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Page 1
Resequencing of VEGFR3 pathway genes implicate GJC2 and FLT4 in the formation of primary congenital chylothorax.
Schneider S, Köllges R, Stegmann JD, Thieme F, Hilger AC, Waffenschmidt L, Fazaal J, Kalanithy JC, Geipel A, Strizek B, Ludwig KU, Reutter H, Müller A. Schneider S, et al. Among authors: fazaal j. Am J Med Genet A. 2022 May;188(5):1607-1611. doi: 10.1002/ajmg.a.62643. Epub 2022 Jan 7. Am J Med Genet A. 2022. PMID: 34994518 No abstract available.
Re-sequencing of candidate genes FOXF1, HSPA6, HAAO, and KYNU in 522 individuals with VATER/VACTERL, VACTER/VACTERL-like association, and isolated anorectal malformation.
Thiem CE, Stegmann JD, Hilger AC, Waffenschmidt L, Bendixen C, Köllges R, Schmiedeke E, Schäfer FM, Lacher M, Kosch F, Grasshoff-Derr S, Kabs C, Neser J, Jenetzky E, Fazaal J, Schumacher J, Hoefele J, Ludwig KU, Reutter H. Thiem CE, et al. Among authors: fazaal j. Birth Defects Res. 2022 Jun;114(10):478-486. doi: 10.1002/bdr2.2008. Epub 2022 Mar 31. Birth Defects Res. 2022. PMID: 35362267
TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19.
Schmidt A, Peters S, Knaus A, Sabir H, Hamsen F, Maj C, Fazaal J, Sivalingam S, Savchenko O, Mantri A, Holzinger D, Neudorf U, Müller A, Ludwig KU, Krawitz PM, Engels H, Nöthen MM, Bagci S. Schmidt A, et al. Among authors: fazaal j. NPJ Genom Med. 2021 Jul 1;6(1):55. doi: 10.1038/s41525-021-00220-w. NPJ Genom Med. 2021. PMID: 34210994 Free PMC article.
Detailed stratified GWAS analysis for severe COVID-19 in four European populations.
Degenhardt F, Ellinghaus D, Juzenas S, Lerga-Jaso J, Wendorff M, Maya-Miles D, Uellendahl-Werth F, ElAbd H, Rühlemann MC, Arora J, Özer O, Lenning OB, Myhre R, Vadla MS, Wacker EM, Wienbrandt L, Blandino Ortiz A, de Salazar A, Garrido Chercoles A, Palom A, Ruiz A, Garcia-Fernandez AE, Blanco-Grau A, Mantovani A, Zanella A, Holten AR, Mayer A, Bandera A, Cherubini A, Protti A, Aghemo A, Gerussi A, Ramirez A, Braun A, Nebel A, Barreira A, Lleo A, Teles A, Kildal AB, Biondi A, Caballero-Garralda A, Ganna A, Gori A, Glück A, Lind A, Tanck A, Hinney A, Carreras Nolla A, Fracanzani AL, Peschuck A, Cavallero A, Dyrhol-Riise AM, Ruello A, Julià A, Muscatello A, Pesenti A, Voza A, Rando-Segura A, Solier A, Schmidt A, Cortes B, Mateos B, Nafria-Jimenez B, Schaefer B, Jensen B, Bellinghausen C, Maj C, Ferrando C, de la Horra C, Quereda C, Skurk C, Thibeault C, Scollo C, Herr C, Spinner CD, Gassner C, Lange C, Hu C, Paccapelo C, Lehmann C, Angelini C, Cappadona C, Azuure C; COVICAT study group, Aachen Study (COVAS); Bianco C, Cea C, Sancho C, Hoff DAL, Galimberti D, Prati D, Haschka D, Jiménez D, Pestaña D, Toapanta D, Muñiz-Diaz E, Azzolini E, Sandoval E, Binatti E, Scarpini E, Helbig ET, Ca… See abstract for full author list ➔ Degenhardt F, et al. Among authors: fazaal j. Hum Mol Genet. 2022 Nov 28;31(23):3945-3966. doi: 10.1093/hmg/ddac158. Hum Mol Genet. 2022. PMID: 35848942 Free PMC article.
Molecular Genetic Screening in Patients With ACE Inhibitor/Angiotensin Receptor Blocker-Induced Angioedema to Explore the Role of Hereditary Angioedema Genes.
Mathey CM, Maj C, Scheer AB, Fazaal J, Wedi B, Wieczorek D, Amann PM, Löffler H, Koch L, Schöffl C, Dickel H, Ganjuur N, Hornung T, Forkel S, Greve J, Wurpts G, Hallberg P, Bygum A, Von Buchwald C, Karawajczyk M, Steffens M, Stingl J, Hoffmann P, Heilmann-Heimbach S, Mangold E, Ludwig KU, Rasmussen ER, Wadelius M, Sachs B, Nöthen MM, Forstner AJ. Mathey CM, et al. Among authors: fazaal j. Front Genet. 2022 Jul 18;13:914376. doi: 10.3389/fgene.2022.914376. eCollection 2022. Front Genet. 2022. PMID: 35923707 Free PMC article.
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity.
Fallerini C, Picchiotti N, Baldassarri M, Zguro K, Daga S, Fava F, Benetti E, Amitrano S, Bruttini M, Palmieri M, Croci S, Lista M, Beligni G, Valentino F, Meloni I, Tanfoni M, Minnai F, Colombo F, Cabri E, Fratelli M, Gabbi C, Mantovani S, Frullanti E, Gori M, Crawley FP, Butler-Laporte G, Richards B, Zeberg H, Lipcsey M, Hultström M, Ludwig KU, Schulte EC, Pairo-Castineira E, Baillie JK, Schmidt A, Frithiof R; WES/WGS Working Group Within the HGI; GenOMICC Consortium; GEN-COVID Multicenter Study; Mari F, Renieri A, Furini S. Fallerini C, et al. Hum Genet. 2022 Jan;141(1):147-173. doi: 10.1007/s00439-021-02397-7. Epub 2021 Dec 10. Hum Genet. 2022. PMID: 34889978 Free PMC article.
Age-dependent impact of the major common genetic risk factor for COVID-19 on severity and mortality.
Nakanishi T, Pigazzini S, Degenhardt F, Cordioli M, Butler-Laporte G, Maya-Miles D, Bujanda L, Bouysran Y, Niemi ME, Palom A, Ellinghaus D, Khan A, Martínez-Bueno M, Rolker S, Amitrano S, Roade Tato L, Fava F; FinnGen; COVID-19 Host Genetics Initiative (HGI); Spinner CD, Prati D, Bernardo D, Garcia F, Darcis G, Fernández-Cadenas I, Holter JC, Banales JM, Frithiof R, Kiryluk K, Duga S, Asselta R, Pereira AC, Romero-Gómez M, Nafría-Jiménez B, Hov JR, Migeotte I, Renieri A, Planas AM, Ludwig KU, Buti M, Rahmouni S, Alarcón-Riquelme ME, Schulte EC, Franke A, Karlsen TH, Valenti L, Zeberg H, Richards JB, Ganna A. Nakanishi T, et al. J Clin Invest. 2021 Dec 1;131(23):e152386. doi: 10.1172/JCI152386. J Clin Invest. 2021. PMID: 34597274 Free PMC article. Clinical Trial.
Mapping the human genetic architecture of COVID-19.
COVID-19 Host Genetics Initiative. COVID-19 Host Genetics Initiative. Nature. 2021 Dec;600(7889):472-477. doi: 10.1038/s41586-021-03767-x. Epub 2021 Jul 8. Nature. 2021. PMID: 34237774 Free PMC article.
Study Protocol of a Randomized, Two-Arm, Phase I/II Trial Investigating the Feasibility, Safety, and Efficacy of Local Treatment with US-Guided High-Intensity Focused Ultrasound in Combination with Palliative Chemotherapy in Inoperable Pancreatic Cancer.
Marinova M, Khouri DA, Küppers J, Ramig O, Strunk HM, Breuers J, Fazaal J, Fuhrmann C, Coenen M, Möhring C, Zhou T, Zhou X, Anhalt T, Sadeghlar F, Thudium M, Conrad R, Feldmann G, Brossart P, Glowka TR, Kalff JC, Essler M, Strassburg CP, Ko YD, Schmidt-Wolf IGH, Gonzalez-Carmona M. Marinova M, et al. Among authors: fazaal j. J Clin Med. 2024 Jun 26;13(13):3717. doi: 10.3390/jcm13133717. J Clin Med. 2024. PMID: 38999283 Free PMC article.
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