Harvard Catalyst Profiles

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Michael Edward Talkowski, Ph.D.

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Research
research activities and funding
The research activities and funding listed below are automatically derived from NIH ExPORTER and other sources, which might result in incorrect or missing items. Faculty can login to make corrections and additions.
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  1. R01HD105266 (TALKOWSKI, MICHAEL E) Sep 22, 2021 - Aug 31, 2025
    NIH
    The Genomic Architecture of Pregnancy Loss
    Role: Principal Investigator
  2. U01HG011755 (O'DONNELL-LURIA, ANNE) Jun 1, 2021 - Mar 31, 2026
    NIH
    Broad Institute Mendelian Genomic Research Center
    Role: Co-Principal Investigator
  3. R01MH123155 (BRENNAND, KRISTEN JENNIFER) May 20, 2021 - Mar 31, 2026
    NIH
    Functional convergence following disruption of diverse genes associated with neurodevelopmental disorders
    Role: Co-Principal Investigator
  4. R03HD099547 (TALKOWSKI, MICHAEL E) Sep 1, 2019 - Aug 31, 2021
    NIH
    Exploring the genetic architecture of structural birth defects
    Role: Principal Investigator
  5. R01MH115957 (TALKOWSKI, MICHAEL E) Aug 2, 2019 - May 31, 2023
    NIH
    Scalable tool and comprehensive maps to interpret structural variation across the neuropsychiatric spectrum
    Role: Principal Investigator

Bibliographic
selected publications
Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
  1. Koenig Z, Yohannes MT, Nkambule LL, Goodrich JK, Kim HA, Zhao X, Wilson MW, Tiao G, Hao SP, Sahakian N, Chao KR, Talkowski ME, Daly MJ, Brand H, Karczewski KJ, Atkinson EG, Martin AR. A harmonized public resource of deeply sequenced diverse human genomes. bioRxiv. 2023 Feb 02. PMID: 36747613; PMCID: PMC9900804.
    Citations:    
  2. Billingsley KJ, Ding J, Jerez PA, Illarionova A, Levine K, Grenn FP, Makarious MB, Moore A, Vitale D, Reed X, Hernandez D, Torkamani A, Ryten M, Hardy J, Chia R, Scholz SW, Traynor BJ, Dalgard CL, Ehrlich DJ, Tanaka T, Ferrucci L, Beach TG, Serrano GE, Quinn JP, Bubb VJ, Collins RL, Zhao X, Walker M, Pierce-Hoffman E, Brand H, Talkowski ME, Casey B, Cookson MR, Markham A, Nalls MA, Mahmoud M, Sedlazeck FJ, Blauwendraat C, Gibbs JR, Singleton AB. Genome-Wide Analysis of Structural Variants in Parkinson Disease. Ann Neurol. 2023 Jan 25. PMID: 36695634.
    Citations:    Fields:    
  3. Wojcik MH, Reuter CM, Marwaha S, Mahmoud M, Duyzend MH, Barseghyan H, Yuan B, Boone PM, Groopman EE, Délot EC, Jain D, Sanchis-Juan A, Diseases GRTETGOR, Starita LM, Talkowski M, Montgomery SB, Bamshad MJ, Chong JX, Wheeler MT, Berger SI, O'Donnell-Luria A, Sedlazeck FJ, Miller DE. Beyond the exome: what's next in diagnostic testing for Mendelian conditions. ArXiv. 2023 Jan 18. PMID: 36713248; PMCID: PMC9882576.
    Citations:    
  4. Kerschbamer E, Arnoldi M, Tripathi T, Pellegrini M, Maturi S, Erdin S, Salviato E, Di Leva F, Sebestyén E, Dassi E, Zarantonello G, Benelli M, Campos E, Basson MA, Gusella JF, Gustincich S, Piazza S, Demichelis F, Talkowski ME, Ferrari F, Biagioli M. CHD8 suppression impacts on histone H3 lysine 36 trimethylation and alters RNA alternative splicing. Nucleic Acids Res. 2022 12 09; 50(22):12809-12828. PMID: 36537238; PMCID: PMC9825192.
    Citations:    Fields:    Translation:HumansCells
  5. Parnell E, Culotta L, Forrest MP, Jalloul HA, Eckman BL, Loizzo DD, Horan KKE, Dos Santos M, Piguel NH, Tai DJC, Zhang H, Gertler TS, Simkin D, Sanders AR, Talkowski ME, Gejman PV, Kiskinis E, Duan J, Penzes P. Excitatory Dysfunction Drives Network and Calcium Handling Deficits in 16p11.2 Duplication Schizophrenia Induced Pluripotent Stem Cell-Derived Neurons. Biol Psychiatry. 2022 Nov 09. PMID: 36581494.
    Citations:    Fields:    
  6. Weiner DJ, Ling E, Erdin S, Tai DJC, Yadav R, Grove J, Fu JM, Nadig A, Carey CE, Baya N, Bybjerg-Grauholm J, Berretta S, Macosko EZ, Sebat J, O'Connor LJ, Hougaard DM, Børglum AD, Talkowski ME, McCarroll SA, Robinson EB. Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p. Nat Genet. 2022 11; 54(11):1630-1639. PMID: 36280734; PMCID: PMC9649437.
    Citations: 1     Fields:    Translation:HumansCells
  7. Mohajeri K, Yadav R, D'haene E, Boone PM, Erdin S, Gao D, Moyses-Oliveira M, Bhavsar R, Currall BB, O'Keefe K, Burt ND, Lowther C, Lucente D, Salani M, Larson M, Redin C, Dudchenko O, Aiden EL, Menten B, Tai DJC, Gusella JF, Vergult S, Talkowski ME. Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models. Am J Hum Genet. 2022 11 03; 109(11):2049-2067. PMID: 36283406; PMCID: PMC9674968.
    Citations: 2     Fields:    Translation:HumansCells
  8. Tai DJC, Razaz P, Erdin S, Gao D, Wang J, Nuttle X, de Esch CE, Collins RL, Currall BB, O'Keefe K, Burt ND, Yadav R, Wang L, Mohajeri K, Aneichyk T, Ragavendran A, Stortchevoi A, Morini E, Ma W, Lucente D, Hastie A, Kelleher RJ, Perlis RH, Talkowski ME, Gusella JF. Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models. Am J Hum Genet. 2022 10 06; 109(10):1789-1813. PMID: 36152629; PMCID: PMC9606388.
    Citations:    Fields:    Translation:HumansAnimalsCells
  9. Byrska-Bishop M, Evani US, Zhao X, Basile AO, Abel HJ, Regier AA, Corvelo A, Clarke WE, Musunuri R, Nagulapalli K, Fairley S, Runnels A, Winterkorn L, Lowy E, Germer S, Brand H, Hall IM, Talkowski ME, Narzisi G, Zody MC. High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios. Cell. 2022 09 01; 185(18):3426-3440.e19. PMID: 36055201; PMCID: PMC9439720.
    Citations: 37     Fields:    Translation:Humans
  10. Kuo SS, van der Merwe C, Fu JM, Carey CE, Talkowski ME, Bishop SL, Robinson EB. Developmental Variability in Autism Across 17?000 Autistic Individuals and 4000 Siblings Without an Autism Diagnosis: Comparisons by Cohort, Intellectual Disability, Genetic Etiology, and Age at Diagnosis. JAMA Pediatr. 2022 09 01; 176(9):915-923. PMID: 35849387; PMCID: PMC9295026.
    Citations:    Fields:    
  11. Fu JM, Satterstrom FK, Peng M, Brand H, Collins RL, Dong S, Wamsley B, Klei L, Wang L, Hao SP, Stevens CR, Cusick C, Babadi M, Banks E, Collins B, Dodge S, Gabriel SB, Gauthier L, Lee SK, Liang L, Ljungdahl A, Mahjani B, Sloofman L, Smirnov AN, Barbosa M, Betancur C, Brusco A, Chung BHY, Cook EH, Cuccaro ML, Domenici E, Ferrero GB, Gargus JJ, Herman GE, Hertz-Picciotto I, Maciel P, Manoach DS, Passos-Bueno MR, Persico AM, Renieri A, Sutcliffe JS, Tassone F, Trabetti E, Campos G, Cardaropoli S, Carli D, Chan MCY, Fallerini C, Giorgio E, Girardi AC, Hansen-Kiss E, Lee SL, Lintas C, Ludena Y, Nguyen R, Pavinato L, Pericak-Vance M, Pessah IN, Schmidt RJ, Smith M, Costa CIS, Trajkova S, Wang JYT, Yu MHC, Cutler DJ, De Rubeis S, Buxbaum JD, Daly MJ, Devlin B, Roeder K, Sanders SJ, Talkowski ME. Rare coding variation provides insight into the genetic architecture and phenotypic context of autism. Nat Genet. 2022 09; 54(9):1320-1331. PMID: 35982160; PMCID: PMC9653013.
    Citations: 11     Fields:    Translation:Humans
  12. Collins RL, Glessner JT, Porcu E, Lepamets M, Brandon R, Lauricella C, Han L, Morley T, Niestroj LM, Ulirsch J, Everett S, Howrigan DP, Boone PM, Fu J, Karczewski KJ, Kellaris G, Lowther C, Lucente D, Mohajeri K, Nõukas M, Nuttle X, Samocha KE, Trinh M, Ullah F, Võsa U, Hurles ME, Aradhya S, Davis EE, Finucane H, Gusella JF, Janze A, Katsanis N, Matyakhina L, Neale BM, Sanders D, Warren S, Hodge JC, Lal D, Ruderfer DM, Meck J, Mägi R, Esko T, Reymond A, Kutalik Z, Hakonarson H, Sunyaev S, Brand H, Talkowski ME. A cross-disorder dosage sensitivity map of the human genome. Cell. 2022 08 04; 185(16):3041-3055.e25. PMID: 35917817; PMCID: PMC9742861.
    Citations: 10     Fields:    Translation:Humans
  13. Stamou MI, Brand H, Wang M, Wong I, Lippincott MF, Plummer L, Crowley WF, Talkowski M, Seminara S, Balasubramanian R. Prevalence and Phenotypic Effects of Copy Number Variants in Isolated Hypogonadotropic Hypogonadism. J Clin Endocrinol Metab. 2022 07 14; 107(8):2228-2242. PMID: 35574646; PMCID: PMC9282252.
    Citations: 1     Fields:    Translation:Humans
  14. Zhao B, Madden JA, Lin J, Berry GT, Wojcik MH, Zhao X, Brand H, Talkowski M, Lee EA, Agrawal PB. A neurodevelopmental disorder caused by a novel de novo SVA insertion in exon 13 of the SRCAP gene. Eur J Hum Genet. 2022 09; 30(9):1083-1087. PMID: 35768521; PMCID: PMC9437004.
    Citations:    Fields:    
  15. Lim ET, Chan Y, Dawes P, Guo X, Erdin S, Tai DJC, Liu S, Reichert JM, Burns MJ, Chan YK, Chiang JJ, Meyer K, Zhang X, Walsh CA, Yankner BA, Raychaudhuri S, Hirschhorn JN, Gusella JF, Talkowski ME, Church GM. Orgo-Seq integrates single-cell and bulk transcriptomic data to identify cell type specific-driver genes associated with autism spectrum disorder. Nat Commun. 2022 06 10; 13(1):3243. PMID: 35688811; PMCID: PMC9187732.
    Citations:    Fields:    Translation:HumansCells
  16. Wigdor EM, Weiner DJ, Grove J, Fu JM, Thompson WK, Carey CE, Baya N, van der Merwe C, Walters RK, Satterstrom FK, Palmer DS, Rosengren A, Bybjerg-Grauholm J, Hougaard DM, Mortensen PB, Daly MJ, Talkowski ME, Sanders SJ, Bishop SL, Børglum AD, Robinson EB. The female protective effect against autism spectrum disorder. Cell Genom. 2022 Jun 08; 2(6):100134. PMID: 36778135; PMCID: PMC9903803.
    Citations: 2     
  17. Morini E, Gao D, Logan EM, Salani M, Krauson AJ, Chekuri A, Chen YT, Ragavendran A, Chakravarty P, Erdin S, Stortchevoi A, Svejstrup JQ, Talkowski ME, Slaugenhaupt SA. Developmental regulation of neuronal gene expression by Elongator complex protein 1 dosage. J Genet Genomics. 2022 07; 49(7):654-665. PMID: 34896608; PMCID: PMC9254147.
    Citations: 2     Fields:    Translation:HumansAnimals
  18. Domingo A, Yadav R, Shah S, Hendriks WT, Erdin S, Gao D, O'Keefe K, Currall B, Gusella JF, Sharma N, Ozelius LJ, Ehrlich ME, Talkowski ME, Bragg DC. Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelin. Am J Hum Genet. 2021 11 04; 108(11):2145-2158. PMID: 34672987; PMCID: PMC8595948.
    Citations:    Fields:    Translation:HumansAnimalsCells
  19. Mahjani B, De Rubeis S, Gustavsson Mahjani C, Mulhern M, Xu X, Klei L, Satterstrom FK, Fu J, Talkowski ME, Reichenberg A, Sandin S, Hultman CM, Grice DE, Roeder K, Devlin B, Buxbaum JD. Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder. Mol Autism. 2021 10 06; 12(1):65. PMID: 34615535; PMCID: PMC8495954.
    Citations: 2     Fields:    Translation:Humans
  20. Gudmundsson S, Karczewski KJ, Francioli LC, Tiao G, Cummings BB, Alföldi J, Wang Q, Collins RL, Laricchia KM, Ganna A, Birnbaum DP, Gauthier LD, Brand H, Solomonson M, Watts NA, Rhodes D, Singer-Berk M, England EM, Seaby EG, Kosmicki JA, Walters RK, Tashman K, Farjoun Y, Banks E, Poterba T, Wang A, Seed C, Whiffin N, Chong JX, Samocha KE, Pierce-Hoffman E, Zappala Z, O'Donnell-Luria AH, Minikel EV, Weisburd B, Lek M, Ware JS, Vittal C, Armean IM, Bergelson L, Cibulskis K, Connolly KM, Covarrubias M, Donnelly S, Ferriera S, Gabriel S, Gentry J, Gupta N, Jeandet T, Kaplan D, Llanwarne C, Munshi R, Novod S, Petrillo N, Roazen D, Ruano-Rubio V, Saltzman A, Schleicher M, Soto J, Tibbetts K, Tolonen C, Wade G, Talkowski ME, Neale BM, Daly MJ, MacArthur DG. Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2021 09; 597(7874):E3-E4. PMID: 34373650; PMCID: PMC8410591.
    Citations: 4     Fields:    
  21. Keen KL, Petersen AJ, Figueroa AG, Fordyce BI, Shin J, Yadav R, Erdin S, Pearce RA, Talkowski ME, Bhattacharyya A, Terasawa E. Physiological Characterization and Transcriptomic Properties of GnRH Neurons Derived From Human Stem Cells. Endocrinology. 2021 09 01; 162(9). PMID: 34125902; PMCID: PMC8294693.
    Citations: 1     Fields:    Translation:HumansCells
  22. Rodriguez S, Sahin A, Schrank BR, Al-Lawati H, Costantino I, Benz E, Fard D, Albers AD, Cao L, Gomez AC, Evans K, Ratti E, Cudkowicz M, Frosch MP, Talkowski M, Sorger PK, Hyman BT, Albers MW. Genome-encoded cytoplasmic double-stranded RNAs, found in C9ORF72 ALS-FTD brain, propagate neuronal loss. Sci Transl Med. 2021 07 07; 13(601). PMID: 34233951; PMCID: PMC8779652.
    Citations: 3     Fields:    Translation:HumansAnimalsCells
  23. Gao D, Morini E, Salani M, Krauson AJ, Chekuri A, Sharma N, Ragavendran A, Erdin S, Logan EM, Li W, Dakka A, Narasimhan J, Zhao X, Naryshkin N, Trotta CR, Effenberger KA, Woll MG, Gabbeta V, Karp G, Yu Y, Johnson G, Paquette WD, Cutting GR, Talkowski ME, Slaugenhaupt SA. A deep learning approach to identify gene targets of a therapeutic for human splicing disorders. Nat Commun. 2021 06 07; 12(1):3332. PMID: 34099697.
    Citations: 3     Fields:    Translation:HumansAnimalsCells
  24. Wahlster L, Verboon JM, Ludwig LS, Black SC, Luo W, Garg K, Voit RA, Collins RL, Garimella K, Costello M, Chao KR, Goodrich JK, DiTroia SP, O'Donnell-Luria A, Talkowski ME, Michelson AD, Cantor AB, Sankaran VG. Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcript. J Exp Med. 2021 06 07; 218(6). PMID: 33857290; PMCID: PMC8056752.
    Citations: 5     Fields:    Translation:HumansCells
  25. Sundberg M, Pinson H, Smith RS, Winden KD, Venugopal P, Tai DJC, Gusella JF, Talkowski ME, Walsh CA, Tegmark M, Sahin M. 16p11.2 deletion is associated with hyperactivation of human iPSC-derived dopaminergic neuron networks and is rescued by RHOA inhibition in vitro. Nat Commun. 2021 05 18; 12(1):2897. PMID: 34006844; PMCID: PMC8131375.
    Citations: 2     Fields:    Translation:HumansCells
  26. Zhao X, Collins RL, Lee WP, Weber AM, Jun Y, Zhu Q, Weisburd B, Huang Y, Audano PA, Wang H, Walker M, Lowther C, Fu J, Gerstein MB, Devine SE, Marschall T, Korbel JO, Eichler EE, Chaisson MJP, Lee C, Mills RE, Brand H, Talkowski ME. Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies. Am J Hum Genet. 2021 05 06; 108(5):919-928. PMID: 33789087; PMCID: PMC8206509.
    Citations: 10     Fields:    Translation:HumansCells
  27. Belyeu JR, Brand H, Wang H, Zhao X, Pedersen BS, Feusier J, Gupta M, Nicholas TJ, Brown J, Baird L, Devlin B, Sanders SJ, Jorde LB, Talkowski ME, Quinlan AR. De novo structural mutation rates and gamete-of-origin biases revealed through genome sequencing of 2,396 families. Am J Hum Genet. 2021 04 01; 108(4):597-607. PMID: 33675682; PMCID: PMC8059337.
    Citations: 9     Fields:    Translation:HumansCells
  28. Brennand KJ, Talkowski ME. Xenopus models suggest convergence of gene signatures on neurogenesis in autism. Neuron. 2021 03 03; 109(5):743-745. PMID: 33662268.
    Citations:    Fields:    Translation:Animals
  29. Ebert P, Audano PA, Zhu Q, Rodriguez-Martin B, Porubsky D, Bonder MJ, Sulovari A, Ebler J, Zhou W, Serra Mari R, Yilmaz F, Zhao X, Hsieh P, Lee J, Kumar S, Lin J, Rausch T, Chen Y, Ren J, Santamarina M, Höps W, Ashraf H, Chuang NT, Yang X, Munson KM, Lewis AP, Fairley S, Tallon LJ, Clarke WE, Basile AO, Byrska-Bishop M, Corvelo A, Evani US, Lu TY, Chaisson MJP, Chen J, Li C, Brand H, Wenger AM, Ghareghani M, Harvey WT, Raeder B, Hasenfeld P, Regier AA, Abel HJ, Hall IM, Flicek P, Stegle O, Gerstein MB, Tubio JMC, Mu Z, Li YI, Shi X, Hastie AR, Ye K, Chong Z, Sanders AD, Zody MC, Talkowski ME, Mills RE, Devine SE, Lee C, Korbel JO, Marschall T, Eichler EE. Haplotype-resolved diverse human genomes and integrated analysis of structural variation. Science. 2021 04 02; 372(6537). PMID: 33632895; PMCID: PMC8026704.
    Citations: 72     Fields:    Translation:HumansCells
  30. Karczewski KJ, Francioli LC, Tiao G, Cummings BB, Alföldi J, Wang Q, Collins RL, Laricchia KM, Ganna A, Birnbaum DP, Gauthier LD, Brand H, Solomonson M, Watts NA, Rhodes D, Singer-Berk M, England EM, Seaby EG, Kosmicki JA, Walters RK, Tashman K, Farjoun Y, Banks E, Poterba T, Wang A, Seed C, Whiffin N, Chong JX, Samocha KE, Pierce-Hoffman E, Zappala Z, O'Donnell-Luria AH, Minikel EV, Weisburd B, Lek M, Ware JS, Vittal C, Armean IM, Bergelson L, Cibulskis K, Connolly KM, Covarrubias M, Donnelly S, Ferriera S, Gabriel S, Gentry J, Gupta N, Jeandet T, Kaplan D, Llanwarne C, Munshi R, Novod S, Petrillo N, Roazen D, Ruano-Rubio V, Saltzman A, Schleicher M, Soto J, Tibbetts K, Tolonen C, Wade G, Talkowski ME, Neale BM, Daly MJ, MacArthur DG. Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2021 Feb; 590(7846):E53. PMID: 33536625; PMCID: PMC8064911.
    Citations: 13     Fields:    
  31. Collins RL, Brand H, Karczewski KJ, Zhao X, Alföldi J, Francioli LC, Khera AV, Lowther C, Gauthier LD, Wang H, Watts NA, Solomonson M, O'Donnell-Luria A, Baumann A, Munshi R, Walker M, Whelan CW, Huang Y, Brookings T, Sharpe T, Stone MR, Valkanas E, Fu J, Tiao G, Laricchia KM, Ruano-Rubio V, Stevens C, Gupta N, Cusick C, Margolin L, Taylor KD, Lin HJ, Rich SS, Post WS, Chen YI, Rotter JI, Nusbaum C, Philippakis A, Lander E, Gabriel S, Neale BM, Kathiresan S, Daly MJ, Banks E, MacArthur DG, Talkowski ME. Author Correction: A structural variation reference for medical and population genetics. Nature. 2021 Feb; 590(7846):E55. PMID: 33536627; PMCID: PMC8064907.
    Citations:    Fields:    
  32. Kousi M, Söylemez O, Ozanturk A, Mourtzi N, Akle S, Jungreis I, Muller J, Cassa CA, Brand H, Mokry JA, Wolf MY, Sadeghpour A, McFadden K, Lewis RA, Talkowski ME, Dollfus H, Kellis M, Davis EE, Sunyaev SR, Katsanis N. Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy. Nat Genet. 2020 11; 52(11):1145-1150. PMID: 33046855; PMCID: PMC8272915.
    Citations: 8     Fields:    Translation:Humans
  33. Kovalenko M, Erdin S, Andrew MA, St Claire J, Shaughnessey M, Hubert L, Neto JL, Stortchevoi A, Fass DM, Mouro Pinto R, Haggarty SJ, Wilson JH, Talkowski ME, Wheeler VC. Histone deacetylase knockouts modify transcription, CAG instability and nuclear pathology in Huntington disease mice. Elife. 2020 09 29; 9. PMID: 32990597.
    Citations: 5     Fields:    Translation:AnimalsCells
  34. Al Ali J, Vaine CA, Shah S, Campion L, Hakoum A, Supnet ML, Acuña P, Aldykiewicz G, Multhaupt-Buell T, Ganza NGM, Lagarde JBB, De Guzman JK, Go C, Currall B, Trombetta B, Webb PK, Talkowski M, Arnold SE, Cheah PS, Ito N, Sharma N, Bragg DC, Ozelius L, Breakefield XO. TAF1 Transcripts and Neurofilament Light Chain as Biomarkers for X-linked Dystonia-Parkinsonism. Mov Disord. 2021 01; 36(1):206-215. PMID: 32975318; PMCID: PMC7891430.
    Citations: 4     Fields:    Translation:HumansCells
  35. Chen H, Victor AK, Klein J, Tacer KF, Tai DJ, de Esch C, Nuttle A, Temirov J, Burnett LC, Rosenbaum M, Zhang Y, Ding L, Moresco JJ, Diedrich JK, Yates JR, Tillman HS, Leibel RL, Talkowski ME, Billadeau DD, Reiter LT, Potts PR. Loss of MAGEL2 in Prader-Willi syndrome leads to decreased secretory granule and neuropeptide production. JCI Insight. 2020 09 03; 5(17). PMID: 32879135.
    Citations: 9     Fields:    Translation:HumansAnimalsCells
  36. Moyses-Oliveira M, Yadav R, Erdin S, Talkowski ME. New gene discoveries highlight functional convergence in autism and related neurodevelopmental disorders. Curr Opin Genet Dev. 2020 12; 65:195-206. PMID: 32846283.
    Citations: 13     Fields:    Translation:HumansAnimals
  37. Hu S, Vich Vila A, Gacesa R, Collij V, Stevens C, Fu JM, Wong I, Talkowski ME, Rivas MA, Imhann F, Bolte L, van Dullemen H, Dijkstra G, Visschedijk MC, Festen EA, Xavier RJ, Fu J, Daly MJ, Wijmenga C, Zhernakova A, Kurilshikov A, Weersma RK. Whole exome sequencing analyses reveal gene-microbiota interactions in the context of IBD. Gut. 2021 02; 70(2):285-296. PMID: 32651235; PMCID: PMC7815889.
    Citations: 9     Fields:    Translation:Humans
  38. Han L, Zhao X, Benton ML, Perumal T, Collins RL, Hoffman GE, Johnson JS, Sloofman L, Wang HZ, Stone MR, Brennand KJ, Brand H, Sieberts SK, Marenco S, Peters MA, Lipska BK, Roussos P, Capra JA, Talkowski M, Ruderfer DM. Functional annotation of rare structural variation in the human brain. Nat Commun. 2020 06 12; 11(1):2990. PMID: 32533064; PMCID: PMC7293301.
    Citations: 11     Fields:    Translation:Humans
  39. Seabra CM, Aneichyk T, Erdin S, Tai DJC, De Esch CEF, Razaz P, An Y, Manavalan P, Ragavendran A, Stortchevoi A, Abad C, Young JI, Maciel P, Talkowski ME, Gusella JF. Transcriptional consequences of MBD5 disruption in mouse brain and CRISPR-derived neurons. Mol Autism. 2020 06 05; 11(1):45. PMID: 32503625; PMCID: PMC7275313.
    Citations: 1     Fields:    Translation:HumansAnimalsCells
  40. Collins RL, Brand H, Karczewski KJ, Zhao X, Alföldi J, Francioli LC, Khera AV, Lowther C, Gauthier LD, Wang H, Watts NA, Solomonson M, O'Donnell-Luria A, Baumann A, Munshi R, Walker M, Whelan CW, Huang Y, Brookings T, Sharpe T, Stone MR, Valkanas E, Fu J, Tiao G, Laricchia KM, Ruano-Rubio V, Stevens C, Gupta N, Cusick C, Margolin L, Taylor KD, Lin HJ, Rich SS, Post WS, Chen YI, Rotter JI, Nusbaum C, Philippakis A, Lander E, Gabriel S, Neale BM, Kathiresan S, Daly MJ, Banks E, MacArthur DG, Talkowski ME. A structural variation reference for medical and population genetics. Nature. 2020 05; 581(7809):444-451. PMID: 32461652; PMCID: PMC7334194.
    Citations: 152     Fields:    Translation:Humans
  41. Karczewski KJ, Francioli LC, Tiao G, Cummings BB, Alföldi J, Wang Q, Collins RL, Laricchia KM, Ganna A, Birnbaum DP, Gauthier LD, Brand H, Solomonson M, Watts NA, Rhodes D, Singer-Berk M, England EM, Seaby EG, Kosmicki JA, Walters RK, Tashman K, Farjoun Y, Banks E, Poterba T, Wang A, Seed C, Whiffin N, Chong JX, Samocha KE, Pierce-Hoffman E, Zappala Z, O'Donnell-Luria AH, Minikel EV, Weisburd B, Lek M, Ware JS, Vittal C, Armean IM, Bergelson L, Cibulskis K, Connolly KM, Covarrubias M, Donnelly S, Ferriera S, Gabriel S, Gentry J, Gupta N, Jeandet T, Kaplan D, Llanwarne C, Munshi R, Novod S, Petrillo N, Roazen D, Ruano-Rubio V, Saltzman A, Schleicher M, Soto J, Tibbetts K, Tolonen C, Wade G, Talkowski ME, Neale BM, Daly MJ, MacArthur DG. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2020 05; 581(7809):434-443. PMID: 32461654; PMCID: PMC7334197.
    Citations: 1726     Fields:    Translation:Humans
  42. Werling DM, Pochareddy S, Choi J, An JY, Sheppard B, Peng M, Li Z, Dastmalchi C, Santpere G, Sousa AMM, Tebbenkamp ATN, Kaur N, Gulden FO, Breen MS, Liang L, Gilson MC, Zhao X, Dong S, Klei L, Cicek AE, Buxbaum JD, Adle-Biassette H, Thomas JL, Aldinger KA, O'Day DR, Glass IA, Zaitlen NA, Talkowski ME, Roeder K, State MW, Devlin B, Sanders SJ, Sestan N. Whole-Genome and RNA Sequencing Reveal Variation and Transcriptomic Coordination in the Developing Human Prefrontal Cortex. Cell Rep. 2020 04 07; 31(1):107489. PMID: 32268104.
    Citations: 29     Fields:    Translation:HumansCells
  43. Stamou M, Ng SY, Brand H, Wang H, Plummer L, Best L, Havlicek S, Hibberd M, Khor CC, Gusella J, Balasubramanian R, Talkowski M, Stanton LW, Crowley WF. A Balanced Translocation in Kallmann Syndrome Implicates a Long Noncoding RNA, RMST, as a GnRH Neuronal Regulator. J Clin Endocrinol Metab. 2020 03 01; 105(3). PMID: 31628846; PMCID: PMC7112981.
    Citations: 9     Fields:    Translation:HumansCells
  44. Satterstrom FK, Kosmicki JA, Wang J, Breen MS, De Rubeis S, An JY, Peng M, Collins R, Grove J, Klei L, Stevens C, Reichert J, Mulhern MS, Artomov M, Gerges S, Sheppard B, Xu X, Bhaduri A, Norman U, Brand H, Schwartz G, Nguyen R, Guerrero EE, Dias C, Betancur C, Cook EH, Gallagher L, Gill M, Sutcliffe JS, Thurm A, Zwick ME, Børglum AD, State MW, Cicek AE, Talkowski ME, Cutler DJ, Devlin B, Sanders SJ, Roeder K, Daly MJ, Buxbaum JD. Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism. Cell. 2020 02 06; 180(3):568-584.e23. PMID: 31981491.
    Citations: 443     Fields:    Translation:HumansCells
  45. McClain L, Mansour H, Ibrahim I, Klei L, Fathi W, Wood J, Kodavali C, Maysterchuk A, Wood S, El-Chennawi F, Ibrahim N, Eissa A, El-Bahaei W, El Sayed H, Yassein A, Tobar S, El-Boraie H, El-Sheshtawy E, Salah H, Ali A, Erdin S, Devlin B, Talkowski M, Nimgaonkar V. Age dependent association of inbreeding with risk for schizophrenia in Egypt. Schizophr Res. 2020 02; 216:450-459. PMID: 31928911; PMCID: PMC8054776.
    Citations: 1     Fields:    Translation:Humans
  46. Martin P, Wagh V, Reis SA, Erdin S, Beauchamp RL, Shaikh G, Talkowski M, Thiele E, Sheridan SD, Haggarty SJ, Ramesh V. TSC patient-derived isogenic neural progenitor cells reveal altered early neurodevelopmental phenotypes and rapamycin-induced MNK-eIF4E signaling. Mol Autism. 2020; 11(1):2. PMID: 31921404; PMCID: PMC6945400.
    Citations: 8     Fields:    Translation:HumansCells
  47. Schilit SLP, Menon S, Friedrich C, Kammin T, Wilch E, Hanscom C, Jiang S, Kliesch S, Talkowski ME, Tüttelmann F, MacQueen AJ, Morton CC. SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male Infertility. Am J Hum Genet. 2020 01 02; 106(1):41-57. PMID: 31866047.
    Citations: 25     Fields:    Translation:Humans
  48. Middelkamp S, Vlaar JM, Giltay J, Korzelius J, Besselink N, Boymans S, Janssen R, de la Fonteijne L, van Binsbergen E, van Roosmalen MJ, Hochstenbach R, Giachino D, Talkowski ME, Kloosterman WP, Cuppen E. Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variants. Genome Med. 2019 12 04; 11(1):79. PMID: 31801603; PMCID: PMC6894143.
    Citations: 6     Fields:    Translation:Humans
  49. Boone PM, Paterson S, Mohajeri K, Zhu W, Genetti CA, Tai DJC, Nori N, Agrawal PB, Bacino CA, Bi W, Talkowski ME, Hogan BM, Rodan LH. Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome. Am J Med Genet A. 2020 01; 182(1):189-194. PMID: 31633297.
    Citations: 6     Fields:    Translation:HumansAnimals
  50. Wang CY, Brand H, Shaw ND, Talkowski ME, Lee JT. Role of the Chromosome Architectural Factor SMCHD1 in X-Chromosome Inactivation, Gene Regulation, and Disease in Humans. Genetics. 2019 10; 213(2):685-703. PMID: 31420322; PMCID: PMC6781896.
    Citations: 1     Fields:    Translation:HumansAnimalsCells
  51. Toomer KA, Yu M, Fulmer D, Guo L, Moore KS, Moore R, Drayton KD, Glover J, Peterson N, Ramos-Ortiz S, Drohan A, Catching BJ, Stairley R, Wessels A, Lipschutz JH, Delling FN, Jeunemaitre X, Dina C, Collins RL, Brand H, Talkowski ME, Del Monte F, Mukherjee R, Awgulewitsch A, Body S, Hardiman G, Hazard ES, da Silveira WA, Wang B, Leyne M, Durst R, Markwald RR, Le Scouarnec S, Hagege A, Le Tourneau T, Kohl P, Rog-Zielinska EA, Ellinor PT, Levine RA, Milan DJ, Schott JJ, Bouatia-Naji N, Slaugenhaupt SA, Norris RA. Primary cilia defects causing mitral valve prolapse. Sci Transl Med. 2019 05 22; 11(493). PMID: 31118289.
    Citations: 31     Fields:    Translation:HumansAnimalsCells
  52. Arbogast T, Razaz P, Ellegood J, McKinstry SU, Erdin S, Currall B, Aneichyk T, Lerch JP, Qiu LR, Rodriguiz RM, Henkelman RM, Talkowski ME, Wetsel WC, Golzio C, Katsanis N. Kctd13-deficient mice display short-term memory impairment and sex-dependent genetic interactions. Hum Mol Genet. 2019 05 01; 28(9):1474-1486. PMID: 30590535; PMCID: PMC6489413.
    Citations: 9     Fields:    Translation:Animals
  53. Chaisson MJP, Sanders AD, Zhao X, Malhotra A, Porubsky D, Rausch T, Gardner EJ, Rodriguez OL, Guo L, Collins RL, Fan X, Wen J, Handsaker RE, Fairley S, Kronenberg ZN, Kong X, Hormozdiari F, Lee D, Wenger AM, Hastie AR, Antaki D, Anantharaman T, Audano PA, Brand H, Cantsilieris S, Cao H, Cerveira E, Chen C, Chen X, Chin CS, Chong Z, Chuang NT, Lambert CC, Church DM, Clarke L, Farrell A, Flores J, Galeev T, Gorkin DU, Gujral M, Guryev V, Heaton WH, Korlach J, Kumar S, Kwon JY, Lam ET, Lee JE, Lee J, Lee WP, Lee SP, Li S, Marks P, Viaud-Martinez K, Meiers S, Munson KM, Navarro FCP, Nelson BJ, Nodzak C, Noor A, Kyriazopoulou-Panagiotopoulou S, Pang AWC, Qiu Y, Rosanio G, Ryan M, Stütz A, Spierings DCJ, Ward A, Welch AE, Xiao M, Xu W, Zhang C, Zhu Q, Zheng-Bradley X, Lowy E, Yakneen S, McCarroll S, Jun G, Ding L, Koh CL, Ren B, Flicek P, Chen K, Gerstein MB, Kwok PY, Lansdorp PM, Marth GT, Sebat J, Shi X, Bashir A, Ye K, Devine SE, Talkowski ME, Mills RE, Marschall T, Korbel JO, Eichler EE, Lee C. Multi-platform discovery of haplotype-resolved structural variation in human genomes. Nat Commun. 2019 04 16; 10(1):1784. PMID: 30992455; PMCID: PMC6467913.
    Citations: 236     Fields:    Translation:Humans
  54. Khera AV, Chaffin M, Zekavat SM, Collins RL, Roselli C, Natarajan P, Lichtman JH, D'Onofrio G, Mattera J, Dreyer R, Spertus JA, Taylor KD, Psaty BM, Rich SS, Post W, Gupta N, Gabriel S, Lander E, Ida Chen YD, Talkowski ME, Rotter JI, Krumholz HM, Kathiresan S. Whole-Genome Sequencing to Characterize Monogenic and Polygenic Contributions in Patients Hospitalized With Early-Onset Myocardial Infarction. Circulation. 2019 03 26; 139(13):1593-1602. PMID: 30586733; PMCID: PMC6433484.
    Citations: 64     Fields:    Translation:HumansCTClinical Trials
  55. Morini E, Gao D, Montgomery CM, Salani M, Mazzasette C, Krussig TA, Swain B, Dietrich P, Narasimhan J, Gabbeta V, Dakka A, Hedrick J, Zhao X, Weetall M, Naryshkin NA, Wojtkiewicz GG, Ko CP, Talkowski ME, Dragatsis I, Slaugenhaupt SA. ELP1 Splicing Correction Reverses Proprioceptive Sensory Loss in Familial Dysautonomia. Am J Hum Genet. 2019 04 04; 104(4):638-650. PMID: 30905397; PMCID: PMC6451698.
    Citations: 8     Fields:    Translation:HumansAnimalsCells
  56. Murthy V, Tebaldi T, Yoshida T, Erdin S, Calzonetti T, Vijayvargia R, Tripathi T, Kerschbamer E, Seong IS, Quattrone A, Talkowski ME, Gusella JF, Georgopoulos K, MacDonald ME, Biagioli M. Hypomorphic mutation of the mouse Huntington's disease gene orthologue. PLoS Genet. 2019 03; 15(3):e1007765. PMID: 30897080; PMCID: PMC6445486.
    Citations: 6     Fields:    Translation:Animals
  57. Talkowski ME, Rehm HL. Introduction of genomics into prenatal diagnostics. Lancet. 2019 02 23; 393(10173):719-721. PMID: 30712881.
    Citations: 2     Fields:    Translation:Humans
  58. Currall BB, Antolik CW, Collins RL, Talkowski ME. Next Generation Sequencing of Prenatal Structural Chromosomal Rearrangements Using Large-Insert Libraries. Methods Mol Biol. 2019; 1885:251-265. PMID: 30506203.
    Citations:    Fields:    Translation:Humans
  59. An JY, Lin K, Zhu L, Werling DM, Dong S, Brand H, Wang HZ, Zhao X, Schwartz GB, Collins RL, Currall BB, Dastmalchi C, Dea J, Duhn C, Gilson MC, Klei L, Liang L, Markenscoff-Papadimitriou E, Pochareddy S, Ahituv N, Buxbaum JD, Coon H, Daly MJ, Kim YS, Marth GT, Neale BM, Quinlan AR, Rubenstein JL, Sestan N, State MW, Willsey AJ, Talkowski ME, Devlin B, Roeder K, Sanders SJ. Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder. Science. 2018 12 14; 362(6420). PMID: 30545852; PMCID: PMC6432922.
    Citations: 83     Fields:    Translation:HumansCells
  60. Loh PR, Genovese G, Handsaker RE, Finucane HK, Reshef YA, Palamara PF, Birmann BM, Talkowski ME, Bakhoum SF, McCarroll SA, Price AL. Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations. Nature. 2018 07; 559(7714):350-355. PMID: 29995854.
    Citations: 99     Fields:    Translation:HumansCells
  61. Allaway R, Angus SP, Beauchamp RL, Blakeley JO, Bott M, Burns SS, Carlstedt A, Chang LS, Chen X, Clapp DW, Desouza PA, Erdin S, Fernandez-Valle C, Guinney J, Gusella JF, Haggarty SJ, Johnson GL, La Rosa S, Morrison H, Petrilli AM, Plotkin SR, Pratap A, Ramesh V, Sciaky N, Stemmer-Rachamimov A, Stuhlmiller TJ, Talkowski ME, Welling DB, Yates CW, Zawistowski JS, Zhao WN. Traditional and systems biology based drug discovery for the rare tumor syndrome neurofibromatosis type 2. PLoS One. 2018; 13(6):e0197350. PMID: 29897904; PMCID: PMC5999111.
    Citations: 8     Fields:    Translation:HumansAnimalsCells
  62. Halgren C, Nielsen NM, Nazaryan-Petersen L, Silahtaroglu A, Collins RL, Lowther C, Kjaergaard S, Frisch M, Kirchhoff M, Brøndum-Nielsen K, Lind-Thomsen A, Mang Y, El-Schich Z, Boring CA, Mehrjouy MM, Jensen PKA, Fagerberg C, Krogh LN, Hansen J, Bryndorf T, Hansen C, Talkowski ME, Bak M, Tommerup N, Bache I. Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes. Am J Hum Genet. 2018 06 07; 102(6):1090-1103. PMID: 29805044.
    Citations: 10     Fields:    Translation:HumansCells
  63. Werling DM, Brand H, An JY, Stone MR, Zhu L, Glessner JT, Collins RL, Dong S, Layer RM, Markenscoff-Papadimitriou E, Farrell A, Schwartz GB, Wang HZ, Currall BB, Zhao X, Dea J, Duhn C, Erdman CA, Gilson MC, Yadav R, Handsaker RE, Kashin S, Klei L, Mandell JD, Nowakowski TJ, Liu Y, Pochareddy S, Smith L, Walker MF, Waterman MJ, He X, Kriegstein AR, Rubenstein JL, Sestan N, McCarroll SA, Neale BM, Coon H, Willsey AJ, Buxbaum JD, Daly MJ, State MW, Quinlan AR, Marth GT, Roeder K, Devlin B, Talkowski ME, Sanders SJ. An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder. Nat Genet. 2018 04 26; 50(5):727-736. PMID: 29700473.
    Citations: 97     Fields:    Translation:Humans
  64. Aneichyk T, Hendriks WT, Yadav R, Shin D, Gao D, Vaine CA, Collins RL, Domingo A, Currall B, Stortchevoi A, Multhaupt-Buell T, Penney EB, Cruz L, Dhakal J, Brand H, Hanscom C, Antolik C, Dy M, Ragavendran A, Underwood J, Cantsilieris S, Munson KM, Eichler EE, Acuña P, Go C, Jamora RDG, Rosales RL, Church DM, Williams SR, Garcia S, Klein C, Müller U, Wilhelmsen KC, Timmers HTM, Sapir Y, Wainger BJ, Henderson D, Ito N, Weisenfeld N, Jaffe D, Sharma N, Breakefield XO, Ozelius LJ, Bragg DC, Talkowski ME. Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly. Cell. 2018 02 22; 172(5):897-909.e21. PMID: 29474918; PMCID: PMC5831509.
    Citations: 65     Fields:    Translation:HumansCells
  65. Jordan JT, Smith MJ, Walker JA, Erdin S, Talkowski ME, Merker VL, Ramesh V, Cai W, Harris GJ, Bredella MA, Seijo M, Suuberg A, Gusella JF, Plotkin SR. Pain correlates with germline mutation in schwannomatosis. Medicine (Baltimore). 2018 Feb; 97(5):e9717. PMID: 29384852; PMCID: PMC5805424.
    Citations: 5     Fields:    Translation:Humans
  66. Zepeda-Mendoza CJ, Bardon A, Kammin T, Harris DJ, Cox H, Redin C, Ordulu Z, Talkowski ME, Morton CC. Phenotypic interpretation of complex chromosomal rearrangements informed by nucleotide-level resolution and structural organization of chromatin. Eur J Hum Genet. 2018 03; 26(3):374-381. PMID: 29321672; PMCID: PMC5838977.
    Citations: 2     Fields:    Translation:HumansCells
  67. Cretu Stancu M, van Roosmalen MJ, Renkens I, Nieboer MM, Middelkamp S, de Ligt J, Pregno G, Giachino D, Mandrile G, Espejo Valle-Inclan J, Korzelius J, de Bruijn E, Cuppen E, Talkowski ME, Marschall T, de Ridder J, Kloosterman WP. Mapping and phasing of structural variation in patient genomes using nanopore sequencing. Nat Commun. 2017 11 06; 8(1):1326. PMID: 29109544; PMCID: PMC5673902.
    Citations: 120     Fields:    Translation:Humans
  68. Pedersen BS, Collins RL, Talkowski ME, Quinlan AR. Indexcov: fast coverage quality control for whole-genome sequencing. Gigascience. 2017 11 01; 6(11):1-6. PMID: 29048539.
    Citations: 17     Fields:    Translation:Humans
  69. Paulsen BS, Mandal PK, Frock RL, Boyraz B, Yadav R, Upadhyayula S, Gutierrez-Martinez P, Ebina W, Fasth A, Kirchhausen T, Talkowski ME, Agarwal S, Alt FW, Rossi DJ. Ectopic expression of RAD52 and dn53BP1 improves homology-directed repair during CRISPR-Cas9 genome editing. Nat Biomed Eng. 2017 11; 1(11):878-888. PMID: 31015609; PMCID: PMC6918705.
    Citations: 32     Fields:    Translation:HumansCells
  70. Zepeda-Mendoza CJ, Ibn-Salem J, Kammin T, Harris DJ, Rita D, Gripp KW, MacKenzie JJ, Gropman A, Graham B, Shaheen R, Alkuraya FS, Brasington CK, Spence EJ, Masser-Frye D, Bird LM, Spiegel E, Sparkes RL, Ordulu Z, Talkowski ME, Andrade-Navarro MA, Robinson PN, Morton CC. Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements. Am J Hum Genet. 2017 Aug 03; 101(2):206-217. PMID: 28735859; PMCID: PMC5544382.
    Citations: 21     Fields:    Translation:HumansCells
  71. Hennig KM, Fass DM, Zhao WN, Sheridan SD, Fu T, Erdin S, Stortchevoi A, Lucente D, Cody JD, Sweetser D, Gusella JF, Talkowski ME, Haggarty SJ. WNT/ß-Catenin Pathway and Epigenetic Mechanisms Regulate the Pitt-Hopkins Syndrome and Schizophrenia Risk Gene TCF4. Mol Neuropsychiatry. 2017 Jul; 3(1):53-71. PMID: 28879201; PMCID: PMC5582445.
    Citations: 10     
  72. Seabra CM, Szoko N, Erdin S, Ragavendran A, Stortchevoi A, Maciel P, Lundberg K, Schlatzer D, Smith J, Talkowski ME, Gusella JF, Natowicz MR. A novel microduplication of ARID1B: Clinical, genetic, and proteomic findings. Am J Med Genet A. 2017 Sep; 173(9):2478-2484. PMID: 28691782; PMCID: PMC5561488.
    Citations: 4     Fields:    Translation:Humans
  73. Lohmann K, Redin C, Tönnies H, Bressman SB, Subero JIM, Wiegers K, Hinrichs F, Hellenbroich Y, Rakovic A, Raymond D, Ozelius LJ, Schwinger E, Siebert R, Talkowski ME, Saunders-Pullman R, Klein C. Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia. JAMA Neurol. 2017 07 01; 74(7):806-812. PMID: 28558098; PMCID: PMC5710536.
    Citations: 1     Fields:    Translation:Humans
  74. Shaw ND, Brand H, Kupchinsky ZA, Bengani H, Plummer L, Jones TI, Erdin S, Williamson KA, Rainger J, Stortchevoi A, Samocha K, Currall BB, Dunican DS, Collins RL, Willer JR, Lek A, Lek M, Nassan M, Pereira S, Kammin T, Lucente D, Silva A, Seabra CM, Chiang C, An Y, Ansari M, Rainger JK, Joss S, Smith JC, Lippincott MF, Singh SS, Patel N, Jing JW, Law JR, Ferraro N, Verloes A, Rauch A, Steindl K, Zweier M, Scheer I, Sato D, Okamoto N, Jacobsen C, Tryggestad J, Chernausek S, Schimmenti LA, Brasseur B, Cesaretti C, García-Ortiz JE, Buitrago TP, Silva OP, Hoffman JD, Mühlbauer W, Ruprecht KW, Loeys BL, Shino M, Kaindl AM, Cho CH, Morton CC, Meehan RR, van Heyningen V, Liao EC, Balasubramanian R, Hall JE, Seminara SB, Macarthur D, Moore SA, Yoshiura KI, Gusella JF, Marsh JA, Graham JM, Lin AE, Katsanis N, Jones PL, Crowley WF, Davis EE, FitzPatrick DR, Talkowski ME. Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nat Genet. 2017 05 26; 49(6):969. PMID: 28546579.
    Citations:    Fields:    
  75. Collins RL, Brand H, Redin CE, Hanscom C, Antolik C, Stone MR, Glessner JT, Mason T, Pregno G, Dorrani N, Mandrile G, Giachino D, Perrin D, Walsh C, Cipicchio M, Costello M, Stortchevoi A, An JY, Currall BB, Seabra CM, Ragavendran A, Margolin L, Martinez-Agosto JA, Lucente D, Levy B, Sanders SJ, Wapner RJ, Quintero-Rivera F, Kloosterman W, Talkowski ME. Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome. Genome Biol. 2017 03 06; 18(1):36. PMID: 28260531; PMCID: PMC5338099.
    Citations: 64     Fields:    Translation:Humans
  76. Maussion G, Cruceanu C, Rosenfeld JA, Bell SC, Jollant F, Szatkiewicz J, Collins RL, Hanscom C, Kolobova I, de Champfleur NM, Blumenthal I, Chiang C, Ota V, Hultman C, O'Dushlaine C, McCarroll S, Alda M, Jacquemont S, Ordulu Z, Marshall CR, Carter MT, Shaffer LG, Sklar P, Girirajan S, Morton CC, Gusella JF, Turecki G, Stavropoulos DJ, Sullivan PF, Scherer SW, Talkowski ME, Ernst C. Cover Image, Volume 173A, Number 2, February 2017. Am J Med Genet A. 2017 Feb; 173(2):i. PMID: 28102589.
    Citations:    
  77. Jacobsen JC, Erdin S, Chiang C, Hanscom C, Handley RR, Barker DD, Stortchevoi A, Blumenthal I, Reid SJ, Snell RG, MacDonald ME, Morton AJ, Ernst C, Gusella JF, Talkowski ME. Potential molecular consequences of transgene integration: The R6/2 mouse example. Sci Rep. 2017 01 25; 7:41120. PMID: 28120936.
    Citations: 5     Fields:    Translation:HumansAnimals
  78. Shaw ND, Brand H, Kupchinsky ZA, Bengani H, Plummer L, Jones TI, Erdin S, Williamson KA, Rainger J, Stortchevoi A, Samocha K, Currall BB, Dunican DS, Collins RL, Willer JR, Lek A, Lek M, Nassan M, Pereira S, Kammin T, Lucente D, Silva A, Seabra CM, Chiang C, An Y, Ansari M, Rainger JK, Joss S, Smith JC, Lippincott MF, Singh SS, Patel N, Jing JW, Law JR, Ferraro N, Verloes A, Rauch A, Steindl K, Zweier M, Scheer I, Sato D, Okamoto N, Jacobsen C, Tryggestad J, Chernausek S, Schimmenti LA, Brasseur B, Cesaretti C, García-Ortiz JE, Buitrago TP, Silva OP, Hoffman JD, Mühlbauer W, Ruprecht KW, Loeys BL, Shino M, Kaindl AM, Cho CH, Morton CC, Meehan RR, van Heyningen V, Liao EC, Balasubramanian R, Hall JE, Seminara SB, Macarthur D, Moore SA, Yoshiura KI, Gusella JF, Marsh JA, Graham JM, Lin AE, Katsanis N, Jones PL, Crowley WF, Davis EE, FitzPatrick DR, Talkowski ME. SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nat Genet. 2017 Feb; 49(2):238-248. PMID: 28067909.
    Citations: 58     Fields:    Translation:Humans
  79. Wu L, Zhou B, Oshiro-Rapley N, Li M, Paulo JA, Webster CM, Mou F, Kacergis MC, Talkowski ME, Carr CE, Gygi SP, Zheng B, Soukas AA. An Ancient, Unified Mechanism for Metformin Growth Inhibition in C. elegans and Cancer. Cell. 2016 Dec 15; 167(7):1705-1718.e13. PMID: 27984722; PMCID: PMC5390486.
    Citations: 86     Fields:    Translation:HumansAnimalsCells
  80. Redin C, Brand H, Collins RL, Kammin T, Mitchell E, Hodge JC, Hanscom C, Pillalamarri V, Seabra CM, Abbott MA, Abdul-Rahman OA, Aberg E, Adley R, Alcaraz-Estrada SL, Alkuraya FS, An Y, Anderson MA, Antolik C, Anyane-Yeboa K, Atkin JF, Bartell T, Bernstein JA, Beyer E, Blumenthal I, Bongers EM, Brilstra EH, Brown CW, Brüggenwirth HT, Callewaert B, Chiang C, Corning K, Cox H, Cuppen E, Currall BB, Cushing T, David D, Deardorff MA, Dheedene A, D'Hooghe M, de Vries BB, Earl DL, Ferguson HL, Fisher H, FitzPatrick DR, Gerrol P, Giachino D, Glessner JT, Gliem T, Grady M, Graham BH, Griffis C, Gripp KW, Gropman AL, Hanson-Kahn A, Harris DJ, Hayden MA, Hill R, Hochstenbach R, Hoffman JD, Hopkin RJ, Hubshman MW, Innes AM, Irons M, Irving M, Jacobsen JC, Janssens S, Jewett T, Johnson JP, Jongmans MC, Kahler SG, Koolen DA, Korzelius J, Kroisel PM, Lacassie Y, Lawless W, Lemyre E, Leppig K, Levin AV, Li H, Li H, Liao EC, Lim C, Lose EJ, Lucente D, Macera MJ, Manavalan P, Mandrile G, Marcelis CL, Margolin L, Mason T, Masser-Frye D, McClellan MW, Mendoza CJ, Menten B, Middelkamp S, Mikami LR, Moe E, Mohammed S, Mononen T, Mortenson ME, Moya G, Nieuwint AW, Ordulu Z, Parkash S, Pauker SP, Pereira S, Perrin D, Phelan K, Aguilar RE, Poddighe PJ, Pregno G, Raskin S, Reis L, Rhead W, Rita D, Renkens I, Roelens F, Ruliera J, Rump P, Schilit SL, Shaheen R, Sparkes R, Spiegel E, Stevens B, Stone MR, Tagoe J, Thakuria JV, van Bon BW, van de Kamp J, van Der Burgt I, van Essen T, van Ravenswaaij-Arts CM, van Roosmalen MJ, Vergult S, Volker-Touw CM, Warburton DP, Waterman MJ, Wiley S, Wilson A, Yerena-de Vega MC, Zori RT, Levy B, Brunner HG, de Leeuw N, Kloosterman WP, Thorland EC, Morton CC, Gusella JF, Talkowski ME. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. Nat Genet. 2017 01; 49(1):36-45. PMID: 27841880; PMCID: PMC5307971.
    Citations: 95     Fields:    Translation:Humans
  81. Maussion G, Cruceanu C, Rosenfeld JA, Bell SC, Jollant F, Szatkiewicz J, Collins RL, Hanscom C, Kolobova I, de Champfleur NM, Blumenthal I, Chiang C, Ota V, Hultman C, O'Dushlaine C, McCarroll S, Alda M, Jacquemont S, Ordulu Z, Marshall CR, Carter MT, Shaffer LG, Sklar P, Girirajan S, Morton CC, Gusella JF, Turecki G, Stavropoulos DJ, Sullivan PF, Scherer SW, Talkowski ME, Ernst C. Implication of LRRC4C and DPP6 in neurodevelopmental disorders. Am J Med Genet A. 2017 Feb; 173(2):395-406. PMID: 27759917; PMCID: PMC5833302.
    Citations: 19     Fields:    Translation:Humans
  82. Ordulu Z, Kammin T, Brand H, Pillalamarri V, Redin CE, Collins RL, Blumenthal I, Hanscom C, Pereira S, Bradley I, Crandall BF, Gerrol P, Hayden MA, Hussain N, Kanengisser-Pines B, Kantarci S, Levy B, Macera MJ, Quintero-Rivera F, Spiegel E, Stevens B, Ulm JE, Warburton D, Wilkins-Haug LE, Yachelevich N, Gusella JF, Talkowski ME, Morton CC. Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis. Am J Hum Genet. 2016 Nov 03; 99(5):1015-1033. PMID: 27745839; PMCID: PMC5097935.
    Citations: 20     Fields:    Translation:Humans
  83. Schilit SL, Currall BB, Yao R, Hanscom C, Collins RL, Pillalamarri V, Lee DY, Kammin T, Zepeda-Mendoza CJ, Mononen T, Nolan LS, Gusella JF, Talkowski ME, Shen J, Morton CC. Estrogen-related receptor gamma implicated in a phenotype including hearing loss and mild developmental delay. Eur J Hum Genet. 2016 11; 24(11):1622-1626. PMID: 27381092; PMCID: PMC5110062.
    Citations: 9     Fields:    Translation:HumansCells
  84. Macakova M, Bohuslavova B, Vochozkova P, Pavlok A, Sedlackova M, Vidinska D, Vochyanova K, Liskova I, Valekova I, Baxa M, Ellederova Z, Klima J, Juhas S, Juhasova J, Klouckova J, Haluzik M, Klempir J, Hansikova H, Spacilova J, Collins R, Blumenthal I, Talkowski M, Gusella JF, Howland DS, DiFiglia M, Motlik J. Mutated Huntingtin Causes Testicular Pathology in Transgenic Minipig Boars. Neurodegener Dis. 2016; 16(3-4):245-59. PMID: 26959244.
    Citations: 10     Fields:    Translation:HumansAnimalsCells
  85. Tai DJ, Ragavendran A, Manavalan P, Stortchevoi A, Seabra CM, Erdin S, Collins RL, Blumenthal I, Chen X, Shen Y, Sahin M, Zhang C, Lee C, Gusella JF, Talkowski ME. Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR. Nat Neurosci. 2016 Mar; 19(3):517-22. PMID: 26829649; PMCID: PMC4903018.
    Citations: 22     Fields:    Translation:HumansCells
  86. Smoller JW, Karlson EW, Green RC, Kathiresan S, MacArthur DG, Talkowski ME, Murphy SN, Weiss ST. An eMERGE Clinical Center at Partners Personalized Medicine. J Pers Med. 2016 Jan 20; 6(1). PMID: 26805891; PMCID: PMC4810384.
    Citations: 16     
  87. Mukherjee K, Ishii K, Pillalamarri V, Kammin T, Atkin JF, Hickey SE, Xi QJ, Zepeda CJ, Gusella JF, Talkowski ME, Morton CC, Maas RL, Liao EC. Actin capping protein CAPZB regulates cell morphology, differentiation, and neural crest migration in craniofacial morphogenesis†. Hum Mol Genet. 2016 Apr 01; 25(7):1255-70. PMID: 26758871; PMCID: PMC4787901.
    Citations: 18     Fields:    Translation:HumansAnimals
  88. Sanders SJ, He X, Willsey AJ, Ercan-Sencicek AG, Samocha KE, Cicek AE, Murtha MT, Bal VH, Bishop SL, Dong S, Goldberg AP, Jinlu C, Keaney JF, Klei L, Mandell JD, Moreno-De-Luca D, Poultney CS, Robinson EB, Smith L, Solli-Nowlan T, Su MY, Teran NA, Walker MF, Werling DM, Beaudet AL, Cantor RM, Fombonne E, Geschwind DH, Grice DE, Lord C, Lowe JK, Mane SM, Martin DM, Morrow EM, Talkowski ME, Sutcliffe JS, Walsh CA, Yu TW, Ledbetter DH, Martin CL, Cook EH, Buxbaum JD, Daly MJ, Devlin B, Roeder K, State MW. Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci. Neuron. 2015 Sep 23; 87(6):1215-1233. PMID: 26402605.
    Citations: 537     Fields:    Translation:Humans
  89. Durst R, Sauls K, Peal DS, deVlaming A, Toomer K, Leyne M, Salani M, Talkowski ME, Brand H, Perrocheau M, Simpson C, Jett C, Stone MR, Charles F, Chiang C, Lynch SN, Bouatia-Naji N, Delling FN, Freed LA, Tribouilloy C, Le Tourneau T, LeMarec H, Fernandez-Friera L, Solis J, Trujillano D, Ossowski S, Estivill X, Dina C, Bruneval P, Chester A, Schott JJ, Irvine KD, Mao Y, Wessels A, Motiwala T, Puceat M, Tsukasaki Y, Menick DR, Kasiganesan H, Nie X, Broome AM, Williams K, Johnson A, Markwald RR, Jeunemaitre X, Hagege A, Levine RA, Milan DJ, Norris RA, Slaugenhaupt SA. Mutations in DCHS1 cause mitral valve prolapse. Nature. 2015 Sep 03; 525(7567):109-13. PMID: 26258302; PMCID: PMC4720389.
    Citations: 70     Fields:    Translation:HumansAnimalsCells
  90. Brand H, Collins RL, Hanscom C, Rosenfeld JA, Pillalamarri V, Stone MR, Kelley F, Mason T, Margolin L, Eggert S, Mitchell E, Hodge JC, Gusella JF, Sanders SJ, Talkowski ME. Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation. Am J Hum Genet. 2015 Jul 02; 97(1):170-6. PMID: 26094575; PMCID: PMC4571023.
    Citations: 26     Fields:    Translation:HumansCells
  91. Migliavacca E, Golzio C, Männik K, Blumenthal I, Oh EC, Harewood L, Kosmicki JA, Loviglio MN, Giannuzzi G, Hippolyte L, Maillard AM, Alfaiz AA, van Haelst MM, Andrieux J, Gusella JF, Daly MJ, Beckmann JS, Jacquemont S, Talkowski ME, Katsanis N, Reymond A. A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology. Am J Hum Genet. 2015 May 07; 96(5):784-96. PMID: 25937446; PMCID: PMC4570289.
    Citations: 22     Fields:    Translation:HumansAnimalsCells
  92. Turner TN, Sharma K, Oh EC, Liu YP, Collins RL, Sosa MX, Auer DR, Brand H, Sanders SJ, Moreno-De-Luca D, Pihur V, Plona T, Pike K, Soppet DR, Smith MW, Cheung SW, Martin CL, State MW, Talkowski ME, Cook E, Huganir R, Katsanis N, Chakravarti A. Loss of d-catenin function in severe autism. Nature. 2015 Apr 02; 520(7545):51-6. PMID: 25807484.
    Citations: 70     Fields:    Translation:HumansAnimalsCells
  93. Macera MJ, Sobrino A, Levy B, Jobanputra V, Aggarwal V, Mills A, Esteves C, Hanscom C, Pereira S, Pillalamarri V, Ordulu Z, Morton CC, Talkowski M, Warburton D. Prenatal diagnosis of chromothripsis, with nine breaks characterized by karyotyping, FISH, microarray and whole-genome sequencing. Prenat Diagn. 2015 Mar; 35(3):299-301. PMID: 25043231.
    Citations: 17     Fields:    Translation:Humans
  94. Biagioli M, Ferrari F, Mendenhall EM, Zhang Y, Erdin S, Vijayvargia R, Vallabh SM, Solomos N, Manavalan P, Ragavendran A, Ozsolak F, Lee JM, Talkowski ME, Gusella JF, Macdonald ME, Park PJ, Seong IS. Htt CAG repeat expansion confers pleiotropic gains of mutant huntingtin function in chromatin regulation. Hum Mol Genet. 2015 May 01; 24(9):2442-57. PMID: 25574027; PMCID: PMC4383859.
    Citations: 27     Fields:    Translation:AnimalsCells
  95. van Heesch S, Simonis M, van Roosmalen MJ, Pillalamarri V, Brand H, Kuijk EW, de Luca KL, Lansu N, Braat AK, Menelaou A, Hao W, Korving J, Snijder S, van der Veken LT, Hochstenbach R, Knegt AC, Duran K, Renkens I, Alekozai N, Jager M, Vergult S, Menten B, de Bruijn E, Boymans S, Ippel E, van Binsbergen E, Talkowski ME, Lichtenbelt K, Cuppen E, Kloosterman WP. Genomic and functional overlap between somatic and germline chromosomal rearrangements. Cell Rep. 2014 Dec 24; 9(6):2001-10. PMID: 25497101.
    Citations: 17     Fields:    Translation:HumansAnimalsCells
  96. Mandal PK, Ferreira LM, Collins R, Meissner TB, Boutwell CL, Friesen M, Vrbanac V, Garrison BS, Stortchevoi A, Bryder D, Musunuru K, Brand H, Tager AM, Allen TM, Talkowski ME, Rossi DJ, Cowan CA. Efficient ablation of genes in human hematopoietic stem and effector cells using CRISPR/Cas9. Cell Stem Cell. 2014 Nov 06; 15(5):643-52. PMID: 25517468.
    Citations: 207     Fields:    Translation:HumansAnimalsCells
  97. Sugathan A, Biagioli M, Golzio C, Erdin S, Blumenthal I, Manavalan P, Ragavendran A, Brand H, Lucente D, Miles J, Sheridan SD, Stortchevoi A, Kellis M, Haggarty SJ, Katsanis N, Gusella JF, Talkowski ME. CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors. Proc Natl Acad Sci U S A. 2014 Oct 21; 111(42):E4468-77. PMID: 25294932.
    Citations: 148     Fields:    Translation:HumansAnimalsCells
  98. Brand H, Pillalamarri V, Collins RL, Eggert S, O'Dushlaine C, Braaten EB, Stone MR, Chambert K, Doty ND, Hanscom C, Rosenfeld JA, Ditmars H, Blais J, Mills R, Lee C, Gusella JF, McCarroll S, Smoller JW, Talkowski ME, Doyle AE. Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders. Am J Hum Genet. 2014 Oct 02; 95(4):454-61. PMID: 25279985.
    Citations: 26     Fields:    Translation:HumansCells
  99. Veres A, Gosis BS, Ding Q, Collins R, Ragavendran A, Brand H, Erdin S, Cowan CA, Talkowski ME, Musunuru K. Low incidence of off-target mutations in individual CRISPR-Cas9 and TALEN targeted human stem cell clones detected by whole-genome sequencing. Cell Stem Cell. 2014 Jul 03; 15(1):27-30. PMID: 24996167.
    Citations: 256     Fields:    Translation:HumansCells
  100. Blumenthal I, Ragavendran A, Erdin S, Klei L, Sugathan A, Guide JR, Manavalan P, Zhou JQ, Wheeler VC, Levin JZ, Ernst C, Roeder K, Devlin B, Gusella JF, Talkowski ME. Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families. Am J Hum Genet. 2014 Jun 05; 94(6):870-83. PMID: 24906019.
    Citations: 59     Fields:    Translation:HumansAnimalsCells
  101. Ordulu Z, Wong KE, Currall BB, Ivanov AR, Pereira S, Althari S, Gusella JF, Talkowski ME, Morton CC. Describing sequencing results of structural chromosome rearrangements with a suggested next-generation cytogenetic nomenclature. Am J Hum Genet. 2014 May 01; 94(5):695-709. PMID: 24746958.
    Citations: 26     Fields:    Translation:HumansCells
  102. Talkowski ME, Minikel EV, Gusella JF. Autism spectrum disorder genetics: diverse genes with diverse clinical outcomes. Harv Rev Psychiatry. 2014 Mar-Apr; 22(2):65-75. PMID: 24614762; PMCID: PMC9369102.
    Citations: 28     Fields:    Translation:Humans
  103. Hanscom C, Talkowski M. Design of large-insert jumping libraries for structural variant detection using Illumina sequencing. Curr Protoc Hum Genet. 2014 Jan 23; 80:7.22.1-7.22.9. PMID: 24789519; PMCID: PMC4009510.
    Citations: 17     Fields:    Translation:Humans
  104. Lionel AC, Tammimies K, Vaags AK, Rosenfeld JA, Ahn JW, Merico D, Noor A, Runke CK, Pillalamarri VK, Carter MT, Gazzellone MJ, Thiruvahindrapuram B, Fagerberg C, Laulund LW, Pellecchia G, Lamoureux S, Deshpande C, Clayton-Smith J, White AC, Leather S, Trounce J, Melanie Bedford H, Hatchwell E, Eis PS, Yuen RK, Walker S, Uddin M, Geraghty MT, Nikkel SM, Tomiak EM, Fernandez BA, Soreni N, Crosbie J, Arnold PD, Schachar RJ, Roberts W, Paterson AD, So J, Szatmari P, Chrysler C, Woodbury-Smith M, Brian Lowry R, Zwaigenbaum L, Mandyam D, Wei J, Macdonald JR, Howe JL, Nalpathamkalam T, Wang Z, Tolson D, Cobb DS, Wilks TM, Sorensen MJ, Bader PI, An Y, Wu BL, Musumeci SA, Romano C, Postorivo D, Nardone AM, Monica MD, Scarano G, Zoccante L, Novara F, Zuffardi O, Ciccone R, Antona V, Carella M, Zelante L, Cavalli P, Poggiani C, Cavallari U, Argiropoulos B, Chernos J, Brasch-Andersen C, Speevak M, Fichera M, Ogilvie CM, Shen Y, Hodge JC, Talkowski ME, Stavropoulos DJ, Marshall CR, Scherer SW. Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes. Hum Mol Genet. 2014 May 15; 23(10):2752-68. PMID: 24381304.
    Citations: 67     Fields:    Translation:HumansCells
  105. Currall BB, Chiang C, Talkowski ME, Morton CC. Mechanisms for Structural Variation in the Human Genome. Curr Genet Med Rep. 2013 Jun 01; 1(2):81-90. PMID: 23730541.
    Citations: 17     
  106. Mullegama SV, Rosenfeld JA, Orellana C, van Bon BW, Halbach S, Repnikova EA, Brick L, Li C, Dupuis L, Rosello M, Aradhya S, Stavropoulos DJ, Manickam K, Mitchell E, Hodge JC, Talkowski ME, Gusella JF, Keller K, Zonana J, Schwartz S, Pyatt RE, Waggoner DJ, Shaffer LG, Lin AE, de Vries BB, Mendoza-Londono R, Elsea SH. Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder. Eur J Hum Genet. 2014 Jan; 22(1):57-63. PMID: 23632792.
    Citations: 22     Fields:    Translation:HumansCells
  107. Hodge JC, Mitchell E, Pillalamarri V, Toler TL, Bartel F, Kearney HM, Zou YS, Tan WH, Hanscom C, Kirmani S, Hanson RR, Skinner SA, Rogers RC, Everman DB, Boyd E, Tapp C, Mullegama SV, Keelean-Fuller D, Powell CM, Elsea SH, Morton CC, Gusella JF, DuPont B, Chaubey A, Lin AE, Talkowski ME. Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities. Mol Psychiatry. 2014 Mar; 19(3):368-79. PMID: 23587880.
    Citations: 36     Fields:    Translation:Humans
  108. Bahl S, Chiang C, Beauchamp RL, Neale BM, Daly MJ, Gusella JF, Talkowski ME, Ramesh V. Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder. Mol Autism. 2013 Mar 20; 4(1):5. PMID: 23514105.
    Citations: 7     Fields:    
  109. Chen X, Shen Y, Zhang F, Chiang C, Pillalamarri V, Blumenthal I, Talkowski M, Wu BL, Gusella JF. Molecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short inverted repeats in deletion CNVs. Am J Hum Genet. 2013 Mar 07; 92(3):375-86. PMID: 23472757.
    Citations: 23     Fields:    Translation:HumansCells
  110. Lindgren AM, Hoyos T, Talkowski ME, Hanscom C, Blumenthal I, Chiang C, Ernst C, Pereira S, Ordulu Z, Clericuzio C, Drautz JM, Rosenfeld JA, Shaffer LG, Velsher L, Pynn T, Vermeesch J, Harris DJ, Gusella JF, Liao EC, Morton CC. Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate. Hum Genet. 2013 May; 132(5):537-52. PMID: 23354975.
    Citations: 28     Fields:    Translation:HumansAnimalsCells
  111. Beunders G, Voorhoeve E, Golzio C, Pardo LM, Rosenfeld JA, Talkowski ME, Simonic I, Lionel AC, Vergult S, Pyatt RE, van de Kamp J, Nieuwint A, Weiss MM, Rizzu P, Verwer LE, van Spaendonk RM, Shen Y, Wu BL, Yu T, Yu Y, Chiang C, Gusella JF, Lindgren AM, Morton CC, van Binsbergen E, Bulk S, van Rossem E, Vanakker O, Armstrong R, Park SM, Greenhalgh L, Maye U, Neill NJ, Abbott KM, Sell S, Ladda R, Farber DM, Bader PI, Cushing T, Drautz JM, Konczal L, Nash P, de Los Reyes E, Carter MT, Hopkins E, Marshall CR, Osborne LR, Gripp KW, Thrush DL, Hashimoto S, Gastier-Foster JM, Astbury C, Ylstra B, Meijers-Heijboer H, Posthuma D, Menten B, Mortier G, Scherer SW, Eichler EE, Girirajan S, Katsanis N, Groffen AJ, Sistermans EA. Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus. Am J Hum Genet. 2013 Feb 07; 92(2):210-20. PMID: 23332918; PMCID: PMC3567268.
    Citations: 78     Fields:    Translation:HumansAnimalsCells
  112. Ruderfer DM, Chambert K, Moran J, Talkowski M, Chen ES, Gigek C, Gusella JF, Blackwood DH, Corvin A, Gurling HM, Hultman CM, Kirov G, Magnusson P, O'Donovan MC, Owen MJ, Pato C, St Clair D, Sullivan PF, Purcell SM, Sklar P, Ernst C. Mosaic copy number variation in schizophrenia. Eur J Hum Genet. 2013 Sep; 21(9):1007-11. PMID: 23321615.
    Citations: 8     Fields:    Translation:HumansCells
  113. Talkowski ME, Maussion G, Crapper L, Rosenfeld JA, Blumenthal I, Hanscom C, Chiang C, Lindgren A, Pereira S, Ruderfer D, Diallo AB, Lopez JP, Turecki G, Chen ES, Gigek C, Harris DJ, Lip V, An Y, Biagioli M, Macdonald ME, Lin M, Haggarty SJ, Sklar P, Purcell S, Kellis M, Schwartz S, Shaffer LG, Natowicz MR, Shen Y, Morton CC, Gusella JF, Ernst C. Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities. Am J Hum Genet. 2012 Dec 07; 91(6):1128-34. PMID: 23217328.
    Citations: 39     Fields:    Translation:HumansCells
  114. Talkowski ME, Ordulu Z, Pillalamarri V, Benson CB, Blumenthal I, Connolly S, Hanscom C, Hussain N, Pereira S, Picker J, Rosenfeld JA, Shaffer LG, Wilkins-Haug LE, Gusella JF, Morton CC. Clinical diagnosis by whole-genome sequencing of a prenatal sample. N Engl J Med. 2012 Dec 06; 367(23):2226-32. PMID: 23215558; PMCID: PMC3579222.
    Citations: 71     Fields:    Translation:Humans
  115. Ernst C, Marshall CR, Shen Y, Metcalfe K, Rosenfeld J, Hodge JC, Torres A, Blumenthal I, Chiang C, Pillalamarri V, Crapper L, Diallo AB, Ruderfer D, Pereira S, Sklar P, Purcell S, Wildin RS, Spencer AC, Quade BF, Harris DJ, Lemyre E, Wu BL, Stavropoulos DJ, Geraghty MT, Shaffer LG, Morton CC, Scherer SW, Gusella JF, Talkowski ME. Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesity. Arch Gen Psychiatry. 2012 Dec; 69(12):1238-46. PMID: 23044507.
    Citations: 7     Fields:    
  116. Kim HG, Kim HT, Leach NT, Lan F, Ullmann R, Silahtaroglu A, Kurth I, Nowka A, Seong IS, Shen Y, Talkowski ME, Ruderfer D, Lee JH, Glotzbach C, Ha K, Kjaergaard S, Levin AV, Romeike BF, Kleefstra T, Bartsch O, Elsea SH, Jabs EW, MacDonald ME, Harris DJ, Quade BJ, Ropers HH, Shaffer LG, Kutsche K, Layman LC, Tommerup N, Kalscheuer VM, Shi Y, Morton CC, Kim CH, Gusella JF. Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. Am J Hum Genet. 2012 Jul 13; 91(1):56-72. PMID: 22770980.
    Citations: 37     Fields:    Translation:HumansAnimalsCells
  117. Golzio C, Willer J, Talkowski ME, Oh EC, Taniguchi Y, Jacquemont S, Reymond A, Sun M, Sawa A, Gusella JF, Kamiya A, Beckmann JS, Katsanis N. KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant. Nature. 2012 May 16; 485(7398):363-7. PMID: 22596160.
    Citations: 175     Fields:    Translation:HumansAnimalsCells
  118. Talkowski ME, Rosenfeld JA, Blumenthal I, Pillalamarri V, Chiang C, Heilbut A, Ernst C, Hanscom C, Rossin E, Lindgren AM, Pereira S, Ruderfer D, Kirby A, Ripke S, Harris DJ, Lee JH, Ha K, Kim HG, Solomon BD, Gropman AL, Lucente D, Sims K, Ohsumi TK, Borowsky ML, Loranger S, Quade B, Lage K, Miles J, Wu BL, Shen Y, Neale B, Shaffer LG, Daly MJ, Morton CC, Gusella JF. Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. Cell. 2012 Apr 27; 149(3):525-37. PMID: 22521361.
    Citations: 273     Fields:    Translation:HumansCells
  119. Lamb AN, Rosenfeld JA, Neill NJ, Talkowski ME, Blumenthal I, Girirajan S, Keelean-Fuller D, Fan Z, Pouncey J, Stevens C, Mackay-Loder L, Terespolsky D, Bader PI, Rosenbaum K, Vallee SE, Moeschler JB, Ladda R, Sell S, Martin J, Ryan S, Jones MC, Moran R, Shealy A, Madan-Khetarpal S, McConnell J, Surti U, Delahaye A, Heron-Longe B, Pipiras E, Benzacken B, Passemard S, Verloes A, Isidor B, Le Caignec C, Glew GM, Opheim KE, Descartes M, Eichler EE, Morton CC, Gusella JF, Schultz RA, Ballif BC, Shaffer LG. Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features. Hum Mutat. 2012 Apr; 33(4):728-40. PMID: 22290657.
    Citations: 41     Fields:    Translation:HumansCells
  120. Yokley JL, Prasad KM, Chowdari KV, Talkowski ME, Wood J, Gur RC, Gur RE, Almasy L, Nimgaonkar VL, Pogue-Geile MF. Genetic associations between neuregulin-1 SNPs and neurocognitive function in multigenerational, multiplex schizophrenia families. Psychiatr Genet. 2012 Apr; 22(2):70-81. PMID: 22183611.
    Citations: 9     Fields:    Translation:Humans
  121. Chiang C, Jacobsen JC, Ernst C, Hanscom C, Heilbut A, Blumenthal I, Mills RE, Kirby A, Lindgren AM, Rudiger SR, McLaughlan CJ, Bawden CS, Reid SJ, Faull RL, Snell RG, Hall IM, Shen Y, Ohsumi TK, Borowsky ML, Daly MJ, Lee C, Morton CC, MacDonald ME, Gusella JF, Talkowski ME. Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration. Nat Genet. 2012 Mar 04; 44(4):390-7, S1. PMID: 22388000.
    Citations: 123     Fields:    Translation:HumansAnimalsCells
  122. Talkowski ME, Mullegama SV, Rosenfeld JA, van Bon BW, Shen Y, Repnikova EA, Gastier-Foster J, Thrush DL, Kathiresan S, Ruderfer DM, Chiang C, Hanscom C, Ernst C, Lindgren AM, Morton CC, An Y, Astbury C, Brueton LA, Lichtenbelt KD, Ades LC, Fichera M, Romano C, Innis JW, Williams CA, Bartholomew D, Van Allen MI, Parikh A, Zhang L, Wu BL, Pyatt RE, Schwartz S, Shaffer LG, de Vries BB, Gusella JF, Elsea SH. Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder. Am J Hum Genet. 2011 Oct 07; 89(4):551-63. PMID: 21981781.
    Citations: 97     Fields:    Translation:HumansCells
  123. Lachke SA, Higgins AW, Inagaki M, Saadi I, Xi Q, Long M, Quade BJ, Talkowski ME, Gusella JF, Fujimoto A, Robinson ML, Yang Y, Duong QT, Shapira I, Motro B, Miyoshi J, Takai Y, Morton CC, Maas RL. The cell adhesion gene PVRL3 is associated with congenital ocular defects. Hum Genet. 2012 Feb; 131(2):235-50. PMID: 21769484; PMCID: PMC3279124.
    Citations: 30     Fields:    Translation:HumansAnimalsCells
  124. Talkowski ME, Ernst C, Heilbut A, Chiang C, Hanscom C, Lindgren A, Kirby A, Liu S, Muddukrishna B, Ohsumi TK, Shen Y, Borowsky M, Daly MJ, Morton CC, Gusella JF. Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research. Am J Hum Genet. 2011 Apr 08; 88(4):469-81. PMID: 21473983.
    Citations: 82     Fields:    Translation:HumansCells
  125. Talkowski ME, McCann KL, Chen M, McClain L, Bamne M, Wood J, Chowdari KV, Watson A, Prasad KM, Kirov G, Georgieva L, Toncheva D, Mansour H, Lewis DA, Owen M, O'Donovan M, Papasaikas P, Sullivan P, Ruderfer D, Yao JK, Leonard S, Thomas P, Miyajima F, Quinn J, Lopez AJ, Nimgaonkar VL. Fine-mapping reveals novel alternative splicing of the dopamine transporter. Am J Med Genet B Neuropsychiatr Genet. 2010 Dec 05; 153B(8):1434-47. PMID: 20957647.
    Citations: 5     Fields:    Translation:HumansCells
  126. Mansour HA, Talkowski ME, Wood J, Chowdari KV, McClain L, Prasad K, Montrose D, Fagiolini A, Friedman ES, Allen MH, Bowden CL, Calabrese J, El-Mallakh RS, Escamilla M, Faraone SV, Fossey MD, Gyulai L, Loftis JM, Hauser P, Ketter TA, Marangell LB, Miklowitz DJ, Nierenberg AA, Patel J, Sachs GS, Sklar P, Smoller JW, Laird N, Keshavan M, Thase ME, Axelson D, Birmaher B, Lewis D, Monk T, Frank E, Kupfer DJ, Devlin B, Nimgaonkar VL. Association study of 21 circadian genes with bipolar I disorder, schizoaffective disorder, and schizophrenia. Bipolar Disord. 2009 Nov; 11(7):701-10. PMID: 19839995.
    Citations: 57     Fields:    Translation:Humans
  127. Mansour H, Klei L, Wood J, Talkowski M, Chowdari K, Fathi W, Eissa A, Yassin A, Salah H, Tobar S, El-Boraie H, Gaafar H, Elassy M, Ibrahim NE, El-Bahaei W, Elsayed M, Shahda M, El Sheshtawy E, El-Boraie O, El-Chennawi F, Devlin B, Nimgaonkar VL. Consanguinity associated with increased risk for bipolar I disorder in Egypt. Am J Med Genet B Neuropsychiatr Genet. 2009 Sep 05; 150B(6):879-85. PMID: 19152378.
    Citations: 9     Fields:    Translation:HumansCells
  128. Prasad KM, Talkowski ME, Chowdari KV, McClain L, Yolken RH, Nimgaonkar VL. Candidate genes and their interactions with other genetic/environmental risk factors in the etiology of schizophrenia. Brain Res Bull. 2010 Sep 30; 83(3-4):86-92. PMID: 19729054.
    Citations: 6     Fields:    Translation:HumansAnimals
  129. Talkowski ME, McClain L, Allen T, Bradford LD, Calkins M, Edwards N, Georgieva L, Go R, Gur R, Gur R, Kirov G, Chowdari K, Kwentus J, Lyons P, Mansour H, McEvoy J, O'Donovan MC, O'Jile J, Owen MJ, Santos A, Savage R, Toncheva D, Vockley G, Wood J, Devlin B, Nimgaonkar VL. Convergent patterns of association between phenylalanine hydroxylase variants and schizophrenia in four independent samples. Am J Med Genet B Neuropsychiatr Genet. 2009 Jun 05; 150B(4):560-9. PMID: 18937293; PMCID: PMC2738981.
    Citations: 5     Fields:    Translation:Humans
  130. Prasad KM, Almasy L, Gur RC, Gur RE, Pogue-Geile M, Chowdari KV, Talkowski ME, Nimgaonkar VL. RGS4 polymorphisms associated with variability of cognitive performance in a family-based schizophrenia sample. Schizophr Bull. 2010 Sep; 36(5):983-90. PMID: 19282471.
    Citations: 7     Fields:    Translation:HumansCells
  131. Bamne MN, Talkowski ME, Chowdari KV, Nimgaonkar VL. Functional analysis of upstream common polymorphisms of the dopamine transporter gene. Schizophr Bull. 2010 Sep; 36(5):977-82. PMID: 19273584.
    Citations: 7     Fields:    Translation:HumansCells
  132. Talkowski ME, Kirov G, Bamne M, Georgieva L, Torres G, Mansour H, Chowdari KV, Milanova V, Wood J, McClain L, Prasad K, Shirts B, Zhang J, O'Donovan MC, Owen MJ, Devlin B, Nimgaonkar VL. A network of dopaminergic gene variations implicated as risk factors for schizophrenia. Hum Mol Genet. 2008 Mar 01; 17(5):747-58. PMID: 18045777.
    Citations: 63     Fields:    Translation:Humans
  133. Bamne MN, Talkowski ME, Moraes CT, Manuck SB, Ferrell RE, Chowdari KV, Nimgaonkar VL. Systematic association studies of mitochondrial DNA variations in schizophrenia: focus on the ND5 gene. Schizophr Bull. 2008 May; 34(3):458-65. PMID: 17898419.
    Citations: 6     Fields:    Translation:Humans
  134. Talkowski ME, Bamne M, Mansour H, Nimgaonkar VL. Dopamine genes and schizophrenia: case closed or evidence pending? Schizophr Bull. 2007 Sep; 33(5):1071-81. PMID: 17630406; PMCID: PMC2559466.
    Citations: 15     Fields:    Translation:Humans
  135. Chowdari KV, Bamne M, Wood J, Talkowski ME, Mirnics K, Levitt P, Lewis DA, Nimgaonkar VL. Linkage disequilibrium patterns and functional analysis of RGS4 polymorphisms in relation to schizophrenia. Schizophr Bull. 2008 Jan; 34(1):118-26. PMID: 17515439.
    Citations: 17     Fields:    Translation:Humans
  136. Talkowski ME, Mansour H, Chowdari KV, Wood J, Butler A, Varma PG, Prasad S, Semwal P, Bhatia T, Deshpande S, Devlin B, Thelma BK, Nimgaonkar VL. Novel, replicated associations between dopamine D3 receptor gene polymorphisms and schizophrenia in two independent samples. Biol Psychiatry. 2006 Sep 15; 60(6):570-7. PMID: 16893532.
    Citations: 26     Fields:    Translation:Humans
  137. Talkowski ME, Seltman H, Bassett AS, Brzustowicz LM, Chen X, Chowdari KV, Collier DA, Cordeiro Q, Corvin AP, Deshpande SN, Egan MF, Gill M, Kendler KS, Kirov G, Heston LL, Levitt P, Lewis DA, Li T, Mirnics K, Morris DW, Norton N, O'Donovan MC, Owen MJ, Richard C, Semwal P, Sobell JL, St Clair D, Straub RE, Thelma BK, Vallada H, Weinberger DR, Williams NM, Wood J, Zhang F, Devlin B, Nimgaonkar VL. Evaluation of a susceptibility gene for schizophrenia: genotype based meta-analysis of RGS4 polymorphisms from thirteen independent samples. Biol Psychiatry. 2006 Jul 15; 60(2):152-62. PMID: 16631129; PMCID: PMC3133764.
    Citations: 26     Fields:    Translation:Humans
  138. Shirts BH, Bamne M, Kim JJ, Talkowski M, Wood J, Yolken R, Nimgaonkar VL. A comprehensive genetic association and functional study of TNF in schizophrenia risk. Schizophr Res. 2006 Mar; 83(1):7-13. PMID: 16503400.
    Citations: 3     Fields:    Translation:HumansCells
  139. Talkowski ME, Chowdari K, Lewis DA, Nimgaonkar VL. Can RGS4 polymorphisms be viewed as credible risk factors for schizophrenia? A critical review of the evidence. Schizophr Bull. 2006 Apr; 32(2):203-8. PMID: 16469939.
    Citations: 6     Fields:    Translation:Humans
  140. Talkowski ME, Redfern MS, Jennings JR, Furman JM. Cognitive requirements for vestibular and ocular motor processing in healthy adults and patients with unilateral vestibular lesions. J Cogn Neurosci. 2005 Sep; 17(9):1432-41. PMID: 16197696.
    Citations: 14     Fields:    Translation:Humans
  141. Prasad KM, Chowdari KV, Nimgaonkar VL, Talkowski ME, Lewis DA, Keshavan MS. Genetic polymorphisms of the RGS4 and dorsolateral prefrontal cortex morphometry among first episode schizophrenia patients. Mol Psychiatry. 2005 Feb; 10(2):213-9. PMID: 15381923.
    Citations: 32     Fields:    Translation:HumansCTClinical Trials
  142. Cordeiro Q, Talkowski ME, Chowdari KV, Wood J, Nimgaonkar V, Vallada H. Association and linkage analysis of RGS4 polymorphisms with schizophrenia and bipolar disorder in Brazil. Genes Brain Behav. 2005 Feb; 4(1):45-50. PMID: 15660667.
    Citations: 14     Fields:    Translation:HumansCTClinical Trials
  143. Mansour HA, Talkowski ME, Wood J, Pless L, Bamne M, Chowdari KV, Allen M, Bowden CL, Calabrese J, El-Mallakh RS, Fagiolini A, Faraone SV, Fossey MD, Friedman ES, Gyulai L, Hauser P, Ketter TA, Loftis JM, Marangell LB, Miklowitz DJ, Nierenberg AA, Patel J, Sachs GS, Sklar P, Smoller JW, Thase ME, Frank E, Kupfer DJ, Nimgaonkar VL. Serotonin gene polymorphisms and bipolar I disorder: focus on the serotonin transporter. Ann Med. 2005; 37(8):590-602. PMID: 16338761.
    Citations: 13     Fields:    Translation:Humans
  144. Cordeiro Q, Talkowski M, Wood J, Ikenaga E, Vallada H. Lack of association between VNTR polymorphism of dopamine transporter gene (SLC6A3) and schizophrenia in a Brazilian sample. Arq Neuropsiquiatr. 2004 Dec; 62(4):973-6. PMID: 15608954.
    Citations: 1     Fields:    Translation:HumansCells
  145. Redfern MS, Talkowski ME, Jennings JR, Furman JM. Cognitive influences in postural control of patients with unilateral vestibular loss. Gait Posture. 2004 Apr; 19(2):105-14. PMID: 15013498.
    Citations: 36     Fields:    Translation:Humans
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.