Royal Brisbane and Women's Hospital
The Royal Brisbane and Women's Hospital is a tertiary hospital located in Herston, a suburb of Brisbane, Queensland, Australia.
1: Johansen SK, Maclachlan L, Hillier R, Taylor G, Mellor R, Rathleff MS, Vicenzino B. Exploring patients' and physiotherapists' visions on modelling treatments and optimising self-management strategies for patellofemoral pain: A future workshop approach. Musculoskelet Sci Pract. 2022 Apr 18;60:102567. doi: 10.1016/j.msksp.2022.102567. Epub ahead of print. PMID: 35468529.
2: Hays LMC, Udy A, Adamides AA, Anstey JR, Bailey M, Bellapart J, Byrne K, Cheng A, Jamie Cooper D, Drummond KJ, Haenggi M, Jakob SM, Higgins AM, Lewis PM, Hunn MK, McNamara R, Menon DK, Murray L, Reddi B, Trapani T, Vallance S, Young PJ, Diaz-Arrastia R, Shutter L, Murray PT, Curley GF, Nichol A. Effects of brain tissue oxygen (PbtO2) guided management on patient outcomes following severe traumatic brain injury: A systematic review and meta-analysis. J Clin Neurosci. 2022 Mar 29;99:349-358. doi: 10.1016/j.jocn.2022.03.017. Epub ahead of print. PMID: 35364437.
3: Mills S, Vile A, Campbell R, Chaseling R. Access to imaging investigation and neurosurgical care is delayed in regional Queensland for paediatric primary brain tumours. J Clin Neurosci. 2022 Mar 25;99:336-341. doi: 10.1016/j.jocn.2022.03.012. Epub ahead of print. PMID: 35344871.
4: Donnelly P, McMillen J, Raman V, Jiwrajka M. Intracranial aneurysms: The era of endovascular intervention in Australia. J Clin Neurosci. 2022 Mar;97:127-135. doi: 10.1016/j.jocn.2022.01.013. Epub 2022 Jan 29. PMID: 35104773.
5: van Rheenen W, van der Spek RAA, Bakker MK, van Vugt JJFA, Hop PJ, Zwamborn RAJ, de Klein N, Westra HJ, Bakker OB, Deelen P, Shireby G, Hannon E, Moisse M, Baird D, Restuadi R, Dolzhenko E, Dekker AM, Gawor K, Westeneng HJ, Tazelaar GHP, van Eijk KR, Kooyman M, Byrne RP, Doherty M, Heverin M, Al Khleifat A, Iacoangeli A, Shatunov A, Ticozzi N, Cooper-Knock J, Smith BN, Gromicho M, Chandran S, Pal S, Morrison KE, Shaw PJ, Hardy J, Orrell RW, Sendtner M, Meyer T, Başak N, van der Kooi AJ, Ratti A, Fogh I, Gellera C, Lauria G, Corti S, Cereda C, Sproviero D, D'Alfonso S, Sorarù G, Siciliano G, Filosto M, Padovani A, Chiò A, Calvo A, Moglia C, Brunetti M, Canosa A, Grassano M, Beghi E, Pupillo E, Logroscino G, Nefussy B, Osmanovic A, Nordin A, Lerner Y, Zabari M, Gotkine M, Baloh RH, Bell S, Vourc'h P, Corcia P, Couratier P, Millecamps S, Meininger V, Salachas F, Mora Pardina JS, Assialioui A, Rojas-García R, Dion PA, Ross JP, Ludolph AC, Weishaupt JH, Brenner D, Freischmidt A, Bensimon G, Brice A, Durr A, Payan CAM, Saker-Delye S, Wood NW, Topp S, Rademakers R, Tittmann L, Lieb W, Franke A, Ripke S, Braun A, Kraft J, Whiteman DC, Olsen CM, Uitterlinden AG, Hofman A, Rietschel M, Cichon S, Nöthen MM, Amouyel P; SLALOM Consortium; PARALS Consortium; SLAGEN Consortium; SLAP Consortium, Traynor BJ, Singleton AB, Mitne Neto M, Cauchi RJ, Ophoff RA, Wiedau-Pazos M, Lomen-Hoerth C, van Deerlin VM, Grosskreutz J, Roediger A, Gaur N, Jörk A, Barthel T, Theele E, Ilse B, Stubendorff B, Witte OW, Steinbach R, Hübner CA, Graff C, Brylev L, Fominykh V, Demeshonok V, Ataulina A, Rogelj B, Koritnik B, Zidar J, Ravnik-Glavač M, Glavač D, Stević Z, Drory V, Povedano M, Blair IP, Kiernan MC, Benyamin B, Henderson RD, Furlong S, Mathers S, McCombe PA, Needham M, Ngo ST, Nicholson GA, Pamphlett R, Rowe DB, Steyn FJ, Williams KL, Mather KA, Sachdev PS, Henders AK, Wallace L, de Carvalho M, Pinto S, Petri S, Weber M, Rouleau GA, Silani V, Curtis CJ, Breen G, Glass JD, Brown RH Jr, Landers JE, Shaw CE, Andersen PM, Groen EJN, van Es MA, Pasterkamp RJ, Fan D, Garton FC, McRae AF, Davey Smith G, Gaunt TR, Eberle MA, Mill J, McLaughlin RL, Hardiman O, Kenna KP, Wray NR, Tsai E, Runz H, Franke L, Al-Chalabi A, Van Damme P, van den Berg LH, Veldink JH. Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology. Nat Genet. 2022 Mar;54(3):361. doi: 10.1038/s41588-022-01020-3. Erratum for: Nat Genet. 2021 Dec;53(12):1636-1648. PMID: 35102318; PMCID: PMC8920884.
6: Egerton T, Lawford BJ, Campbell PK, Plinsinga ML, Spiers L, Mackenzie DA, Graham B, Mills K, Eyles J, Knox G, Metcalf B, Maclachlan LR, Besomi M, Dickson C, Abraham C, Vicenzino B, Hodges PW, Hunter DJ, Bennell KL. Expert-Moderated Peer-to-Peer Online Support Group for People With Knee Osteoarthritis: Mixed Methods Randomized Controlled Pilot and Feasibility Study. JMIR Form Res. 2022 Jan 17;6(1):e32627. doi: 10.2196/32627. PMID: 35037880; PMCID: PMC8804962.
7: Raman V, Jiwrajka M, Pollard C, Grieve DA, Alexander H, Redmond M. Emergent craniotomy in rural and regional settings - recommendations from a tertiary neurosurgery unit: surgical technique and future prospects. ANZ J Surg. 2022 Jan 17. doi: 10.1111/ans.17457. Epub ahead of print. PMID: 35037369.
8: Bournazos AM, Riley LG, Bommireddipalli S, Ades L, Akesson LS, Al-Shinnag M, Alexander SI, Archibald AD, Balasubramaniam S, Berman Y, Beshay V, Boggs K, Bojadzieva J, Brown NJ, Bryen SJ, Buckley MF, Chong B, Davis MR, Dawes R, Delatycki M, Donaldson L, Downie L, Edwards C, Edwards M, Engel A, Ewans LJ, Faiz F, Fennell A, Field M, Freckmann ML, Gallacher L, Gear R, Goel H, Goh S, Goodwin L, Hanna B, Harraway J, Higgins M, Ho G, Hopper BK, Horton AE, Hunter MF, Huq AJ, Josephi-Taylor S, Joshi H, Kirk E, Krzesinski E, Kumar KR, Lemckert F, Leventer RJ, Lindsey-Temple SE, Lunke S, Ma A, Macaskill S, Mallawaarachchi A, Marty M, Marum JE, McCarthy HJ, Menezes MP, McLean A, Milnes D, Mohammad S, Mowat D, Niaz A, Palmer EE, Patel C, Patel SG, Phelan D, Pinner JR, Rajagopalan S, Regan M, Rodgers J, Rodrigues M, Roxburgh RH, Sachdev R, Roscioli T, Samarasekera R, Sandaradura SA, Savva E, Schindler T, Shah M, Sinnerbrink IB, Smith JM, Smith RJ, Springer A, Stark Z, Strom SP, Sue CM, Tan K, Tan TY, Tantsis E, Tchan MC, Thompson BA, Trainer AH, van Spaendonck-Zwarts K, Walsh R, Warwick L, White S, White SM, Williams MG, Wilson MJ, Wong WK, Wright DC, Yap P, Yeung A, Young H, Jones KJ, Bennetts B, Cooper ST; Australasian Consortium for RNA Diagnostics. Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants. Genet Med. 2022 Jan;24(1):130-145. doi: 10.1016/j.gim.2021.09.001. Epub 2021 Nov 30. PMID: 34906502.
9: Bellapart J, Nasrallah F, Winearls J, Lassig-Smith M, Stuart J, Boots R, Winter C, Flaws D, Bulmer A, Jones L, Laupland KB. Diagnostic Sensitivity of Plasma Endothelin-1 for Cerebral Vasospasm After Subarachnoid Hemorrhage, a Multicentre Double-Blind Study. J Intensive Care Med. 2021 Dec 13:8850666211056568. doi: 10.1177/08850666211056568. Epub ahead of print. PMID: 34898303.
10: van Rheenen W, van der Spek RAA, Bakker MK, van Vugt JJFA, Hop PJ, Zwamborn RAJ, de Klein N, Westra HJ, Bakker OB, Deelen P, Shireby G, Hannon E, Moisse M, Baird D, Restuadi R, Dolzhenko E, Dekker AM, Gawor K, Westeneng HJ, Tazelaar GHP, van Eijk KR, Kooyman M, Byrne RP, Doherty M, Heverin M, Al Khleifat A, Iacoangeli A, Shatunov A, Ticozzi N, Cooper-Knock J, Smith BN, Gromicho M, Chandran S, Pal S, Morrison KE, Shaw PJ, Hardy J, Orrell RW, Sendtner M, Meyer T, Başak N, van der Kooi AJ, Ratti A, Fogh I, Gellera C, Lauria G, Corti S, Cereda C, Sproviero D, D'Alfonso S, Sorarù G, Siciliano G, Filosto M, Padovani A, Chiò A, Calvo A, Moglia C, Brunetti M, Canosa A, Grassano M, Beghi E, Pupillo E, Logroscino G, Nefussy B, Osmanovic A, Nordin A, Lerner Y, Zabari M, Gotkine M, Baloh RH, Bell S, Vourc'h P, Corcia P, Couratier P, Millecamps S, Meininger V, Salachas F, Mora Pardina JS, Assialioui A, Rojas-García R, Dion PA, Ross JP, Ludolph AC, Weishaupt JH, Brenner D, Freischmidt A, Bensimon G, Brice A, Durr A, Payan CAM, Saker-Delye S, Wood NW, Topp S, Rademakers R, Tittmann L, Lieb W, Franke A, Ripke S, Braun A, Kraft J, Whiteman DC, Olsen CM, Uitterlinden AG, Hofman A, Rietschel M, Cichon S, Nöthen MM, Amouyel P; SLALOM Consortium; PARALS Consortium; SLAGEN Consortium; SLAP Consortium, Traynor BJ, Singleton AB, Mitne Neto M, Cauchi RJ, Ophoff RA, Wiedau-Pazos M, Lomen-Hoerth C, van Deerlin VM, Grosskreutz J, Roediger A, Gaur N, Jörk A, Barthel T, Theele E, Ilse B, Stubendorff B, Witte OW, Steinbach R, Hübner CA, Graff C, Brylev L, Fominykh V, Demeshonok V, Ataulina A, Rogelj B, Koritnik B, Zidar J, Ravnik-Glavač M, Glavač D, Stević Z, Drory V, Povedano M, Blair IP, Kiernan MC, Benyamin B, Henderson RD, Furlong S, Mathers S, McCombe PA, Needham M, Ngo ST, Nicholson GA, Pamphlett R, Rowe DB, Steyn FJ, Williams KL, Mather KA, Sachdev PS, Henders AK, Wallace L, de Carvalho M, Pinto S, Petri S, Weber M, Rouleau GA, Silani V, Curtis CJ, Breen G, Glass JD, Brown RH Jr, Landers JE, Shaw CE, Andersen PM, Groen EJN, van Es MA, Pasterkamp RJ, Fan D, Garton FC, McRae AF, Davey Smith G, Gaunt TR, Eberle MA, Mill J, McLaughlin RL, Hardiman O, Kenna KP, Wray NR, Tsai E, Runz H, Franke L, Al-Chalabi A, Van Damme P, van den Berg LH, Veldink JH. Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology. Nat Genet. 2021 Dec;53(12):1636-1648. doi: 10.1038/s41588-021-00973-1. Epub 2021 Dec 6. Erratum in: Nat Genet. 2022 Mar;54(3):361. PMID: 34873335; PMCID: PMC8648564.
11: Yates CF, Riney K, Malone S, Shah U, Coulthard LG, Campbell R, Wallace G, Wood M. Vagus nerve stimulation: a 20-year Australian experience. Acta Neurochir (Wien). 2022 Jan;164(1):219-227. doi: 10.1007/s00701-021-05046-0. Epub 2021 Nov 10. PMID: 34755209.
12: Winter C, Bjorkman T, Miller S, Nichols P, Cardinal J, O'Rourke P, Ballard E, Nasrallah F, Vegh V. Acute Mountain Sickness Following Incremental Trekking to High Altitude: Correlation With Plasma Vascular Endothelial Growth Factor Levels and the Possible Effects of Dexamethasone and Acclimatization Following Re-exposure. Front Physiol. 2021 Oct 21;12:746044. doi: 10.3389/fphys.2021.746044. PMID: 34744786; PMCID: PMC8567072.
13: Ramanan M, Shorr A, Lipman J. Ventriculitis: Infection or Inflammation. Antibiotics (Basel). 2021 Oct 14;10(10):1246. doi: 10.3390/antibiotics10101246. PMID: 34680826; PMCID: PMC8532926.
14: Babl FE, Rausa VC, Borland ML, Kochar A, Lyttle MD, Phillips N, Gilhotra Y, Dalton S, Cheek JA, Furyk J, Neutze J, Bressan S, Davis GA, Anderson V, Williams A, Oakley E, Dalziel SR, Crowe LM, Hearps SJC. Characteristics of concussion based on patient age and sex: a multicenter prospective observational study. J Neurosurg Pediatr. 2021 Oct 1:1-10. doi: 10.3171/2021.6.PEDS20953. Epub ahead of print. PMID: 34598158.
15: Yoon J, O'Bryan CM, Maclachlan L, Redmond M. Intracranial infected collections and epidemiology in the top end, Northern Territory, Australia. A 10-year case series. ANZ J Surg. 2021 Dec;91(12):2793-2799. doi: 10.1111/ans.17202. Epub 2021 Sep 27. PMID: 34580966.
16: Maclachlan LR, Alexander H, Forrestal D, Novak JI, Redmond M. Properties and Characteristics of Three-Dimensional Printed Head Models Used in Simulation of Neurosurgical Procedures: A Scoping Review. World Neurosurg. 2021 Dec;156:133-146.e6. doi: 10.1016/j.wneu.2021.09.079. Epub 2021 Sep 24. PMID: 34571242.
17: Redmond MJ, Potter TA, Bradley JP. Pilot-administered anaesthesia and the Royal Flying Doctor Service of Australia: An interview with Captain Keith Galloway. Anaesth Intensive Care. 2021 Sep;49(1_suppl):25-28. doi: 10.1177/0310057×211015690. Epub 2021 Sep 23. PMID: 34553611.
18: Huth SF, Cho SM, Robba C, Highton D, Battaglini D, Bellapart J, Suen JY, Li Bassi G, Taccone FS, Arora RC, Whitman G, Fraser JF, Fanning JP. Neurological Manifestations of Coronavirus Disease 2019: A Comprehensive Review and Meta- Analysis of the First 6 Months of Pandemic Reporting. Front Neurol. 2021 Aug 12;12:664599. doi: 10.3389/fneur.2021.664599. PMID: 34456840; PMCID: PMC8387564.
19: Mazzoni D, Xiao Y, Loch-Wilkinson T, Stephens S. Calcium pyrophosphate deposition disease of the spine mimicking septic arthritis. Intern Med J. 2021 Aug;51(8):1357-1358. doi: 10.1111/imj.15452. PMID: 34423534.
20: Mantha S, Coulthard LG, Campbell R. CSF-space volumetric change following posterior fossa decompression in paediatric Chiari type-I malformation: a correlation with outcome. Childs Nerv Syst. 2021 Dec;37(12):3861-3869. doi: 10.1007/s00381-021-05307-4. Epub 2021 Aug 14. PMID: 34390378.
21: Liang ES, Efendy M, Winter C, Coulthard A. Intracranial perianeurysmal cysts: case series and review of the literature. J Neurointerv Surg. 2021 Aug 11:neurintsurg-2021-017807. doi: 10.1136/neurintsurg-2021-017807. Epub ahead of print. PMID: 34380710.
22: Ryder S, Robusto J, Robertson T, Alexander H, Duncan EL. Unilateral hydrocephalus from a gangliocytoma-somatotrophinoma: first reported case. Endocrinol Diabetes Metab Case Rep. 2021 Jul 1;2021:21-0037. doi: 10.1530/EDM-21-0037. Epub ahead of print. PMID: 34236040; PMCID: PMC8284954.
23: Nichols P, Urriola J, Miller S, Bjorkman T, Mahady K, Vegh V, Nasrallah F, Winter C. Blood-brain barrier dysfunction significantly correlates with serum matrix metalloproteinase-7 (MMP-7) following traumatic brain injury. Neuroimage Clin. 2021;31:102741. doi: 10.1016/j.nicl.2021.102741. Epub 2021 Jun 24. PMID: 34225019; PMCID: PMC8264212.
24: Kong BY, Carter C, Nowak AK, Hovey E, Lwin Z, Haghighi N, Gan HK, Sim HW, Ziegler DS, Barton K, Parkinson J, Leonard R, Khasraw M, Foote M. Barriers and potential solutions to international collaboration in neuro-oncology clinical trials: Challenges from the Australian perspective. Asia Pac J Clin Oncol. 2021 Jun 24. doi: 10.1111/ajco.13606. Epub ahead of print. PMID: 34166569.
25: Müller Bark J, Kulasinghe A, Hartel G, Leo P, Warkiani ME, Jeffree RL, Chua B, Day BW, Punyadeera C. Isolation of Circulating Tumour Cells in Patients With Glioblastoma Using Spiral Microfluidic Technology - A Pilot Study. Front Oncol. 2021 Jun 3;11:681130. doi: 10.3389/fonc.2021.681130. PMID: 34150645; PMCID: PMC8210776.
26: Cohen J, Delaney A, Anstey J, Anstey M, Barge D, Bellomo R, Bhardwa V, Brinkerhoff G, Board J, Campain A, Cooper DJ, Di Tanna GL, Finnis M, Fitzgerald E, Flower O, Healey P, Hunt A, Lawrence C, Merthens J, Newby L, Pearson D, Raith E, Robertson Y, Schweikert S, Starr T, Tallott M, van der Poll A, Young P, Udy A. Dysnatremia and 6-Month Functional Outcomes in Critically Ill Patients With Aneurysmal Subarachnoid Hemorrhage: A Prospective Cohort Study. Crit Care Explor. 2021 Jun 8;3(6):e0445. doi: 10.1097/CCE.0000000000000445. PMID: 34124687; PMCID: PMC8189636.
27: Erker C, Lane A, Chaney B, Leary S, Minturn JE, Bartels U, Packer RJ, Dorris K, Gottardo NG, Warren KE, Broniscer A, Kieran MW, Zhu X, White P, Dexheimer PJ, Black K, Asher A, DeWire M, Hansford JR, Gururangan S, Nazarian J, Ziegler DS, Sandler E, Bartlett A, Goldman S, Shih CS, Hassall T, Dholaria H, Bandopadhayay P, Samson Y, Monje M, Fisher PG, Dodgshun A, Parkin S, Chintagumpala M, Tsui K, Gass D, Larouche V, Broxson E, Garcia Lombardi M, Wang SS, Ma J, Hawkins C, Hamideh D, Wagner L, Koschmann C, Fuller C, Drissi R, Jones BV, Leach J, Fouladi M. Characteristics of patients ≥10 years of age with diffuse intrinsic pontine glioma: a report from the International DIPG/DMG Registry. Neuro Oncol. 2022 Jan 5;24(1):141-152. doi: 10.1093/neuonc/noab140. PMID: 34114629; PMCID: PMC8730773.
28: Sexton CE, Anstey KJ, Baldacci F, Barnum CJ, Barron AM, Blennow K, Brodaty H, Burnham S, Elahi FM, Götz J, Jeon YH, Koronyo-Hamaoui M, Landau SM, Lautenschlager NT, Laws SM, Lipnicki DM, Lu H, Masters CL, Moyle W, Nakamura A, Pasinetti GM, Rao N, Rowe C, Sachdev PS, Schofield PR, Sigurdsson EM, Smith K, Srikanth V, Szoeke C, Tansey MG, Whitmer R, Wilcock D, Wong TY, Bain LJ, Carrillo MC. Alzheimer's disease research progress in Australia: The Alzheimer's Association International Conference Satellite Symposium in Sydney. Alzheimers Dement. 2022 Jan;18(1):178-190. doi: 10.1002/alz.12380. Epub 2021 May 31. PMID: 34058063.
29: Brennan FH, Coulthard LG, Alawieh AM, Reiner O, Pekna M. Editorial: Complement in the Development and Regeneration of the Nervous System. Front Immunol. 2021 May 10;12:694810. doi: 10.3389/fimmu.2021.694810. PMID: 34040618; PMCID: PMC8141916.
30: Heron SE, Regan BM, Harris RV, Gardner AE, Coleman MJ, Bennett MF, Grinton BE, Helbig KL, Sperling MR, Haut S, Geller EB, Widdess-Walsh P, Pelekanos JT, Bahlo M, Petrovski S, Heinzen EL, Hildebrand MS, Corbett MA, Scheffer IE, Gécz J, Berkovic SF. Association of <i>SLC32A1</i> Missense Variants With Genetic Epilepsy With Febrile Seizures Plus. Neurology. 2021 May 4;96(18):e2251-e2260. doi: 10.1212/WNL.0000000000011855. Epub 2021 Mar 23. PMID: 34038384; PMCID: PMC8166436.
31: Seymour M, Robertson T, Papacostas J, Morris K, Gillespie J, Norris D, Duncan EL. A woman with visual loss, amenorrhoea and polyuria: the first reported case of nodular lymphocyte-predominant Hodgkin lymphoma presenting with hypopituitarism. Endocrinol Diabetes Metab Case Rep. 2021 May 1;2021:20-0100. doi: 10.1530/EDM-20-0100. Epub ahead of print. PMID: 33982665; PMCID: PMC8185534.
32: Truong Q, Ryder SJ, Gillespie J, Papacostas J, McLeod DSA. Clival prolactinoma masquerading as a chordoma: a case report. Radiol Case Rep. 2021 Apr 1;16(6):1320-1324. doi: 10.1016/j.radcr.2021.02.071. PMID: 33897924; PMCID: PMC8053778.
33: Raymer M, Mitchell L, Window P, Cottrell M, Comans T, O'Leary S. Disparities in Service and Clinical Outcomes in State-Wide Advanced Practice Physiotherapist-Led Services. Healthcare (Basel). 2021 Mar 3;9(3):278. doi: 10.3390/healthcare9030278. PMID: 33802624; PMCID: PMC7999298.
34: Allenby MC, Liang ES, Harvey J, Woodruff MA, Prior M, Winter CD, Alonso- Caneiro D. Detection of clustered anomalies in single-voxel morphometry as a rapid automated method for identifying intracranial aneurysms. Comput Med Imaging Graph. 2021 Apr;89:101888. doi: 10.1016/j.compmedimag.2021.101888. Epub 2021 Feb 25. PMID: 33690001.
35: Faundes V, Goh S, Akilapa R, Bezuidenhout H, Bjornsson HT, Bradley L, Brady AF, Brischoux-Boucher E, Brunner H, Bulk S, Canham N, Cody D, Dentici ML, Digilio MC, Elmslie F, Fry AE, Gill H, Hurst J, Johnson D, Julia S, Lachlan K, Lebel RR, Byler M, Gershon E, Lemire E, Gnazzo M, Lepri FR, Marchese A, McEntagart M, McGaughran J, Mizuno S, Okamoto N, Rieubland C, Rodgers J, Sasaki E, Scalais E, Scurr I, Suri M, van der Burgt I, Matsumoto N, Miyake N, Benoit V, Lederer D, Banka S. Clinical delineation, sex differences, and genotype- phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2. Genet Med. 2021 Jul;23(7):1202-1210. doi: 10.1038/s41436-021-01119-8. Epub 2021 Mar 5. PMID: 33674768; PMCID: PMC8257478.
36: Klionsky DJ, Abdel-Aziz AK, Abdelfatah S, Abdellatif M, Abdoli A, Abel S, Abeliovich H, Abildgaard MH, Abudu YP, Acevedo-Arozena A, Adamopoulos IE, Adeli K, Adolph TE, Adornetto A, Aflaki E, Agam G, Agarwal A, Aggarwal BB, Agnello M, Agostinis P, Agrewala JN, Agrotis A, Aguilar PV, Ahmad ST, Ahmed ZM, Ahumada- Castro U, Aits S, Aizawa S, Akkoc Y, Akoumianaki T, Akpinar HA, Al-Abd AM, Al- Akra L, Al-Gharaibeh A, Alaoui-Jamali MA, Alberti S, Alcocer-Gómez E, Alessandri C, Ali M, Alim Al-Bari MA, Aliwaini S, Alizadeh J, Almacellas E, Almasan A, Alonso A, Alonso GD, Altan-Bonnet N, Altieri DC, Álvarez ÉMC, Alves S, Alves da Costa C, Alzaharna MM, Amadio M, Amantini C, Amaral C, Ambrosio S, Amer AO, Ammanathan V, An Z, Andersen SU, Andrabi SA, Andrade-Silva M, Andres AM, Angelini S, Ann D, Anozie UC, Ansari MY, Antas P, Antebi A, Antón Z, Anwar T, Apetoh L, Apostolova N, Araki T, Araki Y, Arasaki K, Araújo WL, Araya J, Arden C, Arévalo MA, Arguelles S, Arias E, Arikkath J, Arimoto H, 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