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

Year Number of Results
1997 1
2001 1
2005 1
2006 1
2007 1
2008 1
2009 2
2010 1
2011 1
2012 4
2013 1
2014 4
2015 6
2016 7
2017 10
2018 9
2019 15
2020 13
2021 15
2022 15
2023 5
2024 9
2025 8

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115 results

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Page 1
Orbital Hypertelorism.
Patel SY, Ghali GE. Patel SY, et al. Atlas Oral Maxillofac Surg Clin North Am. 2022 Mar;30(1):101-112. doi: 10.1016/j.cxom.2021.11.002. Atlas Oral Maxillofac Surg Clin North Am. 2022. PMID: 35256103 Review. No abstract available.
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Pagnamenta AT, Camps C, Giacopuzzi E, Taylor JM, Hashim M, Calpena E, Kaisaki PJ, Hashimoto A, Yu J, Sanders E, Schwessinger R, Hughes JR, Lunter G, Dreau H, Ferla M, Lange L, Kesim Y, Ragoussis V, Vavoulis DV, Allroggen H, Ansorge O, Babbs C, Banka S, Baños-Piñero B, Beeson D, Ben-Ami T, Bennett DL, Bento C, Blair E, Brasch-Andersen C, Bull KR, Cario H, Cilliers D, Conti V, Davies EG, Dhalla F, Dacal BD, Dong Y, Dunford JE, Guerrini R, Harris AL, Hartley J, Hollander G, Javaid K, Kane M, Kelly D, Kelly D, Knight SJL, Kreins AY, Kvikstad EM, Langman CB, Lester T, Lines KE, Lord SR, Lu X, Mansour S, Manzur A, Maroofian R, Marsden B, Mason J, McGowan SJ, Mei D, Mlcochova H, Murakami Y, Németh AH, Okoli S, Ormondroyd E, Ousager LB, Palace J, Patel SY, Pentony MM, Pugh C, Rad A, Ramesh A, Riva SG, Roberts I, Roy N, Salminen O, Schilling KD, Scott C, Sen A, Smith C, Stevenson M, Thakker RV, Twigg SRF, Uhlig HH, van Wijk R, Vona B, Wall S, Wang J, Watkins H, Zak J, Schuh AH, Kini U, Wilkie AOM, Popitsch N, Taylor JC. Pagnamenta AT, et al. Among authors: patel sy. Genome Med. 2023 Nov 9;15(1):94. doi: 10.1186/s13073-023-01240-0. Genome Med. 2023. PMID: 37946251 Free PMC article.
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.
Toubiana J, Okada S, Hiller J, Oleastro M, Lagos Gomez M, Aldave Becerra JC, Ouachée-Chardin M, Fouyssac F, Girisha KM, Etzioni A, Van Montfrans J, Camcioglu Y, Kerns LA, Belohradsky B, Blanche S, Bousfiha A, Rodriguez-Gallego C, Meyts I, Kisand K, Reichenbach J, Renner ED, Rosenzweig S, Grimbacher B, van de Veerdonk FL, Traidl-Hoffmann C, Picard C, Marodi L, Morio T, Kobayashi M, Lilic D, Milner JD, Holland S, Casanova JL, Puel A; International STAT1 Gain-of-Function Study Group. Toubiana J, et al. Blood. 2016 Jun 23;127(25):3154-64. doi: 10.1182/blood-2015-11-679902. Epub 2016 Apr 25. Blood. 2016. PMID: 27114460 Free PMC article.
British Lung Foundation/United Kingdom Primary Immunodeficiency Network Consensus Statement on the Definition, Diagnosis, and Management of Granulomatous-Lymphocytic Interstitial Lung Disease in Common Variable Immunodeficiency Disorders.
Hurst JR, Verma N, Lowe D, Baxendale HE, Jolles S, Kelleher P, Longhurst HJ, Patel SY, Renzoni EA, Sander CR, Avery GR, Babar JL, Buckland MS, Burns S, Egner W, Gompels MM, Gordins P, Haddock JA, Hart SP, Hayman GR, Herriot R, Hoyles RK, Huissoon AP, Jacob J, Nicholson AG, Rassl DM, Sargur RB, Savic S, Seneviratne SL, Sheaff M, Vaitla PM, Walters GI, Whitehouse JL, Wright PA, Condliffe AM. Hurst JR, et al. Among authors: patel sy. J Allergy Clin Immunol Pract. 2017 Jul-Aug;5(4):938-945. doi: 10.1016/j.jaip.2017.01.021. Epub 2017 Mar 25. J Allergy Clin Immunol Pract. 2017. PMID: 28351785 Free article. Review.
Author Reply.
Chipollini JJ, Tang DH, Patel SY, Garcia-Getting RE, Gilbert SM, Pow-Sang JM, Sexton WJ, Spiess PE, Poch MA. Chipollini JJ, et al. Among authors: patel sy. Urology. 2017 May;103:148. doi: 10.1016/j.urology.2016.12.017. Epub 2017 Jan 17. Urology. 2017. PMID: 28108090 No abstract available.
Neonatal informatics: past, present and future.
Patel SY, Palma JP, Hoffman JM, Lehmann CU. Patel SY, et al. J Perinatol. 2024 Jun;44(6):773-776. doi: 10.1038/s41372-024-01924-4. Epub 2024 Mar 7. J Perinatol. 2024. PMID: 38454154 Free PMC article. No abstract available.
The efficacy and safety of systemic corticosteroids as first line treatment for granulomatous lymphocytic interstitial lung disease.
Smits B, Goldacker S, Seneviratne S, Malphettes M, Longhurst H, Mohamed OE, Witt-Rautenberg C, Leeman L, Schwaneck E, Raymond I, Meghit K, Uhlmann A, Winterhalter C, van Montfrans J, Klima M, Workman S, Fieschi C, Lorenzo L, Boyle S, Onyango-Odera S, Price S, Schmalzing M, Aurillac V, Prasse A, Hartmann I, Meerburg JJ, Kemner-van de Corput M, Tiddens H, Grimbacher B, Kelleher P, Patel SY, Korganow AS, Viallard JF, Tony HP, Bethune C, Schulze-Koops H, Witte T, Huissoon A, Baxendale H, Grigoriadou S, Oksenhendler E, Burns SO, Warnatz K. Smits B, et al. Among authors: patel sy. J Allergy Clin Immunol. 2023 Aug;152(2):528-537. doi: 10.1016/j.jaci.2022.12.813. Epub 2022 Dec 29. J Allergy Clin Immunol. 2023. PMID: 36587851 Clinical Trial.
Investigating pulmonary and non-infectious complications in common variable immunodeficiency disorders: a UK national multi-centre study.
Bintalib HM, Grigoriadou S, Patel SY, Mutlu L, Sooriyakumar K, Vaitla P, McDermott E, Drewe E, Steele C, Ahuja M, Garcez T, Gompels M, Grammatikos A, Herwadkar A, Ayub R, Halliday N, Burns SO, Hurst JR, Goddard S. Bintalib HM, et al. Among authors: patel sy. Front Immunol. 2024 Sep 10;15:1451813. doi: 10.3389/fimmu.2024.1451813. eCollection 2024. Front Immunol. 2024. PMID: 39318627 Free PMC article.
115 results