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Panel sequencing distinguishes monogenic forms of nephritis from nephrosis in children.

Schapiro D, Daga A, Lawson JA, Majmundar AJ, Lovric S, Tan W, Warejko JK, Fessi I, Rao J, Airik M, Gee HY, Schneider R, Widmeier E, Hermle T, Ashraf S, Jobst-Schwan T, van der Ven AT, Nakayama M, Shril S, Braun DA, Hildebrandt F.

Nephrol Dial Transplant. 2018 Mar 21. doi: 10.1093/ndt/gfy050. [Epub ahead of print]


Measuring Health-Related Quality of Life in Tuberous Sclerosis Complex - Psychometric Evaluation of Three Instruments in Individuals With Refractory Epilepsy.

de Vries PJ, Franz DN, Curatolo P, Nabbout R, Neary M, Herbst F, Sully K, Brohan E, Bennett B, Lawson JA.

Front Pharmacol. 2018 Aug 30;9:964. doi: 10.3389/fphar.2018.00964. eCollection 2018.


TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study.

de Vries PJ, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, Dahlin M, D'Amato L, d'Augères GB, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jozwiak S, Kingswood JC, Lawson JA, Macaya A, Marques R, Nabbout R, O'Callaghan F, Qin J, Sander V, Sauter M, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Jansen AC; TOSCA Consortium and TOSCA Investigators.

Orphanet J Rare Dis. 2018 Sep 10;13(1):157. doi: 10.1186/s13023-018-0901-8.


Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome.

Braun DA, Lovric S, Schapiro D, Schneider R, Marquez J, Asif M, Hussain MS, Daga A, Widmeier E, Rao J, Ashraf S, Tan W, Lusk CP, Kolb A, Jobst-Schwan T, Schmidt JM, Hoogstraten CA, Eddy K, Kitzler TM, Shril S, Moawia A, Schrage K, Khayyat AIA, Lawson JA, Gee HY, Warejko JK, Hermle T, Majmundar AJ, Hugo H, Budde B, Motameny S, Altmüller J, Noegel AA, Fathy HM, Gale DP, Waseem SS, Khan A, Kerecuk L, Hashmi S, Mohebbi N, Ettenger R, Serdaroğlu E, Alhasan KA, Hashem M, Goncalves S, Ariceta G, Ubetagoyena M, Antonin W, Baig SM, Alkuraya FS, Shen Q, Xu H, Antignac C, Lifton RP, Mane S, Nürnberg P, Khokha MK, Hildebrandt F.

J Clin Invest. 2018 Oct 1;128(10):4313-4328. doi: 10.1172/JCI98688. Epub 2018 Sep 4.


Adjunctive everolimus for children and adolescents with treatment-refractory seizures associated with tuberous sclerosis complex: post-hoc analysis of the phase 3 EXIST-3 trial.

Curatolo P, Franz DN, Lawson JA, Yapici Z, Ikeda H, Polster T, Nabbout R, de Vries PJ, Dlugos DJ, Fan J, Ridolfi A, Pelov D, Voi M, French JA.

Lancet Child Adolesc Health. 2018 Jul;2(7):495-504. doi: 10.1016/S2352-4642(18)30099-3. Epub 2018 May 24.


Cannabidiol for treating drug-resistant epilepsy in children: the New South Wales experience.

Chen KA, Farrar M, Cardamone M, Gill D, Smith R, Cowell CT, Truong L, Lawson JA.

Med J Aust. 2018 Aug 3;209(5):217-221. Epub 2018 Aug 13.


Therapeutic use of medicinal cannabis in difficult to manage epilepsy.

Lawson JA, Scheffer IE.

Br J Clin Pharmacol. 2018 Nov;84(11):2488-2490. doi: 10.1111/bcp.13711. Epub 2018 Sep 5. Review. No abstract available.


Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment.

Ashraf S, Kudo H, Rao J, Kikuchi A, Widmeier E, Lawson JA, Tan W, Hermle T, Warejko JK, Shril S, Airik M, Jobst-Schwan T, Lovric S, Braun DA, Gee HY, Schapiro D, Majmundar AJ, Sadowski CE, Pabst WL, Daga A, van der Ven AT, Schmidt JM, Low BC, Gupta AB, Tripathi BK, Wong J, Campbell K, Metcalfe K, Schanze D, Niihori T, Kaito H, Nozu K, Tsukaguchi H, Tanaka R, Hamahira K, Kobayashi Y, Takizawa T, Funayama R, Nakayama K, Aoki Y, Kumagai N, Iijima K, Fehrenbach H, Kari JA, El Desoky S, Jalalah S, Bogdanovic R, Stajić N, Zappel H, Rakhmetova A, Wassmer SR, Jungraithmayr T, Strehlau J, Kumar AS, Bagga A, Soliman NA, Mane SM, Kaufman L, Lowy DR, Jairajpuri MA, Lifton RP, Pei Y, Zenker M, Kure S, Hildebrandt F.

Nat Commun. 2018 May 17;9(1):1960. doi: 10.1038/s41467-018-04193-w.


Everolimus dosing recommendations for tuberous sclerosis complex-associated refractory seizures.

Franz DN, Lawson JA, Yapici Z, Brandt C, Kohrman MH, Wong M, Milh M, Wiemer-Kruel A, Voi M, Coello N, Cheung W, Grosch K, French JA.

Epilepsia. 2018 Jun;59(6):1188-1197. doi: 10.1111/epi.14085. Epub 2018 May 4.


The association between endotoxin and beta-(1 → 3)-D-glucan in house dust with asthma severity among schoolchildren.

Oluwole O, Rennie DC, Senthilselvan A, Dyck R, Afanasieva A, Kirychuk S, Katselis G, Lawson JA.

Respir Med. 2018 May;138:38-46. doi: 10.1016/j.rmed.2018.03.015. Epub 2018 Mar 15.


Outcomes of deviation from treatment guidelines in status epilepticus: A systematic review.

Uppal P, Cardamone M, Lawson JA.

Seizure. 2018 May;58:147-153. doi: 10.1016/j.seizure.2018.04.005. Epub 2018 Apr 16. Review.


Renal angiomyolipoma in patients with tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increase disease Awareness.

Kingswood JC, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, Dahlin M, D' Amato L, d'Augères GB, de Vries PJ, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jozwiak S, Lawson JA, Macaya A, Marques R, Nabbout R, O'Callaghan F, Qin J, Sander V, Sauter M, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Jansen AC; TOSCA Consortium and TOSCA Investigators.

Nephrol Dial Transplant. 2018 Apr 25. doi: 10.1093/ndt/gfy063. [Epub ahead of print]


Eight-year follow-up of a randomized clinical trial comparing ultrasound-guided foam sclerotherapy with surgical stripping of the great saphenous vein.

Lam YL, Lawson JA, Toonder IM, Shadid NH, Sommer A, Veenstra M, van der Kleij AMJ, Ceulen RP, de Haan E, Ibrahim F, van Dooren T, Nieman FH, Wittens CHA.

Br J Surg. 2018 May;105(6):692-698. doi: 10.1002/bjs.10762.


An international comparison of risk factors between two regions with distinct differences in asthma prevalence.

Madani K, Vlaski E, Rennie DC, Sears M, Lawson JA.

Allergol Immunopathol (Madr). 2018 Jul - Aug;46(4):341-353. doi: 10.1016/j.aller.2018.01.002. Epub 2018 Mar 24.


The association between endotoxin in house dust with atopy and exercise-induced bronchospasm in children with asthma.

Oluwole O, Rennie DC, Senthilselvan A, Dyck R, Afanasieva A, Kirychuk S, Katselis G, Lawson JA.

Environ Res. 2018 Jul;164:302-309. doi: 10.1016/j.envres.2018.03.012. Epub 2018 Mar 20.


Whole Exome Sequencing Reveals a Monogenic Cause of Disease in ≈43% of 35 Families With Midaortic Syndrome.

Warejko JK, Schueler M, Vivante A, Tan W, Daga A, Lawson JA, Braun DA, Shril S, Amann K, Somers MJG, Rodig NM, Baum MA, Daouk G, Traum AZ, Kim HB, Vakili K, Porras D, Lock J, Rivkin MJ, Chaudry G, Smoot LB, Singh MN, Smith ER, Mane SM, Lifton RP, Stein DR, Ferguson MA, Hildebrandt F.

Hypertension. 2018 Apr;71(4):691-699. doi: 10.1161/HYPERTENSIONAHA.117.10296. Epub 2018 Feb 26.


Cannabis for paediatric epilepsy: challenges and conundrums.

Chen KA, Farrar MA, Cardamone M, Lawson JA.

Med J Aust. 2018 Feb 19;208(3):132-136.


Asthma diagnosis among children along an urban-rural gradient.

Oluwole O, Rennie DC, Senthilselvan A, Dyck R, Afanasieva A, Adamko DJ, Lawson JA.

J Asthma. 2018 Feb 8:1-11. doi: 10.1080/02770903.2017.1407335. [Epub ahead of print]


Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness.

Palmer EE, Schofield D, Shrestha R, Kandula T, Macintosh R, Lawson JA, Andrews I, Sampaio H, Johnson AM, Farrar MA, Cardamone M, Mowat D, Elakis G, Lo W, Zhu Y, Ying K, Morris P, Tao J, Dias KR, Buckley M, Dinger ME, Cowley MJ, Roscioli T, Kirk EP, Bye A, Sachdev RK.

Mol Genet Genomic Med. 2018 Mar;6(2):186-199. doi: 10.1002/mgg3.355. Epub 2018 Jan 4.


Prospective comparative cohort study evaluating incompetent great saphenous vein closure using radiofrequency-powered segmental ablation or 1470-nm endovenous laser ablation with radial-tip fibers (Varico 2 study).

Lawson JA, Gauw SA, van Vlijmen CJ, Pronk P, Gaastra MTW, Tangelder MJ, Mooij MC.

J Vasc Surg Venous Lymphat Disord. 2018 Jan;6(1):31-40. doi: 10.1016/j.jvsv.2017.06.016. Epub 2017 Aug 24.


The natural history of subependymal giant cell astrocytomas in tuberous sclerosis complex: a review.

Chan DL, Calder T, Lawson JA, Mowat D, Kennedy SE.

Rev Neurosci. 2018 Mar 28;29(3):295-301. doi: 10.1515/revneuro-2017-0027. Review.


Bronchitis and Its Associated Risk Factors in First Nations Children.

Karunanayake CP, Rennie DC, Ramsden VR, Fenton M, Kirychuk S, Lawson JA, Henderson R, Jimmy L, Seeseequasis J, Abonyi S, Dosman JA, Pahwa P; The First Nations Lung Health Project Research Team.

Children (Basel). 2017 Nov 24;4(12). pii: E103. doi: 10.3390/children4120103.


An international comparison of asthma, wheeze, and breathing medication use among children.

Lawson JA, Brozek G, Shpakou A, Fedortsiv O, Vlaski E, Beridze V, Rennie DC, Afanasieva A, Beridze S, Zejda J.

Respir Med. 2017 Dec;133:22-28. doi: 10.1016/j.rmed.2017.11.001. Epub 2017 Nov 3.


Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome.

Warejko JK, Tan W, Daga A, Schapiro D, Lawson JA, Shril S, Lovric S, Ashraf S, Rao J, Hermle T, Jobst-Schwan T, Widmeier E, Majmundar AJ, Schneider R, Gee HY, Schmidt JM, Vivante A, van der Ven AT, Ityel H, Chen J, Sadowski CE, Kohl S, Pabst WL, Nakayama M, Somers MJG, Rodig NM, Daouk G, Baum M, Stein DR, Ferguson MA, Traum AZ, Soliman NA, Kari JA, El Desoky S, Fathy H, Zenker M, Bakkaloglu SA, Müller D, Noyan A, Ozaltin F, Cadnapaphornchai MA, Hashmi S, Hopcian J, Kopp JB, Benador N, Bockenhauer D, Bogdanovic R, Stajić N, Chernin G, Ettenger R, Fehrenbach H, Kemper M, Munarriz RL, Podracka L, Büscher R, Serdaroglu E, Tasic V, Mane S, Lifton RP, Braun DA, Hildebrandt F.

Clin J Am Soc Nephrol. 2018 Jan 6;13(1):53-62. doi: 10.2215/CJN.04120417. Epub 2017 Nov 10.


Profile of a national sample of Canadian children with participation and activity limitations.

Lawson JA, Goodridge D, Rennie DC, Zhao G, Marciniuk DD.

J Child Health Care. 2017 Jun;21(2):201-211. doi: 10.1177/1367493517702527. Epub 2017 Apr 18.


Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.

Daga A, Majmundar AJ, Braun DA, Gee HY, Lawson JA, Shril S, Jobst-Schwan T, Vivante A, Schapiro D, Tan W, Warejko JK, Widmeier E, Nelson CP, Fathy HM, Gucev Z, Soliman NA, Hashmi S, Halbritter J, Halty M, Kari JA, El-Desoky S, Ferguson MA, Somers MJG, Traum AZ, Stein DR, Daouk GH, Rodig NM, Katz A, Hanna C, Schwaderer AL, Sayer JA, Wassner AJ, Mane S, Lifton RP, Milosevic D, Tasic V, Baum MA, Hildebrandt F.

Kidney Int. 2018 Jan;93(1):204-213. doi: 10.1016/j.kint.2017.06.025. Epub 2017 Oct 12.


Early Detection of Tuberous Sclerosis Complex: An Opportunity for Improved Neurodevelopmental Outcome.

Chung CWT, Lawson JA, Sarkozy V, Riney K, Wargon O, Shand AW, Cooper S, King H, Kennedy SE, Mowat D.

Pediatr Neurol. 2017 Nov;76:20-26. doi: 10.1016/j.pediatrneurol.2017.05.014. Epub 2017 May 26.


Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W, Gribouval O, Boyer O, Revy P, Jobst-Schwan T, Schmidt JM, Lawson JA, Schanze D, Ashraf S, Ullmann JFP, Hoogstraten CA, Boddaert N, Collinet B, Martin G, Liger D, Lovric S, Furlano M, Guerrera IC, Sanchez-Ferras O, Hu JF, Boschat AC, Sanquer S, Menten B, Vergult S, De Rocker N, Airik M, Hermle T, Shril S, Widmeier E, Gee HY, Choi WI, Sadowski CE, Pabst WL, Warejko JK, Daga A, Basta T, Matejas V, Scharmann K, Kienast SD, Behnam B, Beeson B, Begtrup A, Bruce M, Ch'ng GS, Lin SP, Chang JH, Chen CH, Cho MT, Gaffney PM, Gipson PE, Hsu CH, Kari JA, Ke YY, Kiraly-Borri C, Lai WM, Lemyre E, Littlejohn RO, Masri A, Moghtaderi M, Nakamura K, Ozaltin F, Praet M, Prasad C, Prytula A, Roeder ER, Rump P, Schnur RE, Shiihara T, Sinha MD, Soliman NA, Soulami K, Sweetser DA, Tsai WH, Tsai JD, Topaloglu R, Vester U, Viskochil DH, Vatanavicharn N, Waxler JL, Wierenga KJ, Wolf MTF, Wong SN, Leidel SA, Truglio G, Dedon PC, Poduri A, Mane S, Lifton RP, Bouchard M, Kannu P, Chitayat D, Magen D, Callewaert B, van Tilbeurgh H, Zenker M, Antignac C, Hildebrandt F.

Nat Genet. 2017 Oct;49(10):1529-1538. doi: 10.1038/ng.3933. Epub 2017 Aug 14.


DNM1 encephalopathy: A new disease of vesicle fission.

von Spiczak S, Helbig KL, Shinde DN, Huether R, Pendziwiat M, Lourenço C, Nunes ME, Sarco DP, Kaplan RA, Dlugos DJ, Kirsch H, Slavotinek A, Cilio MR, Cervenka MC, Cohen JS, McClellan R, Fatemi A, Yuen A, Sagawa Y, Littlejohn R, McLean SD, Hernandez-Hernandez L, Maher B, Møller RS, Palmer E, Lawson JA, Campbell CA, Joshi CN, Kolbe DL, Hollingsworth G, Neubauer BA, Muhle H, Stephani U, Scheffer IE, Pena SDJ, Sisodiya SM, Helbig I; Epi4K Consortium; EuroEPINOMICS-RES NLES Working Group.

Neurology. 2017 Jul 25;89(4):385-394. doi: 10.1212/WNL.0000000000004152. Epub 2017 Jun 30.


Prevalence and associated risk factors of chronic bronchitis in First Nations people.

Pahwa P, Karunanayake CP, Rennie DC, Lawson JA, Ramsden VR, McMullin K, Gardipy PJ, MacDonald J, Abonyi S, Episkenew JA, Dosman JA; First Nations Lung Health Project Research Team.

BMC Pulm Med. 2017 Jun 29;17(1):95. doi: 10.1186/s12890-017-0432-4.


Predictors of Physical Activity Levels in Community-Dwelling Older Adults: A Multivariate Approach Based on a Socio-Ecological Framework.

Fisher KL, Harrison EL, Bruner BG, Lawson JA, Reeder BA, Ashworth NL, Sheppard MS, Chad KE.

J Aging Phys Act. 2018 Jan 1;26(1):114-120. doi: 10.1123/japa.2016-0286. Epub 2017 Nov 30.


In Vitro and In Vivo Profile of PPL-101 and PPL-103: Mixed Opioid Partial Agonist Analgesics with Low Abuse Potential.

Khroyan TV, Cippitelli A, Toll N, Lawson JA, Crossman W, Polgar WE, Toll L.

Front Psychiatry. 2017 Apr 12;8:52. doi: 10.3389/fpsyt.2017.00052. eCollection 2017.


GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.

Platzer K, Yuan H, Schütz H, Winschel A, Chen W, Hu C, Kusumoto H, Heyne HO, Helbig KL, Tang S, Willing MC, Tinkle BT, Adams DJ, Depienne C, Keren B, Mignot C, Frengen E, Strømme P, Biskup S, Döcker D, Strom TM, Mefford HC, Myers CT, Muir AM, LaCroix A, Sadleir L, Scheffer IE, Brilstra E, van Haelst MM, van der Smagt JJ, Bok LA, Møller RS, Jensen UB, Millichap JJ, Berg AT, Goldberg EM, De Bie I, Fox S, Major P, Jones JR, Zackai EH, Abou Jamra R, Rolfs A, Leventer RJ, Lawson JA, Roscioli T, Jansen FE, Ranza E, Korff CM, Lehesjoki AE, Courage C, Linnankivi T, Smith DR, Stanley C, Mintz M, McKnight D, Decker A, Tan WH, Tarnopolsky MA, Brady LI, Wolff M, Dondit L, Pedro HF, Parisotto SE, Jones KL, Patel AD, Franz DN, Vanzo R, Marco E, Ranells JD, Di Donato N, Dobyns WB, Laube B, Traynelis SF, Lemke JR.

J Med Genet. 2017 Jul;54(7):460-470. doi: 10.1136/jmedgenet-2016-104509. Epub 2017 Apr 4.


Management Strategies for CLN2 Disease.

Williams RE, Adams HR, Blohm M, Cohen-Pfeffer JL, de Los Reyes E, Denecke J, Drago K, Fairhurst C, Frazier M, Guelbert N, Kiss S, Kofler A, Lawson JA, Lehwald L, Leung MA, Mikhaylova S, Mink JW, Nickel M, Shediac R, Sims K, Specchio N, Topcu M, von Löbbecke I, West A, Zernikow B, Schulz A.

Pediatr Neurol. 2017 Apr;69:102-112. doi: 10.1016/j.pediatrneurol.2017.01.034. Epub 2017 Feb 4. Review.


[Guideline on 'The treatment of recurrent varicose veins'Supplement to the Dutch Guideline on Venous disease].

de Roos KP, Lawson JA, Gaastra MT, Wittens CH.

Ned Tijdschr Geneeskd. 2017;161:D1139. Dutch.


Prevalence, risk factors, and clinical outcomes of atopic and nonatopic asthma among rural children.

Lawson JA, Chu LM, Rennie DC, Hagel L, Karunanayake CP, Pahwa P, Dosman JA.

Ann Allergy Asthma Immunol. 2017 Mar;118(3):304-310. doi: 10.1016/j.anai.2016.11.024. Epub 2017 Jan 10.


TuberOus SClerosis registry to increase disease Awareness (TOSCA) - baseline data on 2093 patients.

Kingswood JC, d'Augères GB, Belousova E, Ferreira JC, Carter T, Castellana R, Cottin V, Curatolo P, Dahlin M, de Vries PJ, Feucht M, Fladrowski C, Gislimberti G, Hertzberg C, Jozwiak S, Lawson JA, Macaya A, Nabbout R, O'Callaghan F, Benedik MP, Qin J, Marques R, Sander V, Sauter M, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Jansen AC; TOSCA consortium and TOSCA investigators.

Orphanet J Rare Dis. 2017 Jan 5;12(1):2. doi: 10.1186/s13023-016-0553-5.


Childhood asthma, asthma severity indicators, and related conditions along an urban-rural gradient: a cross-sectional study.

Lawson JA, Rennie DC, Cockcroft DW, Dyck R, Afanasieva A, Oluwole O, Afsana J.

BMC Pulm Med. 2017 Jan 5;17(1):4. doi: 10.1186/s12890-016-0355-5.


Adjunctive everolimus therapy for treatment-resistant focal-onset seizures associated with tuberous sclerosis (EXIST-3): a phase 3, randomised, double-blind, placebo-controlled study.

French JA, Lawson JA, Yapici Z, Ikeda H, Polster T, Nabbout R, Curatolo P, de Vries PJ, Dlugos DJ, Berkowitz N, Voi M, Peyrard S, Pelov D, Franz DN.

Lancet. 2016 Oct 29;388(10056):2153-2163. doi: 10.1016/S0140-6736(16)31419-2. Epub 2016 Sep 6.


A broad-spectrum lipidomics screen of antiinflammatory drug combinations in human blood.

Mazaleuskaya LL, Lawson JA, Li X, Grant G, Mesaros C, Grosser T, Blair IA, Ricciotti E, FitzGerald GA.

JCI Insight. 2016 Aug 4;1(12). pii: e87031.


Actual Body Weight and the Parent's Perspective of Child's Body Weight among Rural Canadian Children.

Karunanayake CP, Rennie DC, Hildebrand C, Lawson JA, Hagel L, Dosman JA, Pahwa P; The Saskatchewan Rural Health Study Team.

Children (Basel). 2016 Aug 4;3(3). pii: E13. doi: 10.3390/children3030013.


Tuberous Sclerosis Complex Associated with Vascular Anomalies or Overgrowth.

Jenkins D, McCuaig C, Drolet BA, Siegel D, Adams S, Lawson JA, Wargon O.

Pediatr Dermatol. 2016 Sep;33(5):536-42. doi: 10.1111/pde.12946. Epub 2016 Jul 28. Review.


Mutations in SLC26A1 Cause Nephrolithiasis.

Gee HY, Jun I, Braun DA, Lawson JA, Halbritter J, Shril S, Nelson CP, Tan W, Stein D, Wassner AJ, Ferguson MA, Gucev Z, Sayer JA, Milosevic D, Baum M, Tasic V, Lee MG, Hildebrandt F.

Am J Hum Genet. 2016 Jun 2;98(6):1228-1234. doi: 10.1016/j.ajhg.2016.03.026. Epub 2016 May 19.


Indoor mold levels and current asthma among school-aged children in Saskatchewan, Canada.

Oluwole O, Kirychuk SP, Lawson JA, Karunanayake C, Cockcroft DW, Willson PJ, Senthilselvan A, Rennie DC.

Indoor Air. 2017 Mar;27(2):311-319. doi: 10.1111/ina.12304. Epub 2016 May 27.


Phenotypic insights into ADCY5-associated disease.

Chang FC, Westenberger A, Dale RC, Smith M, Pall HS, Perez-Dueñas B, Grattan-Smith P, Ouvrier RA, Mahant N, Hanna BC, Hunter M, Lawson JA, Max C, Sachdev R, Meyer E, Crimmins D, Pryor D, Morris JG, Münchau A, Grozeva D, Carss KJ, Raymond L, Kurian MA, Klein C, Fung VS.

Mov Disord. 2016 Jul;31(7):1033-40. doi: 10.1002/mds.26598. Epub 2016 Apr 8.


Ear Infection and Its Associated Risk Factors in First Nations and Rural School-Aged Canadian Children.

Karunanayake CP, Albritton W, Rennie DC, Lawson JA, McCallum L, Gardipy PJ, Seeseequasis J, Naytowhow A, Hagel L, McMullin K, Ramsden V, Abonyi S, Episkenew JA, Dosman JA, Pahwa P, Project Research Team TF, Study Team TS.

Int J Pediatr. 2016;2016:1523897. doi: 10.1155/2016/1523897. Epub 2016 Feb 10.


A review of a new Dutch guideline for management of recurrent varicose veins.

Lawson JA, Toonder IM.

Phlebology. 2016 Mar;31(1 Suppl):114-24. doi: 10.1177/0268355516631683. Review.


Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome.

Braun DA, Sadowski CE, Kohl S, Lovric S, Astrinidis SA, Pabst WL, Gee HY, Ashraf S, Lawson JA, Shril S, Airik M, Tan W, Schapiro D, Rao J, Choi WI, Hermle T, Kemper MJ, Pohl M, Ozaltin F, Konrad M, Bogdanovic R, Büscher R, Helmchen U, Serdaroglu E, Lifton RP, Antonin W, Hildebrandt F.

Nat Genet. 2016 Apr;48(4):457-65. doi: 10.1038/ng.3512. Epub 2016 Feb 15.


Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis.

Braun DA, Lawson JA, Gee HY, Halbritter J, Shril S, Tan W, Stein D, Wassner AJ, Ferguson MA, Gucev Z, Fisher B, Spaneas L, Varner J, Sayer JA, Milosevic D, Baum M, Tasic V, Hildebrandt F.

Clin J Am Soc Nephrol. 2016 Apr 7;11(4):664-72. doi: 10.2215/CJN.07540715. Epub 2016 Jan 19.


Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies.

Schueler M, Halbritter J, Phelps IG, Braun DA, Otto EA, Porath JD, Gee HY, Shendure J, O'Roak BJ, Lawson JA, Nabhan MM, Soliman NA, Doherty D, Hildebrandt F.

J Med Genet. 2016 Mar;53(3):208-14. doi: 10.1136/jmedgenet-2015-103304. Epub 2015 Dec 16.

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