL, Archer JS, Heavin SB, Mandelstam SA, Craiu D, EuroEPINOMICS-RES Consortium, Berkovic SF, Gill DS, Mefford HC, Scheffer IE (2015) CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures. Neurology 84:951-8.

Larsen J, Carvill GL, Gardella E, Kluger G, Schmiedel G, Barisic N, Depienne C, Brilstra E, Mang Y, Nielsen JEK, 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 CGF, Marini C, Specchio N, Djémié T, Weckhuysen S, Tommerup N, Troncoso M, Troncoso L, EuroEPINOMICS RES CRP, Bevot A, Wolff M, Hjalgrim H, Guerrini R, Scheffer IE, Mefford HC^, Møller RS (2015) The phenotypic spectrum of SCN8A encephalopathy. Neurology 84:480-9.

EuroEPINOMICS-RES Consortium, Epilepsy Phenome/Genome Project, and Epi4K Consortium (2014) De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. Am J Hum Genet 95:360-70. PMCID PMC4185114.

Coe BP, Witherspoon K, Rosenfeld JA, van Bon BW, Vulto-van Silfhout AT, Bosco P, Friend KL, Baker C, Buono S, Vissers LE, Schuurs-Hoeijmakers JH, Hoischen A, Pfundt R, Krumm N, Carvill GL, Li D, Amaral D, Brown N, Lockhart PJ, Scheffer IE, Alberti A, Shaw M, Pettinato R, Tervo R, de Leeuw N, Reijnders MR, Torchia BS, Peeters H, Thompson E, O'Roak BJ, Fichera M, Hehir-Kwa JY, Shendure J, Mefford HC, Haan E, Gécz J, de Vries BB, Romano C, Eichler EE. (2014) Refining analyses of copy number variation identifies specific genes associated with developmental delay. Nat Genet 46:1063-71. PMCID: PMC4177294.

Mefford HC^ (2014) CNVs in epilepsy. Current Genetic Medicine Reports. 2:162-7.

Bernier R, Golzio C, Xiong B, Stessman H, Coe BP, Penn O, Witherspoon K, Gerdts J, Baker C, Vulto-van Silfhout AT, Schuurs-Hoeijmakers JH, Fichera M, Bosco P, Buono S, Alberti A, Failla P, Peeters H, Steyaert J, Vissers LELM, Francescatto L, Mefford HC, Rosenfeld JA, Bakken T, O’Roak BJ, Pawlus M, Moon R, Shendure J, Amaral DG, Lein E, Rankin J, Romano C, de Vries BBA, Katsanis N, Eichler EE (2014) Disruptive CHD8 mutations define a subtype of autism early in development. Cell 158:263-76. PMCID: PMC4136921.

Reinthaler EM, Lal D, Lebon S, Hildebrand MS, Dahl HH, Regan BM, Feucht M, Steinböck H, Neophytou B, Ronen GM, Roche L, Gruber-Sedlmayr U, Geldner J, Haberlandt E, Hoffmann P, Herms S, Gieger C, Waldenberger M, Franke A, Wittig M, Schoch S, Becker AJ, Hahn A, Männik K, Toliat MR, Winterer G; The 16p11.2 European Consortium, Lerche H, Nürnberg P, Mefford H, Scheffer IE, Berkovic SF, Beckmann JS; The EPICURE Consortium; The EuroEPINOMICS Consortium, Sander T, Jacquemont S, Reymond A, Zimprich F, Neubauer BA (2014) 16p11.2 600 kb Duplications Confer Risk for Typical and Atypical Rolandic Epilepsy. Hum Mol Gen 23:6069-80.

Watson CT, Marques-Bonet T, Sharp AJ, Mefford HC^ (2014) The genetics of microdeletion and microduplication syndromes: an update. Annu Rev Genomics Hum Genet 15:215-44.

Michaud JL, Lachance M, Hamdan FF, Carmant L, Lortie A, Diadori P, Major P, Meijer IA, Lemyre E, Cossette P, Mefford HC, Rouleau GA, Rossignol E. (2014) The genetic landscape of infantile spasms. Hum Molec Genet 23:4846-58.

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 (2014) Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems. Am J Hum Genet 94:649-61.

Martin HC, Kim GE, Pagnamenta AT, Murakami Y, Carvill G, Meyer E, Copley RR, Rimmer A, Barcia G, Fleming M, Kronengold J, Brown MR, Hudspith KA, Broxholme J, Kanapin A, Cazier JB, Kinoshita T, Nabbout R; The WGS500 Consortium, Bentley D, McVean G, Heavin S, Zaiwalla Z, McShane T, Mefford H, Shears D, Stewart H, Kurian MA, Scheffer IE, Blair E, Donnelly P, Kaczmarek LK, Taylor JC. (2014) Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis. Hum Mol Genet 23:3200-11. PMCID: PMC4030775.

Carvill GL, Weckhuysen S, McMahon JM, Hartmann C, Moller 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, Gazina EV, Suls A, Shendure J, De Jonghe P, Helbig I, Berkovic SF, Scheffer IE, Mefford HC^ (2013) GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. Neurology

Jähn JA, von Spiczak S, Muhle H, Obermeier T, Franke A, Mefford HC, Stephani U, Helbig I. (2013) Iterative phenotyping of 15q11.2, 15q13.3 and 16p13.11 microdeletion carriers in pediatric epilepsies. Epilepsy Res 108:109-16.

Yu L#, Bennet JT#, Wynn J, Carvill GL, Cheunt Y, Shen Y, Mychaliska G, Azarow K, Crombleholme T, Chung D, Potoka D, Warner B, Bucher B, Stolar C, Aspelund G, Arkovitz M, Mefford HC^, Chung WK^ (2013) Whole Exome Sequencing Identifies de Novo Mutations in GATA6 Associated with Congenital Diaphragmatic Hernia. J Medical Genetics doi: 10.1136/jmedgenet-2013-101989.

Paemka L, Mahajan VB, Skeie JM, Sowers LP, Ehaideb SN, Gonzalez-Alegre P, Sasaoka T, Tao H, Miyagi A, Ueno N, Takao K, Miyakawa T, Wu S, Darbro BW, Ferguson PJ, Pieper AA, Britt JK, Wemmie JA, Rudd DS, Wassink T, El-Shanti H, Mefford HC, Carvill GL, Manak JR, Bassuk AG. PRICKLE1 interaction with SYNAPSIN I reveals a role in Autism Spectrum Disorders. PLoS ONE 8:e80737. PMCID: PMC3849077.

Abrahams BS, Arking DE, Campbell DB, Mefford HC, Morrow EM, Weiss LA, Menashe I, Wadkins T, Banerjee-Basu S, Packer A (2013) SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs). Mol Autism 4:36.

Chen DH, Naydenov A, Blankman JL, Mefford HC, Davis M, Sul Y, Barloon AS, Bonkowski E, Wolff J, Matsushita M, Smith C, Cravatt BF, Mackie K, Raskind WH, Stella N, Bird TD (2013) Two novel mutations in ABHD12: Expansion of the mutation spectrum in PHARC and assessment of their functional effects. Human Mutation 34:1672-8.

Mullen SA#, Carvill GL#, Bellows S, Bayly MA, Trucks H, Lal D, Sander T, Berkovic SF, Dibbens LM, Scheffer IE, Mefford HC^ (2013) Copy number variants are frequent in genetic generalized epilepsy with intellectual disability. Neurology 81:1507-14.

Carvill GL, Regan BM, Yendle SC, O’Roak BJ, Lozovaya N, Bruneau N, Burnashev N, Khan A, Cook J, Sadleir LG, Turner SJ, Tsai MH, Webster R, Ouvrier R, Damiano J, Berkovic SF, Shendure J, Hildebrand M, Szepetowski P, Scheffer IE, Mefford HC^ (2013) GRIN2A mutations cause epilepsy-aphasia spectrum disorders. Nature Genetics 45:1073-6. PMCID: PMC3868952.

Epi4K Consortium; Epilepsy Phenome/Genome Project, Allen AS, Berkovic SF, Cossette P, Delanty N, Dlugos D, Eichler EE, Epstein MP, Glauser T, Goldstein DB, Han Y, Heinzen EL, Hitomi Y, Howell KB, Johnson MR, Kuzniecky R, Lowenstein DH, Lu YF, Madou MR, Marson AG, Mefford HC, Esmaeeli Nieh S, O'Brien TJ, Ottman R, Petrovski S, Poduri A, Ruzzo EK, Scheffer IE, Sherr EH, Yuskaitis CJ, Abou-Khalil B, Alldredge BK, Bautista JF, Berkovic SF, Boro A, Cascino GD, Consalvo D, Crumrine P, Devinsky O, Dlugos D, Epstein MP, Fiol M, Fountain NB, French J, Friedman D, Geller EB, Glauser T, Glynn S, Haut SR, Hayward J, Helmers SL, Joshi S, Kanner A, Kirsch HE, Knowlton RC, Kossoff EH, Kuperman R, Kuzniecky R, Lowenstein DH, McGuire SM, Motika PV, Novotny EJ, Ottman R, Paolicchi JM, Parent JM, Park K, Poduri A, Scheffer IE, Shellhaas RA, Sherr EH, Shih JJ, Singh R, Sirven J, Smith MC, Sullivan J, Lin Thio L, Venkat A, Vining EP, Von Allmen GK, Weisenberg JL, Widdess-Walsh P, Winawer MR. (2013) De novo mutation in epileptic encephalopathies. Nature 501:217-21. PMCID: PMC3773011.

Helbig I, Hartmann C, Mefford HC (2013) The unexpected role of copy number variations in junvenile myoclonic epilepsy. Epilepsy & Behavior 28 Suppl1:S66-8.

Carvill GL, Heavin SB, Yendle SC, McMahon JM, O’Roak BJ, Cook J, Khan A, Dorschner MO, Weaver M, Calvery S, Malone S, Wallace G, Stanley T, Bye AME, Bleasel A, Howell KB, Kivity S, Mackey 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^ (2013) Targeted resequencing in epileptic encephalopathies reveals marked genetic heterogeneity and novel genes including CHD2 and SYNGAP1. Nature Genetics 45:825-30. PMCID: PMC3704157.

Carvill GL, Mefford HC^ (2013) Microdeletion syndromes. Curr Opin Genet Dev 23:232-9.

Bassuk AG, Geraghty E, Wu S, Mullen SA, Berkovic SF, Scheffer IE, Mefford HC^ (2013) Deletions of 16p11.2 and 19p13.2 in a family with intellectual disability and generalized epilepsy. Am J Medical Genetics 161:1722-5.

Kirov A, Dimova P, Todrova A, Mefford H, Todorov T, saraylieva G, Bojinova V, Mitev V, Helbig I (2013) 15q13.3. microdeletions in a prospectively recruited cohort of patients with idiopathic generalized epilepsy in Bulgaria. Epilepsy Research 104:241-5.

McMillin MJ, Below JE, Shively KM, Beck AE, Gildersleeve HI, Pinner J, Gogola GR, Hecht JT, Grange DK, Harris DJ, Earl DL, Jagadeesh S, Mehta SG, Robertson SP, Swanson JM, Faustman EM, Mefford HC, Shendure J, Nickerson DA, Bamshad MJ; the University of Washington Center for Mendelian Genomics (2012) Mutations in ECEL1 cause distal arthrogryposis type 5D. American Journal of Human Genetics 92:150-6. PMCID: PMC3542461.

Møller RS, Weber YG, Klitten LL, Trucks H, Muhle H, Kunz WS, Mefford HC, Franke A, Kautza M, Wolf P, Dennig D, Schreiber S, Rückert I, Wichmann H, Ernst JP, Tommerup N, Stephani U, Lerche H, Hjalgrim H, Helbig, Sander T, EPICURE Consortium (2012) Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy. Epilepsia 54:256-64.

O’Roak BJ, Vives L, Fu W, Egertson JD, Stanaway IB, Phelps IG, Carvill GL, Kumar K, Lee C, Ankenman K, Munson J, Hiatt JB, Turner EH, Levy R, O’Day DR, Krumm N, Coe BP, Martin BK, Borenstein E, Nickerson DA, Mefford HC, Doherty D, Akey JM, Bernier R, Eichler EE, Shendure J (2012) Massively multiplex targeted sequencing identified genes recurrently disrupted in autism spectrum disorders. Science 338:1619-22. PMCID: PMC3528801.

Tucci A, Kara E, Schossig A, Wolf NI, Plagnol V, Fawcett K, Paisán-Ruiz C, Moore M, Hernandez D, Musumeci S, Tennison M, Hennekam R, Palmeri S, Malandrini A, Raskin S, Donnai D, Hennig C, Tzschach A, Hordijk R, Bast T, Wimmer K, Lo C-N, Shorvon S, Mefford HC, Eichler EE, Hall R, Hayes I, Hardy J, Singleton A, Zschocke J, Houlden H (2012) Kohlschutter-Tonz syndrome: Mutations in ROGDI and evidence of genetic heterogeneity. Human Mutation 34:296-300.

Epi4K Consortium (2012) Epi4K: Gene Discovery in 4,000 genomes. Epilepsia 53:1457-67. PMCID: PMC3418423.

Mefford HC, Cook J, Gospe SM (2012) Epilepsy Due to 20q13.33 Subtelomere Deletion Masquerading as Pyridoxine-Dependent Epilepsy. Am J Med Genet 158A:3190-5.

Mefford HC^, Batshaw ML, Hoffman EP (2012) Genomics, Intellectual Disability and Autism. New England Journal of Medicine 366:733-43.

Mefford HC, Shur N, Rosenfeld J (2012) 15q24 Microdeletion. In GeneReviews at GeneTests: Medical Genetics Information Resource. Copyright, University of Washington, Seattle, 1997-2011. Available at http://www.genetests.org.

Hing AV, Mefford HC, Cunningham ML (2012) New development in genetic diagnosis: implications for the craniofacial surgeon. J Craniofac Surg 23:212-6.

Bachmann-Gagescu R, Ishak GE, Dempsey J, Adkins J, O’Day D, Phelps IG, Gunay-Aygun M, Kline AD, Szczaluba K, Martorell L, Alswaid A, Alrasheed S, Pai S, Izatt L, Ronan A, Parisi MA, Mefford HC, Glass I, Doherty D (2012) Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures. J Med Genet 49:126-37.

Mefford HC^, Rosenfeld JA, Shur N, Slavotinek AM, Cox VA, Hennekam RC, Firth HV, Willatt L, Wheeler P, Morrow EM, Cook J, Sullivan R, Oh A, McDonald MT, Zonana J, Keller K, Hannibal MC, Ball S, Kussmann J, Gorski J, Zelewski S, Banks V, Smith W, Smith R, Paull L, Rosenbaum KN, Amor DJ, Silva J, Lamb A, Eichler EE (2011) Further clinical and molecular delineation of the 15q24 microdeletion syndrome. J Med Genet 49:110-8. PMCID: PMC3261729

*Mefford HC^, Yendle SC, Hsu C, Cook J, Geraghty E, McMahon JM, Eeg-Olofsson O, Sadleir LG, Gill D, Ben-Zeev B, Lerman-Sagie T, Mackay M, Freeman JL, Andermann E, Pelakanos J, Andrews I, Wallace G, Eichler EE, Berkovic SF, Scheffer IE (2011) Rare copy number variants are an important cause of epileptic encephalopathies. Annals of Neurology 70:974-85. PMCID: PMC3245646

Muhle H, Mefford HC, Obermeier T, von Spiczak S, Eichler EE, Stephani U, Sander T, Helbig I (2011) Absence Seizures with Intellectual Disability as a phenotype of the 15q13.3 microdeletion syndrome. Epilepsia 52:e194-8.

Hannibal MC, Buckingham KJ, Ng SB, Ming JE, Beck AE, McMillan MJ, Gildersleeve HI, Bigham AW, Tabor HK, Mefford HC, Cook J, Yoshiura K, Matsumoto T, Matsumoto N, Miyake N, Tonoki H, Naritomi K, Kaname T, Nagai T, Ohashi H, Juosawa K, Hou J, Ohta T, Liang D, Sudo A, Morris CA, Banka S, Black GC, Clayton-Smith J, Nickerson DA, Zackai EH, Shaikh TH, Donnai D, Niikawa N, Shendure J, Bamshad MJ (2011) Spectrum of MLL2 (ALR) Mutations in 110 Cases of Kabuki Syndrome. Am J Med Gen 155A:1511-6. PMCID: PMC3121928

Carranza Rojo D, Hamiwka L, McMahon JM, Dibbens LM, Arsov T, Suls A, Stodberg T, Kelley K, Wirrell EC, Appleton B, Mackay MT, Freeman JL, Yendle SC, Berkovic SF, Bienvenu T, De Jonghe P, Thorburn DR, Mulley JC, Mefford HC, Scheffer IE (2011) De Novo SCN1A mutations in Migrating Partial Seizures of Infancy. Neurology 77:380-3. PMCID: PMC3140798

Sisodiya SM, Mefford HC (2011) Genetic contribution to the complex epilepsies. Curr Opin Neurol. Epub 19 Jan 2011.

Mulley JC, Mefford HC (2011) Epilepsy and the New Cytogenetics. Epilepsia Epub 26 Jan 2011.

van Bon BWM, Mefford HC, de Vries BBA (2010) 15q13.3 Microdeletion. In GeneReviews at GeneTests: Medical Genetics Information Resource (http://www.genetests.org). Copyright University of Washington, Seattle. 1997-2011.

Mefford HC^, Mulley JC (2010) Genetically complex epilepsies, copy number variants and syndrome constellations. Genome Medicine 2:71. PMCID: PMC2988446.

Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, Beck AE, Tabor HK, Cooper GM, Mefford HC, Lee C, Turner EH, Smith JD, Rieder MJ, Yoshiura K, Matsumoto N, Ohta T, Niikawa N, Nickerson DA, Bamshad MJ, Shendure J (2010) Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nature Genetics 42:790-3. PMCID: PMC2930028.

Bachmann-Gagescu R*, Mefford HC*^, Cowan C, Glew GM, Hing AV, Wallace S, Bader PI, Hamati A, Reitnauer PJ, Smith R, Stockton SW, Muhle H, Helbig I, Eichler EE, Ballif BC, Rosenfeld J, Tsuchiya KD (2010) Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity. Genetics in Medicine 12:641-7

Mefford HC^, Muhle H, Ostertag P, von Spiczak S, Buysse K, Baker C, Franke A, Malafosse A, Genton P, Thomas P, Gurnett CA, Schreiber S, Bassuk AG, Guipponi M, Stephani U, Helbig I, Eichler EE. (2010) Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies. PLoS Genetics 6:e1000962. PMCID: PMC2873910.

Mefford HC^, Shafer N, Antonacci F, Tsai JM, Park SS, Hing AV, Rieder MJ, Smyth MD, Speltz ML, Eichler EE, Cunningham ML (2010) Copy number variation analysis in single suture craniosynostosis reveals RUNX2 duplication in two cousins with metopic craniosynostosis. Am J Med Genet 152A:2203-10.

Girirajan S, Rosenfeld JA, Cooper GM, Antonacci F, Siswara P, Itsara A, Vives L, Walsh, T McCarthy SE, Baker C, Mefford HC, Kidd JM, et al. (2010) A recurrent 16p12.1 microdeletion suggests a two-hit model for severe developmental delay. Nat Genet (in press).

Mefford HC. (2009) Genotype to phenotype discovery and characterization of novel genomic disorders in a genotype-first era. Genetics in Medicine 11:836-42.

Collie A, Landsverk M, Ruzzo E, Mefford H, Buysse K, Adkins J, Knutzen D, Barnett K, Brown R Jr, Parry G, Yum S, Simpson D, Olney R, Chinnery P, Eichler E, Chance P, Hannibal M. (2009) Non-recurrent SEPT9 duplications cause Hereditary Neuralgic Amyotrophy. J Med Genet [Epub ahead of print 2009 Nov 25].

de Kovel CG, Trucks H, Helbig I, Mefford HC, Baker C, Leu C, Kluck C, Muhle H, von Spiczak S, Ostertag P, Obermeier T, et al. (2009) Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain. [Epub ahead of print 2009 Oct 20].

Dibbens LM, Mullen S, Helbig I, Mefford HC, Bayly MA, Bellows S, Leu C, Trucks H, Obermeier T, Wittig M, Franke A, Caglayan H, Yapici Z; EPICURE Consortium, Sander T, Eichler EE, Scheffer IE, Mulley JC, Berkovic SF (2009) Familial and sporadic 15q13.3 microdeletions in Idiopathic Generalized Epilepsy: Precedent for Disorders with Complex Inheritance. Human Molecular Genetics 18:3626-31.

Mefford HC, Cooper GM, Zerr T, Smith J, Baker C, Shafer N, Thorland E, Skinner C, Schwartz CE, Nickerson DA, Eichler EE (2009) A high-throughput and cost-effective method for CNV genotyping Genome Research 19:1579-85.

Mefford HC, Eichler EE (2009) Duplication Hotspots, Rare Genomic Disorders and Common Disease. Current Opinion in Genetics & Development 19:196-204.

van Bon BWM, Mefford HC, Menten B, Koolen DA, Sharp AJ, Nillesen WM, Innis JW, de Ravel TJL, Mercer C, Fichera M, Stewart H, Connell LE, Ounap K, Castle B, et al. (2009) Further delineation of the 15q13 micro-deletion and duplication syndrome: A clinical spectrum varying from non-pathogenic to a severe outcome. Journal of Medical Genetics 46:511-23.

Itsara A, Cooper GM, Baker C, Girirajan S, Li J, Absher D, Krauss RM, Myers RM, Ridker PM, Chasman DI, Mefford H, Ying P, Nickerson DA, Eichler EE (2009) Population analysis of large copy number variants and hotspots of human genetic disease. American Journal of Human Genetics 84:148-61.

Sparkes RL, Shetty S, Chernos JE, Mefford HC, Micheil Innes A. (2009) Interstitial deletion of 11q in a mother and fetus: implications of directly transmitted chromosomal imbalances for prenatal genetic counseling. Prenatal Diagnosis 29:283-6.

Landsverk ML, Ruzzo EK, Mefford HC, Buysse K, Buchan JG, Eichler EE, Petty EM, Peterson EA, Knutzen DM, Barnett K, Farlow MR, Caress J, Parry GJ, Quan D, Gardner KL, Hong M, Simmons Z, Bird TD, Chance PF, Hannibal MC (2008) Duplication within the SEPT9 gene associated with a founder effect in North American families with Hereditary Neuralgic Amyotrophy. Human Molecular Genetics 18:1200-8.

KL, Hong M, Simmons Z, Bird TD, Chance PF, Hannibal MC (2008) Duplication within the SEPT9 gene associated with a founder effect in North American families with Hereditary Neuralgic Amyotrophy. Human Molecular Genetics 18:1200-8. PMCID: PMC2722193.

Helbig I, Mefford HC, Sharp AJ, Guipponi M, Fichera M, Franke A, Muhle H, de Kovel C, Baker C, von Spiczak S, Kron KL, Steinich I, Kleefuß-Lie AA, Leu C, Gaus V, Schmitz B, Klein KM, Reif PS, Rosenow F, Weber Y, Lerche H, Zimprich F, Urak L, Fuchs K, Feucht M, Genton P, Thomas P, Visscher F, de Haan G, Møller RS, Hjalgrim H, Luciano D, Wittig M, Nothnagel M, Elger CE, Nuernberg P, Romano C, Malafosse A, Koeleman BPC, Lindhout D, Stephani U, Schreiber D, Eichler EE, Sander T (2009) 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nature Genetics 41:160-2.

Mefford HC, Sharp AJ, Baker C, Itsara A, Jiang Z, Buysse K, Huang S, Maloney VK, Crolla JA, Baralle D, Collins A, Mercer C, Norga K, de Ravel T, et al. (2008) Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. New England Journal of Medicine 359: 1685-99.

Sharp AJ, Mefford HC, Li KE, Broomer AJ, Wang Y, Xiao C, Barbacioru C, Baker C, Skinner C, Stevenson RE, Schroer R, Novara F, De Gregori M, Ciccone R, Gimelli G, Bernardina BD, Torniero C, Giorda R, Regan R, Murday V, Mansour S, Fichera M, Castiglia L, Failla P, Cooper GM, Knight SJL, Romano C, Zuffardi O, Chen C, Schwartz C, Eichler EE (2008) A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nature Genetics 40:322-8.

Hannes F, Sharp AJ, Mefford HC, de Ravel T, Ruivenkamp CA, Breuning MH, Fryns J-P, Devriendt K, Van Buggenhout G, Vogels A, Stewart H, Hennekam RC, Cooper GM, Regan R, Knight JSL, Eichler EE, Vermeesch JR. (2009) Recurrent reciprocal deletions and duplications of 16p13.11: The deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant. Journal of Medical Genetics 46:223-32 [Epub 2008 Jun 11].

Mefford HC, Clauin S, Sharp AJ, Moller RS, Ullman R, Kapur R, Pinkel D, Cooper GM, Ropers HH, Tommerup N, Eichler EE, Bellanne-Chantelot C. (2007) Recurrent reciprocal genomic rearrangements of 17q12 are involved in renal disease, diabetes and epilepsy. American Journal of Human Genetics 81:1057-69.

Gygi MP, Ferguson MD, Mefford HC, Lund KP, O'Day C, Zhou P, Friedman C, van den Engh G, Stolowitz ML, Trask BJ. (2002) Use of fluorescent sequence-specific polyamides to discriminate human chromosomes by microscopy and flow cytometry. Nucleic Acids Research 30:2790-2799. PMCID: PMC117061.

Mefford HC, Trask BJ. (2002) The complex structure and dynamic evolution of human subtelomeres. Nature Reviews Genetics 3:91-102.

Linardopoulou E*, Mefford HC*, Nguyen O, Friedman C, van den Engh G, Farwell DG, Coltrera M, Trask BJ. (2001) Transcriptional activity of multiple copies of a subtelomerically located olfactory receptor gene that is polymorphic in number and location. Human Molecular Genetics 10:2373-2383.

Mefford HC*, Linardopoulou E, Coil D, van den Engh G, Trask BJ. (2001) Comparative sequencing of a multicopy subtelomeric region containing olfactory receptor genes reveals multiple interactions between non-homologous chromosomes. Human Molecular Genetics 10:2363-2372.

Mefford HC, Baumbach L, Panguluri RC, Whitfield-Broome C, Szabo C, Smith S, King MC, Dunston G, Stoppa-Lyonnet D, Arena F. (1999) Evidence for a BRCA1 founder mutation in families of West African ancestry. American Journal of Human Genetics 65:575-578. PMCID: PMC1377959.

Mefford H, van den Engh G, Friedman C, Trask BJ. (1997) Analysis of the variation in chromosome size among diverse human populations by bivariate flow karyotyping. Human Genetics 100:138-144.

Schubert EL, Lee MK, Mefford HC, Argonza RH, Morrow JE, Hull J, Dann JL, King MC. (1997) BRCA2 in American families with four or more cases of breast or ovarian cancer: recurrent and novel mutations, variable expression, penetrance, and the possibility of families whose cancer is not attributable to BRCA1 or BRCA2. American Journal of Human Genetics 60:1031-1040. PMCID: PMC1712449.

Schubert EL, Mefford HC, Dann JL, Argonza RH, Hull J, King MC. (1997) BRCA1 and BRCA2 mutations in Ashkenazi Jewish families with breast and ovarian cancer. Genetic Testing 1:41-46.

Trask BJ, Mefford H, van den Engh G, Massa HF, Juyal RC, Potocki L, Finucane B, Abuelo DN, Witt DR, Magenis E, Baldini A, Greenberg F, Lupski JR, Patel PI. (1996) Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients. Human Genetics 98:710-718.