Heather Mefford, M.D., Ph.D. - Publications

Affiliations: 
Genome Sciences University of Washington, Seattle, Seattle, WA 

118 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2019 Beighley JS, Hudac CM, Arnett AB, Peterson JL, Gerdts J, Wallace AS, Mefford HC, Hoekzema K, Turner TN, O'Roak BJ, Eichler EE, Bernier RA. Clinical Phenotypes of Carriers of Mutations in CHD8 or Its Conserved Target Genes. Biological Psychiatry. PMID 31526516 DOI: 10.1016/j.biopsych.2019.07.020  0.56
2019 Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, ... ... Mefford HC, et al. AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders. Nature Communications. 10: 3094. PMID 31300657 DOI: 10.1038/s41467-019-10910-w  0.56
2018 Carapito R, Ivanova EL, Morlon A, Meng L, Molitor A, Erdmann E, Kieffer B, Pichot A, Naegely L, Kolmer A, Paul N, Hanauer A, Tran Mau-Them F, Jean-Marçais N, Hiatt SM, ... ... Mefford HC, et al. ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. American Journal of Human Genetics. PMID 30639322 DOI: 10.1016/j.ajhg.2018.12.007  0.56
2018 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, ... ... Mefford HC, et al. Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies. American Journal of Human Genetics. 103: 1022-1029. PMID 30526861 DOI: 10.1016/j.ajhg.2018.10.023  0.56
2018 Mulhern MS, Stumpel C, Stong N, Brunner HG, Bier L, Lippa N, Riviello J, Rouhl RPW, Kempers M, Pfundt R, Stegmann APA, Kukolich MK, Telegrafi A, Lehman A, ... ... Mefford HC, et al. NBEA: developmental disease gene with early generalized epilepsy phenotypes. Annals of Neurology. PMID 30269351 DOI: 10.1002/ana.25350  0.56
2017 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, ... ... Mefford HC, et al. A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency. European Journal of Human Genetics : Ejhg. PMID 29209020 DOI: 10.1038/s41431-017-0039-5  0.56
2017 Siper PM, De Rubeis S, Trelles MDP, Durkin A, Di Marino D, Muratet F, Frank Y, Lozano R, Eichler EE, Kelly M, Beighley J, Gerdts J, Wallace AS, Mefford HC, Bernier RA, et al. Prospective investigation of FOXP1 syndrome. Molecular Autism. 8: 57. PMID 29090079 DOI: 10.1186/s13229-017-0172-6  0.56
2017 Earl RK, Turner TN, Mefford HC, Hudac CM, Gerdts J, Eichler EE, Bernier RA. Clinical phenotype of ASD-associated DYRK1A haploinsufficiency. Molecular Autism. 8: 54. PMID 29034068 DOI: 10.1186/s13229-017-0173-5  0.56
2016 de Lange IM, Helbig KL, Weckhuysen S, Møller RS, Velinov M, Dolzhanskaya N, Marsh E, Helbig I, Devinsky O, Tang S, Mefford HC, Myers CT, van Paesschen W, Striano P, van Gassen K, et al. De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy. Journal of Medical Genetics. PMID 27358180 DOI: 10.1136/jmedgenet-2016-103909  0.56
2016 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, ... ... Mefford HC, et al. Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy. European Journal of Human Genetics : Ejhg. PMID 27352968 DOI: 10.1038/ejhg.2016.80  0.56
2016 Meisler MH, Helman G, Hammer MF, Fureman BE, Gaillard WD, Goldin AL, Hirose S, Ishii A, Kroner BL, Lossin C, Mefford HC, Parent JM, Patel M, Schreiber J, Stewart R, et al. SCN8A encephalopathy: Research progress and prospects. Epilepsia. PMID 27270488 DOI: 10.1111/epi.13422  0.56
2016 Helbig I, Heinzen EL, Mefford HC. Primer Part 1-The building blocks of epilepsy genetics. Epilepsia. PMID 27226047 DOI: 10.1111/epi.13381  0.56
2016 Petrovski S, Küry S, Myers CT, Anyane-Yeboa K, Cogné B, Bialer M, Xia F, Hemati P, Riviello J, Mehaffey M, Besnard T, Becraft E, Wadley A, Politi AR, Colombo S, ... ... Mefford HC, et al. Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. American Journal of Human Genetics. PMID 27108799 DOI: 10.1016/j.ajhg.2016.03.011  0.56
2016 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. PMID 27029629 DOI: 10.1212/WNL.0000000000002608  0.56
2016 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, ... ... Mefford HC, et al. Multiplex families with epilepsy: Success of clinical and molecular genetic characterization. Neurology. PMID 26802095 DOI: 10.1212/WNL.0000000000002404  0.56
2016 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, et al. De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila. European Journal of Human Genetics : Ejhg. PMID 26757981 DOI: 10.1038/ejhg.2015.282  0.56
2015 Ba W, Yan Y, Reijnders MR, Schuurs-Hoeijmakers JH, Feenstra I, Bongers EM, Bosch DG, de Leeuw N, Pfundt R, Gilissen C, de Vries PF, Veltman JA, Hoischen A, Mefford HC, Eichler EE, et al. TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function. Human Molecular Genetics. PMID 26721934 DOI: 10.1093/hmg/ddv618  0.56
2015 Dejanovic B, Djémié T, Grünewald N, Suls A, Kress V, Hetsch F, Craiu D, Zemel M, Gormley P, Lal D, Myers CT, Mefford HC, Palotie A, Helbig I, et al. Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy. Embo Molecular Medicine. PMID 26613940 DOI: 10.15252/emmm.201505323  0.56
2015 Damiano JA, Mullen SA, Hildebrand MS, Bellows ST, Lawrence KM, Arsov T, Dibbens L, Major H, Dahl HH, Mefford HC, Darbro BW, Scheffer IE, Berkovic SF. Evaluation of multiple putative risk alleles within the 15q13.3 region for genetic generalized epilepsy. Epilepsy Research. 117: 70-3. PMID 26421493 DOI: 10.1016/j.eplepsyres.2015.09.007  0.56
2015 Mitchell E, Douglas A, Kjaegaard S, Callewaert B, Vanlander A, Janssens S, Lawson Yuen A, Skinner C, Failla P, Alberti A, Avola E, Fichera M, Kibaek M, Digilio MC, Hannibal MC, ... ... Mefford HC, et al. Recurrent duplications of 17q12 associated with variable phenotypes. American Journal of Medical Genetics. Part A. PMID 26420380 DOI: 10.1002/ajmg.a.37351  0.56
2015 Van Dijck A, van der Werf IM, Reyniers E, Scheers S, Azage M, Siefkas K, Van der Aa N, Lacroix A, Rosenfeld J, Argiropoulos B, Davis K, Innes AM, Mefford HC, Mortier G, Meuwissen M, et al. Five patients with a chromosome 1q21.1 triplication show macrocephaly, increased weight and facial similarities. European Journal of Medical Genetics. 58: 503-508. PMID 26327614 DOI: 10.1016/j.ejmg.2015.08.004  0.56
2015 Mefford HC. Clinical Genetic Testing in Epilepsy. Epilepsy Currents / American Epilepsy Society. 15: 197-201. PMID 26316867 DOI: 10.5698/1535-7511-15.4.197  0.56
2015 Mefford HC. Copy Number Matters in Epilepsy. Epilepsy Currents / American Epilepsy Society. 15: 180-2. PMID 26316861 DOI: 10.5698/1535-7511-15.4.180  0.56
2015 Myers CT, Mefford HC. Advancing epilepsy genetics in the genomic era. Genome Medicine. 7: 91. PMID 26302787 DOI: 10.1186/s13073-015-0214-7  0.56
2015 Howell KB, McMahon JM, Carvill GL, Tambunan D, Mackay MT, Rodriguez-Casero V, Webster R, Clark D, Freeman JL, Calvert S, Olson HE, Mandelstam S, Poduri A, Mefford HC, Harvey AS, et al. SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures. Neurology. PMID 26291284 DOI: 10.1212/WNL.0000000000001926  0.56
2015 Mefford HC, Zemel M, Geraghty E, Cook J, Clayton PT, Paul K, Plecko B, Mills PB, Nordli DR, Gospe SM. Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination. Neurology. 85: 756-62. PMID 26224730 DOI: 10.1212/WNL.0000000000001883  0.56
2015 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, et al. Mutations in KCNT1 cause a spectrum of focal epilepsies. Epilepsia. PMID 26122718 DOI: 10.1111/epi.13071  0.56
2015 Jones KL, Schwarze U, Adam MP, Byers PH, Mefford HC. A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes. American Journal of Medical Genetics. Part A. PMID 26086840 DOI: 10.1002/ajmg.a.37209  0.56
2015 Lal D, Ruppert AK, Trucks H, Schulz H, de Kovel CG, Kasteleijn-Nolst Trenité D, Sonsma AC, Koeleman BP, Lindhout D, Weber YG, Lerche H, Kapser C, Schankin CJ, Kunz WS, Surges R, et al. Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies. Plos Genetics. 11: e1005226. PMID 25950944 DOI: 10.1371/journal.pgen.1005226  0.56
2015 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, ... ... Mefford HC, et al. Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures. American Journal of Human Genetics. 96: 808-15. PMID 25865495 DOI: 10.1016/j.ajhg.2015.02.016  0.56
2015 Galizia EC, Myers CT, Leu C, de Kovel CG, Afrikanova T, Cordero-Maldonado ML, Martins TG, Jacmin M, Drury S, Krishna Chinthapalli V, Muhle H, Pendziwiat M, Sander T, Ruppert AK, Møller RS, ... ... Mefford HC, et al. CHD2 variants are a risk factor for photosensitivity in epilepsy. Brain : a Journal of Neurology. 138: 1198-207. PMID 25783594 DOI: 10.1093/brain/awv052  0.56
2015 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, et al. Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase. Plos Genetics. 11: e1005022. PMID 25763846 DOI: 10.1371/journal.pgen.1005022  0.56
2015 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, ... ... Mefford HC, et al. Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID. Molecular Psychiatry. PMID 25707398 DOI: 10.1038/mp.2015.5  0.56
2015 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. Investigating the genetic basis of fever-associated syndromic epilepsies using copy number variation analysis. Epilepsia. 56: e26-32. PMID 25690317 DOI: 10.1111/epi.12920  0.56
2015 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. 84: 951-8. PMID 25672921 DOI: 10.1212/WNL.0000000000001305  0.56
2015 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, ... ... Mefford HC, et al. The phenotypic spectrum of SCN8A encephalopathy. Neurology. 84: 480-9. PMID 25568300 DOI: 10.1212/WNL.0000000000001211  0.56
2015 Mefford HC. Patchwork people: A role for somatic mutations in brain malformations Science Translational Medicine. 7. DOI: 10.1126/scitranslmed.aaa8319  0.56
2015 Mefford HC. Journey to the center of the cause Science Translational Medicine. 7. DOI: 10.1126/scitranslmed.aaa3471  0.56
2015 Berkovic SF, Scheffer IE, Petrou S, Delanty N, Dixon-Salazar TJ, Dlugos DJ, Helbig I, Frankel WN, Goldstein DB, Heinzen EL, Lowenstein DH, Mefford HC, Parent JM, Poduri A, Traynelis SF. A roadmap for precision medicine in the epilepsies The Lancet Neurology. 14: 1219-1228. DOI: 10.1016/S1474-4422(15)00199-4  0.56
2015 Mefford H. Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy Annals of Neurology. 78: 323-328. DOI: 10.1002/ana.24457  0.56
2014 Mefford HC. Thinking about cognition and epilepsy. Epilepsy & Behavior : E&B. 41: 276. PMID 25260241 DOI: 10.1016/j.yebeh.2014.09.007  0.56
2014 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, ... ... Mefford HC, et al. Refining analyses of copy number variation identifies specific genes associated with developmental delay. Nature Genetics. 46: 1063-71. PMID 25217958 DOI: 10.1038/ng.3092  0.56
2014 Scheffer IE, Mefford HC. Epilepsy: Beyond the single nucleotide variant in epilepsy genetics. Nature Reviews. Neurology. 10: 490-1. PMID 25112510 DOI: 10.1038/nrneurol.2014.146  0.56
2014 Bernier R, Golzio C, Xiong B, Stessman HA, 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, ... ... Mefford HC, et al. Disruptive CHD8 mutations define a subtype of autism early in development. Cell. 158: 263-76. PMID 24998929 DOI: 10.1016/j.cell.2014.06.017  0.56
2014 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, ... ... Mefford H, et al. 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy. Human Molecular Genetics. 23: 6069-80. PMID 24939913 DOI: 10.1093/hmg/ddu306  0.56
2014 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. The genetic landscape of infantile spasms. Human Molecular Genetics. 23: 4846-58. PMID 24781210 DOI: 10.1093/hmg/ddu199  0.56
2014 Watson CT, Marques-Bonet T, Sharp AJ, Mefford HC. The genetics of microdeletion and microduplication syndromes: an update. Annual Review of Genomics and Human Genetics. 15: 215-44. PMID 24773319 DOI: 10.1146/annurev-genom-091212-153408  0.56
2014 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, ... ... Mefford HC, et al. Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems. American Journal of Human Genetics. 94: 649-61. PMID 24726472 DOI: 10.1016/j.ajhg.2014.03.013  0.56
2014 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, ... ... Mefford HC, et al. GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. Neurology. 82: 1245-53. PMID 24623842 DOI: 10.1212/WNL.0000000000000291  0.56
2014 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, ... ... Mefford HC, et al. Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis. Human Molecular Genetics. 23: 3200-11. PMID 24463883 DOI: 10.1093/hmg/ddu030  0.56
2014 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, ... ... Mefford H, et al. Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia. Journal of Medical Genetics. 51: 197-202. PMID 24385578 DOI: 10.1136/jmedgenet-2013-101989  0.56
2014 Jähn JA, von Spiczak S, Muhle H, Obermeier T, Franke A, Mefford HC, Stephani U, Helbig I. Iterative phenotyping of 15q11.2, 15q13.3 and 16p13.11 microdeletion carriers in pediatric epilepsies. Epilepsy Research. 108: 109-16. PMID 24246141 DOI: 10.1016/j.eplepsyres.2013.10.001  0.56
2014 Mefford HC. Heating up: The genetics of febrile seizures Science Translational Medicine. 6. DOI: 10.1126/scitranslmed.aaa2063  0.56
2014 Mefford HC. Shedding light on the genome's dark matter Science Translational Medicine. 6. DOI: 10.1126/scitranslmed.3010422  0.56
2014 Mefford HC. Human genetics: What's your attitude? Science Translational Medicine. 6. DOI: 10.1126/scitranslmed.3009810  0.56
2014 Mefford HC. "Brain-Critical" Exons in autism Science Translational Medicine. 6. DOI: 10.1126/scitranslmed.3009417  0.56
2014 Mefford HC. SNFing for clues to the genetics of autism Science Translational Medicine. 6. DOI: 10.1126/scitranslmed.3009253  0.56
2013 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, ... ... Mefford HC, et al. PRICKLE1 interaction with SYNAPSIN I reveals a role in autism spectrum disorders. Plos One. 8: e80737. PMID 24312498 DOI: 10.1371/journal.pone.0080737  0.56
2013 Helbig I, Hartmann C, Mefford HC. Clarifying the role of the 22q11.2 microdeletion in juvenile myoclonic epilepsy. Epilepsy & Behavior : E&B. 29: 589-90. PMID 24090771 DOI: 10.1016/j.yebeh.2013.08.032  0.56
2013 Abrahams BS, Arking DE, Campbell DB, Mefford HC, Morrow EM, Weiss LA, Menashe I, Wadkins T, Banerjee-Basu S, Packer A. SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs). Molecular Autism. 4: 36. PMID 24090431 DOI: 10.1186/2040-2392-4-36  0.56
2013 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. 81: 1507-14. PMID 24068782 DOI: 10.1212/WNL.0b013e3182a95829  0.56
2013 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, et al. Two novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effects. Human Mutation. 34: 1672-8. PMID 24027063 DOI: 10.1002/humu.22437  0.56
2013 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, ... ... Mefford HC, et al. De novo mutations in epileptic encephalopathies. Nature. 501: 217-21. PMID 23934111 DOI: 10.1038/nature12439  0.56
2013 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, ... ... Mefford HC, et al. GRIN2A mutations cause epilepsy-aphasia spectrum disorders. Nature Genetics. 45: 1073-6. PMID 23933818 DOI: 10.1038/ng.2727  0.56
2013 Helbig I, Hartmann C, Mefford HC. The unexpected role of copy number variations in juvenile myoclonic epilepsy. Epilepsy & Behavior : E&B. 28: S66-8. PMID 23756484 DOI: 10.1016/j.yebeh.2012.07.005  0.56
2013 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, ... ... Mefford HC, et al. Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. Nature Genetics. 45: 825-30. PMID 23708187 DOI: 10.1038/ng.2646  0.56
2013 Bassuk AG, Geraghty E, Wu S, Mullen SA, Berkovic SF, Scheffer IE, Mefford HC. Deletions of 16p11.2 and 19p13.2 in a family with intellectual disability and generalized epilepsy. American Journal of Medical Genetics. Part A. 161: 1722-5. PMID 23686817 DOI: 10.1002/ajmg.a.35946  0.56
2013 Carvill GL, Mefford HC. Microdeletion syndromes. Current Opinion in Genetics & Development. 23: 232-9. PMID 23664828 DOI: 10.1016/j.gde.2013.03.004  0.56
2013 Kirov A, Dimova P, Todorova A, Mefford H, Todorov T, Saraylieva G, Bojinova V, Mitev V, Helbig I. 15q13.3 microdeletions in a prospectively recruited cohort of patients with idiopathic generalized epilepsy in Bulgaria. Epilepsy Research. 104: 241-5. PMID 23352738 DOI: 10.1016/j.eplepsyres.2012.10.013  0.56
2013 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 IM, Wichmann HE, Ernst JP, et al. Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy. Epilepsia. 54: 256-64. PMID 23294455 DOI: 10.1111/epi.12078  0.56
2013 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, ... ... Mefford HC, et al. Mutations in ECEL1 cause distal arthrogryposis type 5D. American Journal of Human Genetics. 92: 150-6. PMID 23261301 DOI: 10.1016/j.ajhg.2012.11.014  0.56
2013 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, ... ... Mefford H, et al. Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity. Human Mutation. 34: 296-300. PMID 23086778 DOI: 10.1002/humu.22241  0.56
2012 Mefford HC, Cook J, Gospe SM. Epilepsy due to 20q13.33 subtelomere deletion masquerading as pyridoxine-dependent epilepsy. American Journal of Medical Genetics. Part A. 158: 3190-5. PMID 23166088 DOI: 10.1002/ajmg.a.35633  0.56
2012 O'Roak BJ, Vives L, Fu W, Egertson JD, Stanaway IB, Phelps IG, Carvill G, Kumar A, Lee C, Ankenman K, Munson J, Hiatt JB, Turner EH, Levy R, O'Day DR, ... ... Mefford HC, et al. Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science (New York, N.Y.). 338: 1619-22. PMID 23160955 DOI: 10.1126/science.1227764  0.56
2012 Mefford HC. Diagnostic exome sequencing--are we there yet? The New England Journal of Medicine. 367: 1951-3. PMID 23033977 DOI: 10.1056/NEJMe1211659  0.56
2012 Mefford HC, Batshaw ML, Hoffman EP. Genomics, intellectual disability, and autism. The New England Journal of Medicine. 366: 733-43. PMID 22356326 DOI: 10.1056/NEJMra1114194  0.56
2012 Hing AV, Mefford HC, Cunningham ML. New developments in genetic diagnosis: implications for the craniofacial surgeon. The Journal of Craniofacial Surgery. 23: 212-6. PMID 22337411 DOI: 10.1097/SCS.0b013e318241ae88  0.56
2012 Bachmann-Gagescu R, Ishak GE, Dempsey JC, 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, ... ... Mefford H, et al. Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures. Journal of Medical Genetics. 49: 126-37. PMID 22241855 DOI: 10.1136/jmedgenet-2011-100552  0.56
2012 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, et al. Further clinical and molecular delineation of the 15q24 microdeletion syndrome. Journal of Medical Genetics. 49: 110-8. PMID 22180641 DOI: 10.1136/jmedgenet-2011-100499  0.56
2012 Mefford HC, Batshaw ML, Hoffman EP. The authors reply New England Journal of Medicine. 366: 2232. DOI: 10.1056/NEJMc1204036  0.56
2011 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 JT, et al. Rare copy number variants are an important cause of epileptic encephalopathies. Annals of Neurology. 70: 974-85. PMID 22190369 DOI: 10.1002/ana.22645  0.56
2011 Muhle H, Mefford HC, Obermeier T, von Spiczak S, Eichler EE, Stephani U, Sander T, Helbig I. Absence seizures with intellectual disability as a phenotype of the 15q13.3 microdeletion syndrome. Epilepsia. 52: e194-8. PMID 22050399 DOI: 10.1111/j.1528-1167.2011.03301.x  0.56
2011 Cooper GM, Mefford HC. Detection of copy number variation using SNP genotyping. Methods in Molecular Biology (Clifton, N.J.). 767: 243-52. PMID 21822880 DOI: 10.1007/978-1-61779-201-4_18  0.56
2011 Carranza Rojo D, Hamiwka L, McMahon JM, Dibbens LM, Arsov T, Suls A, Stödberg T, Kelley K, Wirrell E, Appleton B, Mackay M, Freeman JL, Yendle SC, Berkovic SF, Bienvenu T, ... ... Mefford HC, et al. De novo SCN1A mutations in migrating partial seizures of infancy. Neurology. 77: 380-3. PMID 21753172 DOI: 10.1212/WNL.0b013e318227046d  0.56
2011 Hannibal MC, Buckingham KJ, Ng SB, Ming JE, Beck AE, McMillin MJ, Gildersleeve HI, Bigham AW, Tabor HK, Mefford HC, Cook J, Yoshiura K, Matsumoto T, Matsumoto N, Miyake N, et al. Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome. American Journal of Medical Genetics. Part A. 155: 1511-6. PMID 21671394 DOI: 10.1002/ajmg.a.34074  0.56
2011 Mulley JC, Mefford HC. Epilepsy and the new cytogenetics. Epilepsia. 52: 423-32. PMID 21269290 DOI: 10.1111/j.1528-1167.2010.02932.x  0.56
2011 Sisodiya SM, Mefford HC. Genetic contribution to common epilepsies. Current Opinion in Neurology. 24: 140-5. PMID 21252662 DOI: 10.1097/WCO.0b013e328344062f  0.56
2010 Mefford HC, Mulley JC. Genetically complex epilepsies, copy number variants and syndrome constellations. Genome Medicine. 2: 71. PMID 20923578 DOI: 10.1186/gm192  0.56
2010 Bachmann-Gagescu R, Mefford HC, Cowan C, Glew GM, Hing AV, Wallace S, Bader PI, Hamati A, Reitnauer PJ, Smith R, Stockton DW, Muhle H, Helbig I, Eichler EE, Ballif BC, et al. Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 12: 641-7. PMID 20808231 DOI: 10.1097/GIM.0b013e3181ef4286  0.56
2010 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, et al. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nature Genetics. 42: 790-3. PMID 20711175 DOI: 10.1038/ng.646  0.56
2010 Mefford HC, Shafer N, Antonacci F, Tsai JM, Park SS, Hing AV, Rieder MJ, Smyth MD, Speltz ML, Eichler EE, Cunningham ML. Copy number variation analysis in single-suture craniosynostosis: multiple rare variants including RUNX2 duplication in two cousins with metopic craniosynostosis. American Journal of Medical Genetics. Part A. 152: 2203-10. PMID 20683987 DOI: 10.1002/ajmg.a.33557  0.56
2010 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, et al. Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies. Plos Genetics. 6: e1000962. PMID 20502679 DOI: 10.1371/journal.pgen.1000962  0.56
2010 Girirajan S, Rosenfeld JA, Cooper GM, Antonacci F, Siswara P, Itsara A, Vives L, Walsh T, McCarthy SE, Baker C, Mefford HC, Kidd JM, Browning SR, Browning BL, Dickel DE, et al. A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nature Genetics. 42: 203-9. PMID 20154674 DOI: 10.1038/ng.534  0.56
2010 Collie AM, Landsverk ML, Ruzzo E, Mefford HC, Buysse K, Adkins JR, Knutzen DM, Barnett K, Brown RH, Parry GJ, Yum SW, Simpson DA, Olney RK, Chinnery PF, Eichler EE, et al. Non-recurrent SEPT9 duplications cause hereditary neuralgic amyotrophy. Journal of Medical Genetics. 47: 601-7. PMID 19939853 DOI: 10.1136/jmg.2009.072348  0.56
2010 de Kovel CG, Trucks H, Helbig I, Mefford HC, Baker C, Leu C, Kluck C, Muhle H, von Spiczak S, Ostertag P, Obermeier T, Kleefuss-Lie AA, Hallmann K, Steffens M, Gaus V, et al. Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain : a Journal of Neurology. 133: 23-32. PMID 19843651 DOI: 10.1093/brain/awp262  0.56
2010 Mefford HC. The importance of genome architecture in mental retardation Monographs in Human Genetics. 18: 43-56. DOI: 10.1159/000287595  0.56
2009 Mefford HC. Genotype to phenotype-discovery and characterization of novel genomic disorders in a "genotype-first" era. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 11: 836-42. PMID 20010361 DOI: 10.1097/GIM.0b013e3181c175d2  0.56
2009 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, Sander T, et al. Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance. Human Molecular Genetics. 18: 3626-31. PMID 19592580 DOI: 10.1093/hmg/ddp311  0.56
2009 Mefford HC, Cooper GM, Zerr T, Smith JD, Baker C, Shafer N, Thorland EC, Skinner C, Schwartz CE, Nickerson DA, Eichler EE. A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease. Genome Research. 19: 1579-85. PMID 19506092 DOI: 10.1101/gr.094987.109  0.56
2009 Mefford HC, Eichler EE. Duplication hotspots, rare genomic disorders, and common disease. Current Opinion in Genetics & Development. 19: 196-204. PMID 19477115 DOI: 10.1016/j.gde.2009.04.003  0.56
2009 van Bon BW, Mefford HC, Menten B, Koolen DA, Sharp AJ, Nillesen WM, Innis JW, de Ravel TJ, Mercer CL, Fichera M, Stewart H, Connell LE, Ounap K, Lachlan K, Castle B, et al. Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome. Journal of Medical Genetics. 46: 511-23. PMID 19372089 DOI: 10.1136/jmg.2008.063412  0.56
2009 Sparkes RL, Shetty S, Chernos JE, Mefford HC, Micheil Innes A. Interstitial deletion of 11q in a mother and fetus: implications of directly transmitted chromosomal imbalances for prenatal genetic counseling. Prenatal Diagnosis. 29: 283-6. PMID 19177486 DOI: 10.1002/pd.2209  0.56
2009 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. Population analysis of large copy number variants and hotspots of human genetic disease. American Journal of Human Genetics. 84: 148-61. PMID 19166990 DOI: 10.1016/j.ajhg.2008.12.014  0.56
2009 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, et al. Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy. Human Molecular Genetics. 18: 1200-8. PMID 19139049 DOI: 10.1093/hmg/ddp014  0.56
2009 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, et al. 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nature Genetics. 41: 160-2. PMID 19136953 DOI: 10.1038/ng.292  0.56
2009 Hannes FD, Sharp AJ, Mefford HC, de Ravel T, Ruivenkamp CA, Breuning MH, Fryns JP, Devriendt K, Van Buggenhout G, Vogels A, Stewart H, Hennekam RC, Cooper GM, Regan R, Knight SJ, et al. 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. PMID 18550696 DOI: 10.1136/jmg.2007.055202  0.56
2008 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, Devriendt K, et al. Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. The New England Journal of Medicine. 359: 1685-99. PMID 18784092 DOI: 10.1056/NEJMoa0805384  0.56
2008 Sharp AJ, Mefford HC, Li K, Baker C, Skinner C, Stevenson RE, Schroer RJ, Novara F, De Gregori M, Ciccone R, Broomer A, Casuga I, Wang Y, Xiao C, Barbacioru C, et al. A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nature Genetics. 40: 322-8. PMID 18278044 DOI: 10.1038/ng.93  0.56
2007 Mefford HC, Clauin S, Sharp AJ, Moller RS, Ullmann R, Kapur R, Pinkel D, Cooper GM, Ventura M, Ropers HH, Tommerup N, Eichler EE, Bellanne-Chantelot C. Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy. American Journal of Human Genetics. 81: 1057-69. PMID 17924346 DOI: 10.1086/522591  0.56
2002 Gygi MP, Ferguson MD, Mefford HC, Lund KP, O'Day C, Zhou P, Friedman C, van den Engh G, Stolowitz ML, Trask BJ. Use of fluorescent sequence-specific polyamides to discriminate human chromosomes by microscopy and flow cytometry. Nucleic Acids Research. 30: 2790-9. PMID 12087162  0.56
2002 Mefford HC, Trask BJ. The complex structure and dynamic evolution of human subtelomeres. Nature Reviews. Genetics. 3: 91-102. PMID 11836503 DOI: 10.1038/nrg727  0.56
2001 Linardopoulou E, Mefford HC, Nguyen O, Friedman C, van den Engh G, Farwell DG, Coltrera M, Trask BJ. Transcriptional activity of multiple copies of a subtelomerically located olfactory receptor gene that is polymorphic in number and location. Human Molecular Genetics. 10: 2373-83. PMID 11689484  0.56
2001 Mefford HC, Linardopoulou E, Coil D, van den Engh G, Trask BJ. Comparative sequencing of a multicopy subtelomeric region containing olfactory receptor genes reveals multiple interactions between non-homologous chromosomes. Human Molecular Genetics. 10: 2363-72. PMID 11689483  0.56
1999 Mefford HC, Baumbach L, Panguluri RC, Whitfield-Broome C, Szabo C, Smith S, King MC, Dunston G, Stoppa-Lyonnet D, Arena F. Evidence for a BRCA1 founder mutation in families of West African ancestry. American Journal of Human Genetics. 65: 575-8. PMID 10417303 DOI: 10.1086/302511  0.56
1997 Schubert EL, Mefford HC, Dann JL, Argonza RH, Hull J, King MC. BRCA1 and BRCA2 mutations in Ashkenazi Jewish families with breast and ovarian cancer. Genetic Testing. 1: 41-6. PMID 10464624  0.56
1997 Mefford H, van den Engh G, Friedman C, Trask BJ. Analysis of the variation in chromosome size among diverse human populations by bivariate flow karyotyping. Human Genetics. 100: 138-44. PMID 9225983 DOI: 10.1007/s004390050479  0.56
1997 Schubert EL, Lee MK, Mefford HC, Argonza RH, Morrow JE, Hull J, Dann JL, King MC. 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: 1031-40. PMID 9150150  0.56
1996 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. Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients. Human Genetics. 98: 710-8. PMID 8931707 DOI: 10.1007/s004390050291  0.56
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