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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1987 1
1995 1
1997 1
1998 1
2001 4
2002 2
2003 1
2004 5
2005 5
2006 2
2007 4
2008 4
2009 3
2010 4
2011 3
2012 9
2013 6
2014 17
2015 13
2016 11
2017 17
2018 26
2019 13
2020 13
2021 20
2022 15
2023 16
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2025 13

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221 results

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Page 1
Whole-genome sequencing of patients with rare diseases in a national health system.
Turro E, Astle WJ, Megy K, Gräf S, Greene D, Shamardina O, Allen HL, Sanchis-Juan A, Frontini M, Thys C, Stephens J, Mapeta R, Burren OS, Downes K, Haimel M, Tuna S, Deevi SVV, Aitman TJ, Bennett DL, Calleja P, Carss K, Caulfield MJ, Chinnery PF, Dixon PH, Gale DP, James R, Koziell A, Laffan MA, Levine AP, Maher ER, Markus HS, Morales J, Morrell NW, Mumford AD, Ormondroyd E, Rankin S, Rendon A, Richardson S, Roberts I, Roy NBA, Saleem MA, Smith KGC, Stark H, Tan RYY, Themistocleous AC, Thrasher AJ, Watkins H, Webster AR, Wilkins MR, Williamson C, Whitworth J, Humphray S, Bentley DR; NIHR BioResource for the 100,000 Genomes Project; Kingston N, Walker N, Bradley JR, Ashford S, Penkett CJ, Freson K, Stirrups KE, Raymond FL, Ouwehand WH. Turro E, et al. Nature. 2020 Jul;583(7814):96-102. doi: 10.1038/s41586-020-2434-2. Epub 2020 Jun 24. Nature. 2020. PMID: 32581362 Free PMC article.
The international WAO/EAACI guideline for the management of hereditary angioedema-The 2021 revision and update.
Maurer M, Magerl M, Betschel S, Aberer W, Ansotegui IJ, Aygören-Pürsün E, Banerji A, Bara NA, Boccon-Gibod I, Bork K, Bouillet L, Boysen HB, Brodszki N, Busse PJ, Bygum A, Caballero T, Cancian M, Castaldo A, Cohn DM, Csuka D, Farkas H, Gompels M, Gower R, Grumach AS, Guidos-Fogelbach G, Hide M, Kang HR, Kaplan AP, Katelaris C, Kiani-Alikhan S, Lei WT, Lockey R, Longhurst H, Lumry WR, MacGinnitie A, Malbran A, Martinez Saguer I, Matta JJ, Nast A, Nguyen D, Nieto-Martinez SA, Pawankar R, Peter J, Porebski G, Prior N, Reshef A, Riedl M, Ritchie B, Rafique Sheikh F, Smith WB, Spaeth PJ, Stobiecki M, Toubi E, Varga LA, Weller K, Zanichelli A, Zhi Y, Zuraw B, Craig T. Maurer M, et al. Among authors: longhurst h. Allergy. 2022 Jul;77(7):1961-1990. doi: 10.1111/all.15214. Epub 2022 Feb 3. Allergy. 2022. PMID: 35006617
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.
Carss KJ, Arno G, Erwood M, Stephens J, Sanchis-Juan A, Hull S, Megy K, Grozeva D, Dewhurst E, Malka S, Plagnol V, Penkett C, Stirrups K, Rizzo R, Wright G, Josifova D, Bitner-Glindzicz M, Scott RH, Clement E, Allen L, Armstrong R, Brady AF, Carmichael J, Chitre M, Henderson RHH, Hurst J, MacLaren RE, Murphy E, Paterson J, Rosser E, Thompson DA, Wakeling E, Ouwehand WH, Michaelides M, Moore AT; NIHR-BioResource Rare Diseases Consortium; Webster AR, Raymond FL. Carss KJ, et al. Am J Hum Genet. 2017 Jan 5;100(1):75-90. doi: 10.1016/j.ajhg.2016.12.003. Epub 2016 Dec 29. Am J Hum Genet. 2017. PMID: 28041643 Free PMC article.
Effect of Lanadelumab Compared With Placebo on Prevention of Hereditary Angioedema Attacks: A Randomized Clinical Trial.
Banerji A, Riedl MA, Bernstein JA, Cicardi M, Longhurst HJ, Zuraw BL, Busse PJ, Anderson J, Magerl M, Martinez-Saguer I, Davis-Lorton M, Zanichelli A, Li HH, Craig T, Jacobs J, Johnston DT, Shapiro R, Yang WH, Lumry WR, Manning ME, Schwartz LB, Shennak M, Soteres D, Zaragoza-Urdaz RH, Gierer S, Smith AM, Tachdjian R, Wedner HJ, Hebert J, Rehman SM, Staubach P, Schranz J, Baptista J, Nothaft W, Maurer M; HELP Investigators. Banerji A, et al. Among authors: longhurst hj. JAMA. 2018 Nov 27;320(20):2108-2121. doi: 10.1001/jama.2018.16773. JAMA. 2018. PMID: 30480729 Free PMC article. Clinical Trial.
CRISPR-Cas9 In Vivo Gene Editing of KLKB1 for Hereditary Angioedema.
Longhurst HJ, Lindsay K, Petersen RS, Fijen LM, Gurugama P, Maag D, Butler JS, Shah MY, Golden A, Xu Y, Boiselle C, Vogel JD, Abdelhady AM, Maitland ML, McKee MD, Seitzer J, Han BW, Soukamneuth S, Leonard J, Sepp-Lorenzino L, Clark ED, Lebwohl D, Cohn DM. Longhurst HJ, et al. N Engl J Med. 2024 Feb 1;390(5):432-441. doi: 10.1056/NEJMoa2309149. N Engl J Med. 2024. PMID: 38294975 Clinical Trial.
CRISPR-Based Therapy for Hereditary Angioedema.
Cohn DM, Gurugama P, Magerl M, Katelaris CH, Launay D, Bouillet L, Petersen RS, Lindsay K, Aygören-Pürsün E, Maag D, Butler JS, Shah MY, Golden A, Xu Y, Abdelhady AM, Lebwohl D, Longhurst HJ. Cohn DM, et al. Among authors: longhurst hj. N Engl J Med. 2025 Jan 30;392(5):458-467. doi: 10.1056/NEJMoa2405734. Epub 2024 Oct 24. N Engl J Med. 2025. PMID: 39445704 Clinical Trial.
[No title available]
Maurer M, Magerl M, Ansotegui I, Aygören-Pürsün E, Betschel S, Bork K, Bowen T, Boysen HB, Farkas H, Grumach AS, Hide M, Katelaris C, Lockey R, Longhurst H, Lumry WR, Martinez-Saguer I, Moldovan D, Nast A, Pawankar R, Potter P, Riedl M, Ritchie B, Rosenwasser L, Sánchez-Borges M, Zhi Y, Zuraw B, Craig T. Maurer M, et al. Among authors: longhurst h. Arerugi. 2023;72(2):158-183. doi: 10.15036/arerugi.72.158. Arerugi. 2023. PMID: 36928049 Japanese. No abstract available.
[No title available]
Maurer M, Magerl M, Betschel S, Aberer W, Ansotegui IJ, Aygören-Pürsün E, Banerji A, Bara NA, Boccon-Gibod I, Bork K, Bouillet L, Boysen HB, Brodszki N, Busse PJ, Bygum A, Caballero T, Cancian M, Castaldo A, Cohn DM, Csuka D, Farkas H, Gompels M, Gower R, Grumach AS, Guidos-Fogelbach G, Hide M, Kang HR, Kaplan AP, Katelaris C, Kiani-Alikhan S, Lei WT, Lockey R, Longhurst H, Lumry WR, MacGinnitie A, Malbran A, Saguer IM, Matta JJ, Nast A, Nguyen D, Nieto-Martinez SA, Pawankar R, Peter J, Porebski G, Prior N, Reshef A, Riedl M, Ritchie B, Sheikh FR, Smith WB, Spaeth PJ, Stobiecki M, Toubi E, Varga LA, Weller K, Zanichelli A, Zhi Y, Zuraw B, Craig T. Maurer M, et al. Among authors: longhurst h. Arerugi. 2023;72(3):237-272. doi: 10.15036/arerugi.72.237. Arerugi. 2023. PMID: 37225467 Japanese. No abstract available.
[No title available]
Maurer M, Magerl M, Betschel S, Aberer W, Ansotegui IJ, Aygören-Pürsün E, Banerji A, Bara NA, Boccon-Gibod I, Bork K, Bouillet L, Boysen HB, Brodszki N, Busse PJ, Bygum A, Caballero T, Cancian M, Castaldo A, Cohn DM, Csuka D, Farkas H, Gompels M, Gower R, Grumach AS, Guidos-Fogelbach G, Hide M, Kang HR, Kaplan AP, Katelaris C, Kiani-Alikhan S, Lei WT, Lockey R, Longhurst H, Lumry WR, MacGinnitie A, Malbran A, Saguer IM, Matta JJ, Nast A, Nguyen D, Nieto-Martinez SA, Pawankar R, Peter J, Porebski G, Prior N, Reshef A, Riedl M, Ritchie B, Sheikh FR, Smith WB, Spaeth PJ, Stobiecki M, Toubi E, Varga LA, Weller K, Zanichelli A, Zhi Y, Zuraw B, Craig T. Maurer M, et al. Among authors: longhurst h. Arerugi. 2023;72(8):1084. doi: 10.15036/arerugi.72.1084. Arerugi. 2023. PMID: 37730355 Japanese. No abstract available.
Hereditary Angioedema with Normal C1 Inhibitor: an Updated International Consensus Paper on Diagnosis, Pathophysiology, and Treatment.
Zuraw BL, Bork K, Bouillet L, Christiansen SC, Farkas H, Germenis AE, Grumach AS, Kaplan A, López-Lera A, Magerl M, Riedl MA, Adatia A, Banerji A, Betschel S, Boccon-Gibod I, Bova M, Boysen HB, Caballero T, Cancian M, Castaldo AJ, Cohn DM, Corcoran D, Drouet C, Fukunaga A, Hide M, Katelaris CH, Li PH, Longhurst H, Peter J, Psarros F, Reshef A, Ritchie B, Selva CN, Zanichelli A, Maurer M. Zuraw BL, et al. Among authors: longhurst h. Clin Rev Allergy Immunol. 2025 Mar 7;68(1):24. doi: 10.1007/s12016-025-09027-4. Clin Rev Allergy Immunol. 2025. PMID: 40053270 Free PMC article. Review.
221 results