Pastrnak M, Simkova E, Novak T. Insula activity in resting-state differentiates bipolar from unipolar depression: a systematic review and meta-analysis. Sci Rep. 2021 Aug 20;11(1):16930. doi: 10.1038/s41598-021-96319-2. PMID: 34417487; PMCID: PMC8379217.
Michael M, Groothoff JW, Shasha-Lavsky H, Lieske JC, Frishberg Y, Simkova E, Sellier-Leclerc AL, Devresse A, Guebre-Egziabher F, Bakkaloglu SA, Mourani C, Saqan R, Singer R, Willey R, Habtemariam B, Gansner JM, Bhan I, McGregor T, Magen D. Lumasiran for Advanced Primary Hyperoxaluria Type 1: Phase 3 ILLUMINATE-C Trial. Am J Kidney Dis. 2023 Feb;81(2):145-155.e1. doi: 10.1053/j.ajkd.2022.05.012. Epub 2022 Jul 14. PMID: 35843439.
Habeeb SM, Yamin H, Simkova E, Awad HS, Alhammadi EA, Eid LA, Lone R, Bitzan M. Relapsing and refractory peritoneal dialysis peritonitis caused by Corynebacterium amycolatum. Pediatr Nephrol. 2022 Nov 10. doi: 10.1007/s00467-022-05801-0. Epub ahead of print. PMID: 36352270.
Halabi N, Ramaswamy S, El Naofal M, Taylor A, Yaslam S, Jain R, Alfalasi R, Shenbagam S, Bitzan M, Yavuz L, Abulhoul H, Shankar S, Janjua D, Jadhav D, Al Maazmi MM, Abuhammour W, Alsheikh-Ali A, Al Awadhi M, Al Khayat A, Abou Tayoun AN. Rapid whole genome sequencing of critically ill pediatric patients from genetically underrepresented populations. Genome Med. 2022 May 24;14(1):56. doi: 10.1186/s13073-022-01061-7. PMID: 35606784; PMCID: PMC9128109.
Woods LM, Ali FR, Gomez R, Chernukhin I, Marcos D, Parkinson LM, Tayoun ANA, Carroll JS, Philpott A. Elevated ASCL1 activity creates de novo regulatory elements associated with neuronal differentiation. BMC Genomics. 2022 Apr 3;23(1):255. doi: 10.1186/s12864-022-08495-8. PMID: 35366798; PMCID: PMC8977041.
Zhang Q, Pizzorno A, Miorin L, Bastard P, Gervais A, Le Voyer T, Bizien L, Manry J, Rosain J, Philippot Q, Goavec K, Padey B, Cupic A, Laurent E, Saker K, Vanker M, Särekannu K; COVID Human Genetic Effort; Etablissement Français du Sang Study Group; Constances Cohort; 3C-Dijon Study; Cerba HealthCare Group; Lyon Antigrippe Working Group; REIPI INF Working Group, García-Salum T, Ferres M, Le Corre N, Sánchez-Céspedes J, Balsera-Manzanero M, Carratala J, Retamar-Gentil P, Abelenda-Alonso G, Valiente A, Tiberghien P, Zins M, Debette S, Meyts I, Haerynck F, Castagnoli R, Notarangelo LD, Gonzalez-Granado LI, Dominguez-Pinilla N, Andreakos E, Triantafyllia V, Rodríguez-Gallego C, Solé-Violán J, Ruiz-Hernandez JJ, Rodríguez de Castro F, Ferreres J, Briones M, Wauters J, Vanderbeke L, Feys S, Kuo CY, Lei WT, Ku CL, Tal G, Etzioni A, Hanna S, Fournet T, Casalegno JS, Queromes G, Argaud L, Javouhey E, Rosa-Calatrava M, Cordero E, Aydillo T, Medina RA, Kisand K, Puel A, Jouanguy E, Abel L, Cobat A, Trouillet-Assant S, García-Sastre A, Casanova JL. Autoantibodies against type I IFNs in patients with critical influenza pneumonia. J Exp Med. 2022 Nov 7;219(11):e20220514. doi: 10.1084/jem.20220514. Epub 2022 Sep 16. PMID: 36112363; PMCID: PMC9485705.
Xiang J, Sun X, Song N, Ramaswamy S, Abou Tayoun AN, Peng Z. Comprehensive interpretation of single-nucleotide substitutions in GJB2 reveals the genetic and phenotypic landscape of GJB2-related hearing loss. Hum Genet. 2022 Sep 1. doi: 10.1007/s00439-022-02479-0. Epub ahead of print. PMID: 36048236.
Zhang Q, Matuozzo D, Le Pen J, Lee D, Moens L, Asano T, Bohlen J, Liu Z, Moncada-Velez M, Kendir-Demirkol Y, Jing H, Bizien L, Marchal A, Abolhassani H, Delafontaine S, Bucciol G; COVID Human Genetic Effort, Bayhan GI, Keles S, Kiykim A, Hancerli S, Haerynck F, Florkin B, Hatipoglu N, Ozcelik T, Morelle G, Zatz M, Ng LFP, Lye DC, Young BE, Leo YS, Dalgard CL, Lifton RP, Renia L, Meyts I, Jouanguy E, Hammarström L, Pan-Hammarström Q, Boisson B, Bastard P, Su HC, Boisson-Dupuis S, Abel L, Rice CM, Zhang SY, Cobat A, Casanova JL. Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia. J Exp Med. 2022 Aug 1;219(8):e20220131. doi: 10.1084/jem.20220131. Epub 2022 Jun 16. PMID: 35708626; PMCID: PMC9206114.
Campbell TM, Liu Z, Zhang Q, Moncada-Velez M, Covill LE, Zhang P, Alavi Darazam I, Bastard P, Bizien L, Bucciol G, Lind Enoksson S, Jouanguy E, Karabela ŞN, Khan T, Kendir-Demirkol Y, Arias AA, Mansouri D, Marits P, Marr N, Migeotte I, Moens L, Ozcelik T, Pellier I, Sendel A, Shahrooei M, Smith CIE, Vandernoot I, Willekens K; COVID Human Genetic Effort, Bergman P, Abel L, Cobat A, Casanova JL, Meyts I, Bryceson YT. Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency. J Exp Med. 2022 Jul 4;219(7):e20220202. doi: 10.1084/jem.20220202. Epub 2022 Jun 7. PMID: 35670811; PMCID: PMC9178406.
Abou Tayoun AN. Comprehensive Genomic Sequencing-Based Screening for Hearing Loss in the Neonatal Intensive Care Setting-Is It Time? JAMA Netw Open. 2022 Jul 1;5(7):e2220992. doi: 10.1001/jamanetworkopen.2022.20992. PMID: 35816310.
Li MM, Tayoun AA, DiStefano M, Pandya A, Rehm HL, Robin NH, Schaefer AM, Yoshinaga-Itano C; ACMG Professional Practice and Guidelines Committee. Electronic address: documents@acmg.net. Clinical evaluation and etiologic diagnosis of hearing loss: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2022 Jul;24(7):1392-1406. doi: 10.1016/j.gim.2022.03.018. Epub 2022 May 10. PMID: 35802133.
Abuhammour W, Yavuz L, Jain R, Abu Hammour K, Al-Hammouri GF, El Naofal M, Halabi N, Yaslam S, Ramaswamy S, Taylor A, Wafadari D, Alsarhan A, Khansaheb H, Deesi ZO, Varghese RM, Uddin M, Al Suwaidi H, Al-Hammadi S, Alkhaja A, AlDabal LM, Loney T, Nowotny N, Al Khayat A, Alsheikh-Ali A, Abou Tayoun A. Genetic and Clinical Characteristics of Patients in the Middle East With Multisystem Inflammatory Syndrome in Children. JAMA Netw Open. 2022 May 2;5(5):e2214985. doi: 10.1001/jamanetworkopen.2022.14985. PMID: 35639375; PMCID: PMC9157271.
Brodin P, Casari G, Townsend L, O'Farrelly C, Tancevski I, Löffler-Ragg J, Mogensen TH, Casanova JL; COVID Human Genetic Effort. Studying severe long COVID to understand post-infectious disorders beyond COVID-19. Nat Med. 2022 May;28(5):879-882. doi: 10.1038/s41591-022-01766-7. PMID: 35383311.
Nassir N, Sati I, Al Shaibani S, Ahmed A, Almidani O, Akter H, Woodbury-Smith M, Tayoun AA, Uddin M, Albanna A. Detection of copy number variants and genes by chromosomal microarray in an Emirati neurodevelopmental disorders cohort. Neurogenetics. 2022 Apr;23(2):137-149. doi: 10.1007/s10048-022-00689-2. Epub 2022 Mar 24. PMID: 35325322.
Wilcox EH, Sarmady M, Wulf B, Wright MW, Rehm HL, Biesecker LG, Abou Tayoun AN. Evaluating the impact of in silico predictors on clinical variant classification. Genet Med. 2022 Apr;24(4):924-930. doi: 10.1016/j.gim.2021.11.018. Epub 2021 Dec 23. PMID: 34955381; PMCID: PMC9164215.
Ramaswamy S, Jain R, El Naofal M, Halabi N, Yaslam S, Taylor A, Tayoun AA. Middle Eastern Genetic Variation Improves Clinical Annotation of the Human Genome. J Pers Med. 2022 Mar 9;12(3):423. doi: 10.3390/jpm12030423. PMID: 35330423; PMCID: PMC8956070.
Zhang Q, Bastard P; COVID Human Genetic Effort, Cobat A, Casanova JL. Human genetic and immunological determinants of critical COVID-19 pneumonia. Nature. 2022 Mar;603(7902):587-598. doi: 10.1038/s41586-022-04447-0. Epub 2022 Jan 28. PMID: 35090163; PMCID: PMC8957595.
Loney T, Khansaheb H, Ramaswamy S, Harilal D, Deesi ZO, Varghese RM, Belal Al Ali A, Khadeeja A, Al Suwaidi H, Alkhajeh A, Mohamed AlDabal L, Uddin M, Al Faresi M, Joshi M, Senok A, Nowotny N, Alsheikh-Ali A, Abou Tayoun A. Genotype-phenotype correlation identified a novel SARS-CoV-2 variant possibly linked to severe disease. Transbound Emerg Dis. 2022 Mar;69(2):465-476. doi: 10.1111/tbed.14004. Epub 2021 Feb 21. PMID: 33506644; PMCID: PMC8013505.
El Naofal, Sathishkumar Ramaswamy, Ali Alsarhan, Ahmed Nugud, Alan Taylor, Ruchi Jain, Nour Halabi, Sawsan Yaslam, Roudha Alfalasi, Shruti Shenbagam, Martin Bitzan, Lemis Yavuz, Deena Wafadari, Hamda Abulhoul, Shiva Shankar, Munira Al Maazmi, Ruba Rizk, Zeinab Alloub, Haitham Elbashir, Mohamed O. E. Babiker, Nidheesh Chencheri, Ammar AlBanna, Meshal Sultan, Mohamed El Bitar, Safeena Kherani, Nandu Thalange, Sattar Alshryda, Roberto Di Donato, Christos Tzivinikos, Ibrar Majid, Alexandra F. Freeman, Corina Gonzalez, Arif O. Khan, Hisham Hamdan, Walid Abuhammour, Mohamed Al Awadhi, Abdulla Al Khayat, Alawi Alsheikh-Ali, Ahmad N. Abou Tayoun. The Genomic Landscape of Rare Disorders in the Middle East. doi: https://doi.org/10.1101/2022.09.17.22279590.
Nassir N, Sati I, Al Shaibani S, Ahmed A, Almidani O, Akter H, Woodbury-Smith M, Tayoun AA, Uddin M, Albanna A. Detection of copy number variants and genes by chromosomal microarray in an Emirati neurodevelopmental disorders cohort. Neurogenetics. 2022 Apr;23(2):137-149. doi: 10.1007/s10048-022-00689-2. Epub 2022 Mar 24. PMID: 35325322.
wase T, Garg RK, Al Soufi MA, Di Donato RM. Neonatal sutureless pericardial marsupialization for isolated iatrogenic pulmonary stenosis. J Card Surg 2022;1-3.
Yas Kaveh Boushehri; Lakshmanan Jeyaseelan; Meshal A. Sultan. Stress and coping strategies among Medical Students in Dubai, United Arab Emirates, in 2020: A cross -sectional Study. 27-09-2022. 10.1101/2022.09.24.22280306.
Hamdah Meer; Lakshmanan Jeyaseelan; Meshal A. Sultan; Marco Zucconi. Sleep Quality and Emotional State of Medical Students in Dubai. 2022-02-14. DOI: 10.1155/2022/8187547.
Jigar Jogia, Alia H Sharif, Faisal A Nawaz, Abdul Rahman Khan, Raed H Alawami, Maryam A Aljanahi, Meshal A Sultan. Comorbidities Associated with Attention-Deficit/Hyperactivity Disorder in Children and Adolescents at a Tertiary Care Setting. 2022-01. DOI: 10.1177/2333794X221076607.
Zainab Al-Abdullah, Faisal A Nawaz, Hawk M Kair, Meshal A Sultan. Obsessive-Compulsive Symptoms in an Adolescent with Intellectual Disability. 2022-03-22. DOI: 10.1155/2022/4943485.
Abu Hammour K, Abu Farha R, Manaseer Q, Dawoud T, Abu Hammour W. Is COVID-19 multisystem inflammatory syndrome a new variant of Kawasaki Disease? Arch Rheumatol. 2021 Dec 24;37(2):230-244. doi: 10.46497/ArchRheumatol.2022.9086. PMID: 36017200; PMCID: PMC9377180.
Modaweb A, Mansoor Z, Alsarhan A, Abuhammour W. A Case of Successfully Treated Central Line-Associated Bloodstream Infection Due to Vancomycin-Resistant Leuconostoc Citreum in a Child With Biliary Atresia. Cureus. 2022 Jan 14;14(1):e21227. doi: 10.7759/cureus.21227. PMID: 35186526; PMCID: PMC8844313.
Efficacy of mTOR inhibitors (sirolimus) in isolated limb overgrowth: a systematic review. Badawy M, Ma Y, Baldrighi C, Oestreich K, Jester A.J Hand Surg Eur Vol. 2022 Jul;47(7):698-704. doi: 10.1177/17531934211073866. Epub 2022 Feb 7.PMID: 35125022
Wrist Ganglion Cysts in Children: An Update and Review of the Literature.Zhou J, Al-Ani S, Jester A, Oestreich K, Baldrighi C, Ting JWC.Hand (N Y). 2022 Nov;17(6):1024-1030. doi: 10.1177/1558944720966716. Epub 2020 Nov 11.PMID: 33174451 Review.
Microsurgery in pediatric upper limb reconstructions: An overview.Catena N, Baldrighi C, Jester A, Soldado F, Farr S.J Child Orthop. 2022 Aug;16(4):241-255. doi: 10.1177/18632521221106390. Epub 2022 Aug 2.PMID: 3599252.
Alawadhi A, Poulin C. Spontaneous Resolution of Drug-Resistant Epilepsy in Patients with Sturge-Weber Syndrome. Child Neurology Open.2022;9. doi:10.1177/2329048X221129678.
Abdulla Alawadhi, Juan Pablo Appendino, Walter Hader, Bernard Rosenblatt, Jeremy T. Moreau, Francois Dubeau, Roy W.R. Dudley, Kenneth A. Myers. Surgically Remediable Secondary Network Epileptic Encephalopathies with Continuous Spike Wave in Sleep: Lesions May Not Be Visible on Brain Magnetic Resonance Imaging (MRI). J Child Neurol, 2022. PMID: 36184927.
Ashour M, Minato E, Alawadhi A, Berrahmoune S, Simard-Tremblay E, Poulin C, Myers KA. Diagnostic utility of specific abnormal EEG patterns in children for determining epilepsy phenotype and presence of structural brain abnormalities. Heliyon 8 (2022) e10172. PMID:36033323.
Wu CW, Lim TY, Wang C, Seltzsam S, Zheng B, Schierbaum L, Schneider S, Mann N, Connaughton DM, Nakayama M, van der Ven AT, Dai R, Kolvenbach CM, Kause F, Ottlewski I, Stajic N, Soliman NA, Kari JA, El Desoky S, Fathy HM, Milosevic D, Turudic D, Al Saffar M, Awad HS, Eid LA, Ramanathan A, Senguttuvan P, Mane SM, Lee RS, Bauer SB, Lu W, Hilger AC, Tasic V, Shril S, Sanna-Cherchi S, Hildebrandt F. Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary Tract. Eur Urol Open Sci. 2022 Sep 1;44:106-112. doi: 10.1016/j.euros.2022.08.004. PMID: 36185583; PMCID: PMC9520493.
Beshir E,* Belt E, Chencherri N, Ismail A, Pallavidino M, Terheggen U, Abdalla A, Sharif E, Bitzan M.¶ Case report: Guillain Barrée syndrome as the primary presentation of Systemic Lupus Erythematosus (SLE-GBS) in a teenage girl. Front Pediatr 2022. https://doi.org/10.3389/fped.2022.838927.
Vlieger AM, Assa A, Borrelli O, Broekaert I, Deganello Saccomani M, Dolinsek J, Carpi de JM, Mas E, Miele E, Thomson M, Tzivinikos C, Benninga MA; Hypnotherapy in pediatric gastroenterology. Gastroenterology Committee of ESPGHAN.J Pediatr Gastroenterol Nutr. 2022 Sep 14. doi: 10.1097/MPG.0000000000003617. Online ahead of print.PMID: 36103277.
Thomassen RA, Luque V, Assa A, Borrelli O, Broekaert I, Dolinsek J, Martin-de-Carpi J, Mas E, Miele E, Norsa L, Ribes-Koninckx C, Saccomani MD, Thomson M, Tzivinikos C, Verduci E, Bronsky J, Haiden N, Köglmeier J, de Koning B, Benninga MA. An ESPGHAN Position Paper on the Use of Low-FODMAP Diet in Pediatric Gastroenterology. J Pediatr Gastroenterol Nutr. 2022 Sep 1;75(3):356-368. doi: 10.1097/MPG.0000000000003526. Epub 2022 Aug 9. PMID: 35706093.
van Beek J, Fraaij P, Giaquinto C, Shingadia D, Horby P, Indolfi G, Koopmans M; Acute hepatitis study group. Case numbers of acute hepatitis of unknown aetiology among children in 24 countries up to 18 April 2022 compared to the previous 5 years. Euro Surveill. 2022 May;27(19):2200370. doi: 10.2807/1560-7917.ES.2022.27.19.2200370. Erratum in: Euro Surveill. 2022 May;27(20): PMID: 35551703; PMCID: PMC9101970.
Hatem R, Nawaz FA, Al-Sharif GA, Almoosa M, Kattan W, Tzivinikos C, Amirali EL, Albanna A. Nonalcoholic Fatty Liver Disease in Children and Adolescents Taking Atypical Antipsychotic Medications: Protocol for a Systematic Review and Meta-analysis. JMIR Res Protoc. 2022 Mar 21;11(3):e20168. doi: 10.2196/20168. PMID: 35311689; PMCID: PMC8981001.
Assa A, Borrelli O, Broekaert I, Saccomani MD, Dolinsek J, Martin-de-Carpi J, Mas E, Miele E, Sila S, Thomson M, Tzivinikos C, Benninga MA; Gastrointestinal Committee of ESPGHAN. Helicobacter pylori-negative Chronic Gastritis in Children: A Systematic Review. J Pediatr Gastroenterol Nutr. 2022 May 1;74(5):956-967. doi: 10.1097/MPG.0000000000003414. Epub 2022 Feb 16. PMID: 35175996.
Mas E, Borrelli O, Broekaert I, de-Carpi JM, Dolinsek J, Miele E, Pienar C, Koninckx CR, Thomassen RA, Thomson M, Tzivinikos C, Benninga MA. Drugs in Focus: Octreotide Use in Children With Gastrointestinal Disorders. J Pediatr Gastroenterol Nutr. 2022 Jan 1;74(1):1-6. doi: 10.1097/MPG.0000000000003294. PMID: 34508049.
Broekaert IJ, Borrelli O, Dolinsek J, Martin-de-Carpi J, Mas E, Miele E, Pienar C, Ribes-Koninckx C, Thomassen R, Thomson M, Tzivinikos C, Benninga M. An ESPGHAN Position Paper on the Use of Breath Testing in Paediatric Gastroenterology. J Pediatr Gastroenterol Nutr. 2022 Jan 1;74(1):123-137. doi: 10.1097/MPG.0000000000003245. PMID: 34292218.
Wu CW, Lim TY, Wang C, Seltzsam S, Zheng B, Schierbaum L, Schneider S, Mann N, Connaughton DM, Nakayama M, van der Ven AT, Dai R, Kolvenbach CM, Kause F, Ottlewski I, Stajic N, Soliman NA, Kari JA, El Desoky S, Fathy HM, Milosevic D, Turudic D, Al Saffar M, Awad HS, Eid LA, Ramanathan A, Senguttuvan P, Mane SM, Lee RS, Bauer SB, Lu W, Hilger AC, Tasic V, Shril S, Sanna-Cherchi S, Hildebrandt F. Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary Tract. Eur Urol Open Sci. 2022 Sep 1;44:106-112. doi: 10.1016/j.euros.2022.08.004. PMID: 36185583; PMCID: PMC9520493.
Marlais M, Wlodkowski T, Printza N, Kronsteiner D, Krisam R, Sauer L, Aksenova M, Ashoor I, Awan A, Bacchetta J, Balasubramanian R, Basu B, Bekassy Z, Boyer O, Chan EY, Csaicsich D, Decramer S, Dorresteijn E, Drozynska-Duklas M, Eid LA, Espinosa L, Ferraris V, Flögelová H, Forero-Delgadillo J, Gianviti A, Gracchi V, González ML, Hansen M, Hattori M, Hong X, Hooman N, Ivanov D, Kang HG, Karava V, Kazyra I, Lungu A, Marks S, Maxted A, Moczulska A, Müller R, Nastausheva T, Parolin M, Pecoraro C, Principi I, Sanchez-Kazi C, Saygili S, Schild R, Shenoy M, Sinha R, Spizzirri AP, Stack M, Szczepanska M, Tsygin A, Tzeng J, Urbonas V, Zapata C, Zieg J, Schaefer F, Vivarelli M, Tullus K. Clinical Factors and Adverse Kidney Outcomes in Children With Antineutrophil Cytoplasmic Antibody-Associated Glomerulonephritis. Am J Kidney Dis. 2022 Jul 8:S0272-6386(22)00772-7. doi: 10.1053/j.ajkd.2022.05.013. Epub ahead of print. PMID: 35810826.
Wang C, Seltzsam S, Zheng B, Wu CW, Nicolas-Frank C, Yousef K, Au KS, Mann N, Pantel D, Schneider S, Schierbaum L, Kitzler TM, Connaughton DM, Mao Y, Dai R, Nakayama M, Kari JA, El Desoky S, Shalaby M, Eid LA, Awad HS, Tasic V, Mane SM, Lifton RP, Baum MA, Shril S, Estrada CR, Hildebrandt F. Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models. Am J Med Genet A. 2022 May;188(5):1355-1367. doi: 10.1002/ajmg.a.62644. Epub 2022 Jan 18. PMID: 35040250; PMCID: PMC8995376.
Seltzsam S, Wang C, Zheng B, Mann N, Connaughton DM, Wu CW, Schneider S, Schierbaum L, Kause F, Kolvenbach CM, Nakayama M, Dai R, Ottlewski I, Schneider R, Deutsch K, Buerger F, Klämbt V, Mao Y, Onuchic-Whitford AC, Nicolas-Frank C, Yousef K, Pantel D, Lai EW, Salmanullah D, Majmundar AJ, Bauer SB, Rodig NM, Somers MJG, Traum AZ, Stein DR, Daga A, Baum MA, Daouk GH, Tasic V, Awad HS, Eid LA, El Desoky S, Shalaby M, Kari JA, Fathy HM, Soliman NA, Mane SM, Shril S, Ferguson MA, Hildebrandt F. Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT. Genet Med. 2022 Feb;24(2):307-318. doi: 10.1016/j.gim.2021.09.010. Epub 2021 Nov 30. PMID: 34906515; PMCID: PMC8876311.
Burgmaier K, Kilian S, Arbeiter K, Atmis B, Büscher A, Derichs U, Dursun I, Duzova A, Eid LA, Galiano M, Gessner M, Gokce I, Haeffner K, Hooman N, Jankauskiene A, Körber F, Longo G, Massella L, Mekahli D, Miloševski-Lomić G, Nalcacioglu H, Rus R, Shroff R, Stabouli S, Weber LT, Wygoda S, Yilmaz A, Zachwieja K, Zagozdzon I, Dötsch J, Schaefer F, Liebau MC; ARegPKD Consortium. Early childhood height-adjusted total kidney volume as a risk marker of kidney survival in ARPKD. Sci Rep. 2021 Nov 4;11(1):21677. doi: 10.1038/s41598-021-00523-z. PMID: 34737334; PMCID: PMC8568977.
Zheng B, Wang C, Seltzsam S, Schneider S, Schierbaum L, Wu W, Dai R, Connaughton DM, Nakayama M, Mann N, Bauer SB, Awad HS, Eid LA, Tasic V, Shril S, Hildebrandt F. A truncating NRIP1 variant in an Arabic family with congenital anomalies of the kidneys and urinary tract. Am J Med Genet A. 2022 Jan;188(1):310-313. doi: 10.1002/ajmg.a.62502. Epub 2021 Sep 15. PMID: 34525250.
N Shaukat, H Mundi. Application of Artificial Intelligence in pediatric Endocrinology: Current Scenario and Future Perspective. Medical and Research Publications. Volume 3 Issue 2. December 2022.
azir T, Adam N, Afzal S, Bitar MA. Do we need to order prothrombin time/international normalized ratio and activated partial thromboplastin time for children undergoing adenotonsillar surgery? Saudi J Otorhinolaryngol Head Neck Surg 2022;24:56-60.
Jacob A, AlSarhan A, Nazir T, Kherani S, Bitar MA. Beyond Gradenigo syndrome: Facial palsy and cavernous sinus involvement in a young teenage girl. Otolarygology case reports 2022 Mar;22:100396
ulton SA, Groothoff JW, Frishberg Y, Koren MJ, Overcash JS, Sellier-Leclerc AL, Shasha-Lavsky H, Saland JM, Hayes W, Magen D, Moochhala SH, Coenen M, Simkova E, Garrelfs SF, Sas DJ, Meliambro KA, Ngo T, Sweetser MT, Habtemariam BA, Gansner JM, McGregor TL, Lieske JC. Randomized Clinical Trial on the Long-Term Efficacy and Safety of Lumasiran in Patients With Primary Hyperoxaluria Type 1. Kidney Int Rep. 2021 Dec 11;7(3):494-506. doi: 10.1016/j.ekir.2021.12.001. PMID: 35257062; PMCID: PMC8897294.
Pastrnak M, Simkova E, Novak T. Insula activity in resting-state differentiates bipolar from unipolar depression: a systematic review and meta-analysis. Sci Rep. 2021 Aug 20;11(1):16930. doi: 10.1038/s41598-021-96319-2. PMID: 34417487; PMCID: PMC8379217.
Hulton SA, Groothoff JW, Frishberg Y, Koren MJ, Overcash JS, Sellier-Leclerc AL, Shasha-Lavsky H, Saland JM, Hayes W, Magen D, Moochhala SH, Coenen M, Simkova E, Garrelfs SF, Sas DJ, Meliambro KA, Ngo T, Sweetser MT, Habtemariam BA, Gansner JM, McGregor TL, Lieske JC. Randomized Clinical Trial on the Long-Term Efficacy and Safety of Lumasiran in Patients With Primary Hyperoxaluria Type 1. Kidney Int Rep. 2021 Dec 11;7(3):494-506. doi: 10.1016/j.ekir.2021.12.001. PMID: 35257062; PMCID: PMC8897294.
Seltzsam S, Wang C, Zheng B, Mann N, Connaughton DM, Wu CW, Schneider S, Schierbaum L, Kause F, Kolvenbach CM, Nakayama M, Dai R, Ottlewski I, Schneider R, Deutsch K, Buerger F, Klämbt V, Mao Y, Onuchic-Whitford AC, Nicolas-Frank C, Yousef K, Pantel D, Lai EW, Salmanullah D, Majmundar AJ, Bauer SB, Rodig NM, Somers MJG, Traum AZ, Stein DR, Daga A, Baum MA, Daouk GH, Tasic V, Awad HS, Eid LA, El Desoky S, Shalaby M, Kari JA, Fathy HM, Soliman NA, Mane SM, Shril S, Ferguson MA, Hildebrandt F. Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT. Genet Med. 2022 Feb;24(2):307-318. doi: 10.1016/j.gim.2021.09.010. Epub 2021 Nov 30. PMID: 34906515; PMCID: PMC8876311.
Burgmaier K, Kilian S, Arbeiter K, Atmis B, Büscher A, Derichs U, Dursun I, Duzova A, Eid LA, Galiano M, Gessner M, Gokce I, Haeffner K, Hooman N, Jankauskiene A, Körber F, Longo G, Massella L, Mekahli D, Miloševski-Lomić G, Nalcacioglu H, Rus R, Shroff R, Stabouli S, Weber LT, Wygoda S, Yilmaz A, Zachwieja K, Zagozdzon I, Dötsch J, Schaefer F, Liebau MC; ARegPKD Consortium. Early childhood height-adjusted total kidney volume as a risk marker of kidney survival in ARPKD. Sci Rep. 2021 Nov 4;11(1):21677. doi: 10.1038/s41598-021-00523-z. PMID: 34737334; PMCID: PMC8568977.
Burgmaier K, Brinker L, Erger F, Beck BB, Benz MR, Bergmann C, Boyer O, Collard L, Dafinger C, Fila M, Kowalewska C, Lange-Sperandio B, Massella L, Mastrangelo A, Mekahli D, Miklaszewska M, Ortiz-Bruechle N, Patzer L, Prikhodina L, Ranchin B, Ranguelov N, Schild R, Seeman T, Sever L, Sikora P, Szczepanska M, Teixeira A, Thumfart J, Uetz B, Weber LT, Wühl E, Zerres K; ESCAPE Study group; GPN study group, Dötsch J, Schaefer F, Liebau MC; ARegPKD consortium. Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants. Kidney Int. 2021 Sep;100(3):650-659. doi: 10.1016/j.kint.2021.04.019. Epub 2021 Apr 30. PMID: 33940108.
Shadan S, Almarzooqi S, Sultan MA. Behavioral Activation (BA) in the Management of Depression in an Adolescent with Down Syndrome in Dubai. Case Rep Psychiatry. 2021 Sep 18;2021:7112034. doi: 10.1155/2021/7112034. PMID: 34580616; PMCID: PMC8464408.
Nawaz FA, Sultan MA. Low Birth Weight Prevalence in Children Diagnosed with Neurodevelopmental Disorders in Dubai. Glob Pediatr Health. 2021 Jul 8;8:2333794X211031782. doi: 10.1177/2333794X211031782. PMID: 34291128; PMCID: PMC8274076.
Al Sehli SA, Helou M, Sultan MA. The Efficacy of Parent-Child Interaction Therapy (PCIT) in Children with Attention Problems, Hyperactivity, and Impulsivity in Dubai. Case Rep Psychiatry. 2021 Mar 4;2021:5588612. doi: 10.1155/2021/5588612. PMID: 33763275; PMCID: PMC7952151.
Elham A Elgabaly Moustafa Ahmed, Nandu Thalange, Ajay D’Souza, Mireille El Bejjani. Artificial Intelligence in the endocrine clinic: Automated bone age analysis in children from UAE, (July 2021) doi.org/10.36472/msd.v8i7.572
Elham A Elgabaly Moustafa Ahmed, Amani Hilal Al Ysar, Manal Ali Alraees. Thymus is the joker of the Neck in Children. DOI: 10.33552/ASOAJ.2020.04.000541
Homan M, Hauser B, Romano C, Tzivinikos C, Torroni F, Gottrand F, Hojsak I, Dall'Oglio L, Thomson M, Bontems P, Narula P, Furlano R, Oliva S, Amil-Dias J. Percutaneous Endoscopic Gastrostomy in Children: An Update to the ESPGHAN Position Paper. J Pediatr Gastroenterol Nutr. 2021 Sep 1;73(3):415-426. doi: 10.1097/MPG.0000000000003207. PMID: 34155150.
Assa A, Benninga MA, Borrelli O, Broekaert I, de Carpi JM, Saccomani MD, Dolinsek J, Mas E, Miele E, Thomson M, Tzivinikos C; Gastrointestinal Committee of ESPGHAN. Gastrointestinal Perspective of Coronavirus Disease 2019 in Children-An Updated Review. J Pediatr Gastroenterol Nutr. 2021 Sep 1;73(3):299-305. doi: 10.1097/MPG.0000000000003204. PMID: 34117195; PMCID: PMC8373385.
Roberts SE, Morrison-Rees S, Thapar N, Benninga MA, Borrelli O, Broekaert I, Dolinsek J, Martin-de-Carpi J, Mas E, Miele E, Pienar C, Ribes-Koninckx C, Thomassen RA, Thomson M, Tzivinikos C, Thorne K, John A, Williams JG. Systematic review and meta-analysis: the incidence and prevalence of paediatric coeliac disease across Europe. Aliment Pharmacol Ther. 2021 Jul;54(2):109-128. doi: 10.1111/apt.16337. Epub 2021 Jun 11. PMID: 34115894.
Nugud AA, ELkholy NM, Omar AA, Qazi A, Tzivinikos C, Chencheri N, Khan S, Ba'Ath ME. Case Report: Expanding the Phenotypic Spectrum of Timothy Syndrome Type 1: A Sporadic Case With a de novo CACNA1C Pathogenic Variant and Segmental Ileal Dilatation. Front Pediatr. 2021 Apr 27;9:634655. doi: 10.3389/fped.2021.634655. PMID: 33987151; PMCID: PMC8110704.
Madre C, Mašić M, Prlenda-Touilleux D, Brueckner A, Koletzko S, Fabre A, Viala J, Lima R, Enaud R, Lemale J, Kolho KL, Bergoin C, Martinez-Vinson C, Dugelay E, Alvisi P, Aloi M, Miele E, Duclaux-Loras R, Nachury M, Languepin J, Willot S, Dupont-Lucas C, Mosca A, Tzivinikos C, Shamasneh I, Kolaček S, Hugot JP; pediatric GETAID group and the ESPGHAN IBD Porto group. A European Survey on Digestive Perianastomotic Ulcerations, a Rare Crohn-like Disorder Occurring in Children and Young Adults. J Pediatr Gastroenterol Nutr. 2021 Sep 1;73(3):333-337. doi: 10.1097/MPG.0000000000003200. PMID: 34117192.
Mubarak A, Benninga MA, Broekaert I, Dolinsek J, Homan M, Mas E, Miele E, Pienar C, Thapar N, Thomson M, Tzivinikos C, de Ridder L. Diagnosis, Management, and Prevention of Button Battery Ingestion in Childhood: A European Society for Paediatric Gastroenterology Hepatology and Nutrition Position Paper. J Pediatr Gastroenterol Nutr. 2021 Jul 1;73(1):129-136. doi: 10.1097/MPG.0000000000003048. PMID: 33555169.
Nassir N, Bankapur A, Samara B, Ali A, Ahmed A, Inuwa IM, Zarrei M, Safizadeh Shabestari SA, AlBanna A, Howe JL, Berdiev BK, Scherer SW, Woodbury-Smith M, Uddin M. Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells. Hum Genomics. 2021 Nov 21;15(1):68. doi: 10.1186/s40246-021-00368-7. PMID: 34802461; PMCID: PMC8607722.
Saddik B, Hussein A, Albanna A, Elbarazi I, Al-Shujairi A, Temsah MH, Saheb Sharif-Askari F, Stip E, Hamid Q, Halwani R. The psychological impact of the COVID-19 pandemic on adults and children in the United Arab Emirates: a nationwide cross-sectional study. BMC Psychiatry. 2021 May 3;21(1):224. doi: 10.1186/s12888-021-03213-2. PMID: 33941119; PMCID: PMC8090921.
Rahaman MA, Lopa M, Uddin KMF, Baqui MA, Keya SP, Faruk MO, Sarker S, Basiruzzaman M, Islam M, AlBanna A, Jahan N, Chowdhury MAKA, Saha N, Hussain M, Colombi C, O'Rielly D, Woodbury-Smith M, Ghaziuddin M, Rahman MM, Uddin M. An Exploration of Physical and Phenotypic Characteristics of Bangladeshi Children with Autism Spectrum Disorder. J Autism Dev Disord. 2021 Jul;51(7):2392-2401. doi: 10.1007/s10803-020-04703-0. PMID: 32975665.
Begum G, Albanna A, Bankapur A, Nassir N, Tambi R, Berdiev BK, Akter H, Karuvantevida N, Kellam B, Alhashmi D, Sung WWL, Thiruvahindrapuram B, Alsheikh-Ali A, Scherer SW, Uddin M. Long-Read Sequencing Improves the Detection of Structural Variations Impacting Complex Non-Coding Elements of the Genome. Int J Mol Sci. 2021 Feb 19;22(4):2060. doi: 10.3390/ijms22042060. PMID: 33669700; PMCID: PMC7923155.
Jain R, Ramaswamy S, Harilal D, Uddin M, Loney T, Nowotny N, Alsuwaidi H, Varghese R, Deesi Z, Alkhajeh A, Khansaheb H, Alsheikh-Ali A, Abou Tayoun A. Host transcriptomic profiling of COVID-19 patients with mild, moderate, and severe clinical outcomes. Comput Struct Biotechnol J. 2020 Dec 17;19:153-160. doi: 10.1016/j.csbj.2020.12.016. PMID: 33425248; PMCID: PMC7773686.
Xiang J, Sun X, Song N, Ramaswamy S, Abou Tayoun AN, Peng Z. Comprehensive interpretation of single-nucleotide substitutions in GJB2 reveals the genetic and phenotypic landscape of GJB2-related hearing loss. Hum Genet. 2022 Sep 1. doi: 10.1007/s00439-022-02479-0. Epub ahead of print. PMID: 36048236.
Walid Abuhammour, Lemis Yavuz, Ruchi Jain, Khawla Abu Hammour, Ghalia F. Al-Hammouri, MahaEl Naofal, Nour Halabi, Sawsan Yaslam, Sathishkumar Ramaswamy, Alan Taylor, Deena Wafadari, Ali Alsarhan, Hamda Khansaheb, Zulfa Omar Deesi, Rupa Murthy Varghese, Mohammed Uddin, Hanan Al Suwaidi, Abdulmajeed Alkhaja, Laila Mohamed AlDabal, Tom Loney, Norbert Nowotny, Abdulla Al Khayat, Alawi Alsheikh-Ali, Ahmad Abou Tayoun. Genomic and phenotypic characterization of Multisystem Inflammatory Syndrome in Children (MIS-C): a prospective multicenter study from the Middle East. doi: doi.org/10.1101/2021.11.30.21267109.
Camp JV, Weidinger P, Ramaswamy S, Kannan DO, Osman BM, Kolodziejek J, Karuvantevida N, Abou Tayoun A, Loney T, Nowotny N. Association of Dromedary Camels and Camel Ticks with Reassortant Crimean-Congo Hemorrhagic Fever Virus, United Arab Emirates. Emerg Infect Dis. 2021 Sep;27(9):2471-2474. doi: 10.3201/eid2709.210299. PMID: 34424177; PMCID: PMC8386785.
Patel MJ, DiStefano MT, Oza AM, Hughes MY, Wilcox EH, Hemphill SE, Cushman BJ, Grant AR, Siegert RK, Shen J, Chapin A, Boczek NJ, Schimmenti LA, Nara K, Kenna M, Azaiez H, Booth KT, Avraham KB, Kremer H, Griffith AJ, Rehm HL, Amr SS, Tayoun ANA; ClinGen Hearing Loss Clinical Domain Working Group. Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss. Genet Med. 2021 Nov;23(11):2208-2212. doi: 10.1038/s41436-021-01254-2. Epub 2021 Jul 6. PMID: 34230634; PMCID: PMC8556313.
Weidinger P, Kolodziejek J, Camp JV, Loney T, Kannan DO, Ramaswamy S, Tayoun AA, Corman VM, Nowotny N. MERS-CoV in sheep, goats, and cattle, United Arab Emirates, 2019: Virological and serological investigations reveal an accidental spillover from dromedaries. Transbound Emerg Dis. 2022 Sep;69(5):3066-3072. doi: 10.1111/tbed.14306. Epub 2021 Sep 8. PMID: 34463031.
Sancho-Shimizu V, Brodin P, Cobat A, Biggs CM, Toubiana J, Lucas CL, Henrickson SE, Belot A; MIS-C@CHGE, Tangye SG, Milner JD, Levin M, Abel L, Bogunovic D, Casanova JL, Zhang SY. SARS-CoV-2-related MIS-C: A key to the viral and genetic causes of Kawasaki disease? J Exp Med. 2021 Jun 7;218(6):e20210446. doi: 10.1084/jem.20210446. PMID: 33904890; PMCID: PMC8080850.
Rentas S, Abou Tayoun A. Utility of droplet digital PCR and NGS-based CNV clinical assays in hearing loss diagnostics: current status and future prospects. Expert Rev Mol Diagn. 2021 Feb;21(2):213-221. doi: 10.1080/14737159.2021.1887731. Epub 2021 Feb 26. PMID: 33554673.
Mathew A, Dirawi M, Abou Tayoun A, Popatia R. A Rare Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Mutation Associated With Typical Cystic Fibrosis in an Arab Child. Cureus. 2021 Feb 24;13(2):e13526. doi: 10.7759/cureus.13526. PMID: 33786233; PMCID: PMC7994952.
Mathew A, Dirawi M, Abou Tayoun A, Popatia R. A Rare Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Mutation Associated With Typical Cystic Fibrosis in an Arab Child. Cureus. 2021 Feb 24;13(2):e13526. doi: 10.7759/cureus.13526. PMID: 33786233; PMCID: PMC7994952.
Fathalla BM, Alsarhan A, Afzal S, El Naofal M, Abou Tayoun A. The genomic landscape of pediatric rheumatology disorders in the Middle East. Hum Mutat. 2021 Apr;42(4):e1-e14. doi: 10.1002/humu.24165. Epub 2021 Feb 7. PMID: 33440462.
Taylor A, Alloub Z, Tayoun AA. A Simple Practical Guide to Genomic Diagnostics in a Pediatric Setting. Genes (Basel). 2021 May 27;12(6):818. doi: 10.3390/genes12060818. PMID: 34071827; PMCID: PMC8228870.
Zhang Q, Cobat A, Bastard P, Notarangelo LD, Su HC, Abel L, Casanova JL; COVID Human Genetic Effort (CHGE). Association of rare predicted loss-of-function variants of influenza-related type I IFN genes with critical COVID-19 pneumonia. J Clin Invest. 2021 Aug 2;131(15):e152474. doi: 10.1172/JCI152474. PMID: 34166232; PMCID: PMC8321559.
Bastard P, Gervais A, Le Voyer T, Rosain J, Philippot Q, Manry J, Michailidis E, Hoffmann HH, Eto S, Garcia-Prat M, Bizien L, Parra-Martínez A, Yang R, Haljasmägi L, Migaud M, Särekannu K, Maslovskaja J, de Prost N, Tandjaoui-
Camp JV, Weidinger P, Ramaswamy S, Kannan DO, Osman BM, Kolodziejek J, Karuvantevida N, Abou Tayoun A, Loney T, Nowotny N. Association of Dromedary Camels and Camel Ticks with Reassortant Crimean-Congo Hemorrhagic Fever Virus, United Arab Emirates. Emerg Infect Dis. 2021 Sep;27(9):2471-2474. doi: 10.3201/eid2709.210299. PMID: 34424177; PMCID: PMC8386785.
Nassir N, Tambi R, Bankapur A, Al Heialy S, Karuvantevida N, Khansaheb HH, Zehra B, Begum G, Hameid RA, Ahmed A, Deesi Z, Alkhajeh A, Uddin KMF, Akter H, Safizadeh Shabestari SA, Almidani O, Islam A, Gaudet M, Kandasamy RK, Loney T, Tayoun AA, Nowotny N, Woodbury-Smith M, Rahman P, Kuebler WM, Yaseen Hachim M, Casanova JL, Berdiev BK, Alsheikh-Ali A, Uddin M. Single-cell transcriptome identifies FCGR3B upregulated subtype of alveolar macrophages in patients with critical COVID-19. iScience. 2021 Sep 24;24(9):103030. doi: 10.1016/j.isci.2021.103030. Epub 2021 Aug 25. PMID: 34458692; PMCID: PMC8384759.
Tayoun AA. Advances in Molecular Pathology. 2021/11/0. Elsevier.
Patel MJ, DiStefano MT, Oza AM, Hughes MY, Wilcox EH, Hemphill SE, Cushman BJ, Grant AR, Siegert RK, Shen J, Chapin A, Boczek NJ, Schimmenti LA, Nara K, Kenna M, Azaiez H, Booth KT, Avraham KB, Kremer H, Griffith AJ, Rehm HL, Amr SS, Tayoun ANA; ClinGen Hearing Loss Clinical Domain Working Group. Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss. Genet Med. 2021 Nov;23(11):2208-2212. doi: 10.1038/s41436-021-01254-2. Epub 2021 Jul 6. PMID: 34230634; PMCID: PMC8556313.
Peng J, Xiang J, Jin X, Meng J, Song N, Chen L, Abou Tayoun A, Peng Z. VIP-HL: Semi-automated ACMG/AMP variant interpretation platform for genetic hearing loss. Hum Mutat. 2021 Dec;42(12):1567-1575. doi: 10.1002/humu.24277. Epub 2021 Sep 2. PMID: 34428318.
Arkin LM, Moon JJ, Tran JM, Asgari S, O'Farrelly C, Casanova JL, Cowen EW, Mays JW, Singh AM, Drolet BA; COVID Human Genetic Effort. From Your Nose to Your Toes: A Review of Severe Acute Respiratory Syndrome Coronavirus 2 Pandemic‒Associated Pernio. J Invest Dermatol. 2021 Dec;141(12):2791-2796. doi: 10.1016/j.jid.2021.05.024. Epub 2021 Jul 15. PMID: 34561087; PMCID: PMC8279931.
Abou Tayoun AN, Fakhro KA, Alsheikh-Ali A, Alkuraya FS. Genomic medicine in the Middle East. Genome Med. 2021 Nov 23;13(1):184. doi: 10.1186/s13073-021-01003-9. PMID: 34814937; PMCID: PMC8611926.
Hansen R, Sanderson IR, Muhammed R, Allen S, Tzivinikos C, Henderson P, Gervais L, Jeffery IB, Mullins DP, O'Herlihy EA, Weinberg JD, Kitson G, Russell RK, Wilson DC. A Double-Blind, Placebo-Controlled Trial to Assess Safety and Tolerability of (Thetanix) Bacteroides thetaiotaomicron in Adolescent Crohn's Disease. Clin Transl Gastroenterol. 2020 Dec 18;12(1):e00287. doi: 10.14309/ctg.0000000000000287. PMID: 33464732; PMCID: PMC7752678.
Miele E, Benninga MA, Broekaert I, Dolinsek J, Mas E, Orel R, Pienar C, Ribes-Koninckx C, Thomassen RA, Thomson M, Tzivinikos C, Thapar N. Safety of Thiopurine Use in Paediatric Gastrointestinal Disease. J Pediatr Gastroenterol Nutr. 2020 Aug;71(2):156-162. doi: 10.1097/MPG.0000000000002802. PMID: 32520827.
Broekaert IJ, Jahnel J, Moes N, van der Doef H, Hojsak I, Tzivinikos C. Evaluation of a Europe-wide Survey on Paediatric Nutrition Training. J Pediatr Gastroenterol Nutr. 2020 Jun;70(6):868-872. doi: 10.1097/MPG.0000000000002681. PMID: 32443050.
Roberts SE, Thorne K, Thapar N, Broekaert I, Benninga MA, Dolinsek J, Mas E, Miele E, Orel R, Pienar C, Ribes-Koninckx C, Thomson M, Tzivinikos C, Morrison-Rees S, John A, Williams JG. A Systematic Review and Meta-analysis of Paediatric Inflammatory Bowel Disease Incidence and Prevalence Across Europe. J Crohns Colitis. 2020 Sep 7;14(8):1119-1148. doi: 10.1093/ecco-jcc/jjaa037. PMID: 32115645.
Tourlamain G, Garcia-Puig R, Gutiérrez-Junquera C, Papadopoulou A, Roma E, Kalach N, Oudshoorn J, Sokollik C, Karolewska-Bochenek K, Oliva S, Strisciuglio C, Bauraind O, Auth MK, Thomson M, Otte S, Rok O, Dias JA, Tzivinikos C, Urbonas V, Kostovski A, Zevit N, Velde SV; ESPGHAN EGID Working group. Differences in Management of Eosinophilic Esophagitis in Europe: An Assessment of Current Practice. J Pediatr Gastroenterol Nutr. 2020 Jul;71(1):83-90. doi: 10.1097/MPG.0000000000002672. PMID: 32097371.
Pienar C, Benninga MA, Broekaert IJ, Dolinsek J, Mas E, Miele E, Orel R, Ribes-Koninckx C, Thomassen RA, Thomson M, Tzivinikos C, Thapar N. Drugs in Focus: The Use of Racecadotril in Paediatric Gastrointestinal Disease. J Pediatr Gastroenterol Nutr. 2020 Feb;70(2):162-164. doi: 10.1097/MPG.0000000000002574. PMID: 31978009.
Davies M, Dodd S, Coultate M, Ross A, Pears G, Gnaneswaran B, Tzivinikos C, Konidari A, Cheng J, Auth MK, Cameron F, Tamhne S, Renji E, Nair M, Baillie C, Collins P, Smith PJ, Subramanian S. From Paris to Montreal: disease regression is common during long term follow-up of paediatric Crohn's disease. Scand J Gastroenterol. 2020 Feb;55(2):148-153. doi: 10.1080/00365521.2019.1710765. Epub 2020 Jan 12. PMID: 31928099.
Broekaert I, Tzivinikos C, Narula P, Antunes H, Dias JA, van der Doef H, Isoldi S, Norsa L, Romano C, Scheers I, Silbermintz A, Tavares M, Torroni F, Urs A, Thomson M. European Society for Paediatric Gastroenterology, Hepatology and Nutrition Position Paper on Training in Paediatric Endoscopy. J Pediatr Gastroenterol Nutr. 2020 Jan;70(1):127-140. doi: 10.1097/MPG.0000000000002496. PMID: 31799965.
Sazonovs A, Kennedy NA, Moutsianas L, Heap GA, Rice DL, Reppell M, Bewshea CM, Chanchlani N, Walker GJ, Perry MH, McDonald TJ, Lees CW, Cummings JRF, Parkes M, Mansfield JC, Irving PM, Barrett JC, McGovern D, Goodhand JR, Anderson CA, Ahmad T; PANTS Consortium. HLA-DQA1*05 Carriage Associated With Development of Anti-Drug Antibodies to Infliximab and Adalimumab in Patients With Crohn's Disease. Gastroenterology. 2020 Jan;158(1):189-199. doi: 10.1053/j.gastro.2019.09.041. Epub 2019 Oct 7. PMID: 31600487.
Wu C, Zhao X, Welsh M, Costello K, Cao K, Abou Tayoun A, Li M, Sarmady M. Using Machine Learning to Identify True Somatic Variants from Next-Generation Sequencing. Clin Chem. 2020 Jan 1;66(1):239-246. doi: 10.1373/clinchem.2019.308213. PMID: 31672855.
Mahfouz NA, Kizhakkedath P, Ibrahim A, El Naofal M, Ramaswamy S, Harilal D, Qutub Y, Uddin M, Taylor A, Alloub Z, AlBanna A, Abuhammour W, Fathalla B, Tayoun AA. Utility of clinical exome sequencing in a complex Emirati pediatric cohort. Comput Struct Biotechnol J. 2020 Apr 22;18:1020-1027. doi: 10.1016/j.csbj.2020.04.013. PMID: 32382396; PMCID: PMC7200174.
Saheb Sharif-Askari N, Saheb Sharif-Askari F, Alabed M, Tayoun AA, Loney T, Uddin M, Senok A, Al Heialy S, Hamoudi R, Kashour T, Alsheikh-Ali A, Hamid Q, Halwani R. Effect of Common Medications on the Expression of SARS-CoV-2 Entry Receptors in Kidney Tissue. Clin Transl Sci. 2020 Nov;13(6):1048-1054. doi: 10.1111/cts.12862. Epub 2020 Aug 29. PMID: 32799423; PMCID: PMC7461457.
Jacob A, Habeeb SM, Herlitz L, Simkova E, Shekhy JF, Taylor A, Abuhammour W, Abou Tayoun A, Bitzan M. Case Report: CMV-Associated Congenital Nephrotic Syndrome. Front Pediatr. 2020 Nov 27;8:580178. doi: 10.3389/fped.2020.580178. PMID: 33330277; PMCID: PMC7728737.
Harilal D, Ramaswamy S, Loney T, Suwaidi HA, Khansaheb H, Alkhaja A, Varghese R, Deesi Z, Nowotny N, Alsheikh-Ali A, Abou Tayoun A. SARS-CoV-2 Whole Genome Amplification and Sequencing for Effective Population-Based Surveillance and Control of Viral Transmission. Clin Chem. 2020 Nov 1;66(11):1450-1458. doi: 10.1093/clinchem/hvaa187. PMID: 32715310; PMCID: PMC7454455.
Alm E, Broberg EK, Connor T, Hodcroft EB, Komissarov AB, Maurer-Stroh S, Melidou A, Neher RA, O'Toole Á, Pereyaslov D; WHO European Region sequencing laboratories and GISAID EpiCoV group; WHO European Region sequencing laboratories and GISAID EpiCoV group*. Geographical and temporal distribution of SARS-CoV-2 clades in the WHO European Region, January to June 2020. Euro Surveill. 2020 Aug;25(32):2001410. doi: 10.2807/1560-7917.ES.2020.25.32.2001410. Erratum in: Euro Surveill. 2020 Aug;25(33): PMID: 32794443; PMCID: PMC7427299.
Rentas S, Rathi KS, Kaur M, Raman P, Krantz ID, Sarmady M, Tayoun AA. Diagnosing Cornelia de Lange syndrome and related neurodevelopmental disorders using RNA sequencing. Genet Med. 2020 May;22(5):927-936. doi: 10.1038/s41436-019-0741-5. Epub 2020 Jan 8. PMID: 31911672.
Abou Tayoun A, Mason-Suares H. Considerations for whole exome sequencing unique to prenatal care. Hum Genet. 2020 Sep;139(9):1149-1159. doi: 10.1007/s00439-019-02085-7. Epub 2019 Nov 7. PMID: 31701237.
Al Heialy S, Hachim MY, Senok A, Gaudet M, Abou Tayoun A, Hamoudi R, Alsheikh-Ali A, Hamid Q. Regulation of Angiotensin- Converting Enzyme 2 in Obesity: Implications for COVID-19. Front Physiol. 2020 Sep 18;11:555039. doi: 10.3389/fphys.2020.555039. PMID: 33071815; PMCID: PMC7531362.
Tayoun AA, Loney T, Khansaheb H, Ramaswamy S, Harilal D, Deesi ZO, Varghese RM, Al Suwaidi H, Alkhajeh A, AlDabal LM, Uddin M, Hamoudi R, Halwani R, Senok A, Hamid Q, Nowotny N, Alsheikh-Ali A. Multiple early introductions of SARS-CoV-2 into a global travel hub in the Middle East. Sci Rep. 2020 Oct 20;10(1):17720. doi: 10.1038/s41598-020-74666-w. PMID: 33082405; PMCID: PMC7575574.
Saheb Sharif-Askari N, Saheb Sharif-Askari F, Alabed M, Tayoun AA, Loney T, Uddin M, Senok A, Al Heialy S, Hamoudi R, Kashour T, Alsheikh-Ali A, Hamid Q, Halwani R. Effect of Common Medications on the Expression of SARS-CoV-2 Entry Receptors in Kidney Tissue. Clin Transl Sci. 2020 Nov;13(6):1048-1054. doi: 10.1111/cts.12862. Epub 2020 Aug 29. PMID: 32799423; PMCID: PMC7461457.
Fang Kuan Chiou, Christina Ong, Kong Boo Phua, Fares Chedid, and Ajmal Kader. Conjugated hyperbilirubinemia presenting in first fourteen days in term neonates. World J Hepatol. 2017 Sep; 9(26): 1108–1114.
Corder JP, Al Ahbabi FJS, Al Dhaheri HS, Chedid F. Demographics and co-occurring conditions in a clinic-based cohort with Down syndrome in the United Arab Emirates. Am J Med Genet, 2017 Sep; 173(9):2395-2407.
Shireen Mreish , Walid Kaplan, and Fares Chedid. Effect of Growth Hormone on Final Height in Children with Idiopathic Short Stature: A UAE, Eastern Region Experience. Oman Medical Journal. 2017 Dec; 32 (6): 403-6.
Narchi H, Chedid F. Neurally adjusted ventilator assist in very low birth weight infants: Current status. World J Methodol. 2015, 26;5(2):62-7.
Ajay Prashanth Dsouza, Munire Gundogan, Fares Chedid, Sashin Tandon, Pawan Subhash Kashyape. MR spectroscopy in non-ketotic hyperglycynemia. In press at the American Journal of Neuroradiology. January 2017.
A diagnostic dilemma of two rare stroke mimics in a pediatric patient. Nidheesh Cheeyancheri Chencheri, Pawan Subhash Kashyape, Sonia Khamis, Maha Mohammed Elamin Agna. Int J Contemp Pediatr. 2017 Sep;4(5):1886-1889.
Haitham El Bashir, Mariam M El Hawli, Hanaa Masoud, Afnan Albahri, Mostafa Refaat and VishwanathaKini. Brain White Matter Changes in Four Patients with Classical Homocystinuria: Two of Them were Reversible. Acad J Ped Neonatol 1(5) : AJPN.MS.ID.555571 (2016).
John-John Cabibihan, Hifza Javed, Mohammed Aldosari, Thomas W. Frazier and Haitham Elbashir. Sensing Technologies for Autism Spectrum Disorder Screening and Intervention. Sensors 2017, 17(1), 46; doi:10.3390/s17010046.
Deborah Christie, Harunor Rashid, Haitham El-Bashir, Faye Sweeney, Tim Shore, Robert Booy, Russell M. Viner. Impact of meningitis on intelligence and development: A systematic review and meta-analysis. PLoS One. 2017; 12(8): e0175024. Published online 2017 Aug 24. doi: 10.1371/journal.pone.0175024.
Barazi R, Bawab I, Dunia G, Bitar MA. The Use of Topical Intranasal Antibiotics in Pediatric Chronic Rhinosinusitis. Ann Otolaryngol Rhinol 2016; 3(12): 1150-5. DOI: 10.4172/2324-8785.1000306.
Bitar MA, Nassar J, Dana R. Is the effect of topical intranasal steroids on obstructive adenoid transient or long-lasting? Case series and systematic review of literature. J Laryngol Otol. 2016 Apr;130(4):357-62.
Barazi R, Adib H, Ziadeh G, Khalifeh E, Tamim H, Bitar MA. (2017) The Effect of Desloratadine on Chronic Otitis Media with Effusion in Children Requiring Grommet. J Otol Rhinol. 2016; 6:1.
Bitar MA, Rameh C, Ataya N, Najarian A, Chakhtoura M, Abdelnour A. Alterations in humoral immunity after partial vs. total tonsillectomy: a pilot study and systematic review of literature. J Pediatr Rev. 2016July;4(2):e6214.
Bitar MA, Al Barazi R, Barakeh R. Airway reconstruction: review of an approach to the advanced-stagelaryngotracheal stenosis. Braz J Otorhinolaryngol. 2017 May – Jun;83(3):299-312.
Bitar MA,Cheng A. (2016) Nasal discharge – Chap 24 – pp249-261 in Symptom oriented otolaryngology Head & Neck Surgery, vol 3 Otology & Pediatrics. Jaypee, the Heath Sciences Publisher
Zaabi AAl, Mahboub BH, Mayank GV, Iqbal MN, Deepa Vats. Chronic Obstructive Pulmonary Disease in Middle East and UAE: An Unrecognized Underestimated Epidemic. J Lung Pulm Respir Res 2016; 3(4): 00089. DOI: 10.15406/jlprr.2016.03.00089
Mayank G. Vats, Bassam H. Mahboub, Hassan Al Hariri, Ashraf Al Zaabi, and Deepa Vats. Obesity and Sleep-Related Breathing Disorders in Middle East and UAE. Canadian Respiratory Journal Volume 2016, Article ID 9673054, 5 pages http://dx.doi.org/10.1155/2016/9673054
Severe aortic coarctation incidentally discovered in a young university student. Hazem Muhammed AlMeselmani, Mahmoud AlSoufi, Mohammed Samir Elwan, Amer Albawab, Mohamed Elfadel Musa. Hamdan Medical Journal.
Al Soufi, M & Asrawi S. (2017) Infantail Kawasaki with Coronary Arteries Aneurysm. Journal of Cardiology & Cardiovascular Therapy, 2017; 8(5): 555746. Doi: 10.19080/JOCCT.2017.08.555746
Patricia A. Hickey, Jean A. Connor, Kotturathu M. Cherian,Kathy Jenkins,Kaitlin Doherty,Haibo Zhang, Michael Gaies, Sara Pasquali, Sarah Tabbutt, James D. St. Louis, George E. Sarris, Hiromi Kurosawa, Richard A. Jonas, Nestor Sandoval, Christo I. Tchervenkov, Jeffery P. Jacobs, Giovanni Stellin, James K. Kirklin, RajnishGarg, David F. Vener. Cardiology in the Young. (2017; 27(Suppl. 6), S61–S68.
Sultan MA, Courtney DB. Adjunctive Trazodone and Depression Outcome in Adolescents Treated with Serotonin Re-uptake Inhibitors. Journal of the Canadian Academy of Child and Adolescent Psychiatry. 2017;26(3):233.
Ammar Albanna, Khalid Bazaid, Muhammad Waqar Azeem, Obsessive-Compulsive Disorder in Children and Adolescents: An Overview. Psychiatric Annals. 2017;47(10):512-518.
Mohamed B Abdelraheem. Acute kidney injury in low- and middle-income countries: investigations, management and prevention. Paediatrics and International Child Health. 2017 Dec 37 (4); 269- 272
WalidAbuhammour, Khawla Abu Hammour, et al. Evaluation of Risk Factors Affecting Parental Knowledge and Attitude toward Antibiotic Use in Children with Upper Respiratory Tract Infections. https://www.sciencedirect.com/science/article/pii/S1876382017302433. European Journal of Integrative Medicine. Dec 2017.
Walid Abuhammour, Nida Yousef, Sarmad Alhamadani. Diphtheria Monograph. http://bestpractice.bmj.com/topics/en-gb/738. British Medical Journal. British Medical Journal (BMJ).2017
Samah Alasrawi and Lemis Yavus (2018) Chronic Upper Airway Obstruction as a Main Cause of Pulmonary Hypertension. BAOJ Pediat 4: 52.
Lemis Yavuz, Sinan Yavuz and Samah Alasrawi (2018) The Life-Threatening Case of Rhabdomyolysis Caused by A LIPIN1 Deficiency. BAOJ pediat 4: 053.
Sami S. Amr, Elissa Murphy, Elizabeth Duffy, Rojeen Niazi, Jorune Balciuniene, Minjie Luo, Heidi Rehm, Ahmad N. Abou Tayoun: Allele-Specific Droplet Digital PCR Combined with a Next-Generation Sequencing-Based Algorithm for Diagnostic Copy Number Analysis in Genes with High Homology: Proof of concept Using Stereocilin. Clinical Chemistry 64(4): 705-714, March 2018.
Rojeen Niazi, Michael A. Gonzalez, Jorune Balciuniene, Perry Evans, Mahdi Sarmady, Ahmad N. Abou Tayoun: ExomeSlicer: a resource for the development and validation of clinical exome-based panels. Considerations and proof of concept using Epilepsy panel. The Journal of Molecular Diagnostics, In Press.
Marina DiStefano, Sarah Hemphill, Brandon Cushman, Mark Bowser, Elizabeth Hynes, Andrew Grant, Rebbecca Siegert, Andrea Oza, Michael Gonzalez, Sami Amr, Heidi Rehm, Ahmad N. Abou Tayoun: Curating clinically relevant transcripts for the interpretation of sequence variants. The Journal of Molecular Diagnostics,In Press.
Edward Romasko, Elizabeth DeChene, Jorune Balciuniene, Gozde Akgumus, Ingo Helbig, Jennifer Tarpinian, Beth Keena, Maria Vogiatzi, Elaine Zackai, Kosuke Izumi, Shavonne Massey*, Ahmad N. Abou Tayoun*: PCDH19-related epilepsy in a male with Klinefelter syndrome: Additional evidence supporting PCDH19cellular interference disease mechanism. Epilepsy Research, 145:89-92, September 2018.
Andrea Oza, Marina DiStefano, Sarah Hemphill, Brandon Cushman, Andrew Grant, Rebecca Siegert, Jun Shen, Alex Chapin, Nicole Boczek, Lisa Schimmenti, Jaclyn Murry, Linda Hasadsri, Kiyomitsu Nara, Margaret Kenna, Kevin Booth, Hela Azaiez, Andrew Griffith, Karen Avraham, Hannie Kremer, Heidi Rehm, Sami Amr, Ahmad N. Abou Tayoun, on behalf of The ClinGen Hearing Loss Expert Workgroup: Expert Specification of the ACMG/AMP Variant Interpretation Guidelines for Genetic Hearing Loss. Human Mutation, In Press.
Ahmad N. Abou Tayoun, Tina Pesaran, Marina DiStefano, Andrea Oza, Heidi Rehm, Leslie Biesecker, Steven Harrison, on behalf of the ClinGen Sequence Variant Interpretation Working Group: Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant Criterion. Human Mutation, In Press.
Ahmad N. Abou Tayoun, Nancy B. Spinner, Heidi L. Rehm, Robert C. Green, Diana W. Bianchi: Prenatal DNA Sequencing: Clinical, Counseling, and Diagnostic Laboratory Considerations. Prenatal Diagnosis 38(1):26-32, Jan 2018.
Naif A.M. Almontashiri, Abdulrahman Alswaid, Andrea Oza, Khalid A. Al-Mazrou, Omnia Elrehim, Ahmad N. Abou Tayoun, Heidi L. Rehm, Sami S. Amr: Recurrent variants in OTOF are significant contributors to prelingual nonsydromic hearing loss in Saudi patients. Genetics in Medicine 20(5): 536-544, May 2018.
Qiaoning Guan, Jorune Balciuniene, Kajia Cao, Zhiqian Fan, Sawona Biswas, Alisha Wilkens, Daniel J. Gallo, Emma Bedoukian, Jennifer Tarpinian, Pushkala Jayaraman, Mahdi Sarmady, Matthew Dulik, Avni Santani, Nancy Spinner, Ahmad N. Abou Tayoun, Ian D. Krantz, Laura K. Conlin, Minjie Luo: AUDIOME: a tiered exome sequencing-based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss. Genetics in Medicine, In press.