Mouakkad-Montoya L, Murata MM, Sulovari A, Suzuki R, Osia B, Malkova A, Katsumata M, Giuliano AE, Eichler EE, Tanaka H. (2021). Quantitative assessment reveals the dominance of duplicated sequences in germline-derived extrachromosomal circular DNA. Proc Natl Acad Sci U S A Nov 23;118(47):e2102842118.
Blog Archives
Single-cell epigenomics reveals mechanisms of human cortical development
Ziffra RS, Kim CN, Ross JM, Wilfert A, Turner TN, Haeussler M, Casella AM, Przytycki PF, Keough KC, Shin D, Bogdanoff D, Kreimer A, Pollard KS, Ament SA, Eichler EE, Ahituv N, Nowakowski TJ. (2021). Single-cell epigenomics reveals mechanisms of human cortical development. Nature Oct;598(7879):205-213.
Alpha satellite insertion close to an ancestral centromeric region
Giannuzzi G, Logsdon GA, Chatron N, Miller DE, Reversat J, Munson KM, Hoekzema K, Bonnet-Dupeyron MN, Rollat-Farnier PA, Baker CA, Sanlaville D, Eichler EE, Schluth-Bolard C, Reymond A. (2021). Alpha satellite insertion close to an ancestral centromeric region. Mol Biol Evol Dec 9;38(12):5576-5587.
Evidence for opposing selective forces operating on human-specific duplicated TCAF genes in Neanderthals and humans
Hsieh P, Dang V, Vollger MR, Mao Y, Huang TH, Dishuck PC, Baker C, Cantsilieris S, Lewis AP, Munson KM, Sorensen M, Welch AE, Underwood JG, Eichler EE. (2021). Evidence for opposing selective forces operating on human-specific duplicated TCAF genes in Neanderthals and humans. Nat Commun Aug 25;12(1):5118.
Recent ultra-rare inherited variants implicate new autism candidate risk genes
Wilfert AB, Turner TN, Murali SC, Hsieh P, Sulovari A, Wang T, Coe BP, Guo H, Hoekzema K, Bakken TE, Winterkorn LH, Evani US, Byrska-Bishop M, Earl RK, Bernier RA; SPARK Consortium, Zody MC, Eichler EE. (2021). Recent ultra-rare inherited variants implicate new autism candidate risk genes. Nat Genet Aug;53(8):1125-1134.
Differences in the number of de novo mutations between individuals are due to small family-specific effects and stochasticity
Goldmann JM, Hampstead JE, Wong WSW, Wilfert AB, Turner TN, Jonker MA, Bernier R, Huynen MA, Eichler EE, Veltman JA, Maxwell GL, Gilissen C. (2021). Differences in the number of de novo mutations between individuals are due to small family-specific effects and stochasticity. Genome Res Sep;31(9):1513-1518.
Characterizing nucleotide variation and expansion dynamics in human-specific variable number tandem repeats
Course MM, Sulovari A, Gudsnuk K, Eichler EE, Valdmanis PN. (2021). Characterizing nucleotide variation and expansion dynamics in human-specific variable number tandem repeats. Genome Res Aug;31(8):1313-1324.
Targeted long-read sequencing identifies missing disease-causing variation
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, Bonkowski ES, Nelson Z, Squire A, Sikes M, Beckman E, Bennett RL, Earl D, Lee W, Alikmets R, Perlman SJ, Chow P, Hing AV, Wenger TL, Adam MP, Sun A, Lam C, Chang I, Zou X, Austin SL, Huggins E, Safi A, Iyengar AK, Reddy TE, Majoros WH, Allen AS, Crawford GE, Kishnani PS, University of Washington for Mendelian Genomics, King MC, Cherry T, Chong J, Bamshad MJ, Nickerson DA, Mefford HC, Doherty D, Eichler EE. (2021). Targeted long-read sequencing identifies missing disease-causing variation. AJHG Aug 5;108(8):1436-1449.
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome
Cousin MA, Creighton BA, Breau KA, Spillmann RC, Torti E, Dontu S, Tripathi S, Ajit D, Edwards RJ, Afriyie S, Bay JC, Harper KM, Beltran AA, Munoz LJ, Falcon Rodriguez L, Stankewich MC, Person RE, Si Y, Normand EA, Blevins A, May AS, Bier L, Aggarwal V, Mancini GMS, van Slegtenhorst MA, Cremer K, Becker J, Engels H, Aretz S, MacKenzie JJ, Brilstra E, van Gassen KLI, van Jaarsveld RH, Oegema R, Parsons GM, Mark P, Helbig I, McKeown SE, Stratton R, Cogne B, Isidor B, Cacheiro P, Smedley D, Firth HV, Bierhals T, Kloth K, Weiss D, Fairley C, Shieh JT, Kritzer A, Jayakar P, Kurtz-Nelson E, Bernier RA, Wang T, Eichler EE, van de Laar IMBH, McConkie-Rosell A, McDonald MT, Kemppainen J, Lanpher BC, Schultz-Rogers LE, Gunderson LB, Pichurin PN, Yoon G, Zech M, Jech R, Winkelmann J; Undiagnosed Diseases Network; Genomics England Research Consortium, Beltran AS, Zimmermann MT, Temple B, Moy SS, Klee EW, Tan QK, Lorenzo DN. (2021). Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome. Nat Genet Jul;53(7):1006-1021.
Reflections on the genetics-first approach to advancements in molecular genetic and neurobiological research on neurodevelopmental disorders
Arnett AB, Wang T, Eichler EE, Bernier RA. (2021). Reflections on the genetics-first approach to advancements in molecular genetic and neurobiological research on neurodevelopmental disorders. J Neurodev Disord Jun 21;13(1):24.
The CHD8/CHD7/Kismet family links blood-brain barrier glia and serotonin to ASD-associated sleep defects
Coll-Tané M, Gong NN, Belfer SJ, van Renssen LV, Kurtz-Nelson EC, Szuperak M, Eidhof I, van Reijmersdal B, Terwindt I, Durkin J, Verheij MMM, Kim CN, Hudac CM, Nowakowski TJ, Bernier RA, Pillen S, Earl RK, Eichler EE, Kleefstra T, Kayser MS, Schenck A. (2021). The CHD8/CHD7/Kismet family links blood-brain barrier glia and serotonin to ASD-associated sleep defects. Sci Adv Jun 4;7(23):eabe2626.
Sleep Problems in Children with ASD and Gene Disrupting Mutations
Earl RK, Ward T, Gerdts J, Eichler EE, Bernier RA, Hudac CM. (2021). Sleep Problems in Children with ASD and Gene Disrupting Mutations. J Genet Psychol Sep-Oct;182(5):317-334.
