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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. 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.


Bimatoprost Sustained-Release Implants for Glaucoma Therapy: 6-Month Results From a Phase I/II Clinical Trial.

Lewis RA, Christie WC, Day DG, Craven ER, Walters T, Bejanian M, Lee SS, Goodkin ML, Zhang J, Whitcup SM, Robinson MR; Bimatoprost SR Study Group.

Am J Ophthalmol. 2017 Mar;175:137-147. doi: 10.1016/j.ajo.2016.11.020. Epub 2016 Dec 22.


C-H and C-N Activation at Redox-Active Pyridine Complexes of Iron.

MacLeod KC, Lewis RA, DeRosha DE, Mercado BQ, Holland PL.

Angew Chem Int Ed Engl. 2017 Jan 19;56(4):1069-1072. doi: 10.1002/anie.201610679. Epub 2016 Dec 21.


Vagal denervation inhibits the increase in pulmonary blood flow during partial lung aeration at birth.

Lang JA, Pearson JT, Binder-Heschl C, Wallace MJ, Siew ML, Kitchen MJ, Te Pas AB, Lewis RA, Polglase GR, Shirai M, Hooper SB.

J Physiol. 2017 Mar 1;595(5):1593-1606. doi: 10.1113/JP273682. Epub 2017 Feb 14.


Gastrointestinal and Urologic Sphincter Dysfunction in Stiff Person Syndrome.

Dumitrascu OM, Tsimerinov EI, Lewis RA.

J Clin Neuromuscul Dis. 2016 Dec;18(2):92-95.


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

Chen CA, Bosch DG, Cho 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 FP, 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 BB, Schaaf C.

Genet Med. 2016 Nov;18(11):1143-1150. doi: 10.1038/gim.2016.18. Epub 2016 Mar 17. Erratum in: Genet Med. 2017 Aug;19(8):962.


Retinal Diseases Caused by Mutations in Genes Not Specifically Associated with the Clinical Diagnosis.

Wang X, Feng Y, Li J, Zhang W, Wang J, Lewis RA, Wong LJ.

PLoS One. 2016 Oct 27;11(10):e0165405. doi: 10.1371/journal.pone.0165405. eCollection 2016.


Improved Diagnosis of Inherited Retinal Dystrophies by High-Fidelity PCR of ORF15 followed by Next-Generation Sequencing.

Li J, Tang J, Feng Y, Xu M, Chen R, Zou X, Sui R, Chang EY, Lewis RA, Zhang VW, Wang J, Wong LC.

J Mol Diagn. 2016 Nov;18(6):817-824. doi: 10.1016/j.jmoldx.2016.06.007. Epub 2016 Sep 10.


Diaphragmatic pacing in amyotrophic lateral sclerosis.

Lewis RA.

Lancet Neurol. 2016 Nov;15(12):1196-1197. doi: 10.1016/S1474-4422(16)30259-9. Epub 2016 Oct 11. No abstract available.


Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.

Bekheirnia MR, Bekheirnia N, Bainbridge MN, Gu S, Coban Akdemir ZH, Gambin T, Janzen NK, Jhangiani SN, Muzny DM, Michael M, Brewer ED, Elenberg E, Kale AS, Riley AA, Swartz SJ, Scott DA, Yang Y, Srivaths PR, Wenderfer SE, Bodurtha J, Applegate CD, Velinov M, Myers A, Borovik L, Craigen WJ, Hanchard NA, Rosenfeld JA, Lewis RA, Gonzales ET, Gibbs RA, Belmont JW, Roth DR, Eng C, Braun MC, Lupski JR, Lamb DJ.

Genet Med. 2017 Apr;19(4):412-420. doi: 10.1038/gim.2016.131. Epub 2016 Sep 22.


Features of a Self-Mixing Laser Diode Operating Near Relaxation Oscillation.

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

Sensors (Basel). 2016 Sep 21;16(9). pii: E1546.


Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.

Harel T, Yoon WH, Garone C, Gu S, Coban-Akdemir Z, Eldomery MK, Posey JE, Jhangiani SN, Rosenfeld JA, Cho MT, Fox S, Withers M, Brooks SM, Chiang T, Duraine L, Erdin S, Yuan B, Shao Y, Moussallem E, Lamperti C, Donati MA, Smith JD, McLaughlin HM, Eng CM, Walkiewicz M, Xia F, Pippucci T, Magini P, Seri M, Zeviani M, Hirano M, Hunter JV, Srour M, Zanigni S, Lewis RA, Muzny DM, Lotze TE, Boerwinkle E; Baylor-Hopkins Center for Mendelian Genomics; University of Washington Center for Mendelian Genomics, Gibbs RA, Hickey SE, Graham BH, Yang Y, Buhas D, Martin DM, Potocki L, Graziano C, Bellen HJ, Lupski JR.

Am J Hum Genet. 2016 Oct 6;99(4):831-845. doi: 10.1016/j.ajhg.2016.08.007. Epub 2016 Sep 15.


GNAI3: Another Candidate Gene to Screen in Persons with Ocular Albinism.

Young A, Dandekar U, Pan C, Sader A, Zheng JJ, Lewis RA, Farber DB.

PLoS One. 2016 Sep 8;11(9):e0162273. doi: 10.1371/journal.pone.0162273. eCollection 2016.


Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.

Lindstrand A, Frangakis S, Carvalho CM, Richardson EB, McFadden KA, Willer JR, Pehlivan D, Liu P, Pediaditakis IL, Sabo A, Lewis RA, Banin E, Lupski JR, Davis EE, Katsanis N.

Am J Hum Genet. 2016 Aug 4;99(2):318-36. doi: 10.1016/j.ajhg.2015.04.023.


Subcutaneous immunoglobulin for maintenance treatment in chronic inflammatory demyelinating polyneuropathy (The PATH Study): study protocol for a randomized controlled trial.

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

Trials. 2016 Jul 25;17(1):345. doi: 10.1186/s13063-016-1466-2.


Effect of betamethasone, surfactant, and positive end-expiratory pressures on lung aeration at birth in preterm rabbits.

Crawshaw JR, Hooper SB, Te Pas AB, Allison BA, Wallace MJ, Kerr LT, Lewis RA, Morley CJ, Leong AF, Kitchen MJ.

J Appl Physiol (1985). 2016 Sep 1;121(3):750-759. doi: 10.1152/japplphysiol.01043.2015. Epub 2016 Jul 8.


Surface effects of vapour-liquid-solid driven Bi surface droplets formed during molecular-beam-epitaxy of GaAsBi.

Steele JA, Lewis RA, Horvat J, Nancarrow MJ, Henini M, Fan D, Mazur YI, Schmidbauer M, Ware ME, Yu SQ, Salamo GJ.

Sci Rep. 2016 Jul 5;6:28860. doi: 10.1038/srep28860.


Diaphragm pacing in patients with amyotrophic lateral sclerosis.

Miller RG, Lewis RA.

Lancet Neurol. 2016 May;15(6):542. doi: 10.1016/S1474-4422(16)30012-6. Epub 2016 Apr 11. No abstract available.


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