Wallace AS, Hudac CM, Steinman KJ, Peterson JL, DesChamps TD, Duyzend MH, Nuttle X, Eichler EE, Bernier RA. (2017). Longitudinal report of child with de novo 16p11.2 triplication. Clin Case Rep Dec 6;6(1):147-154. doi: 10.1002/ccr3.1236. eCollection 2018 Jan.
Blog Archives
Associations between Familial Rates of Psychiatric Disorders and De Novo Genetic Mutations in Autism
Luhrs K, Ward T, Hudac CM, Gerdts J, Stessman HAF, Eichler EE, Bernier RA. (2017). Associations between Familial Rates of Psychiatric Disorders and De Novo Genetic Mutations in Autism. Autism Res Treat 2017:9371964. doi: 10.1155/2017/9371964. Epub 2017 Nov 8.
Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications
Wilfert AB, Sulovari A, Turner TN, Coe BP, Eichler EE. (2017). Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications. Genome Med Nov 27;9(1):101.
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
Kury S, van Woerden GM, Besnard T, Proietti Onori M, Latypova X, Towne MC, Cho MT, Prescott TE, Ploeg MA, Sanders S, Stessman HAF, Pujol A, Distel B, Robak LA, Bernstein JA, Denomme-Pichon AS, Lesca G, Sellars EA, Berg J, Carre W, Busk OL, van Bon BWM, Waugh JL, Deardorff M, Hoganson GE, Bosanko KB, Johnson DS, Dabir T, Holla OL, Sarkar A, Tveten K, de Bellescize J, Braathen GJ, Terhal PA, Grange DK, van Haeringen A, Lam C, Mirzaa G, Burton J, Bhoj EJ, Douglas J, Santani AB, Nesbitt AI, Helbig KL, Andrews MV, Begtrup A, Tang S, van Gassen KLI, Juusola J, Foss K, Enns GM, Moog U, Hinderhofer K, Paramasivam N, Lincoln S, Kusako BH, Lindenbaum P, Charpentier E, Nowak CB, Cherot E, Simonet T, Ruivenkamp CAL, Hahn S, Brownstein CA, Xia F, Schmitt S, Deb W, Bonneau D, Nizon M, Quinquis D, Chelly J, Rudolf G, Sanlaville D, Parent P, Gilbert-Dussardier B, Toutain A, Sutton VR, Thies J, Peart-Vissers LELM, Boisseau P, Vincent M, Grabrucker AM, Dubourg C; Undiagnosed Diseases Network, Tan WH, Verbeek NE, Granzow M, Santen GWE, Shendure J, Isidor B, Pasquier L, Redon R, Yang Y, State MW, Kleefstra T, Cogne B; GEM HUGO; Deciphering Developmental Disorders Study, Petrovski S, Retterer K, Eichler EE, Rosenfeld JA, Agrawal PB, Bezieau S, Odent S, Elgersma Y, Mercier S. (2017). De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. Am J Hum Genet Nov 2;101(5):768-788. doi: 10.1016/j.ajhg.2017.10.003.
A 3-way hybrid approach to generate a new high quality chimpanzee reference genome (Pan_tro_3
Kuderna LFK, Tomlinson C, Hillier LW, Tran A, Fiddes I, Armstrong J, Laayouni H, Gordon D, Huddleston J, Perez RG, Povolotskaya I, Armero AS, Garrido JG, Ho D, Ribeca P, Alioto T, Green RE, Paten B, Navarro A, Betranpetit J, Herrero J, Eichler EE, Sharp AJ, Feuk L, Warren WC, Marques-Bonet T. (2017). A 3-way hybrid approach to generate a new high quality chimpanzee reference genome (Pan_tro_3.0). Gigascience Nov 1;6(11):1-6.
Prospective investigation of FOXP1 syndrome
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, Kolevzon A, Buxbaum JD. (2017). Prospective investigation of FOXP1 syndrome. Mol Autism Oct 24;8:57.
Clinical phenotype of ASD-associated DYRK1A haploinsufficiency
Earl RK, Turner TN, Mefford HC, Hudac CM, Gerdts J, Eichler EE, Bernier RA. (2017). Clinical phenotype of ASD-associated DYRK1A haploinsufficiency. Mol Autism Oct 5;8:54.
A high-coverage Neandertal genome from Vindija Cave in Croatia
Prufer K, de Filippo C, Grote S, Mafessoni F, Korlevic P, Hajdinjak M, Vernot B, Skov L, Hsieh P, Peyregne S, Reher D, Hopfe C, Nagel S, Maricic T, Fu Q, Theunert C, Rogers R, Skoglund P, Chintalapati M, Dannemann M, Nelson BJ, Key FM, Rudan P, Kucan Z, Gusic I, Golovanova LV, Doronichev VB, Patterson N, Reich D, Eichler EE, Slatkin M, Schierup MH, Andres A, Kelso J, Meyer M, Paabo S. (2017). A high-coverage Neandertal genome from Vindija Cave in Croatia. Science Nov 3;358(6363):655-658.
Genomic Patterns of De Novo Mutation in Simplex Autism
Turner TN, Coe BP, Dickel DE, Hoekzema K, Nelson BJ, Zody MC, Kronenberg ZN, Hormozdiari F, Raja A, Pennacchio LA, Darnell RB, Eichler EE. (2017). Genomic Patterns of De Novo Mutation in Simplex Autism. Cell Oct 19;171(3):710-722.e12.
Comorbid symptoms of inattention, autism, and executive cognition in youth with putative genetic risk
Arnett AB, Cairney BE, Wallace AS, Gerdts J, Turner TN, Eichler EE, Bernier RA. (2017). Comorbid symptoms of inattention, autism, and executive cognition in youth with putative genetic risk. J Child Psychol Psychiatry Mar;59(3):268-276.
Resolving multicopy duplications de novo using polyploid phasing
Chaisson MJ, Mukherjee S, Kannan S, Eichler EE. (2017). Resolving multicopy duplications de novo using polyploid phasing. Res Comput Mol Biol May;10229:117-133.
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains
Geisheker MR, Heymann G, Wang T, Coe BP, Turner TN, Stessman HAF, Hoekzema K, Kvarnung M, Shaw M, Friend K, Liebelt J, Barnett C, Thompson EM, Haan E, Guo H, Anderlid BM, Nordgren A, Lindstrand A, Vandeweyer G, Alberti A, Avola E, Vinci M, Giusto S, Pramparo T, Pierce K, Nalabolu S, Michaelson JJ, Sedlacek Z, Santen GWE, Peeters H, Hakonarson H, Courchesne E, Romano C, Kooy RF, Bernier RA, Nordenskjöld M, Gecz J, Xia K, Zweifel LS,Eichler EE. (2017). Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains. Nat Neurosci Aug;20(8):1043-1051.
