My Bibliography

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Paul MS, Duncan AR, Genetti CA, Pan H, Jackson A, Grant PE, Shi J, Pinelli M, Brunetti-Pierri N, Garza-Flores A, Shahani D, Saneto RP, Zampino G, Leoni C, Agolini E, Novelli A, Blümlein U, Haack TB, Heinritz W, Matzker E, Alhaddad B, Abou Jamra R, Bartolomaeus T, AlHamdan S, Carapito R, Isidor B, Bahram S, Ritter A, Izumi K, Shakked BP, Barel O, Ben Zeev B, Begtrup A, Carere DA, Mullegama SV, Palculict TB, Calame DG, Schwan K, Aycinena ARP, Traberg R, Douzgou S, Pirt H, Ismayilova N, Banka S, Chao HT, Agrawal PB. Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy. Am J Hum Genet. 2023 Jan 5;110(1):120-145. doi: 10.1016/j.ajhg.2022.11.011. Epub 2022 Dec 16. PubMed PMID: 36528028; PubMed Central PMCID: PMC9892767.

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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, Patel M, Smith L, Spencer S, Walsh CA, Yang E, Yuskaitis CJ, Yu T, Poduri A. The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2. Genet Med. 2022 Nov;24(11):2240-2248. doi: 10.1016/j.gim.2022.07.020. Epub 2022 Aug 23. PubMed PMID: 35997716; PubMed Central PMCID: PMC9883838.

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Wojcik MH, Zhang T, Ceyhan-Birsoy O, Genetti CA, Lebo MS, Yu TW, Parad RB, Holm IA, Rehm HL, Beggs AH, Green RC, Agrawal PB. Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project. Genet Med. 2021 Jul;23(7):1372-1375. doi: 10.1038/s41436-021-01146-5. Epub 2021 Mar 26. PubMed PMID: 33772220; PubMed Central PMCID: PMC8263473.

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Harris HK, Nakayama T, Lai J, Zhao B, Argyrou N, Gubbels CS, Soucy A, Genetti CA, Suslovitch V, Rodan LH, Tiller GE, Lesca G, Gripp KW, Asadollahi R, Hamosh A, Applegate CD, Turnpenny PD, Simon MEH, Volker-Touw CML, Gassen KLIV, Binsbergen EV, Pfundt R, Gardeitchik T, Vries BBA, Immken LL, Buchanan C, Willing M, Toler TL, Fassi E, Baker L, Vansenne F, Wang X, Ambrus JL Jr, Fannemel M, Posey JE, Agolini E, Novelli A, Rauch A, Boonsawat P, Fagerberg CR, Larsen MJ, Kibaek M, Labalme A, Poisson A, Payne KK, Walsh LE, Aldinger KA, Balciuniene J, Skraban C, Gray C, Murrell J, Bupp CP, Pascolini G, Grammatico P, Broly M, Küry S, Nizon M, Rasool IG, Zahoor MY, Kraus C, Reis A, Iqbal M, Uguen K, Audebert-Bellanger S, Ferec C, Redon S, Baker J, Wu Y, Zampino G, Syrbe S, Brosse I, Jamra RA, Dobyns WB, Cohen LL, Blomhoff A, Mignot C, Keren B, Courtin T, Agrawal PB, Beggs AH, Yu TW. Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior. Genet Med. 2021 Jun;23(6):1028-1040. doi: 10.1038/s41436-021-01114-z. Epub 2021 Mar 3. PubMed PMID: 33658631; PubMed Central PMCID: PMC9472083.

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Schmitz-Abe K, Sanchez-Schmitz G, Doan RN, Hill RS, Chahrour MH, Mehta BK, Servattalab S, Ataman B, Lam AN, Morrow EM, Greenberg ME, Yu TW, Walsh CA, Markianos K. Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder. Sci Rep. 2020 Aug 20;10(1):14045. doi: 10.1038/s41598-020-70656-0. PubMed PMID: 32820185; PubMed Central PMCID: PMC7441318.

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Rockowitz S, LeCompte N, Carmack M, Quitadamo A, Wang L, Park M, Knight D, Sexton E, Smith L, Sheidley B, Field M, Holm IA, Brownstein CA, Agrawal PB, Kornetsky S, Poduri A, Snapper SB, Beggs AH, Yu TW, Williams DA, Sliz P. Children's rare disease cohorts: an integrative research and clinical genomics initiative. NPJ Genom Med. 2020;5:29. doi: 10.1038/s41525-020-0137-0. eCollection 2020. PubMed PMID: 32655885; PubMed Central PMCID: PMC7338382.

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Mackay ZP, Dukhovny D, Phillips KA, Beggs AH, Green RC, Parad RB, Christensen KD. Quantifying Downstream Healthcare Utilization in Studies of Genomic Testing. Value Health. 2020 May;23(5):559-565. doi: 10.1016/j.jval.2020.01.017. Epub 2020 Mar 20. PubMed PMID: 32389220; PubMed Central PMCID: PMC7293136.

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Mackay Z, Dukhovny D, Phillips K, Beggs A, Green R, Parad R, Christensen K, Agrawal P, Ceyhan-Birsoy O, Fayer S, Frankel L, Genetti C, Gutierrez A, Harden M, Holm I, Krier J, Lebo M, Machini K, McGuire A, Naik M, Nguyen T, Pereira S, Ramanathan V, Rehm H, Roberts A, Robinson J, Roumiantsev S, Schwartz T, Truong T, VanNoy G, Waisbren S, Yu T. Quantifying Downstream Healthcare Utilization in Studies of Genomic Testing. Value in Health. 2020 May; 23(5):559-565. doi: 10.1016/j.jval.2020.01.017.

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Gubbels CS, VanNoy GE, Madden JA, Copenheaver D, Yang S, Wojcik MH, Gold NB, Genetti CA, Stoler J, Parad RB, Roumiantsev S, Bodamer O, Beggs AH, Juusola J, Agrawal PB, Yu TW. Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield. Genet Med. 2020 Apr;22(4):736-744. doi: 10.1038/s41436-019-0708-6. Epub 2019 Nov 29. PubMed PMID: 31780822; PubMed Central PMCID: PMC7127968.

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D'Gama AM, Brucker WJ, Zhang T, Gubbels CS, Ferdinandusse S, Shi J, Grant PE, VanNoy G, Genetti CA, Juusola J, Yu TW, Kritzer A, Agrawal PB. A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing. Am J Med Genet A. 2020 Apr;182(4):780-784. doi: 10.1002/ajmg.a.61498. Epub 2020 Feb 5. PubMed PMID: 32022391.

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Fombonne E, Green Snyder L, Daniels A, Feliciano P, Chung W. Psychiatric and Medical Profiles of Autistic Adults in the SPARK Cohort. Journal of Autism and Developmental Disorders. 2020 February; 50(10):3679-3698. doi: 10.1007/s10803-020-04414-6.

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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 Feb 6;180(3):568-584.e23. doi: 10.1016/j.cell.2019.12.036. Epub 2020 Jan 23. PubMed PMID: 31981491; PubMed Central PMCID: PMC7250485.

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D'Gama A, Brucker W, Zhang T, Gubbels C, Ferdinandusse S, Shi J, Grant P, VanNoy G, Genetti C, Juusola J, Yu T, Kritzer A, Agrawal P. A phenotypically severe, biochemically “silent” case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing. American Journal of Medical Genetics Part A. 2020 February; 182(4):780-784. doi: 10.1002/ajmg.a.61498.

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Satterstrom F, Kosmicki J, Wang J, Breen M, De Rubeis S, An J, Peng M, Collins R, Grove J, Klei L, Stevens C, Reichert J, Mulhern M, Artomov M, Gerges S, Sheppard B, Xu X, Bhaduri A, Norman U, Brand H, Schwartz G, Nguyen R, Guerrero E, Dias C, Betancur C, Cook E, Gallagher L, Gill M, Sutcliffe J, Thurm A, Zwick M, Børglum A, State M, Cicek A, Talkowski M, Cutler D, Devlin B, Sanders S, Roeder K, Daly M, Buxbaum J, Aleksic B, Anney R, Barbosa M, Bishop S, Brusco A, Bybjerg-Grauholm J, Carracedo A, Chan M, Chiocchetti A, Chung B, Coon H, Cuccaro M, Curró A, Dalla Bernardina B, Doan R, Domenici E, Dong S, Fallerini C, Fernández-Prieto M, Ferrero G, Freitag C, Fromer M, Gargus J, Geschwind D, Giorgio E, González-Peñas J, Guter S, Halpern D, Hansen-Kiss E, He X, Herman G, Hertz-Picciotto I, Hougaard D, Hultman C, Ionita-Laza I, Jacob S, Jamison J, Jugessur A, Kaartinen M, Knudsen G, Kolevzon A, Kushima I, Lee S, Lehtimäki T, Lim E, Lintas C, Lipkin W, Lopergolo D, Lopes F, Ludena Y, Maciel P, Magnus P, Mahjani B, Maltman N, Manoach D, Meiri G, Menashe I, Miller J, Minshew N, Montenegro E, Moreira D, Morrow E, Mors O, Mortensen P, Mosconi M, Muglia P, Neale B, Nordentoft M, Ozaki N, Palotie A, Parellada M, Passos-Bueno M, Pericak-Vance M, Persico A, Pessah I, Puura K, Reichenberg A, Renieri A, Riberi E, Robinson E, Samocha K, Sandin S, Santangelo S, Schellenberg G, Scherer S, Schlitt S, Schmidt R, Schmitt L, Silva I, Singh T, Siper P, Smith M, Soares G, Stoltenberg C, Suren P, Susser E, Sweeney J, Szatmari P, Tang L, Tassone F, Teufel K, Trabetti E, Trelles M, Walsh C, Weiss L, Werge T, Werling D, Wigdor E, Wilkinson E, Willsey A, Yu T, Yu M, Yuen R, Zachi E, Agerbo E, Als T, Appadurai V, Bækvad-Hansen M, Belliveau R, Buil A, Carey C, Cerrato F, Chambert K, Churchhouse C, Dalsgaard S, Demontis D, Dumont A, Goldstein J, Hansen C, Hauberg M, Hollegaard M, Howrigan D, Huang H, Maller J, Martin A, Martin J, Mattheisen M, Moran J, Pallesen J, Palmer D, Pedersen C, Pedersen M, Poterba T, Poulsen J, Ripke S, Schork A, Thompson W, Turley P, Walters R. Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism. Cell. 2020 February; 180(3):568-584.e23. doi: 10.1016/j.cell.2019.12.036.

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Fombonne E, Goin-Kochel R, O'Roak B, Abbeduto L, Aberbach G, Acampado J, Ace A, Albright C, Alessandri M, Amaral D, Amatya A, Anglo C, Annett R, Arriaga I, Ashley R, Astrovskaya I, Baalman K, Baer M, Bahl E, Balasubramanian A, Baraghoshi G, Bardett N, Barnard R, Bashar A, Beaudet A, Beckwith M, Beeson L, Bentley D, Bernier R, Berry-Kravis E, Boland S, Booker S, Bradley C, Brewster S, Brooks E, Brown M, Brueggeman L, Butler M, Butter E, Callahan K, Camba A, Carbone P, Carpenter L, Carpenter S, Carriero N, Cartner L, Casten L, Chatha A, Chin W, Chintalapalli S, Cho D, Chung W, Clark R, Cohen C, Coleman K, Columbi C, Coppola L, Courchesne E, Cubells J, Hannah Currin M, Daniels A, David G, DeMarco L, Dennis M, Dent K, Dichter G, Ding Y, Dinh H, Doan R, Doddapaneni H, Eichler E, Eldred S, Eng C, Erickson C, Esler A, Fatemi A, Feliciano P, Fischer G, Fish A, Fisk I, Fombonne E, Foster M, Fox E, Francis S, Friedman S, Ganesan S, Garrett M, Gazestani V, Geisheker M, Gerdts J, Geschwind D, Ghaziuddin M, Gibbs R, Goin-Kochel R, Gonzalez N, Goudreau L, Griswold A, Grosvenor L, Gruber A, Gulsrud A, Gunderson J, Gunter C, Gupta A, Gutierrez A, Hale M, Haley M, Hall J, Hamer K, Han B, Hanna N, Hardan A, Harkins C, Harrington G, Harris J, Harris N, Hauf B, Hayes C, Heerwagen K, Hepburn S, Herbert L, Heyman M, Higgins L, Hilscher B, Hofammann E, Hojlo M, Horner S, Hsieh A, Hu J, Huang-Storms L, Hunter S, Hutter H, Istephanous D, Jacob S, Jaramillo N, Jelinek A, Jensen W, Jones M, Jordy M, Jorgenson A, Jou R, Pablo Juarez A, Judge J, Jurayj J, Kalmus T, Kanne S, Kaplan H, Kasparson L, Kent M, Hyun Kim S, Kitaygorodsky A, Koene H, Koomar T, Korchina V, Krentz A, Lam Schneider H, Lamarche E, Lampert E, Landa R, Lash A, Kiely Law J, Lawson N, Layman K, Lechniak H, Lee S, Lee S, Lee Coury D, Lese Martin C, Lesher L, Li H, Li D, Lillie N, Liu X, Lopez M, Lord C, Lowe K, Mallardi M, Manning P, Manoharan J, Marini R, Martin C, Marzano G, Mason A, Mastel S, Matthews E, McCracken J, McKenzie A, Miceli A, Michaelson J, Milliken A, Mohiuddin S, Momin Z, Morrier M, Mostofsky S, Murali S, Muzny D, Myers V, Neely J, Nessner C, Nicholson A, Niederhouser M, O'Brien K, O'Connor E, O'Neil M, O'Roak B, Ochoa-Lubinoff C, Orobio J, Orrick L, Ortiz C, Ousley O, Pacheco L, Palmer S, Pandey J, Marie Paolicelli A, Pawlowski K, Pierce K, Piven J, Plate S, Polanco J, Popp M, Pottschmidt N, Pramparo T, Prock L, Qi H, Qiu S, Rachubinski A, Rajbhandari K, Rana R, Ranganathan V, Raymond L, Remington R, Rice C, Rigby C, Robertson B, Rodriguez N, Rodriguez B, Roeder K, Rosenberg C, Russo-Ponsaran N, Ruzzo E, Sabo A, Sahin M, Salomatov A, Sandhu S, Santangelo S, Sarver D, Scherr J, Schultz R, Schweers K, Shaffer R, Shah S, Shaikh T, Shen Y, Shocklee A, Shulman L, Siegel M, Simon A, Simon L, Singh V, Skinner S, Smith C, Smith K, Snyder L, Soorya L, Soucy A, Stamps D, Steele M, Stephens A, Stock C, Sullivan C, Sutcliffe J, Sutcliffe J, Swanson A, Tafolla M, Takahashi N, Taylor C, Thomas C, Thomas T, Thompson S, Tjernagel J, Turner T, Valicenti-McDermott M, Van Metre B, Van Wade C, Veenstra-Vanderweele J, Verdi M, Vernoia B, Volfovsky N, Wallace J, Walston C, Wang J, Wang T, Warren Z, Wasserburg L, White S, Casey White-Lehman L, Wodka E, Xu S, Yang W, Yinger M, Youngkin S, Yu T, Zang L, Zaydens H, Zhang H, Zhao H, Zhou X, Zick A. Beliefs in vaccine as causes of autism among SPARK cohort caregivers. Vaccine. 2020 February; 38(7):1794-1803. doi: 10.1016/j.vaccine.2019.12.026.

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Wojcik MH, Schwartz TS, Thiele KE, Paterson H, Stadelmaier R, Mullen TE, VanNoy GE, Genetti CA, Madden JA, Gubbels CS, Yu TW, Tan WH, Agrawal PB. Infant mortality: the contribution of genetic disorders. J Perinatol. 2019 Dec;39(12):1611-1619. doi: 10.1038/s41372-019-0451-5. Epub 2019 Aug 8. PubMed PMID: 31395954; PubMed Central PMCID: PMC6879816.

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Burgess R, Wang S, McTague A, Boysen KE, Yang X, Zeng Q, Myers KA, Rochtus A, Trivisano M, Gill D, Sadleir LG, Specchio N, Guerrini R, Marini C, Zhang YH, Mefford HC, Kurian MA, Poduri AH, Scheffer IE. The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures. Ann Neurol. 2019 Dec;86(6):821-831. doi: 10.1002/ana.25619. PubMed PMID: 31618474; PubMed Central PMCID: PMC7423163.

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Gubbels C, VanNoy G, Madden J, Copenheaver D, Yang S, Wojcik M, Gold N, Genetti C, Stoler J, Parad R, Roumiantsev S, Bodamer O, Beggs A, Juusola J, Agrawal P, Yu T. Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield. Genetics in Medicine. 2019 November; 22(4):736-744. doi: 10.1038/s41436-019-0708-6.

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Kim J, Hu C, Moufawad El Achkar C, Black LE, Douville J, Larson A, Pendergast MK, Goldkind SF, Lee EA, Kuniholm A, Soucy A, Vaze J, Belur NR, Fredriksen K, Stojkovska I, Tsytsykova A, Armant M, DiDonato RL, Choi J, Cornelissen L, Pereira LM, Augustine EF, Genetti CA, Dies K, Barton B, Williams L, Goodlett BD, Riley BL, Pasternak A, Berry ER, Pflock KA, Chu S, Reed C, Tyndall K, Agrawal PB, Beggs AH, Grant PE, Urion DK, Snyder RO, Waisbren SE, Poduri A, Park PJ, Patterson A, Biffi A, Mazzulli JR, Bodamer O, Berde CB, Yu TW. Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease. N Engl J Med. 2019 Oct 24;381(17):1644-1652. doi: 10.1056/NEJMoa1813279. Epub 2019 Oct 9. PubMed PMID: 31597037; PubMed Central PMCID: PMC6961983.

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Kim J, Hu C, Moufawad El Achkar C, Black L, Douville J, Larson A, Pendergast M, Goldkind S, Lee E, Kuniholm A, Soucy A, Vaze J, Belur N, Fredriksen K, Stojkovska I, Tsytsykova A, Armant M, DiDonato R, Choi J, Cornelissen L, Pereira L, Augustine E, Genetti C, Dies K, Barton B, Williams L, Goodlett B, Riley B, Pasternak A, Berry E, Pflock K, Chu S, Reed C, Tyndall K, Agrawal P, Beggs A, Grant P, Urion D, Snyder R, Waisbren S, Poduri A, Park P, Patterson A, Biffi A, Mazzulli J, Bodamer O, Berde C, Yu T. Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease. New England Journal of Medicine. 2019 October; 381(17):1644-1652. doi: 10.1056/NEJMoa1813279.

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Kanca O, Andrews JC, Lee PT, Patel C, Braddock SR, Slavotinek AM, Cohen JS, Gubbels CS, Aldinger KA, Williams J, Indaram M, Fatemi A, Yu TW, Agrawal PB, Vezina G, Simons C, Crawford J, Lau CC, Chung WK, Markello TC, Dobyns WB, Adams DR, Gahl WA, Wangler MF, Yamamoto S, Bellen HJ, Malicdan MCV. De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. Am J Hum Genet. 2019 Sep 5;105(3):672-674. doi: 10.1016/j.ajhg.2019.07.017. PubMed PMID: 31491411; PubMed Central PMCID: PMC6732524.

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Schmitz-Abe K, Li Q, Rosen SM, Nori N, Madden JA, Genetti CA, Wojcik MH, Ponnaluri S, Gubbels CS, Picker JD, O'Donnell-Luria AH, Yu TW, Bodamer O, Brownstein CA, Beggs AH, Agrawal PB. Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes. Eur J Hum Genet. 2019 Sep;27(9):1398-1405. doi: 10.1038/s41431-019-0401-x. Epub 2019 Apr 12. PubMed PMID: 30979967; PubMed Central PMCID: PMC6777619.

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Kanca O, Andrews J, Lee P, Patel C, Braddock S, Slavotinek A, Cohen J, Gubbels C, Aldinger K, Williams J, Indaram M, Fatemi A, Yu T, Agrawal P, Vezina G, Simons C, Crawford J, Lau C, Chung W, Markello T, Dobyns W, Adams D, Gahl W, Wangler M, Yamamoto S, Bellen H, Malicdan M, Acosta M, Adams D, Agrawal P, Alejandro M, Allard P, Alvey J, Andrews A, Ashley E, Azamian M, Bacino C, Bademci G, Baker E, Balasubramanyam A, Baldridge D, Bale J, Barbouth D, Batzli G, Bayrak-Toydemir P, Beggs A, Bejerano G, Bellen H, Bernstein J, Berry G, Bican A, Bick D, Birch C, Bivona S, Bohnsack J, Bonnenmann C, Bonner D, Boone B, Bostwick B, Botto L, Briere L, Brokamp E, Brown D, Brush M, Burke E, Burrage L, Butte M, Carey J, Carrasquillo O, Chang T, Chao H, Clark G, Coakley T, Cobban L, Cogan J, Cole F, Colley H, Cooper C, Cope H, Craigen W, D'Souza P, Dasari S, Davids M, Dayal J, Dell'Angelica E, Dhar S, Dorrani N, Dorset D, Douine E, Draper D, Duncan L, Eckstein D, Emrick L, Eng C, Esteves C, Estwick T, Fernandez L, Ferreira C, Fieg E, Fisher P, Fogel B, Forghani I, Fresard L, Gahl W, Godfrey R, Goldman A, Goldstein D, Gourdine J, Grajewski A, Groden C, Gropman A, Haendel M, Hamid R, Hanchard N, Hayes N, High F, Holm I, Hom J, Huang A, Huang Y, Isasi R, Jamal F, Jiang Y, Johnston J, Jones A, Karaviti L, Kelley E, Kiley D, Koeller D, Kohane I, Kohler J, Krakow D, Krasnewich D, Korrick S, Koziura M, Krier J, Kyle J, Lalani S, Lam B, Lanpher B, Lanza I, Lau C, Lazar J, LeBlanc K, Lee B, Lee H, Levitt R, Levy S, Lewis R, Lincoln S, Liu P, Liu X, Longo N, Loo S, Loscalzo J, Maas R, Macnamara E, MacRae C, Maduro V, Majcherska M, Malicdan M, Mamounas L, Manolio T, Mao R, Markello T, Marom R, Marth G, Martin B, Martin M, Martínez-Agosto J, Marwaha S, May T, McCauley J, McConkie-Rosell A, McCormack C, McCray A, Metz T, Might M, Morava-Kozicz E, Moretti P, Morimoto M, Mulvihill J, Murdock D, Nath A, Nelson S, Newberry J, Newman J, Nicholas S, Novacic D, Oglesbee D, Orengo J, Pace L, Pak S, Pallais J, Palmer C, Papp J, Parker N, Phillips J, Posey J, Postlethwait J, Potocki L, Pusey B, Quinlan A, Raja A, Renteria G, Reuter C, Rives L, Robertson A, Rodan L, Rosenfeld J, Rowley R, Ruzhnikov M, Sacco R, Sampson J, Samson S, Saporta M, Schaechter J, Schedl T, Schoch K, Scott D, Shakachite L, Sharma P, Shashi V, Shields K, Shin J, Signer R, Sillari C, Silverman E, Sinsheimer J, Sisco K, Smith K, Solnica-Krezel L, Spillmann R, Stoler J, Stong N, Sullivan J, Sutton S, Sweetser D, Tabor H, Tamburro C, Tan Q, Tekin M, Telischi F, Thorson W, Tifft C, Toro C, Tran A, Urv T, Velinder M, Viskochil D, Vogel T, Wahl C, Walley N, Walsh C, Walker M, Wambach J, Wan J, Wang L, Wangler M, Ward P, Waters K, Webb-Robertson B, Wegner D, Westerfield M, Wheeler M, Wise A, Wolfe L, Woods J, Worthey E, Yamamoto S, Yang J, Yoon A, Yu G, Zastrow D, Zhao C, Zuchner S. De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. The American Journal of Human Genetics. 2019 September; 105(3):672-674. doi: 10.1016/j.ajhg.2019.07.017.

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Feliciano P, Zhou X, Astrovskaya I, Turner TN, Wang T, Brueggeman L, Barnard R, Hsieh A, Snyder LG, Muzny DM, Sabo A, Gibbs RA, Eichler EE, O'Roak BJ, Michaelson JJ, Volfovsky N, Shen Y, Chung WK. Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes. NPJ Genom Med. 2019;4:19. doi: 10.1038/s41525-019-0093-8. eCollection 2019. PubMed PMID: 31452935; PubMed Central PMCID: PMC6707204.

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Kanca O, Andrews J, Lee P, Patel C, Braddock S, Slavotinek A, Cohen J, Gubbels C, Aldinger K, Williams J, Indaram M, Fatemi A, Yu T, Agrawal P, Vezina G, Simons C, Crawford J, Lau C, Chung W, Markello T, Dobyns W, Adams D, Gahl W, Wangler M, Yamamoto S, Bellen H, Malicdan M, Acosta M, Adams D, Agrawal P, Alejandro M, Allard P, Alvey J, Andrews A, Ashley E, Azamian M, Bacino C, Bademci G, Baker E, Balasubramanyam A, Baldridge D, Bale J, Barbouth D, Batzli G, Bayrak-Toydemir P, Beggs A, Bejerano G, Bellen H, Bernstein J, Berry G, Bican A, Bick D, Birch C, Bivona S, Bohnsack J, Bonnenmann C, Bonner D, Boone B, Bostwick B, Botto L, Briere L, Brokamp E, Brown D, Brush M, Burke E, Burrage L, Butte M, Carey J, Carrasquillo O, Chang T, Chao H, Clark G, Coakley T, Cobban L, Cogan J, Cole F, Colley H, Cooper C, Cope H, Craigen W, D'Souza P, Dasari S, Davids M, Dayal J, Dell'Angelica E, Dhar S, Dorrani N, Dorset D, Douine E, Draper D, Duncan L, Eckstein D, Emrick L, Eng C, Esteves C, Estwick T, Fernandez L, Ferreira C, Fieg E, Fisher P, Fogel B, Forghani I, Fresard L, Gahl W, Godfrey R, Goldman A, Goldstein D, Gourdine J, Grajewski A, Groden C, Gropman A, Haendel M, Hamid R, Hanchard N, Hayes N, High F, Holm I, Hom J, Huang A, Huang Y, Isasi R, Jamal F, Jiang Y, Johnston J, Jones A, Karaviti L, Kelley E, Kiley D, Koeller D, Kohane I, Kohler J, Krakow D, Krasnewich D, Korrick S, Koziura M, Krier J, Kyle J, Lalani S, Lam B, Lanpher B, Lanza I, Lau C, Lazar J, LeBlanc K, Lee B, Lee H, Levitt R, Levy S, Lewis R, Lincoln S, Liu P, Liu X, Longo N, Loo S, Loscalzo J, Maas R, Macnamara E, MacRae C, Maduro V, Majcherska M, Malicdan M, Mamounas L, Manolio T, Mao R, Markello T, Marom R, Marth G, Martin B, Martin M, Martínez-Agosto J, Marwaha S, May T, McCauley J, McConkie-Rosell A, McCormack C, McCray A, Metz T, Might M, Morava-Kozicz E, Moretti P, Morimoto M, Mulvihill J, Murdock D, Nath A, Nelson S, Newberry J, Newman J, Nicholas S, Novacic D, Oglesbee D, Orengo J, Pace L, Pak S, Pallais J, Palmer C, Papp J, Parker N, Phillips J, Posey J, Postlethwait J, Potocki L, Pusey B, Quinlan A, Raja A, Renteria G, Reuter C, Rives L, Robertson A, Rodan L, Rosenfeld J, Rowley R, Ruzhnikov M, Sacco R, Sampson J, Samson S, Saporta M, Schaechter J, Schedl T, Schoch K, Scott D, Shakachite L, Sharma P, Shashi V, Shields K, Shin J, Signer R, Sillari C, Silverman E, Sinsheimer J, Sisco K, Smith K, Solnica-Krezel L, Spillmann R, Stoler J, Stong N, Sullivan J, Sutton S, Sweetser D, Tabor H, Tamburro C, Tan Q, Tekin M, Telischi F, Thorson W, Tifft C, Toro C, Tran A, Urv T, Velinder M, Viskochil D, Vogel T, Wahl C, Walley N, Walsh C, Walker M, Wambach J, Wan J, Wang L, Wangler M, Ward P, Waters K, Webb-Robertson B, Wegner D, Westerfield M, Wheeler M, Wise A, Wolfe L, Woods J, Worthey E, Yamamoto S, Yang J, Yoon A, Yu G, Zastrow D, Zhao C, Zuchner S. De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. The American Journal of Human Genetics. 2019 August; 105(2):413-424. doi: 10.1016/j.ajhg.2019.06.014.

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Doan RN, Lim ET, De Rubeis S, Betancur C, Cutler DJ, Chiocchetti AG, Overman LM, Soucy A, Goetze S, Freitag CM, Daly MJ, Walsh CA, Buxbaum JD, Yu TW. Recessive gene disruptions in autism spectrum disorder. Nat Genet. 2019 Jul;51(7):1092-1098. doi: 10.1038/s41588-019-0433-8. Epub 2019 Jun 17. PubMed PMID: 31209396; PubMed Central PMCID: PMC6629034.

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Doan R, Lim E, De Rubeis S, Betancur C, Cutler D, Chiocchetti A, Overman L, Soucy A, Goetze S, Freitag C, Daly M, Walsh C, Buxbaum J, Yu T. Recessive gene disruptions in autism spectrum disorder. Nature Genetics. 2019-6-; 51(7):1092-1098. doi: 10.1038/s41588-019-0433-8.

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Schmitz-Abe K, Li Q, Rosen S, Nori N, Madden J, Genetti C, Wojcik M, Ponnaluri S, Gubbels C, Picker J, O’Donnell-Luria A, Yu T, Bodamer O, Brownstein C, Beggs A, Agrawal P. Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes. European Journal of Human Genetics. 2019 April; 27(9):1398-1405. doi: 10.1038/s41431-019-0401-x.

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Genetti CA, Schwartz TS, Robinson JO, VanNoy GE, Petersen D, Pereira S, Fayer S, Peoples HA, Agrawal PB, Betting WN, Holm IA, McGuire AL, Waisbren SE, Yu TW, Green RC, Beggs AH, Parad RB. Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project. Genet Med. 2019 Mar;21(3):622-630. doi: 10.1038/s41436-018-0105-6. Epub 2018 Sep 13. PubMed PMID: 30209271; PubMed Central PMCID: PMC6420384.

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Ceyhan-Birsoy O, Murry JB, Machini K, Lebo MS, Yu TW, Fayer S, Genetti CA, Schwartz TS, Agrawal PB, Parad RB, Holm IA, McGuire AL, Green RC, Rehm HL, Beggs AH. Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project. Am J Hum Genet. 2019 Jan 3;104(1):76-93. doi: 10.1016/j.ajhg.2018.11.016. PubMed PMID: 30609409; PubMed Central PMCID: PMC6323417.

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Pereira S, Robinson JO, Gutierrez AM, Petersen DK, Hsu RL, Lee CH, Schwartz TS, Holm IA, Beggs AH, Green RC, McGuire AL. Perceived Benefits, Risks, and Utility of Newborn Genomic Sequencing in the BabySeq Project. Pediatrics. 2019 Jan;143(Suppl 1):S6-S13. doi: 10.1542/peds.2018-1099C. PubMed PMID: 30600265; PubMed Central PMCID: PMC6480393.

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VanNoy GE, Genetti CA, McGuire AL, Green RC, Beggs AH, Holm IA. Challenging the Current Recommendations for Carrier Testing in Children. Pediatrics. 2019 Jan;143(Suppl 1):S27-S32. doi: 10.1542/peds.2018-1099F. Review. PubMed PMID: 30600268; PubMed Central PMCID: PMC6433123.

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Holm IA, McGuire A, Pereira S, Rehm H, Green RC, Beggs AH. Returning a Genomic Result for an Adult-Onset Condition to the Parents of a Newborn: Insights From the BabySeq Project. Pediatrics. 2019 Jan;143(Suppl 1):S37-S43. doi: 10.1542/peds.2018-1099H. PubMed PMID: 30600270; PubMed Central PMCID: PMC6433124.

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Ceyhan-Birsoy O, Murry J, Machini K, Lebo M, Yu T, Fayer S, Genetti C, Schwartz T, Agrawal P, Parad R, Holm I, McGuire A, Green R, Rehm H, Beggs A, Agrawal P, Beggs A, Betting W, Ceyhan-Birsoy O, Christensen K, Dukhovny D, Fayer S, Frankel L, Genetti C, Graham C, Green R, Guiterrez A, Harden M, Holm I, Krier J, Lebo M, Levy H, Lu X, Machini K, McGuire A, Murry J, Naik M, Nguyen T, Parad R, Peoples H, Pereira S, Petersen D, Ramamurthy U, Ramanathan V, Rehm H, Roberts A, Robinson J, Roumiantsev S, Schwartz T, Truong T, VanNoy G, Waisbren S, Yu T. Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project. The American Journal of Human Genetics. 2019 January; 104(1):76-93. doi: 10.1016/j.ajhg.2018.11.016.

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Satterstrom F, Kosmicki J, Wang J, Breen M, De Rubeis S, An J, Peng M, Collins R, Grove J, Klei L, Stevens C, Reichert J, Mulhern M, Artomov M, Gerges S, Sheppard B, Xu X, Bhaduri A, Norman U, Brand H, Schwartz G, Nguyen R, Guerrero E, Dias C, Aleksic B, Anney R, Barbosa M, Bishop S, Brusco A, Bybjerg-Grauholm J, Carracedo A, Chan M, Chiocchetti A, Chung B, Coon H, Cuccaro M, Currò A, Bernardina B, Doan R, Domenici E, Dong S, Fallerini C, Fernández-Prieto M, Ferrero G, Freitag C, Fromer M, Gargus J, Geschwind D, Giorgio E, González-Peñas J, Guter S, Halpern D, Hansen-Kiss E, He X, Herman G, Hertz-Picciotto I, Hougaard D, Hultman C, Ionita-Laza I, Jacob S, Jamison J, Jugessur A, Kaartinen M, Knudsen G, Kolevzon A, Kushima I, Lee S, Lehtimäki T, Lim E, Lintas C, Lipkin W, Lopergolo D, Lopes F, Ludena Y, Maciel P, Magnus P, Mahjani B, Maltman N, Manoach D, Meiri G, Menashe I, Miller J, Minshew N, de Souza E, Moreira D, Morrow E, Mors O, Mortensen P, Mosconi M, Muglia P, Neale B, Nordentoft M, Ozaki N, Palotie A, Parellada M, Passos-Bueno M, Pericak-Vance M, Persico A, Pessah I, Puura K, Reichenberg A, Renieri A, Riberi E, Robinson E, Samocha K, Sandin S, Santangelo S, Schellenberg G, Scherer S, Schlitt S, Schmidt R, Schmitt L, Silva I, Singh T, Siper P, Smith M, Soares G, Stoltenberg C, Suren P, Susser E, Sweeney J, Szatmari P, Tang L, Tassone F, Teufel K, Trabetti E, Trelles M, Walsh C, Weiss L, Werge T, Werling D, Wigdor E, Wilkinson E, Willsey J, Yu T, Yu M, Yuen R, Zachi E, Betancur C, Cook E, Gallagher L, Gill M, Sutcliffe J, Thurm A, Zwick M, Børglum A, State M, Cicek A, Talkowski M, Cutler D, Devlin B, Sanders S, Roeder K, Daly M, Buxbaum J. Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism. [preprint]. 2018 November. doi: 10.1101/484113.

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Genetti C, Schwartz T, Robinson J, VanNoy G, Petersen D, Pereira S, Fayer S, Peoples H, Agrawal P, Betting W, Holm I, McGuire A, Waisbren S, Yu T, Green R, Beggs A, Parad R. Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project. Genetics in Medicine. 2018-9-; 21(3):622-630. doi: 10.1038/s41436-018-0105-6.

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Murry JB, Machini K, Ceyhan-Birsoy O, Kritzer A, Krier JB, Lebo MS, Fayer S, Genetti CA, VanNoy GE, Yu TW, Agrawal PB, Parad RB, Holm IA, McGuire AL, Green RC, Beggs AH, Rehm HL. Reconciling newborn screening and a novel splice variant in BTD associated with partial biotinidase deficiency: a BabySeq Project case report. Cold Spring Harb Mol Case Stud. 2018 Aug;4(4). doi: 10.1101/mcs.a002873. Print 2018 Aug. PubMed PMID: 29728376; PubMed Central PMCID: PMC6071571.

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Holm IA, Agrawal PB, Ceyhan-Birsoy O, Christensen KD, Fayer S, Frankel LA, Genetti CA, Krier JB, LaMay RC, Levy HL, McGuire AL, Parad RB, Park PJ, Pereira S, Rehm HL, Schwartz TS, Waisbren SE, Yu TW, Green RC, Beggs AH. The BabySeq project: implementing genomic sequencing in newborns. BMC Pediatr. 2018 Jul 9;18(1):225. doi: 10.1186/s12887-018-1200-1. PubMed PMID: 29986673; PubMed Central PMCID: PMC6038274.

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Holm I, Agrawal P, Ceyhan-Birsoy O, Christensen K, Fayer S, Frankel L, Genetti C, Krier J, LaMay R, Levy H, McGuire A, Parad R, Park P, Pereira S, Rehm H, Schwartz T, Waisbren S, Yu T, Green R, Beggs A. The BabySeq project: implementing genomic sequencing in newborns. BMC Pediatrics. 2018-7-; 18(1):-. doi: 10.1186/s12887-018-1200-1.

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Marsh APL, Edwards TJ, Galea C, Cooper HM, Engle EC, Jamuar SS, Méneret A, Moutard ML, Nava C, Rastetter A, Robinson G, Rouleau G, Roze E, Spencer-Smith M, Trouillard O, Billette de Villemeur T, Walsh CA, Yu TW, Heron D, Sherr EH, Richards LJ, Depienne C, Leventer RJ, Lockhart PJ. DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome. Hum Mutat. 2018 Jan;39(1):23-39. doi: 10.1002/humu.23361. Epub 2017 Nov 11. Review. PubMed PMID: 29068161; PubMed Central PMCID: PMC5722687.

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Marsh A, Edwards T, Galea C, Cooper H, Engle E, Jamuar S, Méneret A, Moutard M, Nava C, Rastetter A, Robinson G, Rouleau G, Roze E, Spencer-Smith M, Trouillard O, Billette de Villemeur T, Walsh C, Yu T, Heron D, Sherr E, Richards L, Depienne C, Leventer R, Lockhart P. DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome. Human Mutation. 2018 January; 39(1):23-39. doi: 10.1002/humu.23361.

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Wang X, Zhang Z, Morris N, Cai T, Lee S, Wang C, Yu TW, Walsh CA, Lin X. Rare variant association test in family-based sequencing studies. Brief Bioinform. 2017 Nov 1;18(6):954-961. doi: 10.1093/bib/bbw083. PubMed PMID: 27677958; PubMed Central PMCID: PMC5862290.

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Lim ET, Uddin M, De Rubeis S, Chan Y, Kamumbu AS, Zhang X, D'Gama AM, Kim SN, Hill RS, Goldberg AP, Poultney C, Minshew NJ, Kushima I, Aleksic B, Ozaki N, Parellada M, Arango C, Penzol MJ, Carracedo A, Kolevzon A, Hultman CM, Weiss LA, Fromer M, Chiocchetti AG, Freitag CM, Church GM, Scherer SW, Buxbaum JD, Walsh CA. Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder. Nat Neurosci. 2017 Sep;20(9):1217-1224. doi: 10.1038/nn.4598. Epub 2017 Jul 17. PubMed PMID: 28714951; PubMed Central PMCID: PMC5672813.

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Srivastava S, Gubbels CS, Dies K, Fulton A, Yu T, Sahin M. Increased Survival and Partly Preserved Cognition in a Patient With ACO2-Related Disease Secondary to a Novel Variant. J Child Neurol. 2017 Aug;32(9):840-845. doi: 10.1177/0883073817711527. Epub 2017 May 25. PubMed PMID: 28545339; PubMed Central PMCID: PMC5515684.

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Evrony GD, Cordero DR, Shen J, Partlow JN, Yu TW, Rodin RE, Hill RS, Coulter ME, Lam AN, Jayaraman D, Gerrelli D, Diaz DG, Santos C, Morrison V, Galli A, Tschulena U, Wiemann S, Martel MJ, Spooner B, Ryu SC, Elhosary PC, Richardson JM, Tierney D, Robinson CA, Chibbar R, Diudea D, Folkerth R, Wiebe S, Barkovich AJ, Mochida GH, Irvine J, Lemire EG, Blakley P, Walsh CA. Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome. Genome Res. 2017 Aug;27(8):1323-1335. doi: 10.1101/gr.219899.116. Epub 2017 Jun 19. PubMed PMID: 28630177; PubMed Central PMCID: PMC5538549.

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Evrony G, Cordero D, Shen J, Partlow J, Yu T, Rodin R, Hill R, Coulter M, Lam A, Jayaraman D, Gerrelli D, Diaz D, Santos C, Morrison V, Galli A, Tschulena U, Wiemann S, Martel M, Spooner B, Ryu S, Elhosary P, Richardson J, Tierney D, Robinson C, Chibbar R, Diudea D, Folkerth R, Wiebe S, Barkovich A, Mochida G, Irvine J, Lemire E, Blakley P, Walsh C. Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome. Genome Research. 2017 August; 27(8):1323-1335. doi: 10.1101/gr.219899.116.

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Ceyhan-Birsoy O, Machini K, Lebo MS, Yu TW, Agrawal PB, Parad RB, Holm IA, McGuire A, Green RC, Beggs AH, Rehm HL. A curated gene list for reporting results of newborn genomic sequencing. Genet Med. 2017 Jul;19(7):809-818. doi: 10.1038/gim.2016.193. Epub 2017 Jan 12. PubMed PMID: 28079900; PubMed Central PMCID: PMC5507765.

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Weiner DJ, Wigdor EM, Ripke S, Walters RK, Kosmicki JA, Grove J, Samocha KE, Goldstein JI, Okbay A, Bybjerg-Grauholm J, Werge T, Hougaard DM, Taylor J, Skuse D, Devlin B, Anney R, Sanders SJ, Bishop S, Mortensen PB, Børglum AD, Smith GD, Daly MJ, Robinson EB. Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders. Nat Genet. 2017 Jul;49(7):978-985. doi: 10.1038/ng.3863. Epub 2017 May 15. PubMed PMID: 28504703; PubMed Central PMCID: PMC5552240.

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Srivastava S, Gubbels C, Dies K, Fulton A, Yu T, Sahin M. Increased Survival and Partly Preserved Cognition in a Patient With ACO2 -Related Disease Secondary to a Novel Variant. Journal of Child Neurology. 2017 May; 32(9):840-845. doi: 10.1177/0883073817711527.

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Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. Mol Autism. 2017;8:21. doi: 10.1186/s13229-017-0137-9. eCollection 2017. PubMed PMID: 28540026; PubMed Central PMCID: PMC5441062.