| Year |
Citation |
Score |
| 2024 |
Chen H, Wang YD, Blan AW, Almanza-Fuerte EP, Bonkowski ES, Bajpai R, Pruett-Miller SM, Mefford HC. Patient derived model of -associated encephalopathy identifies defects in neurodevelopment and highlights potential therapies. Biorxiv : the Preprint Server For Biology. PMID 38328212 DOI: 10.1101/2024.01.25.577254 |
0.324 |
|
| 2024 |
Paul MS, Michener SL, Pan H, Chan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, ... ... Mefford H, et al. A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3. American Journal of Human Genetics. 111: 96-118. PMID 38181735 DOI: 10.1016/j.ajhg.2023.12.004 |
0.31 |
|
| 2023 |
Nyaga DM, Hildebrand MS, de Valles-Ibáñez G, Keenan NF, Ye Z, LaFlamme CW, Mefford HC, Bennett MF, Bahlo M, Sadleir LG. Leveraging multiple approaches for detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies: a case report. Epilepsia Open. PMID 38129960 DOI: 10.1002/epi4.12887 |
0.426 |
|
| 2023 |
Bosch E, Popp B, Güse E, Skinner C, van der Sluijs PJ, Maystadt I, Pinto AM, Renieri A, Bruno LP, Granata S, Marcelis C, Baysal Ö, Hartwich D, Holthöfer L, Isidor B, ... ... Mefford HC, et al. Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 100950. PMID 37551667 DOI: 10.1016/j.gim.2023.100950 |
0.315 |
|
| 2022 |
Lai A, Soucy A, El Achkar CM, Barkovich AJ, Cao Y, DiStefano M, Evenson M, Guerrini R, Knight D, Lee YS, Mefford HC, Miller DT, Mirzaa G, Mochida G, Rodan LH, et al. The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 35997716 DOI: 10.1016/j.gim.2022.07.020 |
0.371 |
|
| 2022 |
Cornejo-Sanchez DM, Acharya A, Bharadwaj T, Marin-Gomez L, Pereira-Gomez P, Nouel-Saied LM, Nickerson DA, Bamshad MJ, Mefford HC, Schrauwen I, Carrizosa-Moog J, Cornejo-Ochoa W, Pineda-Trujillo N, Leal SM. Variants as the Underlying Cause of Genetic Epilepsy with Febrile Seizures Plus in Two Multi-Generational Colombian Families. Genes. 13. PMID 35627139 DOI: 10.3390/genes13050754 |
0.321 |
|
| 2022 |
Stephenson SEM, Costain G, Blok LER, Silk MA, Nguyen TB, Dong X, Alhuzaimi DE, Dowling JJ, Walker S, Amburgey K, Hayeems RZ, Rodan LH, Schwartz MA, Picker J, Lynch SA, ... ... Mefford HC, et al. Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome. American Journal of Human Genetics. 109: 601-617. PMID 35395208 DOI: 10.1016/j.ajhg.2022.03.002 |
0.311 |
|
| 2022 |
van der Knoop MM, Maroofian R, Fukata Y, van Ierland Y, Karimiani EG, Lehesjoki AE, Muona M, Paetau A, Miyazaki Y, Hirano Y, Selim L, de França M, Fock RA, Beetz C, Ruivenkamp CAL, ... ... Mefford HC, et al. Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy. Brain : a Journal of Neurology. PMID 35373813 DOI: 10.1093/brain/awac116 |
0.328 |
|
| 2021 |
Manivannan SN, Roovers J, Smal N, Myers CT, Turkdogan D, Roelens F, Kanca O, Chung HL, Scholz T, Hermann K, Bierhals T, Caglayan HS, Stamberger H, Mefford H, et al. De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies. Brain : a Journal of Neurology. PMID 34788397 DOI: 10.1093/brain/awab409 |
0.399 |
|
| 2021 |
Verdura E, Rodríguez-Palmero A, Vélez-Santamaria V, Planas-Serra L, de la Calle I, Raspall-Chaure M, Roubertie A, Benkirane M, Saettini F, Pavinato L, Mandrile G, O'Leary M, O'Heir E, Barredo E, Chacón A, ... ... Mefford HC, et al. Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy. Brain : a Journal of Neurology. PMID 34415322 DOI: 10.1093/brain/awab124 |
0.323 |
|
| 2021 |
Carvill GL, Jansen S, Lacroix A, Zemel M, Mehaffey M, De Vries P, Brunner HG, Scheffer IE, De Vries BBA, Vissers LELM, Mefford HC. Genetic convergence of developmental and epileptic encephalopathies and intellectual disability. Developmental Medicine and Child Neurology. PMID 34247411 DOI: 10.1111/dmcn.14989 |
0.313 |
|
| 2021 |
Miller DE, Sulovari A, Wang T, Loucks H, Hoekzema K, Munson KM, Lewis AP, Fuerte EPA, Paschal CR, Walsh T, Thies J, Bennett JT, Glass I, Dipple KM, Patterson K, ... ... Mefford HC, et al. Targeted long-read sequencing identifies missing disease-causing variation. American Journal of Human Genetics. PMID 34216551 DOI: 10.1016/j.ajhg.2021.06.006 |
0.532 |
|
| 2021 |
Muir AM, Gardner JF, van Jaarsveld RH, de Lange IM, van der Smagt JJ, Wilson GN, Dubbs H, Goldberg EM, Zitano L, Bupp C, Martinez J, Srour M, Accogli A, Alhakeem A, Meltzer M, ... ... Mefford HC, et al. Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 33473207 DOI: 10.1038/s41436-020-01076-8 |
0.365 |
|
| 2021 |
Datta AN, Bahi-Buisson N, Bienvenu T, Buerki SE, Gardiner F, Cross JH, Heron B, Kaminska A, Korff CM, Lepine A, Lesca G, McTague A, Mefford HC, Mignot C, Milh M, et al. The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy. Epilepsia. PMID 33410528 DOI: 10.1111/epi.16761 |
0.335 |
|
| 2020 |
Rossetti LZ, Bekheirnia MR, Lewis AM, Mefford HC, Golden-Grant K, Tarczy-Hornoch K, Briere LC, Sweetser DA, Walker MA, Kravets E, Stevenson DA, Bruenner G, Sebastian J, Knapo J, Rosenfeld JA, et al. Missense variants in CTNNB1 can be associated with vitreoretinopathy-Seven new cases of CTNNB1-associated neurodevelopmental disorder including a previously unreported retinal phenotype. Molecular Genetics & Genomic Medicine. e1542. PMID 33350591 DOI: 10.1002/mgg3.1542 |
0.32 |
|
| 2020 |
Klöckner C, Sticht H, Zacher P, Popp B, Babcock HE, Bakker DP, Barwick K, Bonfert MV, Bönnemann CG, Brilstra EH, Chung WK, Clarke AJ, Devine P, Donkervoort S, ... ... Mefford HC, et al. De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 33299146 DOI: 10.1038/s41436-020-01020-w |
0.359 |
|
| 2020 |
Schneider AL, Myers CT, Muir AM, Calvert S, Basinger A, Perry MS, Rodan L, Helbig KL, Chambers C, Gorman KM, King MD, Donkervoort S, Soldatos A, Bönnemann CG, Spataro N, ... ... Mefford HC, et al. FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability. Epilepsia. PMID 33280099 DOI: 10.1111/epi.16784 |
0.37 |
|
| 2020 |
Connaughton DM, Dai R, Owen DJ, Marquez J, Mann N, Graham-Paquin AL, Nakayama M, Coyaud E, Laurent EMN, St-Germain JR, Blok LS, Vino A, Klämbt V, Deutsch K, Wu CW, ... ... Mefford HC, et al. Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations. American Journal of Human Genetics. PMID 32891193 DOI: 10.1016/J.Ajhg.2020.08.013 |
0.367 |
|
| 2020 |
Muir AM, Cohen JL, Sheppard SE, Guttipatti P, Lo TY, Weed N, Doherty D, DeMarzo D, Fagerberg CR, Kjærsgaard L, Larsen MJ, Rump P, Löhner K, Hirsch Y, Zeevi DA, ... ... Mefford HC, et al. Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities. American Journal of Human Genetics. PMID 32275884 DOI: 10.1016/J.Ajhg.2020.03.009 |
0.412 |
|
| 2020 |
Carvill GL, Helbig KL, Myers CT, Scala M, Huether R, Lewis S, Kruer TN, Guida BS, Bakhtiari S, Sebe J, Tang S, Stickney H, Oktay SU, Bhandiwad AA, Ramsey K, ... ... Mefford HC, et al. Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy. Human Mutation. PMID 32196822 DOI: 10.1002/Humu.24015 |
0.308 |
|
| 2020 |
Tsai MH, Muir AM, Wang WJ, Kang YN, Yang KC, Chao NH, Wu MF, Chang YC, Porter BE, Jansen LA, Sebire G, Deconinck N, Fan WL, Su SC, Chung WH, ... ... Mefford HC, et al. Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly. Neuron. PMID 32097630 DOI: 10.1016/j.neuron.2020.01.027 |
0.315 |
|
| 2019 |
Desprairies C, Valence S, Maurey H, Helal SI, Weckhuysen S, Soliman H, Mefford HC, Spentchian M, Héron D, Leguern E, Nava C, Bouilleret V, Moretti R, Mignot C. Three novel patients with epileptic encephalopathy due to biallelic mutations in the PLCB1 gene. Clinical Genetics. PMID 31883110 DOI: 10.1111/cge.13696 |
0.401 |
|
| 2019 |
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 31879022 DOI: 10.1016/j.ajhg.2019.11.014 |
0.486 |
|
| 2019 |
Guo H, Bettella E, Marcogliese PC, Zhao R, Andrews JC, Nowakowski TJ, Gillentine MA, Hoekzema K, Wang T, Wu H, Jangam S, Liu C, Ni H, Willemsen MH, van Bon BW, ... ... Mefford HC, et al. Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders. Nature Communications. 10: 4679. PMID 31616000 DOI: 10.1038/S41467-019-12435-8 |
0.582 |
|
| 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 |
0.747 |
|
| 2019 |
Bar C, Barcia G, Jennesson M, Le Guyader G, Schneider A, Mignot C, Lesca G, Breuillard D, Montomoli M, Keren B, Doummar D, de Villemeur TB, Afenjar A, Marey I, Gerard M, ... ... Mefford HC, et al. Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature. Human Mutation. PMID 31513310 DOI: 10.1002/Humu.23915 |
0.42 |
|
| 2019 |
Muir AM, Myers CT, Nguyen NT, Saykally J, Craiu D, De Jonghe P, Helbig I, Hoffman-Zacharska D, Guerrini R, Lehesjoki AE, Marini C, Møller RS, Serratosa J, Štěrbová K, Striano P, ... ... Mefford HC, et al. Genetic heterogeneity in infantile spasms. Epilepsy Research. 156: 106181. PMID 31394400 DOI: 10.1016/J.Eplepsyres.2019.106181 |
0.309 |
|
| 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 |
0.546 |
|
| 2019 |
Ye Z, McQuillan L, Poduri A, Green TE, Matsumoto N, Mefford HC, Scheffer IE, Berkovic SF, Hildebrand MS. Somatic mutation: The hidden genetics of brain malformations and focal epilepsies. Epilepsy Research. 155: 106161. PMID 31295639 DOI: 10.1016/j.eplepsyres.2019.106161 |
0.33 |
|
| 2019 |
Sands TT, Miceli F, Lesca G, Beck AE, Sadleir LG, Arrington DK, Schönewolf-Greulich B, Moutton S, Lauritano A, Nappi P, Soldovieri MV, Scheffer IE, Mefford HC, Stong N, Heinzen EL, et al. Autism and developmental disability caused by KCNQ3 gain-of-function variants. Annals of Neurology. PMID 31177578 DOI: 10.1002/ana.25522 |
0.355 |
|
| 2019 |
Gorman KM, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, Carss KJ, Bryant E, Reich A, Schneider AL, Pressler RM, Simpson MA, Debelle GD, Wassmer E, Morton J, ... ... Mefford HC, et al. Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia. American Journal of Human Genetics. PMID 30982612 DOI: 10.1016/J.Ajhg.2019.03.005 |
0.312 |
|
| 2019 |
Bisulli F, Licchetta L, Baldassari S, Muccioli L, Marconi C, Cantalupo G, Myers C, Menghi V, Minardi R, Caporali L, Marini C, Guerrini R, Mefford HC, Tinuper P, Pippucci T. SCN1A mutations in focal epilepsy with auditory features: widening the spectrum of GEFS plus. Epileptic Disorders : International Epilepsy Journal With Videotape. PMID 30977726 DOI: 10.1684/Epd.2019.1046 |
0.369 |
|
| 2019 |
Nabais Sá MJ, Jensik PJ, McGee SR, Parker MJ, Lahiri N, McNeil EP, Kroes HY, Hagerman RJ, Harrison RE, Montgomery T, Splitt M, Palmer EE, Sachdev RK, Mefford HC, Scott AA, et al. De novo and biallelic DEAF1 variants cause a phenotypic spectrum. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30923367 DOI: 10.1038/s41436-019-0473-6 |
0.367 |
|
| 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 |
0.573 |
|
| 2018 |
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. Human Mutation. PMID 30556619 DOI: 10.1002/Humu.23699 |
0.404 |
|
| 2018 |
LaCroix AJ, Stabley D, Sahraoui R, Adam MP, Mehaffey M, Kernan K, Myers CT, Fagerstrom C, Anadiotis G, Akkari YM, Robbins KM, Gripp KW, Baratela WAR, Bober MB, Duker AL, ... ... Mefford HC, et al. GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome. American Journal of Human Genetics. PMID 30554721 DOI: 10.1016/J.Ajhg.2018.11.005 |
0.411 |
|
| 2018 |
Vlaskamp DRM, Shaw BJ, Burgess R, Mei D, Montomoli M, Xie H, Myers CT, Bennett MF, XiangWei W, Williams D, Maas SM, Brooks AS, Mancini GMS, van de Laar IMBH, van Hagen JM, ... ... Mefford HC, et al. encephalopathy: A distinctive generalized developmental and epileptic encephalopathy. Neurology. PMID 30541864 DOI: 10.1212/Wnl.0000000000006729 |
0.317 |
|
| 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 |
0.545 |
|
| 2018 |
Bozarth X, Dines JN, Cong Q, Mirzaa GM, Foss K, Lawrence Merritt J, Thies J, Mefford HC, Novotny E. Expanding clinical phenotype in CACNA1C related disorders: From neonatal onset severe epileptic encephalopathy to late-onset epilepsy. American Journal of Medical Genetics. Part A. 176: 2733-2739. PMID 30513141 DOI: 10.1002/ajmg.a.40657 |
0.376 |
|
| 2018 |
Helbig I, Riggs ER, Barry CA, Klein KM, Dyment D, Thaxton C, Sadikovic B, Sands TT, Wagnon JL, Liaquat K, Cilio MR, Mirzaa G, Park K, Axeen E, Butler E, ... ... Mefford HC, et al. The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria. Human Mutation. 39: 1476-1484. PMID 30311377 DOI: 10.1002/Humu.23632 |
0.343 |
|
| 2018 |
Bozarth X, Foss K, Mefford HC. A de novo in-frame deletion of CASK gene causes early onset infantile spasms and supratentorial cerebral malformation in a female patient. American Journal of Medical Genetics. Part A. PMID 30289607 DOI: 10.1002/ajmg.a.40429 |
0.313 |
|
| 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 |
0.531 |
|
| 2018 |
Dines JN, Golden-Grant K, LaCroix A, Muir AM, Cintrón DL, McWalter K, Cho MT, Sun A, Merritt L, Thies J, Niyazov D, Burton B, Kim K, Fleming L, Westman R, ... ... Mefford HC, et al. TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30245509 DOI: 10.1038/s41436-018-0137-y |
0.319 |
|
| 2018 |
Gregor A, Sadleir LG, Asadollahi R, Azzarello-Burri S, Battaglia A, Ousager LB, Boonsawat P, Bruel AL, Buchert R, Calpena E, Cogné B, Dallapiccola B, Distelmaier F, Elmslie F, Faivre L, ... ... Mefford HC, et al. De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder. American Journal of Human Genetics. PMID 30057029 DOI: 10.1016/J.Ajhg.2018.07.003 |
0.439 |
|
| 2018 |
Kumar R, Gardner A, Homan CC, Douglas E, Mefford H, Wieczorek D, Lüdecke HJ, Stark Z, Sadedin S, Nowak CB, Douglas J, Parsons G, Mark P, Loidi L, et al. Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery. Human Mutation. PMID 29851191 DOI: 10.1002/Humu.23557 |
0.431 |
|
| 2018 |
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, ... ... Mefford H, et al. The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant. Annals of Neurology. PMID 29630738 DOI: 10.1002/Ana.25222 |
0.368 |
|
| 2018 |
Fry AE, Fawcett KA, Zelnik N, Yuan H, Thompson BAN, Shemer-Meiri L, Cushion TD, Mugalaasi H, Sims D, Stoodley N, Chung SK, Rees MI, Patel CV, Brueton LA, Layet V, ... ... Mefford HC, et al. De novo mutations in GRIN1 cause extensive bilateral polymicrogyria. Brain : a Journal of Neurology. PMID 29365063 DOI: 10.1093/Brain/Awx358 |
0.319 |
|
| 2018 |
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, ... ... Mefford HC, et al. Defining the phenotypic spectrum of SLC6A1 mutations. Epilepsia. PMID 29315614 DOI: 10.1111/Epi.13986 |
0.396 |
|
| 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 |
0.737 |
|
| 2017 |
Hamdan FF, Myers CT, Cossette P, Lemay P, Spiegelman D, Laporte AD, Nassif C, Diallo O, Monlong J, Cadieux-Dion M, Dobrzeniecka S, Meloche C, Retterer K, Cho MT, Rosenfeld JA, ... ... Mefford HC, et al. High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. American Journal of Human Genetics. 101: 664-685. PMID 29100083 DOI: 10.1016/J.Ajhg.2017.09.008 |
0.462 |
|
| 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 |
0.575 |
|
| 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 |
0.557 |
|
| 2017 |
Myers CT, Stong N, Mountier EI, Helbig KL, Freytag S, Sullivan JE, Ben Zeev B, Nissenkorn A, Tzadok M, Heimer G, Shinde DN, Rezazadeh A, Regan BM, Oliver KL, Ernst ME, ... ... Mefford HC, et al. De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures. American Journal of Human Genetics. PMID 28942967 DOI: 10.1016/J.Ajhg.2017.08.013 |
0.432 |
|
| 2017 |
Møller RS, Wuttke TV, Helbig I, Marini C, Johannesen KM, Brilstra EH, Vaher U, Borggraefe I, Talvik I, Talvik T, Kluger G, Francois LL, Lesca G, de Bellescize J, Blichfeldt S, ... ... Mefford HC, et al. Mutations in GABRB3: From febrile seizures to epileptic encephalopathies. Neurology. PMID 28053010 DOI: 10.1212/WNL.0000000000003565 |
0.353 |
|
| 2017 |
Chatron N, Møller R, Champaigne N, Kuechler A, Labalme A, Baggett L, Wieczorek D, Portes Vd, Edery P, Gardella E, Scheffer I, Mefford H, Sanlaville D, Carvill G, Lesca G. Severe cognitive impairment and early-onset epilepsy in six patients with the de novo p.Glu590Lys variant of CUX2 European Journal of Paediatric Neurology. 21: e194. DOI: 10.1016/J.Ejpn.2017.04.839 |
0.332 |
|
| 2016 |
Corbett MA, Bellows ST, Li M, Carroll R, Micallef S, Carvill GL, Myers CT, Howell KB, Maljevic S, Lerche H, Gazina EV, Mefford HC, Bahlo M, Berkovic SF, Petrou S, et al. Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy. Neurology. PMID 27733563 DOI: 10.1212/WNL.0000000000003309 |
0.342 |
|
| 2016 |
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, ... ... Mefford HC, et al. Pitfalls in genetic testing: the story of missed SCN1A mutations. Molecular Genetics & Genomic Medicine. 4: 457-64. PMID 27465585 DOI: 10.1002/Mgg3.217 |
0.38 |
|
| 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 |
0.331 |
|
| 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 |
0.36 |
|
| 2016 |
Myers CT, Mefford HC. Genetic investigations of the epileptic encephalopathies: Recent advances. Progress in Brain Research. 226: 35-60. PMID 27323938 DOI: 10.1016/Bs.Pbr.2016.04.006 |
0.382 |
|
| 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 |
0.355 |
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| 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 |
0.435 |
|
| 2016 |
Mignot C, von Stülpnagel C, Nava C, Ville D, Sanlaville D, Lesca G, Rastetter A, Gachet B, Marie Y, Korenke GC, Borggraefe I, Hoffmann-Zacharska D, Szczepanik E, Rudzka-Dybała M, Yiş U, ... ... Mefford HC, et al. Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy. Journal of Medical Genetics. PMID 26989088 DOI: 10.1136/Jmedgenet-2015-103451 |
0.366 |
|
| 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 |
0.572 |
|
| 2015 |
Carvill GL, Mefford HC. Next-Generation Sequencing in Intellectual Disability. Journal of Pediatric Genetics. 4: 128-35. PMID 27617123 DOI: 10.1055/s-0035-1564439 |
0.385 |
|
| 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 |
0.495 |
|
| 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 |
0.458 |
|
| 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 |
0.55 |
|
| 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 |
0.331 |
|
| 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 |
0.305 |
|
| 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 |
0.324 |
|
| 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 |
0.34 |
|
| 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 |
0.373 |
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| 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 |
0.367 |
|
| 2015 |
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 LG, Spence S, et al. Clinical phenotype of the recurrent 1q21.1 copy-number variant. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 26066539 DOI: 10.1038/Gim.2015.78 |
0.313 |
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| 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 |
0.312 |
|
| 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 |
0.738 |
|
| 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 |
0.411 |
|
| 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 |
0.327 |
|
| 2015 |
Vulto-van Silfhout A, Rajamanickam S, Jensik P, Vergult S, de Rocker N, Newhall K, Raghavan R, Reardon S, Jarrett K, McIntyre T, Bulinski J, Ownby S, Huggenvik J, McKnight G, Rose G, ... ... Mefford H, et al. Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems The American Journal of Human Genetics. 96: 178. DOI: 10.1016/J.Ajhg.2014.12.019 |
0.451 |
|
| 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 |
0.378 |
|
| 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 |
0.799 |
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| 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 |
0.364 |
|
| 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 |
0.805 |
|
| 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 |
0.36 |
|
| 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 |
0.454 |
|
| 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 |
0.704 |
|
| 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 |
0.522 |
|
| 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 |
0.74 |
|
| 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 |
0.455 |
|
| 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 |
0.485 |
|
| 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 |
0.345 |
|
| 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 |
0.362 |
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| 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 |
0.324 |
|
| 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 |
0.434 |
|
| 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 |
0.416 |
|
| 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 |
0.652 |
|
| 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 |
0.699 |
|
| 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 |
0.385 |
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| 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 |
0.73 |
|
| 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 |
0.404 |
|
| 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 |
0.398 |
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| 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 |
0.439 |
|
| 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 |
0.547 |
|
| 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 |
0.367 |
|
| 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 |
0.619 |
|
| 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 |
0.374 |
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| 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 |
0.79 |
|
| 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 |
0.37 |
|
| 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 |
0.502 |
|
| 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 |
0.54 |
|
| 2012 |
Chen D, Davis M, Mefford H, Sul Y, Naydenov A, Barloon AS, Wolff J, Matsushita M, Smith C, Stella N, Raskind W, Bird T. Two Novel Mutations in ABHD12 Expand the Mutation Spectrum in PHARC (P05.141) Neurology. 78: P05.141-P05.141. DOI: 10.1212/Wnl.78.1_Meetingabstracts.P05.141 |
0.49 |
|
| 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 |
0.614 |
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| 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 |
0.54 |
|
| 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 |
0.444 |
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| 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 |
0.446 |
|
| 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 |
0.4 |
|
| 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 |
0.39 |
|
| 2011 |
Sisodiya SM, Mefford HC. Genetic contribution to common epilepsies. Current Opinion in Neurology. 24: 140-5. PMID 21252662 DOI: 10.1097/WCO.0b013e328344062f |
0.34 |
|
| 2010 |
Mefford HC, Mulley JC. Genetically complex epilepsies, copy number variants and syndrome constellations. Genome Medicine. 2: 71. PMID 20923578 DOI: 10.1186/gm192 |
0.376 |
|
| 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 |
0.525 |
|
| 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 |
0.6 |
|
| 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 |
0.726 |
|
| 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 |
0.583 |
|
| 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 |
0.751 |
|
| 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 |
0.644 |
|
| 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 |
0.546 |
|
| 2010 |
Doherty D, Tsuchiya KD, Mefford HC, Shurtleff DB. Submicroscopic chromosome abnormalities associated with spina bifida (myelomeningocele) Cerebrospinal Fluid Research. 7. DOI: 10.1186/1743-8454-7-S1-S20 |
0.381 |
|
| 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 |
0.333 |
|
| 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 |
0.527 |
|
| 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 |
0.714 |
|
| 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 |
0.505 |
|
| 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 |
0.67 |
|
| 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 |
0.772 |
|
| 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 |
0.574 |
|
| 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 |
0.648 |
|
| 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 |
0.747 |
|
| 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 |
0.786 |
|
| 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 |
0.746 |
|
| 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 |
0.699 |
|
| 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 |
0.301 |
|
| 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 |
0.414 |
|
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