2021 Virtual SciFam

Members of the Beggs Lab are excited to announce that they recently attended and presented at the 2021 Virtual SciFam Conference (May 21-22, 2021). Click on the link to learn to more about this conference!

Recent scientific publications

Last updated: September 2021

Members of the Beggs team, along with other affiliation and collaboration labs, continue to explore and further understand our knowledge of congenital myopathies. See below for the our most recent published articles (within the last three years). For a complete list of the Beggs publications (organized by category) please see our Publications page!

2021

Duncan AR, Polovitskaya MM, Gaitán-Peñas H, Bertelli S, VanNoy GE, Grant PE, O'Donnell-Luria A, Valivullah Z, Lovgren AK, England EM, Agolini E, Madden JA, Schmitz-Abe K, Kritzer A, Hawley P, Novelli A, Alfieri P, Colafati GS, Wieczorek D, Platzer K, Luppe J, Koch-Hogrebe M, Abou Jamra R, Neira-Fresneda J, Lehman A, Boerkoel CF, Seath K, Clarke L; CAUSES Study, van Ierland Y, Argilli E, Sherr EH, Maiorana A, Diel T, Hempel M, Bierhals T, Estévez R, Jentsch TJ, Pusch M, Agrawal PB. Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders. Am J Hum Genet. 2021 Aug 5.

Pereira S, Smith HS, Frankel LA, Christensen KD, Islam R, Robinson JO, Genetti CA, Blout Zawatsky CL, Zettler B, Parad RB, Waisbren SE, Beggs AH, Green RC, Holm IA, McGuire AL; BabySeq Project Team. Psychosocial Effect of Newborn Genomic Sequencing on Families in the BabySeq Project: A Randomized Clinical Trial. JAMA Pediatr. 2021 Aug 23.

Tabebordbar M, Lagerborg KA, Stanton A, King EM, Ye S, Tellez L, Krunnfusz A, Tavakoli S, Widrick JJ, Messemer KA, Troiano EC, Moghadaszadeh B, Peacker BL, Leacock KA, Horwitz N, Beggs AH, Wagers AJ, Sabeti PC. Directed evolution of a family of AAV capsid variants enabling potent muscle-directed gene delivery across species. Cell. 2021 Sep 4.

Lloyd A, Aggio D, Slocomb TL, Lee J, Beggs AH, Bilder D. Estimation of the Quality-of-Life Impact of X-Linked Myotubular Myopathy. J Neuromuscul Dis. 2021 Jul 6.

Schwartz TS, Christensen KD, Uveges MK, Waisbren SE, McGuire AL, Pereira S, Robinson JO, Beggs AH, Green RC; BabySeq Project Team, Bachmann GA, Rabson AB, Holm IA. Effects of participation in a U.S. trial of newborn genomic sequencing on parents at risk for depression. J Genet Couns. 2021 Jul 26.

de Winter JM, Gineste C, Minardi E, Brocca L, Rossi M, Borsboom T, Beggs AH, Bernard M, Bendahan D, Hwee DT, Malik FI, Pellegrino MA, Bottinelli R, Gondin J, Ottenheijm CAC. Acute and chronic tirasemtiv treatment improves in vivo and in vitro muscle performance in actin-based nemaline myopathy mice. Hum Mol Genet. 2021 Apr 28.

Sacks NC, Healey BE, Cyr PL, Slocomb T, James E, Beggs AH, Graham RJ. Costs and health resource use in patients with X-linked myotubular myopathy: insights from U.S. commercial claims. J Manag Care Spec Pharm. 2021 Apr 12:1-8. 

Li J, Hojlo MA, Chennuri S, Gujral N, Paterson HL, Shefchek KA, Genetti CA, Cohn EL, Sewalk KC, Garvey EA, Buttermore ED, Anderson NC, Beggs AH, Agrawal PB, Brownstein JS, Haendel MA, Holm IA, Gonzalez-Heydrich J, Brownstein CA. Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study. J Med Internet Res. 2021 Mar 16.

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 Mar 3.

Brownstein CA, Smith RS, Rodan LH, Gorman MP, Hojlo MA, Garvey EA, Li J, Cabral K, Bowen JJ, Rao AS, Genetti CA, Carroll D, Deaso EA, Agrawal PB, Rosenfeld JA, Bi W, Howe J, Stavropoulos DJ, Hansen AW, Hamoda HM, Pinard F, Caracansi A, Walsh CA, D'Angelo EJ, Beggs AH, Zarrei M, Gibbs RA, Scherer SW, Glahn DC, Gonzalez-Heydrich J. RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes. Mol Psychiatry. 2021 Feb 17.

Guo Y, Cao Y, Jardin BD, Sethi I, Ma Q, Moghadaszadeh B, Troiano EC, Mazumdar N, Trembley MA, Small EM, Yuan GC, Beggs AH, Pu WT. Sarcomeres regulate murine cardiomyocyte maturation through MRTF-SRF signaling. Proc Natl Acad Sci U S A. 2021 Jan 12; 118(2).

Amburgey K, Acker M, Saeed S, Amin R, Beggs AH, Bönnemann CG, Brudno M, Constantinescu A, Dastgir J, Diallo M, Genetti CA, Glueck M, Hewson S, Hum C, Jain MS, Lawlor MW, Meyer OH, Nelson L, Sultanum N, Syed F, Tran T, Wang CH, Dowling JJ. A Cross-Sectional Study of Nemaline Myopathy. Neurology. 2021 Jan 04.

Dyment DA, O'Donnell-Luria A, Agrawal PB, Coban Akdemir Z, Aleck KA, Antaki D, Al Sharhan H, Au PB, Aydin H, Beggs AH, Bilguvar K, Boerwinkle E, Brand H, Brownstein CA, Buyske S, Chodirker B, Choi J, Chudley AE, Clericuzio CL, Cox GF, Curry C, de Boer E, de Vries BBA, Dunn K, Dutmer CM, England EM, Fahrner JA, Geckinli BB, Genetti CA, Gezdirici A, Gibson WT, Gleeson JG, Greenberg CR, Hall A, Hamosh A, Hartley T, Jhangiani SN, Karaca E, Kernohan K, Lauzon JL, Lewis MES, Lowry RB, López-Giráldez F, Matise TC, McEvoy-Venneri J, McInnes B, Mhanni A, Garcia Minaur S, Moilanen J, Nguyen A, Nowaczyk MJM, Posey JE, Õunap K, Pehlivan D, Pajusalu S, Penney LS, Poterba T, Prontera P, Doriqui MJR, Sawyer SL, Sobreira N, Stanley V, Torun D, Wargowski D, Witmer PD, Wong I, Xing J, Zaki MS, Zhang Y, Boycott KM, Bamshad MJ, Nickerson DA, Blue EE, Innes AM. Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. Am J Med Genet A. 2021 Jan; 185(1):119-133.

2020

Silwal A., Sarkozy A., Scoto M., Ridout D., Schmidt A., Laverty A., Henriques M., D'Argenzio L., Main M., Mein R, Manzur A.Y., Abel F., Al-Ghamdi F., Genetti C.A., Ardicli D., Haliloglu G., Topaloglu H, Beggs A.H. Muntoni F. Selenoprotein N-related myopathy: a retrospective natural history study to guide clinical trials. Ann Clin Transl Neurol. 2020. doi: 10.1002/acn3.51218

Rosen S.M., Joshi M., Hitt T., Beggs A.H., Agrawal P.B. Knockin mouse model of the human CFL2 p.A35T mutation results in a unique splicing defect and severe myopathy phenotype. Hum Mol Genet. 2020; 29:1996-2003.

Rockowitz S., LeCompte N., Carmack M., Quitadamo A., Wang L., Park M., Knight D., Sexton E., Smith L., Sheidley B., Field M., Holm I.A., Brownstein C.A., Agrawal P.B., Kornetsky S., Poduri A., Snapper S.B., Beggs A.H., Yu T.W, Williams D.A., Sliz P. Children's rare disease cohorts: an integrative research and clinical genomics initiative. NPJ Genom Med. 2020; 5:29.

Birgmeier J., Haeussler M., Deisseroth C.A., Steinberg E.H., Jagadeesh K.A., Ratner A.J., Guturu H., Wenger A.M., Diekhans M.E., Stenson P.D., Cooper D.N., Ré C., Beggs A.H., Bernstein J.A., Bejerano G. AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature. Sci Transl Med. 2020; 12(544).

Mackay Z.P., Dukhovny D., Phillips K.A., Beggs A.H., Green R.C., Parad R.B., Christensen K.D. Quantifying Downstream Healthcare Utilization in Studies of Genomic Testing. Value Health. 2020; 23:559-565.

Pellerin D., Aykanat A., Ellezam B., Troiano E.C., Karamchandani J., Dicaire M.J., Petitclerc M., Robertson R., Allard-Chamard X., Brunet D., Konersman C.G., Mathieu J., Warman Chardon J., Gupta V.A., Beggs A.H., Brais B., Chrestian N. Novel Recessive TNNT1 Congenital Core-Rod Myopathy in French Canadians. Ann Neurol. 2020; 87:568-583.

de Winter J.M., Molenaar J.P., Yuen M., van der Pijl R., Shen S., Conijn S., van de Locht M., Willigenburg M., Bogaards S.J., van Kleef E.S., Lassche S., Persson M., Rassier D.E., Sztal T.E., Ruparelia A.A., Oorschot V., Ramm G., Hall T.E., Xiong Z., Johnson C.N., Li F., Kiss B., Lozano-Vidal N., Boon R.A., Marabita M., Nogara L., Blaauw B., Rodenburg R.J., Küsters B., Doorduin J., Beggs A.H., Granzier H., Campbell K., Ma W., Irving T., Malfatti E., Romero N.B., Bryson-Richardson R.J., van Engelen B.G., Voermans N.C., Ottenheijm C.A. KBTBD13 is an actin-binding protein that modulates muscle kinetics. J Clin Invest. 2020; 130:754-767.

Mandl K.D., Glauser T., Krantz I.D., Avillach P., Bartels A., Beggs A.H., Biswas S., Bourgeois F.T., Corsmo J., Dauber A., Devkota B., Fleisher G.R., Heath A.P., Helbig I., Hirschhorn J.N., Kilbourn J., Kong S.W., Kornetsky S., Majzoub J.A., Marsolo K., Martin L.J., Nix J., Schwarzhoff A., Stedman J., Strauss A., Sund K.L., Taylor D.M., White P.S., Marsh E., Grimberg A., Hawkes C. Correction: The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system. Genet Med. 2020; 22:449.

Villar-Quiles R.N., Catervi F., Cabet E., Juntas-Morales R., Genetti C.A., Gidaro T., Koparir A., Yüksel A., Coppens S., Deconinck N., Pierce-Hoffman E., Lornage X., Durigneux J., Laporte J., Rendu J., Romero N.B., Beggs A.H., Servais L., Cossée M., Olivé M., Böhm J., Duband-Goulet I., Ferreiro A. ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy. Ann Neurol. 2020; 87:217-232.

2019

Kim J., Hu, C., Moufawad El Achkar, C., Black L.E., Douville, J., Larson, A., Pendergast, M.K., Goldkind, S.F., Lee, E.A., Kuniholm, A., Soucy, A., Vaze, J., Belur, N.R., Fredriksen, K., Stojkovska, I., Tsytsykova, A., Armant, M., DiDonato, R.L., Choi, J., Cornelissen, L., Pereira, L.M., Augustine, E.F., Genetti, C.A., Dies, K., Barton, B., Williams, L., Goodlett, B.D., Riley, B.L., Pasternak, A., Berry, E.R., Pflock, K.A., Chu. S., Reed, C., Tyndall, K., Agrawal, P.B., Beggs, A.H., Grant, P.E., Urion, D.K., Snyder, R.O., Waisbren, S.E., Poduri, A., Park, P.J., Patterson, A., Biffi, A., Mazzulli, J.R., Bodamer, O., Berde, C.B., Yu, T.W. Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease. N Engl J Med. 2019 Oct 9. doi: 10.1056/NEJMoa1813279.

Graham, R. J., F. Muntoni, I. Hughes, S. W. Yum, N. L. Kuntz, M. L. Yang, B. J. Byrne, S. Prasad, R. Alvarez, C. A. Genetti, T. Haselkorn, E. S. James, L. B. LaRusso, M. Noursalehi, S. Rico, and A. H. Beggs. "Mortality and Respiratory Support in X-Linked Myotubular Myopathy: A Recensus Retrospective Analysis." Arch Dis Child (2019).

Schmitz-Abe, K., Q. Li, S. M. Rosen, N. Nori, J. A. Madden, C. A. Genetti, M. H. Wojcik, S. Ponnaluri, C. S. Gubbels, J. D. Picker, A. H. O'Donnell-Luria, T. W. Yu, O. Bodamer, C. A. Brownstein, A. H. Beggs, and P. B. Agrawal. "Unique Bioinformatic Approach and Comprehensive Reanalysis Improve Diagnostic Yield of Clinical Exomes." Eur J Hum Genet 27, no. 9 (2019): 1398-405.

Mandl, K. D., T. Glauser, I. D. Krantz, P. Avillach, A. Bartels, A. H. Beggs, S. Biswas, F. T. Bourgeois, J. Corsmo, A. Dauber, B. Devkota, G. R. Fleisher, A. P. Heath, I. Helbig, J. N. Hirschhorn, J. Kilbourn, S. W. Kong, S. Kornetsky, J. A. Majzoub, K. Marsolo, L. J. Martin, J. Nix, A. Schwarzhoff, J. Stedman, A. Strauss, K. L. Sund, D. M. Taylor, and P. S. White. "The Genomics Research and Innovation Network: Creating an Interoperable, Federated, Genomics Learning System." Genet Med (2019).

Marttila, M., W. Win, F. Al-Ghamdi, H. Z. Abdel-Hamid, D. Lacomis, and A. H. Beggs. "Myl2-Associated Congenital Fiber-Type Disproportion and Cardiomyopathy with Variants in Additional Neuromuscular Disease Genes; the Dilemma of Panel Testing." Cold Spring Harb Mol Case Stud 5, no. 4 (2019).

Bachmann, C., F. Noreen, N. C. Voermans, P. L. Schar, J. Vissing, J. M. Fock, S. Bulk, B. Kusters, S. A. Moore, A. H. Beggs, K. D. Mathews, M. Meyer, C. A. Genetti, G. Meola, R. Cardani, E. Mathews, H. Jungbluth, F. Muntoni, F. Zorzato, and S. Treves. "Aberrant Regulation of Epigenetic Modifiers Contributes to the Pathogenesis in Patients with Selenoprotein N-Related Myopathies." Hum Mutat 40, no. 7 (2019): 962-74.

Deisseroth, C. A., J. Birgmeier, E. E. Bodle, J. N. Kohler, D. R. Matalon, Y. Nazarenko, C. A. Genetti, C. A. Brownstein, K. Schmitz-Abe, K. Schoch, H. Cope, R. Signer, J. A. Martinez-Agosto, V. Shashi, A. H. Beggs, M. T. Wheeler, J. A. Bernstein, and G. Bejerano. "Clinphen Extracts and Prioritizes Patient Phenotypes Directly from Medical Records to Expedite Genetic Disease Diagnosis." Genet Med 21, no. 7 (2019): 1585-93.

Taylor, D. M., B. J. Aronow, K. Tan, K. Bernt, N. Salomonis, C. S. Greene, A. Frolova, S. E. Henrickson, A. Wells, L. Pei, J. K. Jaiswal, J. Whitsett, K. E. Hamilton, S. A. MacParland, J. Kelsen, R. O. Heuckeroth, S. S. Potter, L. A. Vella, N. A. Terry, L. R. Ghanem, B. C. Kennedy, I. Helbig, K. E. Sullivan, L. Castelo-Soccio, A. Kreigstein, F. Herse, M. C. Nawijn, G. H. Koppelman, M. Haendel, N. L. Harris, J. L. Rokita, Y. Zhang, A. Regev, O. Rozenblatt-Rosen, J. E. Rood, T. L. Tickle, R. Vento-Tormo, S. Alimohamed, M. Lek, J. C. Mar, K. M. Loomes, D. M. Barrett, P. Uapinyoying, A. H. Beggs, P. B. Agrawal, Y. W. Chen, A. B. Muir, L. X. Garmire, S. B. Snapper, J. Nazarian, S. H. Seeholzer, H. Fazelinia, L. N. Singh, R. B. Faryabi, P. Raman, N. Dawany, H. M. Xie, B. Devkota, S. J. Diskin, S. A. Anderson, E. F. Rappaport, W. Peranteau, K. A. Wikenheiser-Brokamp, S. Teichmann, D. Wallace, T. Peng, Y. Y. Ding, M. S. Kim, Y. Xing, S. W. Kong, C. G. Bonnemann, K. D. Mandl, and P. S. White. "The Pediatric Cell Atlas: Defining the Growth Phase of Human Development at Single-Cell Resolution." Dev Cell 49, no. 1 (2019): 10-29.

Schwartz, T. S., M. H. Wojcik, R. C. Pelletier, H. L. Edward, J. D. Picker, I. A. Holm, M. C. Towne, A. H. Beggs, and P. B. Agrawal. "Expanding the Phenotypic Spectrum Associated with Ophn1 Variants." Eur J Med Genet 62, no. 2 (2019): 137-43.

Ulirsch, J. C., J. M. Verboon, S. Kazerounian, M. H. Guo, D. Yuan, L. S. Ludwig, R. E. Handsaker, N. J. Abdulhay, C. Fiorini, G. Genovese, E. T. Lim, A. Cheng, B. B. Cummings, K. R. Chao, A. H. Beggs, C. A. Genetti, C. A. Sieff, P. E. Newburger, E. Niewiadomska, M. Matysiak, A. Vlachos, J. M. Lipton, E. Atsidaftos, B. Glader, A. Narla, P. E. Gleizes, M. F. O'Donohue, N. Montel-Lehry, D. J. Amor, S. A. McCarroll, A. H. O'Donnell-Luria, N. Gupta, S. B. Gabriel, D. G. MacArthur, E. S. Lander, M. Lek, L. Da Costa, D. G. Nathan, A. A. Korostelev, R. Do, V. G. Sankaran, and H. T. Gazda. "The Genetic Landscape of Diamond-Blackfan Anemia." Am J Hum Genet 104, no. 2 (2019): 356.

Ceyhan-Birsoy, O., J. B. Murry, K. Machini, M. S. Lebo, T. W. Yu, S. Fayer, C. A. Genetti, T. S. Schwartz, P. B. Agrawal, R. B. Parad, I. A. Holm, A. L. McGuire, R. C. Green, H. L. Rehm, and A. H. Beggs. "Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the Babyseq Project." Am J Hum Genet 104, no. 1 (2019): 76-93.

Genetti, C. A., T. S. Schwartz, J. O. Robinson, G. E. VanNoy, D. Petersen, S. Pereira, S. Fayer, H. A. Peoples, P. B. Agrawal, W. N. Betting, I. A. Holm, A. L. McGuire, S. E. Waisbren, T. W. Yu, R. C. Green, A. H. Beggs, and R. B. Parad. "Parental Interest in Genomic Sequencing of Newborns: Enrollment Experience from the Babyseq Project." Genet Med 21, no. 3 (2019): 622-30.

Holm, I. A., A. McGuire, S. Pereira, H. Rehm, R. C. Green, and A. H. Beggs. "Returning a Genomic Result for an Adult-Onset Condition to the Parents of a Newborn: Insights from the Babyseq Project." Pediatrics 143, no. Suppl 1 (2019).

Pereira, S., J. O. Robinson, A. M. Gutierrez, D. K. Petersen, R. L. Hsu, C. H. Lee, T. S. Schwartz, I. A. Holm, A. H. Beggs, R. C. Green, and A. L. McGuire. "Perceived Benefits, Risks, and Utility of Newborn Genomic Sequencing in the Babyseq Project." Pediatrics 143, no. Suppl 1 (2019): S6-s13.

VanNoy, G. E., C. A. Genetti, A. L. McGuire, R. C. Green, A. H. Beggs, and I. A. Holm. "Challenging the Current Recommendations for Carrier Testing in Children." Pediatrics 143, no. Suppl 1 (2019): S27-s32.

Widrick, J. J., G. Kawahara, M. S. Alexander, A. H. Beggs, and L. M. Kunkel. "Discovery of Novel Therapeutics for Muscular Dystrophies Using Zebrafish Phenotypic Screens." J Neuromuscul Dis 6, no. 3 (2019): 271-87.

Beggs Lab news archive

Last updated: June 2021

Please see below to learn more about exciting past news from the Beggs Lab!

2020

WMS25: Virtual Congress

Members of the Beggs Lab are excited to announce that they recently attended the WMS 2020 Virtual Congress, where they were able to present the following posters:

2019

Mila’s hidden mutation and a drug just for her: Manton Center Investigator Dr. Timothy Yu and the development of personalized medicine

The Manton Center, along with Beggs Laboratory, is excited to share its role in helping with the development of personalized medicine for a young patient, Mila, diagnosed with Batten disease. Read more

Members of the Beggs team have been busy attending and presenting at several conferences this year! Click on the links below to learn more about these conferences!

 

2018

The BabySeq Project: One of the exciting new projects that the Beggs Laboratory has been collaborating on is the BabySeq Project, which looks at how genomic sequencing tools can efficiently and safely be implemented with for newborn screenings.

2017

Manton Center for Orphan Disease Research: Dr. Alan Beggs was named the Sir Edwin and Lady Manton Professor of Pediatrics in the Field of Genetics at Harvard Medical School, as well as the first Director of the new Manton Center for Orphan Disease Research at Children's Hospital. The center supports research and training, and it raises awareness and funding for the broad range of "orphan" diseases that affect people worldwide. For more information, please visit the Manton Center website.

This page was last updated June 15, 2022.

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