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Items: 1 to 50 of 239

1.

Discovery of Novel Therapeutics for Muscular Dystrophies using Zebrafish Phenotypic Screens.

Widrick JJ, Kawahara G, Alexander MS, Beggs AH, Kunkel LM.

J Neuromuscul Dis. 2019 Jul 2. doi: 10.3233/JND-190389. [Epub ahead of print]

PMID:
31282429
2.

MYL2-associated congenital fiber-type disproportion and cardiomyopathy with variants in additional neuromuscular disease genes; the dilemma of panel testing.

Marttila M, Win W, Al-Ghamdi F, Abdel-Hamid HZ, Lacomis D, Beggs AH.

Cold Spring Harb Mol Case Stud. 2019 Aug 1;5(4). pii: a004184. doi: 10.1101/mcs.a004184. Print 2019 Aug.

3.

Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes.

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.

Eur J Hum Genet. 2019 Sep;27(9):1398-1405. doi: 10.1038/s41431-019-0401-x. Epub 2019 Apr 12.

PMID:
30979967
4.

Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies.

Bachmann C, Noreen F, Voermans NC, Schär PL, Vissing J, Fock JM, Bulk S, Kusters B, Moore SA, Beggs AH, Mathews KD, Meyer M, Genetti CA, Meola G, Cardani R, Mathews E, Jungbluth H, Muntoni F, Zorzato F, Treves S.

Hum Mutat. 2019 Jul;40(7):962-974. doi: 10.1002/humu.23745. Epub 2019 Apr 1.

PMID:
30932294
5.

The Pediatric Cell Atlas: Defining the Growth Phase of Human Development at Single-Cell Resolution.

Taylor DM, Aronow BJ, Tan K, Bernt K, Salomonis N, Greene CS, Frolova A, Henrickson SE, Wells A, Pei L, Jaiswal JK, Whitsett J, Hamilton KE, MacParland SA, Kelsen J, Heuckeroth RO, Potter SS, Vella LA, Terry NA, Ghanem LR, Kennedy BC, Helbig I, Sullivan KE, Castelo-Soccio L, Kreigstein A, Herse F, Nawijn MC, Koppelman GH, Haendel M, Harris NL, Rokita JL, Zhang Y, Regev A, Rozenblatt-Rosen O, Rood JE, Tickle TL, Vento-Tormo R, Alimohamed S, Lek M, Mar JC, Loomes KM, Barrett DM, Uapinyoying P, Beggs AH, Agrawal PB, Chen YW, Muir AB, Garmire LX, Snapper SB, Nazarian J, Seeholzer SH, Fazelinia H, Singh LN, Faryabi RB, Raman P, Dawany N, Xie HM, Devkota B, Diskin SJ, Anderson SA, Rappaport EF, Peranteau W, Wikenheiser-Brokamp KA, Teichmann S, Wallace D, Peng T, Ding YY, Kim MS, Xing Y, Kong SW, Bönnemann CG, Mandl KD, White PS.

Dev Cell. 2019 Apr 8;49(1):10-29. doi: 10.1016/j.devcel.2019.03.001. Epub 2019 Mar 28. Review.

6.

The Genetic Landscape of Diamond-Blackfan Anemia.

Ulirsch JC, Verboon JM, Kazerounian S, Guo MH, Yuan D, Ludwig LS, Handsaker RE, Abdulhay NJ, Fiorini C, Genovese G, Lim ET, Cheng A, Cummings BB, Chao KR, Beggs AH, Genetti CA, Sieff CA, Newburger PE, Niewiadomska E, Matysiak M, Vlachos A, Lipton JM, Atsidaftos E, Glader B, Narla A, Gleizes PE, O'Donohue MF, Montel-Lehry N, Amor DJ, McCarroll SA, O'Donnell-Luria AH, Gupta N, Gabriel SB, MacArthur DG, Lander ES, Lek M, Da Costa L, Nathan DG, Korostelev AA, Do R, Sankaran VG, Gazda HT.

Am J Hum Genet. 2019 Feb 7;104(2):356. doi: 10.1016/j.ajhg.2018.12.011. No abstract available.

7.

Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project.

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; BabySeq Project Team.

Am J Hum Genet. 2019 Jan 3;104(1):76-93. doi: 10.1016/j.ajhg.2018.11.016.

8.

Returning a Genomic Result for an Adult-Onset Condition to the Parents of a Newborn: Insights From the BabySeq Project.

Holm IA, McGuire A, Pereira S, Rehm H, Green RC, Beggs AH; BabySeq Project Team.

Pediatrics. 2019 Jan;143(Suppl 1):S37-S43. doi: 10.1542/peds.2018-1099H.

9.

Challenging the Current Recommendations for Carrier Testing in Children.

VanNoy GE, Genetti CA, McGuire AL, Green RC, Beggs AH, Holm IA; BabySeq Project Group.

Pediatrics. 2019 Jan;143(Suppl 1):S27-S32. doi: 10.1542/peds.2018-1099F.

10.

Perceived Benefits, Risks, and Utility of Newborn Genomic Sequencing in the BabySeq Project.

Pereira S, Robinson JO, Gutierrez AM, Petersen DK, Hsu RL, Lee CH, Schwartz TS, Holm IA, Beggs AH, Green RC, McGuire AL; BabySeq Project Group.

Pediatrics. 2019 Jan;143(Suppl 1):S6-S13. doi: 10.1542/peds.2018-1099C.

11.

The Genetic Landscape of Diamond-Blackfan Anemia.

Ulirsch JC, Verboon JM, Kazerounian S, Guo MH, Yuan D, Ludwig LS, Handsaker RE, Abdulhay NJ, Fiorini C, Genovese G, Lim ET, Cheng A, Cummings BB, Chao KR, Beggs AH, Genetti CA, Sieff CA, Newburger PE, Niewiadomska E, Matysiak M, Vlachos A, Lipton JM, Atsidaftos E, Glader B, Narla A, Gleizes PE, O'Donohue MF, Montel-Lehry N, Amor DJ, McCarroll SA, O'Donnell-Luria AH, Gupta N, Gabriel SB, MacArthur DG, Lander ES, Lek M, Da Costa L, Nathan DG, Korostelev AA, Do R, Sankaran VG, Gazda HT.

Am J Hum Genet. 2018 Dec 6;103(6):930-947. doi: 10.1016/j.ajhg.2018.10.027. Epub 2018 Nov 29. Erratum in: Am J Hum Genet. 2019 Feb 7;104(2):356.

12.

ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis.

Deisseroth CA, Birgmeier J, Bodle EE, Kohler JN, Matalon DR, Nazarenko Y, Genetti CA, Brownstein CA, Schmitz-Abe K, Schoch K, Cope H, Signer R; Undiagnosed Diseases Network, Martinez-Agosto JA, Shashi V, Beggs AH, Wheeler MT, Bernstein JA, Bejerano G.

Genet Med. 2019 Jul;21(7):1585-1593. doi: 10.1038/s41436-018-0381-1. Epub 2018 Dec 5.

13.

De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case report.

Mavros CF, Brownstein CA, Thyagrajan R, Genetti CA, Tembulkar S, Graber K, Murphy Q, Cabral K, VanNoy GE, Bainbridge M, Shi J, Agrawal PB, Beggs AH, D'Angelo E, Gonzalez-Heydrich J.

BMC Med Genet. 2018 Nov 13;19(1):197. doi: 10.1186/s12881-018-0711-9.

14.

Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project.

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; BabySeq Project Team.

Genet Med. 2019 Mar;21(3):622-630. doi: 10.1038/s41436-018-0105-6. Epub 2018 Sep 13.

15.

The BabySeq project: implementing genomic sequencing in newborns.

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; BabySeq Project Team, Green RC, Beggs AH.

BMC Pediatr. 2018 Jul 9;18(1):225. doi: 10.1186/s12887-018-1200-1.

16.

Expanding the phenotypic spectrum associated with OPHN1 variants.

Schwartz TS, Wojcik MH, Pelletier RC, Edward HL, Picker JD, Holm IA, Towne MC, Beggs AH, Agrawal PB.

Eur J Med Genet. 2019 Feb;62(2):137-143. doi: 10.1016/j.ejmg.2018.06.015. Epub 2018 Jun 28.

PMID:
29960046
17.

An open source microcontroller based flume for evaluating swimming performance of larval, juvenile, and adult zebrafish.

Widrick JJ, Gibbs DE, Sanchez B, Gupta VA, Pakula A, Lawrence C, Beggs AH, Kunkel LM.

PLoS One. 2018 Jun 26;13(6):e0199712. doi: 10.1371/journal.pone.0199712. eCollection 2018.

18.

De novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome.

Torres A, Brownstein CA, Tembulkar SK, Graber K, Genetti C, Kleiman RJ, Sweadner KJ, Mavros C, Liu KX, Smedemark-Margulies N, Maski K, Yang E, Agrawal PB, Shi J, Beggs AH, D'Angelo E, Lincoln SH, Carroll D, Dedeoglu F, Gahl WA, Biggs CM, Swoboda KJ, Berry GT, Gonzalez-Heydrich J.

Mol Genet Metab Rep. 2018 Jun 15;16:23-29. doi: 10.1016/j.ymgmr.2018.06.001. eCollection 2018 Sep.

19.

Reconciling newborn screening and a novel splice variant in BTD associated with partial biotinidase deficiency: a BabySeq Project case report.

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; BabySeq Project Team.

Cold Spring Harb Mol Case Stud. 2018 Aug 1;4(4). pii: a002873. doi: 10.1101/mcs.a002873. Print 2018 Aug.

20.

Congenital Titinopathy: Comprehensive characterization and pathogenic insights.

Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, Mowat D, Fitzsimons RB, Corbett AJ, Ryan MM, O'Grady GL, Sandaradura SA, Ghaoui R, Joshi H, Marshall JL, Nolan MA, Kaur S, Punetha J, Töpf A, Harris E, Bakshi M, Genetti CA, Marttila M, Werlauff U, Streichenberger N, Pestronk A, Mazanti I, Pinner JR, Vuillerot C, Grosmann C, Camacho A, Mohassel P, Leach ME, Foley AR, Bharucha-Goebel D, Collins J, Connolly AM, Gilbreath HR, Iannaccone ST, Castro D, Cummings BB, Webster RI, Lazaro L, Vissing J, Coppens S, Deconinck N, Luk HM, Thomas NH, Foulds NC, Illingworth MA, Ellard S, McLean CA, Phadke R, Ravenscroft G, Witting N, Hackman P, Richard I, Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bönnemann CG, MacArthur DG, Granzier H, Davis MR, Laing NG.

Ann Neurol. 2018 Jun;83(6):1105-1124. doi: 10.1002/ana.25241.

21.

Sarcomeric and nonmuscle α-actinin isoforms exhibit differential dynamics at skeletal muscle Z-lines.

Hsu CP, Moghadaszadeh B, Hartwig JH, Beggs AH.

Cytoskeleton (Hoboken). 2018 May;75(5):213-228. doi: 10.1002/cm.21442. Epub 2018 Apr 1.

22.

RNA helicase, DDX27 regulates skeletal muscle growth and regeneration by modulation of translational processes.

Bennett AH, O'Donohue MF, Gundry SR, Chan AT, Widrick J, Draper I, Chakraborty A, Zhou Y, Zon LI, Gleizes PE, Beggs AH, Gupta VA.

PLoS Genet. 2018 Mar 8;14(3):e1007226. doi: 10.1371/journal.pgen.1007226. eCollection 2018 Mar.

23.

SPEG-deficient skeletal muscles exhibit abnormal triad and defective calcium handling.

Huntoon V, Widrick JJ, Sanchez C, Rosen SM, Kutchukian C, Cao S, Pierson CR, Liu X, Perrella MA, Beggs AH, Jacquemond V, Agrawal PB.

Hum Mol Genet. 2018 May 1;27(9):1608-1617. doi: 10.1093/hmg/ddy068.

24.

Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1-related nemaline myopathy (NEM3).

Joureau B, de Winter JM, Conijn S, Bogaards SJP, Kovacevic I, Kalganov A, Persson M, Lindqvist J, Stienen GJM, Irving TC, Ma W, Yuen M, Clarke NF, Rassier DE, Malfatti E, Romero NB, Beggs AH, Ottenheijm CAC.

Ann Neurol. 2018 Feb;83(2):269-282. doi: 10.1002/ana.25144. Epub 2018 Feb 6.

25.

A multicenter, retrospective medical record review of X-linked myotubular myopathy: The recensus study.

Beggs AH, Byrne BJ, De Chastonay S, Haselkorn T, Hughes I, James ES, Kuntz NL, Simon J, Swanson LC, Yang ML, Yu ZF, Yum SW, Prasad S.

Muscle Nerve. 2018 Apr;57(4):550-560. doi: 10.1002/mus.26018. Epub 2017 Dec 22.

26.

Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early death.

Cao S, Smith LL, Padilla-Lopez SR, Guida BS, Blume E, Shi J, Morton SU, Brownstein CA, Beggs AH, Kruer MC, Agrawal PB.

Hum Mol Genet. 2017 Sep 15;26(18):3545-3552. doi: 10.1093/hmg/ddx239.

27.

A natural history study of X-linked myotubular myopathy.

Amburgey K, Tsuchiya E, de Chastonay S, Glueck M, Alverez R, Nguyen CT, Rutkowski A, Hornyak J, Beggs AH, Dowling JJ.

Neurology. 2017 Sep 26;89(13):1355-1364. doi: 10.1212/WNL.0000000000004415. Epub 2017 Aug 25.

28.

Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals.

Wojcik MH, Wierenga KJ, Rodan LH, Sahai I, Ferdinandusse S, Genetti CA, Towne MC, Peake RWA, James PM, Beggs AH, Brownstein CA, Berry GT, Agrawal PB.

JIMD Rep. 2018;39:45-54. doi: 10.1007/8904_2017_45. Epub 2017 Jul 20.

29.

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.

Cummings BB, Marshall JL, Tukiainen T, Lek M, Donkervoort S, Foley AR, Bolduc V, Waddell LB, Sandaradura SA, O'Grady GL, Estrella E, Reddy HM, Zhao F, Weisburd B, Karczewski KJ, O'Donnell-Luria AH, Birnbaum D, Sarkozy A, Hu Y, Gonorazky H, Claeys K, Joshi H, Bournazos A, Oates EC, Ghaoui R, Davis MR, Laing NG, Topf A; Genotype-Tissue Expression Consortium, Kang PB, Beggs AH, North KN, Straub V, Dowling JJ, Muntoni F, Clarke NF, Cooper ST, Bönnemann CG, MacArthur DG.

Sci Transl Med. 2017 Apr 19;9(386). pii: eaal5209. doi: 10.1126/scitranslmed.aal5209.

30.

Long-term effects of systemic gene therapy in a canine model of myotubular myopathy.

Elverman M, Goddard MA, Mack D, Snyder JM, Lawlor MW, Meng H, Beggs AH, Buj-Bello A, Poulard K, Marsh AP, Grange RW, Kelly VE, Childers MK.

Muscle Nerve. 2017 Nov;56(5):943-953. doi: 10.1002/mus.25658. Epub 2017 May 22.

31.

AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant.

Morton SU, Prabhu SP, Lidov HGW, Shi J, Anselm I, Brownstein CA, Bainbridge MN, Beggs AH, Vargas SO, Agrawal PB.

Cold Spring Harb Mol Case Stud. 2017 Mar;3(2):a001560. doi: 10.1101/mcs.a001560.

32.

Systemic AAV8-Mediated Gene Therapy Drives Whole-Body Correction of Myotubular Myopathy in Dogs.

Mack DL, Poulard K, Goddard MA, Latournerie V, Snyder JM, Grange RW, Elverman MR, Denard J, Veron P, Buscara L, Le Bec C, Hogrel JY, Brezovec AG, Meng H, Yang L, Liu F, O'Callaghan M, Gopal N, Kelly VE, Smith BK, Strande JL, Mavilio F, Beggs AH, Mingozzi F, Lawlor MW, Buj-Bello A, Childers MK.

Mol Ther. 2017 Apr 5;25(4):839-854. doi: 10.1016/j.ymthe.2017.02.004. Epub 2017 Feb 22.

33.

A Novel Missense Variant in the AGRN Gene; Congenital Myasthenic Syndrome Presenting With Head Drop.

Karakaya M, Ceyhan-Birsoy O, Beggs AH, Topaloglu H.

J Clin Neuromuscul Dis. 2017 Mar;18(3):147-151. doi: 10.1097/CND.0000000000000132.

34.

Drug discovery for Diamond-Blackfan anemia using reprogrammed hematopoietic progenitors.

Doulatov S, Vo LT, Macari ER, Wahlster L, Kinney MA, Taylor AM, Barragan J, Gupta M, McGrath K, Lee HY, Humphries JM, DeVine A, Narla A, Alter BP, Beggs AH, Agarwal S, Ebert BL, Gazda HT, Lodish HF, Sieff CA, Schlaeger TM, Zon LI, Daley GQ.

Sci Transl Med. 2017 Feb 8;9(376). pii: eaah5645. doi: 10.1126/scitranslmed.aah5645.

35.

Newborn Sequencing in Genomic Medicine and Public Health.

Berg JS, Agrawal PB, Bailey DB Jr, Beggs AH, Brenner SE, Brower AM, Cakici JA, Ceyhan-Birsoy O, Chan K, Chen F, Currier RJ, Dukhovny D, Green RC, Harris-Wai J, Holm IA, Iglesias B, Joseph G, Kingsmore SF, Koenig BA, Kwok PY, Lantos J, Leeder SJ, Lewis MA, McGuire AL, Milko LV, Mooney SD, Parad RB, Pereira S, Petrikin J, Powell BC, Powell CM, Puck JM, Rehm HL, Risch N, Roche M, Shieh JT, Veeraraghavan N, Watson MS, Willig L, Yu TW, Urv T, Wise AL.

Pediatrics. 2017 Feb;139(2). pii: e20162252. doi: 10.1542/peds.2016-2252. Epub 2017 Jan 17.

36.

A curated gene list for reporting results of newborn genomic sequencing.

Ceyhan-Birsoy O, Machini K, Lebo MS, Yu TW, Agrawal PB, Parad RB, Holm IA, McGuire A, Green RC, Beggs AH, Rehm HL.

Genet Med. 2017 Jul;19(7):809-818. doi: 10.1038/gim.2016.193. Epub 2017 Jan 12.

37.

Muscle dysfunction in a zebrafish model of Duchenne muscular dystrophy.

Widrick JJ, Alexander MS, Sanchez B, Gibbs DE, Kawahara G, Beggs AH, Kunkel LM.

Physiol Genomics. 2016 Nov 1;48(11):850-860. doi: 10.1152/physiolgenomics.00088.2016. Epub 2016 Oct 7.

38.

Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

Mehta P, Küspert M, Bale T, Brownstein CA, Towne MC, De Girolami U, Shi J, Beggs AH, Darras BT, Wegner M, Piao X, Agrawal PB.

Muscle Nerve. 2017 May;55(5):761-765. doi: 10.1002/mus.25416. Epub 2017 Feb 3.

39.

A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia.

Smedemark-Margulies N, Brownstein CA, Vargas S, Tembulkar SK, Towne MC, Shi J, Gonzalez-Cuevas E, Liu KX, Bilguvar K, Kleiman RJ, Han MJ, Torres A, Berry GT, Yu TW, Beggs AH, Agrawal PB, Gonzalez-Heydrich J.

Cold Spring Harb Mol Case Stud. 2016 Sep;2(5):a001008. doi: 10.1101/mcs.a001008.

40.

SLC6A1 Mutation and Ketogenic Diet in Epilepsy With Myoclonic-Atonic Seizures.

Palmer S, Towne MC, Pearl PL, Pelletier RC, Genetti CA, Shi J, Beggs AH, Agrawal PB, Brownstein CA.

Pediatr Neurol. 2016 Nov;64:77-79. doi: 10.1016/j.pediatrneurol.2016.07.012. Epub 2016 Jul 28.

41.

Treatment with ActRIIB-mFc Produces Myofiber Growth and Improves Lifespan in the Acta1 H40Y Murine Model of Nemaline Myopathy.

Tinklenberg J, Meng H, Yang L, Liu F, Hoffmann RG, Dasgupta M, Allen KP, Beggs AH, Hardeman EC, Pearsall RS, Fitts RH, Lawlor MW.

Am J Pathol. 2016 Jun;186(6):1568-81. doi: 10.1016/j.ajpath.2016.02.008. Epub 2016 Apr 18.

42.

Expectation versus Reality: The Impact of Utility on Emotional Outcomes after Returning Individualized Genetic Research Results in Pediatric Rare Disease Research, a Qualitative Interview Study.

Cacioppo CN, Chandler AE, Towne MC, Beggs AH, Holm IA.

PLoS One. 2016 Apr 15;11(4):e0153597. doi: 10.1371/journal.pone.0153597. eCollection 2016.

43.

Mutation-specific effects on thin filament length in thin filament myopathy.

Winter JM, Joureau B, Lee EJ, Kiss B, Yuen M, Gupta VA, Pappas CT, Gregorio CC, Stienen GJ, Edvardson S, Wallgren-Pettersson C, Lehtokari VL, Pelin K, Malfatti E, Romero NB, Engelen BG, Voermans NC, Donkervoort S, Bönnemann CG, Clarke NF, Beggs AH, Granzier H, Ottenheijm CA.

Ann Neurol. 2016 Jun;79(6):959-69. doi: 10.1002/ana.24654. Epub 2016 Apr 30.

44.

Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reports.

Brownstein CA, Kleiman RJ, Engle EC, Towne MC, D'Angelo EJ, Yu TW, Beggs AH, Picker J, Fogler JM, Carroll D, Schmitt RC, Wolff RR, Shen Y, Lip V, Bilguvar K, Kim A, Tembulkar S, O'Donnell K, Gonzalez-Heydrich J.

Am J Med Genet A. 2016 May;170A(5):1165-73. doi: 10.1002/ajmg.a.37595. Epub 2016 Feb 16.

45.

Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons.

Lawlor MW, Beggs AH, Buj-Bello A, Childers MK, Dowling JJ, James ES, Meng H, Moore SA, Prasad S, Schoser B, Sewry CA.

J Neuropathol Exp Neurol. 2016 Feb;75(2):102-10. Review. Erratum in: J Neuropathol Exp Neurol. 2016 May;75(5):479.

46.

Development of Soft Tissue Sarcomas in Ribosomal Proteins L5 and S24 Heterozygous Mice.

Kazerounian S, Ciarlini PD, Yuan D, Ghazvinian R, Alberich-Jorda M, Joshi M, Zhang H, Beggs AH, Gazda HT.

J Cancer. 2016 Jan 1;7(1):32-6. doi: 10.7150/jca.13292. eCollection 2016.

47.

Muscle pathology, limb strength, walking gait, respiratory function and neurological impairment establish disease progression in the p.N155K canine model of X-linked myotubular myopathy.

Goddard MA, Mack DL, Czerniecki SM, Kelly VE, Snyder JM, Grange RW, Lawlor MW, Smith BK, Beggs AH, Childers MK.

Ann Transl Med. 2015 Oct;3(18):262. doi: 10.3978/j.issn.2305-5839.2015.10.31. Erratum in: Ann Transl Med. 2016 Jan;4(1):23.

48.

Gene replacement rescues severe muscle pathology and prolongs survival in myotubularin-deficient mice and dogs.

Childers MK, Beggs AH, Buj-Bello A.

Ann Transl Med. 2015 Oct;3(17):257. doi: 10.3978/j.issn.2305-5839.2015.10.01. No abstract available.

49.

Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations.

Brownstein CA, Beggs AH, Rodan L, Shi J, Towne MC, Pelletier R, Cao S, Rosenberg PA, Urion DK, Picker J, Tan WH, Agrawal PB.

Neurogenetics. 2016 Jan;17(1):11-6. doi: 10.1007/s10048-015-0460-2. Epub 2015 Sep 22.

50.

Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres.

Yuen M, Cooper ST, Marston SB, Nowak KJ, McNamara E, Mokbel N, Ilkovski B, Ravenscroft G, Rendu J, de Winter JM, Klinge L, Beggs AH, North KN, Ottenheijm CA, Clarke NF.

Hum Mol Genet. 2015 Nov 15;24(22):6278-92. doi: 10.1093/hmg/ddv334. Epub 2015 Aug 24.

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