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Category: Publications

Airway inflammation enhances the effectiveness of elexacaftor-tezacaftor-ivacaftor therapy for cystic fibrosis and CFTR N1303K mutation.

November 1, 2024
Gentzsch M, Esther CR Jr, Ribeiro CMP. Lancet Respir Med. Nov 2024;12:e67.DOI: 10.1016/S2213-2600(24)00305-9. PMID: 39395437.

EMC3 regulates trafficking and pulmonary toxicity of the SFTPCI73T mutation associated with interstitial lung disease.

October 15, 2024
Tang X, Wei W, Sun Y, Weaver TE, Nakayasu ES, Clair G, Snowball JM, Na CL, Apsley KS, Martin EP, Kotton DN, Alysandratos KD, Huo J, Molkentin JD, Gower WA, Lin X, Whitsett JA. J Clin Invest. 2024 Oct 15;134(23):e173861. doi: 10.1172/JCI173861. PMID: 39405113.

Evaluation of early treatment with intravenous idursulfase and intrathecal idursulfase-IT on cognitive function in siblings with neuronopathic mucopolysaccharidosis II.

September 1, 2024
Muenzer J, Burton BK, Harmatz P, Gutiérrez-Solana LG, Ruiz-Garcia M, Jones SA, Guffon N, Inbar-Feigenberg M, Bratkovic D, Rust S, Hale M, Wu Y, Yee KS, Whiteman DAH, Alexanderian D.J Inherit Metab Dis. 2024 Sep 9. doi: 10.1002/jimd.12790. Online ahead of print. PMID: 39252529

Genotype-phenotype findings in patients with mucopolysaccharidosis II from the Hunter Outcome Survey. 

September 1, 2024
Muenzer J, Amartino H, Burton BK, Scarpa M, Tylki-Szymańska A, Audi J, Botha J, Fertek D, Merberg D, Natarajan M, Whiteman DAH, Giugliani R. Mol Genet Metab. 2024 Sep-Oct;143(1-2):108576. doi: 10.1016/j.ymgme.2024.108576. Epub 2024 Sep 10. PMID: 39303318.

Integrating education for clinical practice change.

August 29, 2024
Chawla EM, Schuler CL, Barnhardt EW, Herbst LA, Sarkissian A, McNeal-Trice K, Newmeyer A, Perry M, Poynter SE, Lannon C. Clin Teach. 2024 Aug;21(4):e13753. doi: 10.1111/tct.13753. Epub 2024 Feb 29.PMID: 38419551.

Genomic epidemiology of Mycobacterium abscessus at an adult cystic fibrosis programme reveals low potential for healthcare-associated transmission.

July 8, 2024
Gross JE, Finklea JD, Caceres SM, Poch KR, Hasan NA, Jia F, Epperson LE, Lipner EM, Vang CK, Honda JR, Strand MJ, Nogueira de Moura VC, Daley CL, Strong M, Nick JA. ERJ Open Res. 2024 Jul 8;10(4):00165-2024. doi: 10.1183/23120541.00165-2024. PMID: 38978544; PMCID: PMC11228611.

Recessively inherited deficiency of secreted WFDC2 (HE4) causes nasal polyposis and bronchiectasis.

July 1, 2024
Dougherty GW, Ostrowski LE, Nöthe-Menchen T, Raidt J, Schramm A, Olbrich H, Yin W, Sears PR, Dang H, Smith AJ, Beule AG, Hjeij R, Rutjies N, Haarman EG, Mass SM, Ferkol TW, Noone PG, Olivier KN, Bracht DC, Barbry P, Zaragosi LE, Fierville M, Kliesch S, Wohlgemuth K, König J,...

Online Autism Diagnostic Evaluation: Its Rise, Promise, and Reasons for Caution

June 1, 2024
Jason M Fogler, Melissa Armstrong-Brine, Rebecca Baum, Karen Ratliff-Schaub, Yamini Jagannath Howe, Lisa Campbell, Neelkamal Soares. J Dev Behav Pediatr. 2024 May-Jun;45(3):e263-e266. doi: 10.1097/DBP.0000000000001271. PMID: 38905007.

Differences in testing for drugs of abuse amongst racial and ethnic groups at children’s hospitals.

May 19, 2024
Herrera A, Hall M, Alex Ahearn M, Ahuja A, Bradford KK, Campbell RA, Chatterjee A, Coletti HY, Crowder VL, Dancel R, Diaz M, Fuchs J, Guidici J, Lewis E, Stephens JR, Sutton AG, Sweeney A, Ward KM, Weinberg S, Zwemer EK, Harrison WN. J Hosp Med. 2024 May;19(5):368-376. doi: 10.1002/jhm.13305....

Ciliopathy patient variants reveal organelle-specific function for TUBB4B in axonemal microtubule.

April 26, 2024
Dodd DO, Mechaussier S, Yeyati PL, McPhie F, Anderson JR, Khoo CJ, Shoemark A, Gupta DK, Attard T, Zariwala MA, Legendre M, Bracht D, Wallmeier J, Gui M, Fassad MR, Parry DA, Tennant PA, Meynert A, Wheway G, Fares-Taie L, Black HA, Mitri-Frangieh R, Faucon C, Kaplan J, Patel M,...