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Identification of Cardiac MRI Thresholds for Risk Stratification in Pulmonary Arterial Hypertension.

Lewis RA, Johns CS, Cogliano M, Capener D, Tubman E, Elliot CA, Charalampopoulos A, Sabroe I, Thompson AAR, Billings CG, Hamilton N, Baster K, Laud PJ, Hickey PM, Middleton J, Armstrong IJ, Hurdman JA, Lawrie A, Rothman AMK, Wild JM, Condliffe R, Swift AJ, Kiely DG.

Am J Respir Crit Care Med. 2019 Oct 24. doi: 10.1164/rccm.201909-1771OC. [Epub ahead of print]


Nr2f1 heterozygous knockout mice recapitulate neurological phenotypes of Bosch-Boonstra-Schaaf optic atrophy syndrome and show impaired hippocampal synaptic plasticity.

Chen CA, Wang W, Pedersen SE, Raman A, Seymour ML, Ruiz FR, Xia A, van der Heijden ME, Wang L, Yin J, Lopez J, Rech ME, Lewis RA, Wu SM, Liu Z, Pereira FA, Pautler RG, Zoghbi HY, Schaaf CP.

Hum Mol Genet. 2019 Oct 10. pii: ddz233. doi: 10.1093/hmg/ddz233. [Epub ahead of print]


Vertical asymmetric mitochondrial ophthalmoplegia.

Pineles SL, Lewis RA, Khanlou N, Velez FG.

Can J Ophthalmol. 2019 Oct;54(5):e230-e232. doi: 10.1016/j.jcjo.2019.01.008. Epub 2019 Apr 1. No abstract available.


An Exploratory Study of Person-Centered Care in a Large Urban Hemodialysis Program in Canada Using a Qualitative Case-Study Methodology.

Lewis RA, Benzies KM, MacRae J, Thomas C, Tonelli M.

Can J Kidney Health Dis. 2019 Sep 9;6:2054358119871539. doi: 10.1177/2054358119871539. eCollection 2019.


Patient-reported outcomes with subcutaneous immunoglobulin in chronic inflammatory demyelinating polyneuropathy: the PATH study.

Hartung HP, Mallick R, Bril V, Lewis RA, Sobue G, Lawo JP, Mielke O, Durn BL, Cornblath DR, Merkies ISJ, van Schaik IN; PATH study group.

Eur J Neurol. 2019 Aug 10. doi: 10.1111/ene.14056. [Epub ahead of print]


Long-term safety and efficacy of subcutaneous immunoglobulin IgPro20 in CIDP: PATH extension study.

van Schaik IN, Mielke O, Bril V, van Geloven N, Hartung HP, Lewis RA, Sobue G, Lawo JP, Praus M, Durn BL, Cornblath DR, Merkies ISJ; PATH study group.

Neurol Neuroimmunol Neuroinflamm. 2019 Jul 3;6(5):e590. doi: 10.1212/NXI.0000000000000590. eCollection 2019 Sep.


July consultation #8.

Lewis RA.

J Cataract Refract Surg. 2019 Jul;45(7):1051. doi: 10.1016/j.jcrs.2019.05.012. No abstract available.


Netarsudil/Latanoprost Fixed-Dose Combination for Elevated Intraocular Pressure: 3-Month Data From a Randomized Phase 3 Trial.

Asrani S, Robin AL, Serle JB, Lewis RA, Usner DW, Kopczynski CC, Heah T; Mercury-1 Study Group.

Am J Ophthalmol. 2019 Jun 20. pii: S0002-9394(19)30284-3. doi: 10.1016/j.ajo.2019.06.016. [Epub ahead of print]


Expanding the spectrum of immune mediated peripheral nerve disorders.

Lewis RA.

Muscle Nerve. 2019 Jun;59(6):640-642. doi: 10.1002/mus.26492. Epub 2019 Apr 26. No abstract available.


Lowe Syndrome.

Lewis RA, Nussbaum RL, Brewer ED.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2001 Jul 24 [updated 2019 Apr 18].


Genome-wide analysis of the role of the antibiotic biosynthesis regulator AbsA2 in Streptomyces coelicolor A3(2).

Lewis RA, Wahab A, Bucca G, Laing EE, Möller-Levet CS, Kierzek A, Smith CP.

PLoS One. 2019 Apr 10;14(4):e0200673. doi: 10.1371/journal.pone.0200673. eCollection 2019.


Knee Ultrasonography to Determine Risk for Noncontact Injuries in Collegiate American Football Players.

Lewis RA, Cook CR, Smith PA, Stannard JP, Sharp RL, Blecha KM, Cook JL.

J Knee Surg. 2019 Apr 8. doi: 10.1055/s-0039-1683953. [Epub ahead of print]


Identifying Mobile Applications Aimed at Self-Management in People With Chronic Kidney Disease.

Lewis RA, Lunney M, Chong C, Tonelli M.

Can J Kidney Health Dis. 2019 Mar 13;6:2054358119834283. doi: 10.1177/2054358119834283. eCollection 2019.


Once-Daily Netarsudil Versus Twice-Daily Timolol in Patients With Elevated Intraocular Pressure: The Randomized Phase 3 ROCKET-4 Study.

Khouri AS, Serle JB, Bacharach J, Usner DW, Lewis RA, Braswell P, Kopczynski CC, Heah T; Rocket-4 Study Group.

Am J Ophthalmol. 2019 Aug;204:97-104. doi: 10.1016/j.ajo.2019.03.002. Epub 2019 Mar 9.


Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.

Lord J, McMullan DJ, Eberhardt RY, Rinck G, Hamilton SJ, Quinlan-Jones E, Prigmore E, Keelagher R, Best SK, Carey GK, Mellis R, Robart S, Berry IR, Chandler KE, Cilliers D, Cresswell L, Edwards SL, Gardiner C, Henderson A, Holden ST, Homfray T, Lester T, Lewis RA, Newbury-Ecob R, Prescott K, Quarrell OW, Ramsden SC, Roberts E, Tapon D, Tooley MJ, Vasudevan PC, Weber AP, Wellesley DG, Westwood P, White H, Parker M, Williams D, Jenkins L, Scott RH, Kilby MD, Chitty LS, Hurles ME, Maher ER; Prenatal Assessment of Genomes and Exomes Consortium.

Lancet. 2019 Feb 23;393(10173):747-757. doi: 10.1016/S0140-6736(18)31940-8. Epub 2019 Jan 31.


Efficacy and safety of IVIG in CIDP: Combined data of the PRIMA and PATH studies.

Merkies ISJ, van Schaik IN, Léger JM, Bril V, van Geloven N, Hartung HP, Lewis RA, Sobue G, Lawo JP, Durn BL, Cornblath DR, De Bleecker JL, Sommer C, Robberecht W, Saarela M, Kamienowski J, Stelmasiak Z, Tackenberg B, Mielke O; PRIMA Trial Investigators and the PATH Study Group.

J Peripher Nerv Syst. 2019 Mar;24(1):48-55. doi: 10.1111/jns.12302. Epub 2019 Feb 15.


Restabilization treatment after intravenous immunoglobulin withdrawal in chronic inflammatory demyelinating polyneuropathy: Results from the pre-randomization phase of the Polyneuropathy And Treatment with Hizentra study.

Mielke O, Bril V, Cornblath DR, Lawo JP, van Geloven N, Hartung HP, Lewis RA, Merkies ISJ, Sobue G, Durn B, Shebl A, van Schaik IN; PATH study group.

J Peripher Nerv Syst. 2019 Mar;24(1):72-79. doi: 10.1111/jns.12303. Epub 2019 Mar 1.


January consultation #7.

Lewis RA.

J Cataract Refract Surg. 2019 Jan;45(1):110-111. doi: 10.1016/j.jcrs.2018.10.026. No abstract available.


Epidemiology of anophthalmia and microphthalmia: Prevalence and patterns in Texas, 1999-2009.

Chambers TM, Agopian AJ, Lewis RA, Langlois PH, Danysh HE, Weber KA, Shaw GM, Mitchell LE, Lupo PJ.

Am J Med Genet A. 2018 Sep;176(9):1810-1818. doi: 10.1002/ajmg.a.40352. Epub 2018 Aug 2.


Superficial and Fundamental Correspondences in the Terahertz/IR (6-15 THz) Absorption Spectra of Aspirin and Benzoic Acid.

Lepodise LM, Horvat J, Lewis RA.

J Phys Chem A. 2018 Aug 30;122(34):6886-6893. doi: 10.1021/acs.jpca.8b05393. Epub 2018 Aug 17.


July consultation #6.

Lee SH, Lewis RA.

J Cataract Refract Surg. 2018 Jul;44(7):920. doi: 10.1016/j.jcrs.2018.06.037. No abstract available.


Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma.

Machol K, Jankovic J, Vijayakumar D, Burrage LC, Jain M, Lewis RA, Fuller GN, Xu M, Penas-Prado M, Gule-Monroe MK, Rosenfeld JA, Chen R, Eng CM, Yang Y, Lee BH, Moretti PM; Undiagnosed Diseases Network, Dhar SU.

Neurol Genet. 2018 Jul 20;4(4):e248. doi: 10.1212/NXG.0000000000000248. eCollection 2018 Aug. No abstract available.


Correction: Screening and purification of natural products from actinomycetes that affect the cell shape of fission yeast (doi:10.1242/jcs.194571).

Lewis RA, Li J, Allenby NEE, Errington J, Hayle J, Nurse P.

J Cell Sci. 2018 Jul 4;131(13). pii: jcs221580. doi: 10.1242/jcs.221580. No abstract available.


Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.

Poli MC, Ebstein F, Nicholas SK, de Guzman MM, Forbes LR, Chinn IK, Mace EM, Vogel TP, Carisey AF, Benavides F, Coban-Akdemir ZH, Gibbs RA, Jhangiani SN, Muzny DM, Carvalho CMB, Schady DA, Jain M, Rosenfeld JA, Emrick L, Lewis RA, Lee B; Undiagnosed Diseases Network members, Zieba BA, Küry S, Krüger E, Lupski JR, Bostwick BL, Orange JS.

Am J Hum Genet. 2018 Jun 7;102(6):1126-1142. doi: 10.1016/j.ajhg.2018.04.010. Epub 2018 May 24.


Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN.

Magoulas PL, Shchelochkov OA, Bainbridge MN, Ben-Shachar S, Yatsenko S, Potocki L, Lewis RA, Searby C, Marcogliese AN, Elghetany MT, Zapata G, Hernández PP, Gadkari M, Einhaus D, Muzny DM, Gibbs RA, Bertuch AA, Scott DA, Corvera S, Franco LM.

Blood. 2018 Aug 9;132(6):658-662. doi: 10.1182/blood-2017-12-824433. Epub 2018 May 21. No abstract available.


Chiral Cliffs: Investigating the Influence of Chirality on Binding Affinity.

Schneider N, Lewis RA, Fechner N, Ertl P.

ChemMedChem. 2018 Jul 6;13(13):1315-1324. doi: 10.1002/cmdc.201700798. Epub 2018 Jun 11.


Electrophysiologic lessons from the European multicenter study of Guillain-Barré syndrome subtype diagnosis.

Lewis RA.

Muscle Nerve. 2018 Mar 10. doi: 10.1002/mus.26122. [Epub ahead of print] No abstract available.



Grover DS, Flynn WJ, Bashford KP, Lewis RA, Duh YJ, Nangia RS, Niksch B.

Am J Ophthalmol. 2018 Apr;188:186-187. doi: 10.1016/j.ajo.2018.01.032. Epub 2018 Feb 17. No abstract available.



Allen JA, Lewis RA.

Muscle Nerve. 2018 May;57(5):E132-E133. doi: 10.1002/mus.26090. Epub 2018 Mar 1. No abstract available.


Structural characterization of two solvates of a luminescent copper(II) bis-(pyridine)-substituted benzimidazole complex.

Geiger DK, DeStefano MR, Lewis RA.

Acta Crystallogr E Crystallogr Commun. 2017 Oct 6;73(Pt 11):1616-1621. doi: 10.1107/S2056989017014232. eCollection 2017 Nov 1.


Subcutaneous immunoglobulin for maintenance treatment in chronic inflammatory demyelinating polyneuropathy (PATH): a randomised, double-blind, placebo-controlled, phase 3 trial.

van Schaik IN, Bril V, van Geloven N, Hartung HP, Lewis RA, Sobue G, Lawo JP, Praus M, Mielke O, Durn BL, Cornblath DR, Merkies ISJ; PATH study group.

Lancet Neurol. 2018 Jan;17(1):35-46. doi: 10.1016/S1474-4422(17)30378-2. Epub 2017 Nov 6. Erratum in: Lancet Neurol. 2018 Jan;17 (1):26. Erratum in: Lancet Neurol. 2018 Aug;17(8):661.


Electrodiagnostic errors contribute to chronic inflammatory demyelinating polyneuropathy misdiagnosis.

Allen JA, Ney J, Lewis RA.

Muscle Nerve. 2018 Apr;57(4):542-549. doi: 10.1002/mus.25997. Epub 2017 Nov 27.


Displacement sensing using the relaxation oscillation frequency of a laser diode with optical feedback.

Liu B, Yu Y, Xi J, Guo Q, Tong J, Lewis RA.

Appl Opt. 2017 Aug 20;56(24):6962-6966. doi: 10.1364/AO.56.006962.


A new functional method to choose the target lobe for lung volume reduction in emphysema - comparison with the conventional densitometric method.

Hetzel J, Boeckeler M, Horger M, Ehab A, Kloth C, Wagner R, Freitag L, Slebos DJ, Lewis RA, Haentschel M.

Int J Chron Obstruct Pulmon Dis. 2017 Aug 30;12:2621-2628. doi: 10.2147/COPD.S139304. eCollection 2017.


Performance and Safety of a New Ab Interno Gelatin Stent in Refractory Glaucoma at 12 Months.

Grover DS, Flynn WJ, Bashford KP, Lewis RA, Duh YJ, Nangia RS, Niksch B.

Am J Ophthalmol. 2017 Nov;183:25-36. doi: 10.1016/j.ajo.2017.07.023. Epub 2017 Aug 5.


CORRIGENDUM: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.

Chen CA, Bosch DGM, Cho ScM MT, Rosenfeld JA, Shinawi M, Lewis RA, Mann J, Jayakar P, Payne K, Walsh L, Moss T, Schreiber A, Schoonveld C, Monaghan KG, Elmslie F, Douglas G, Boonstra FN, Millan F, Cremers FPM, McKnight D, Richard G, Juusola J, Kendall F, Ramsey K, Anyane-Yeboa K, Malkin E, Chung WK, Niyazov D, Pascual JM, Walkiewicz M, Veluchamy V, Li C, Hisama FM, de Vries BBA, Schaaf C.

Genet Med. 2017 Aug;19(8):962. doi: 10.1038/gim.2017.12.


Screening and purification of natural products from actinomycetes that affect the cell shape of fission yeast.

Lewis RA, Li J, Allenby NEE, Errington J, Hayles J, Nurse P.

J Cell Sci. 2017 Sep 15;130(18):3173-3185. doi: 10.1242/jcs.194571. Epub 2017 Aug 3. Erratum in: J Cell Sci. 2018 Jul 4;131(13):.


Elevated airway liquid volumes at birth: a potential cause of transient tachypnea of the newborn.

McGillick EV, Lee K, Yamaoka S, Te Pas AB, Crossley KJ, Wallace MJ, Kitchen MJ, Lewis RA, Kerr LT, DeKoninck P, Dekker J, Thio M, McDougall ARA, Hooper SB.

J Appl Physiol (1985). 2017 Nov 1;123(5):1204-1213. doi: 10.1152/japplphysiol.00464.2017. Epub 2017 Aug 3.


Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1).

Panosyan FB, Laura M, Rossor AM, Pisciotta C, Piscosquito G, Burns J, Li J, Yum SW, Lewis RA, Day J, Horvath R, Herrmann DN, Shy ME, Pareyson D, Reilly MM, Scherer SS; Inherited Neuropathies Consortium—Rare Diseases Clinical Research Network (INC-RDCRN).

Neurology. 2017 Aug 29;89(9):927-935. doi: 10.1212/WNL.0000000000004296. Epub 2017 Aug 2.


The phenotypic variability of HK1-associated retinal dystrophy.

Yuan Z, Li B, Xu M, Chang EY, Li H, Yang L, Wu S, Soens ZT, Li Y, Wong LC, Lewis RA, Sui R, Chen R.

Sci Rep. 2017 Aug 1;7(1):7051. doi: 10.1038/s41598-017-07629-3.


Chronic inflammatory demyelinating polyneuropathy.

Lewis RA.

Curr Opin Neurol. 2017 Oct;30(5):508-512. doi: 10.1097/WCO.0000000000000481. Review.


Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.

Luo X, Rosenfeld JA, Yamamoto S, Harel T, Zuo Z, Hall M, Wierenga KJ, Pastore MT, Bartholomew D, Delgado MR, Rotenberg J, Lewis RA, Emrick L, Bacino CA, Eldomery MK, Coban Akdemir Z, Xia F, Yang Y, Lalani SR, Lotze T, Lupski JR, Lee B, Bellen HJ, Wangler MF; Members of the UDN.

PLoS Genet. 2017 Jul 24;13(7):e1006905. doi: 10.1371/journal.pgen.1006905. eCollection 2017 Jul.


Prevalence and orthopedic management of foot and ankle deformities in Charcot-Marie-Tooth disease.

Laurá M, Singh D, Ramdharry G, Morrow J, Skorupinska M, Pareyson D, Burns J, Lewis RA, Scherer SS, Herrmann DN, Cullen N, Bradish C, Gaiani L, Martinelli N, Gibbons P, Pfeffer G, Phisitkul P, Wapner K, Sanders J, Flemister S, Shy ME, Reilly MM; Inherited Neuropathies Consortium.

Muscle Nerve. 2018 Feb;57(2):255-259. doi: 10.1002/mus.25724. Epub 2017 Jul 7.


Genetic causes of optic nerve hypoplasia.

Chen CA, Yin J, Lewis RA, Schaaf CP.

J Med Genet. 2017 Jul;54(7):441-449. doi: 10.1136/jmedgenet-2017-104626. Epub 2017 May 13. Review.


Distinguishing Quinacridone Pigments via Terahertz Spectroscopy: Absorption Experiments and Solid-State Density Functional Theory Simulations.

Squires AD, Lewis RA, Zaczek AJ, Korter TM.

J Phys Chem A. 2017 May 11;121(18):3423-3429. doi: 10.1021/acs.jpca.7b01582. Epub 2017 Apr 26.


Head drop in Parkinson's disease complicated by myasthenia gravis and myopathy.

Hogg EJ, Lewis RA, Bannykh S, Tagliati M.

J Neurol Sci. 2017 May 15;376:216-218. doi: 10.1016/j.jns.2017.03.026. Epub 2017 Mar 18. No abstract available.


Independent variant analysis of TEAD1 and OCEL1 in 38 Aicardi syndrome patients.

Wong BK, Sutton VR, Lewis RA, Van den Veyver IB.

Mol Genet Genomic Med. 2017 Jan 25;5(2):117-121. doi: 10.1002/mgg3.250. eCollection 2017 Mar.


Lessons learned from additional research analyses of unsolved clinical exome cases.

Eldomery MK, Coban-Akdemir Z, Harel T, Rosenfeld JA, Gambin T, Stray-Pedersen A, Küry S, Mercier S, Lessel D, Denecke J, Wiszniewski W, Penney S, Liu P, Bi W, Lalani SR, Schaaf CP, Wangler MF, Bacino CA, Lewis RA, Potocki L, Graham BH, Belmont JW, Scaglia F, Orange JS, Jhangiani SN, Chiang T, Doddapaneni H, Hu J, Muzny DM, Xia F, Beaudet AL, Boerwinkle E, Eng CM, Plon SE, Sutton VR, Gibbs RA, Posey JE, Yang Y, Lupski JR.

Genome Med. 2017 Mar 21;9(1):26. doi: 10.1186/s13073-017-0412-6.


An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation.

Patel RM, Liu D, Gonzaga-Jauregui C, Jhangiani S, Lu JT, Sutton VR, Fernbach SD, Azamian M, White L, Edmond JC, Paysse EA, Belmont JW, Muzny D, Lupski JR, Gibbs RA, Lewis RA, Lee BH, Lalani SR, Campeau PM.

Cold Spring Harb Mol Case Stud. 2017 Mar;3(2):a000984. doi: 10.1101/mcs.a000984.


Collaborating to improve the use of free-energy and other quantitative methods in drug discovery.

Sherborne B, Shanmugasundaram V, Cheng AC, Christ CD, DesJarlais RL, Duca JS, Lewis RA, Loughney DA, Manas ES, McGaughey GB, Peishoff CE, van Vlijmen H.

J Comput Aided Mol Des. 2016 Dec;30(12):1139-1141. doi: 10.1007/s10822-016-9996-y. Epub 2016 Dec 24.


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