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Squalene Synthase Deficiency.

Coman D, Vissers L, Waterham H, Christodoulou J, Wevers RA, Pitt J.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.
2020 Feb 6.


Clinical genomic testing: what matters to key stakeholders?

Best S, Stark Z, Phillips P, Wu Y, Long JC, Taylor N, Braithwaite J, Christodoulou J, Goranitis I.

Eur J Hum Genet. 2020 Feb 5. doi: 10.1038/s41431-020-0576-1. [Epub ahead of print]


Two-dimensional NMR lineshape analysis of single, multiple, zero and double quantum correlation experiments.

Waudby CA, Ouvry M, Davis B, Christodoulou J.

J Biomol NMR. 2020 Jan;74(1):95-109. doi: 10.1007/s10858-019-00297-7. Epub 2020 Jan 8.


Whole exome sequencing reveals a de novo missense variant in EEF1A2 in a Rett syndrome-like patient.

Kaur S, Van Bergen NJ, Gold WA, Eggers S, Lunke S, White SM, Ellaway C, Christodoulou J.

Clin Case Rep. 2019 Nov 12;7(12):2476-2482. doi: 10.1002/ccr3.2511. eCollection 2019 Dec.


Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.

Van Bergen NJ, Guo Y, Al-Deri N, Lipatova Z, Stanga D, Zhao S, Murtazina R, Gyurkovska V, Pehlivan D, Mitani T, Gezdirici A, Antony J, Collins F, Willis MJH, Coban Akdemir ZH, Liu P, Punetha J, Hunter JV, Jhangiani SN, Fatih JM, Rosenfeld JA, Posey JE, Gibbs RA, Karaca E, Massey S, Ranasinghe TG, Sleiman P, Troedson C, Lupski JR, Sacher M, Segev N, Hakonarson H, Christodoulou J.

Brain. 2020 Jan 1;143(1):112-130. doi: 10.1093/brain/awz374.


Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants.

Rius R, Van Bergen NJ, Compton AG, Riley LG, Kava MP, Balasubramaniam S, Amor DJ, Fanjul-Fernandez M, Cowley MJ, Fahey MC, Koenig MK, Enns GM, Sadedin S, Wilson MJ, Tan TY, Thorburn DR, Christodoulou J.

J Clin Med. 2019 Nov 19;8(11). pii: E2020. doi: 10.3390/jcm8112020.


Novel Small Molecules Targeting the Intrinsically Disordered Structural Ensemble of α-Synuclein Protect Against Diverse α-Synuclein Mediated Dysfunctions.

Tóth G, Neumann T, Berthet A, Masliah E, Spencer B, Tao J, Jobling MF, Gardai SJ, Bertoncini CW, Cremades N, Bova M, Ballaron S, Chen XH, Mao W, Nguyen P, Tabios MC, Tambe MA, Rochet JC, Junker HD, Schwizer D, Sekul R, Ott I, Anderson JP, Szoke B, Hoffman W, Christodoulou J, Yednock T, Agard DA, Schenk D, McConlogue L.

Sci Rep. 2019 Nov 18;9(1):16947. doi: 10.1038/s41598-019-52598-4.


The effect of emerging nutraceutical interventions for clinical and biological outcomes in multiple sclerosis: A systematic review.

Marx W, Hockey M, McGuinness AJ, Lane M, Christodoulou J, van der Mei I, Berk M, Dean OM, Taylor B, Broadley S, Lechner-Scott J, Jacka FN, Lucas RM, Ponsonby AL; RELIEF Trial team.

Mult Scler Relat Disord. 2019 Nov 2;37:101486. doi: 10.1016/j.msard.2019.101486. [Epub ahead of print] Review.


Crystal Clear with Active Visualization: Understanding Medication Adherence Among Youth Living with HIV.

Christodoulou J, Abdalian SE, Jones ASK, Christodoulou G, Pentoney SL Jr, Rotheram-Borus MJ.

AIDS Behav. 2019 Nov 6. doi: 10.1007/s10461-019-02721-3. [Epub ahead of print]


A Conjoint Analysis of the Acceptability of Targeted Long-Acting Injectable Antiretroviral Therapy Among Persons Living with HIV in the U.S.

Simoni JM, Tapia K, Lee SJ, Graham SM, Beima-Sofie K, Mohamed ZH, Christodoulou J, Ho R, Collier AC.

AIDS Behav. 2019 Oct 26. doi: 10.1007/s10461-019-02701-7. [Epub ahead of print]


Maternal and child health outcomes in rural South African mothers living with and without HIV.

le Roux KW, Christodoulou J, Davis EC, Stansert Katzen L, Dippenaar E, Tomlinson M, Rotheram-Borus MJ.

AIDS Care. 2019 Oct 22:1-10. doi: 10.1080/09540121.2019.1679706. [Epub ahead of print]


Probing the dynamic stalk region of the ribosome using solution NMR.

Wang X, Kirkpatrick JP, Launay HMM, de Simone A, Häussinger D, Dobson CM, Vendruscolo M, Cabrita LD, Waudby CA, Christodoulou J.

Sci Rep. 2019 Sep 19;9(1):13528. doi: 10.1038/s41598-019-49190-1.


MECP2 Disorders.

Kaur S, Christodoulou J.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.
2001 Oct 3 [updated 2019 Sep 19].


Maternal HIV does not affect resiliency among uninfected/HIV exposed South African children from birth to 5 years of age.

Rotheram-Borus MJ, Christodoulou J, Hayati Rezvan P, Comulada WS, Gordon S, Skeen S, Stewart J, Almirol E, Tomlinson M.

AIDS. 2019 Jun 1;33 Suppl 1:S5-S16. doi: 10.1097/QAD.0000000000002176.


Binding of Monovalent and Bivalent Ligands by Transthyretin Causes Different Short- and Long-Distance Conformational Changes.

Corazza A, Verona G, Waudby CA, Mangione PP, Bingham R, Uings I, Canetti D, Nocerino P, Taylor GW, Pepys MB, Christodoulou J, Bellotti V.

J Med Chem. 2019 Sep 12;62(17):8274-8283. doi: 10.1021/acs.jmedchem.9b01037. Epub 2019 Aug 22.


Genome-wide transcriptomic and proteomic studies of Rett syndrome mouse models identify common signaling pathways and cellular functions as potential therapeutic targets.

Krishnaraj R, Haase F, Coorey B, Luca EJ, Wong I, Boyling A, Ellaway C, Christodoulou J, Gold WA.

Hum Mutat. 2019 Dec;40(12):2184-2196. doi: 10.1002/humu.23887. Epub 2019 Aug 23. Review.


Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing.

Akesson LS, Eggers S, Love CJ, Chong B, Krzesinski EI, Brown NJ, Tan TY, Richmond CM, Thorburn DR, Christodoulou J, Hunter MF, Lunke S, Stark Z.

Eur J Hum Genet. 2019 Dec;27(12):1821-1826. doi: 10.1038/s41431-019-0477-3. Epub 2019 Jul 29.


Nature and Regulation of Protein Folding on the Ribosome.

Waudby CA, Dobson CM, Christodoulou J.

Trends Biochem Sci. 2019 Nov;44(11):914-926. doi: 10.1016/j.tibs.2019.06.008. Epub 2019 Jul 10. Review.


Australian Genomics: A Federated Model for Integrating Genomics into Healthcare.

Stark Z, Boughtwood T, Phillips P, Christodoulou J, Hansen DP, Braithwaite J, Newson AJ, Gaff CL, Sinclair AH, North KN.

Am J Hum Genet. 2019 Jul 3;105(1):7-14. doi: 10.1016/j.ajhg.2019.06.003.


Biparental inheritance of mitochondrial DNA in humans is not a common phenomenon.

Rius R, Cowley MJ, Riley L, Puttick C, Thorburn DR, Christodoulou J.

Genet Med. 2019 Dec;21(12):2823-2826. doi: 10.1038/s41436-019-0568-0. Epub 2019 Jun 7.


An electrochemiluminescence based assay for quantitative detection of endogenous and exogenously applied MeCP2 protein variants.

Steinkellner H, Schönegger A, Etzler J, Kempaiah P, Huber A, Hahn K, Rose K, Duerr M, Christodoulou J, Beribisky AV, Neuhaus W, Laccone F.

Sci Rep. 2019 May 28;9(1):7929. doi: 10.1038/s41598-019-44372-3.


The association of maternal alcohol use and paraprofessional home visiting with children's health: A randomized controlled trial.

Rotheram-Borus MJ, Arfer KB, Christodoulou J, Comulada WS, Stewart J, Tubert JE, Tomlinson M.

J Consult Clin Psychol. 2019 Jun;87(6):551-562. doi: 10.1037/ccp0000408.


Cross-Peaks in Simple Two-Dimensional NMR Experiments from Chemical Exchange of Transverse Magnetisation.

Waudby CA, Frenkiel T, Christodoulou J.

Angew Chem Int Ed Engl. 2019 Jun 24;58(26):8784-8788. doi: 10.1002/anie.201903245. Epub 2019 May 24.


A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein-truncating variant.

Lake NJ, Formosa LE, Stroud DA, Ryan MT, Calvo SE, Mootha VK, Morar B, Procopis PG, Christodoulou J, Compton AG, Thorburn DR.

Hum Mutat. 2019 Jul;40(7):893-898. doi: 10.1002/humu.23753. Epub 2019 Apr 13.


Home Visiting and Antenatal Depression Affect the Quality of Mother and Child Interactions in South Africa.

Christodoulou J, Rotheram-Borus MJ, Bradley AK, Tomlinson M.

J Am Acad Child Adolesc Psychiatry. 2019 Dec;58(12):1165-1174. doi: 10.1016/j.jaac.2019.03.016. Epub 2019 Mar 26.


Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis.

Hayhurst H, de Coo IFM, Piekutowska-Abramczuk D, Alston CL, Sharma S, Thompson K, Rius R, He L, Hopton S, Ploski R, Ciara E, Lake NJ, Compton AG, Delatycki MB, Verrips A, Bonnen PE, Jones SA, Morris AA, Shakespeare D, Christodoulou J, Wesol-Kucharska D, Rokicki D, Smeets HJM, Pronicka E, Thorburn DR, Gorman GS, McFarland R, Taylor RW, Ng YS.

Ann Clin Transl Neurol. 2019 Feb 17;6(3):515-524. doi: 10.1002/acn3.725. eCollection 2019 Mar. Erratum in: Ann Clin Transl Neurol. 2019 Apr 17;6(4):821.


Long-Acting Injectable Antiretroviral Treatment Acceptability and Preferences: A Qualitative Study Among US Providers, Adults Living with HIV, and Parents of Youth Living with HIV.

Simoni JM, Beima-Sofie K, Mohamed ZH, Christodoulou J, Tapia K, Graham SM, Ho R, Collier AC.

AIDS Patient Care STDS. 2019 Mar;33(3):104-111. doi: 10.1089/apc.2018.0198.


Cerebral hypomyelination associated with biallelic variants of FIG4.

Lenk GM, Berry IR, Stutterd CA, Blyth M, Green L, Vadlamani G, Warren D, Craven I, Fanjul-Fernandez M, Rodriguez-Casero V, Lockhart PJ, Vanderver A, Simons C, Gibb S, Sadedin S; Broad Center for Mendelian Genomics, White SM, Christodoulou J, Skibina O, Ruddle J, Tan TY, Leventer RJ, Livingston JH, Meisler MH.

Hum Mutat. 2019 May;40(5):619-630. doi: 10.1002/humu.23720. Epub 2019 Feb 28.


Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy.

van der Knaap MS, Bugiani M, Mendes MI, Riley LG, Smith DEC, Rudinger-Thirion J, Frugier M, Breur M, Crawford J, van Gaalen J, Schouten M, Willems M, Waisfisz Q, Mau-Them FT, Rodenburg RJ, Taft RJ, Keren B, Christodoulou J, Depienne C, Simons C, Salomons GS, Mochel F.

Neurology. 2019 Mar 12;92(11):e1225-e1237. doi: 10.1212/WNL.0000000000007098. Epub 2019 Feb 8. Erratum in: Neurology. 2019 Nov 26;93(22):982.


Diagnosis of 'possible' mitochondrial disease: an existential crisis.

Parikh S, Karaa A, Goldstein A, Bertini ES, Chinnery PF, Christodoulou J, Cohen BH, Davis RL, Falk MJ, Fratter C, Horvath R, Koenig MK, Mancuso M, McCormack S, McCormick EM, McFarland R, Nesbitt V, Schiff M, Steele H, Stockler S, Sue C, Tarnopolsky M, Thorburn DR, Vockley J, Rahman S.

J Med Genet. 2019 Mar;56(3):123-130. doi: 10.1136/jmedgenet-2018-105800. Epub 2019 Jan 25.


Perinatal maternal depression in rural South Africa: Child outcomes over the first two years.

Christodoulou J, Le Roux K, Tomlinson M, Le Roux IM, Katzen LS, Rotheram-Borus MJ.

J Affect Disord. 2019 Mar 15;247:168-174. doi: 10.1016/j.jad.2019.01.019. Epub 2019 Jan 15.


Disorders of riboflavin metabolism.

Balasubramaniam S, Christodoulou J, Rahman S.

J Inherit Metab Dis. 2019 Jul;42(4):608-619. doi: 10.1002/jimd.12058. Epub 2019 Mar 11. Review.


Community context and individual factors associated with arrests among young men in a South African township.

Christodoulou J, Stokes LR, Bantjes J, Tomlinson M, Stewart J, Rabie S, Gordon S, Mayekiso A, Rotheram-Borus MJ.

PLoS One. 2019 Jan 17;14(1):e0209073. doi: 10.1371/journal.pone.0209073. eCollection 2019.


A longitudinal cohort study of rural adolescent vs adult South African mothers and their children from birth to 24 months.

le Roux K, Christodoulou J, Stansert-Katzen L, Dippenaar E, Laurenzi C, le Roux IM, Tomlinson M, Rotheram-Borus MJ.

BMC Pregnancy Childbirth. 2019 Jan 11;19(1):24. doi: 10.1186/s12884-018-2164-8.


Paroxysmal dyskinesias with drowsiness and thalamic lesions in GABA transaminase deficiency.

Morales-Briceño H, Chang FCF, Wong C, Mallawaarachchi A, Wolfe N, Pellegrino da Silva R, Hakonarson H, Sandaradura SA, Guo Y, Christodoulou J, Lagopoulos J, Grattan-Smith P, Fung VSC.

Neurology. 2019 Jan 8;92(2):94-97. doi: 10.1212/WNL.0000000000006744. No abstract available.


NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses.

Van Bergen NJ, Guo Y, Rankin J, Paczia N, Becker-Kettern J, Kremer LS, Pyle A, Conrotte JF, Ellaway C, Procopis P, Prelog K, Homfray T, Baptista J, Baple E, Wakeling M, Massey S, Kay DP, Shukla A, Girisha KM, Lewis LES, Santra S, Power R, Daubeney P, Montoya J, Ruiz-Pesini E, Kovacs-Nagy R, Pritsch M, Ahting U, Thorburn DR, Prokisch H, Taylor RW, Christodoulou J, Linster CL, Ellard S, Hakonarson H.

Brain. 2019 Jan 1;142(1):50-58. doi: 10.1093/brain/awy310.


Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child.

Rius R, Riley LG, Guo Y, Menezes M, Compton AG, Van Bergen NJ, Gayevskiy V, Cowley MJ, Cummings BB, Adams L, Ellaway C, Thorburn DR, Hakonarson H, Christodoulou J.

Mol Genet Metab. 2019 Jan;126(1):77-82. doi: 10.1016/j.ymgme.2018.12.002. Epub 2018 Dec 11.


Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements.

Schönewolf-Greulich B, Bisgaard AM, Dunø M, Jespersgaard C, Rokkjaer M, Hansen LK, Tsoutsou E, Sofokleous C, Topcu M, Kaur S, Van Bergen NJ, Brøndum-Nielsen K, Larsen MJ, Sørensen KP, Christodoulou J, Fagerberg CR, Tümer Z.

Clin Genet. 2019 Mar;95(3):403-408. doi: 10.1111/cge.13473. Epub 2018 Dec 7.


De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome.

Costain G, Callewaert B, Gabriel H, Tan TY, Walker S, Christodoulou J, Lazar T, Menten B, Orkin J, Sadedin S, Snell M, Vanlander A, Vergult S, White SM, Scherer SW, Hayeems RZ, Blaser S, Wodak SJ, Chitayat D, Marshall CR, Meyn MS.

Genet Med. 2019 Apr;21(4):1021-1026. doi: 10.1038/s41436-018-0323-y. Epub 2018 Oct 8.


A simple and efficient toolset for analysing mitochondrial trafficking in neuronal cells.

Shahen VA, Cantrill LC, Sangani NB, Christodoulou J, Gold WA.

Acta Histochem. 2018 Nov;120(8):797-805. doi: 10.1016/j.acthis.2018.09.001. Epub 2018 Sep 14.


Systematic mapping of free energy landscapes of a growing filamin domain during biosynthesis.

Waudby CA, Wlodarski T, Karyadi ME, Cassaignau AME, Chan SHS, Wentink AS, Schmidt-Engler JM, Camilloni C, Vendruscolo M, Cabrita LD, Christodoulou J.

Proc Natl Acad Sci U S A. 2018 Sep 25;115(39):9744-9749. doi: 10.1073/pnas.1716252115. Epub 2018 Sep 10.


The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2.

Riley LG, Heeney MM, Rudinger-Thirion J, Frugier M, Campagna DR, Zhou R, Hale GA, Hilliard LM, Kaplan JA, Kwiatkowski JL, Sieff CA, Steensma DP, Rennings AJ, Simons A, Schaap N, Roodenburg RJ, Kleefstra T, Arenillas L, Fita-Torró J, Ahmed R, Abboud M, Bechara E, Farah R, Tamminga RYJ, Bottomley SS, Sanchez M, Huls G, Swinkels DW, Christodoulou J, Fleming MD.

Haematologica. 2018 Dec;103(12):2008-2015. doi: 10.3324/haematol.2017.182659. Epub 2018 Jul 19.


Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy.

McMillan HJ, Telegrafi A, Singleton A, Cho MT, Lelli D, Lynn FC, Griffin J, Asamoah A, Rinne T, Erasmus CE, Koolen DA, Haaxma CA, Keren B, Doummar D, Mignot C, Thompson I, Velsher L, Dehghani M, Vahidi Mehrjardi MY, Maroofian R, Tchan M, Simons C, Christodoulou J, Martín-Hernández E, Guillen Sacoto MJ, Henderson LB, McLaughlin H, Molday LL, Molday RS, Yoon G.

Orphanet J Rare Dis. 2018 May 31;13(1):86. doi: 10.1186/s13023-018-0825-3.


Understanding HIV Risk Behaviors Among Young Men in South Africa: A Syndemic Approach.

Okafor CN, Christodoulou J, Bantjes J, Qondela T, Stewart J, Shoptaw S, Tomlinson M, Rotherman-Borus MJ.

AIDS Behav. 2018 Dec;22(12):3962-3970. doi: 10.1007/s10461-018-2227-x.


Impact of Gastrostomy Placement on Nutritional Status, Physical Health, and Parental Well-Being of Females with Rett Syndrome: A Longitudinal Study of an Australian Population.

Wong K, Downs J, Ellaway C, Baikie G, Ravikumara M, Jacoby P, Christodoulou J, Elliott EJ, Leonard H.

J Pediatr. 2018 Sep;200:188-195.e1. doi: 10.1016/j.jpeds.2018.04.050. Epub 2018 Jun 23.


Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis.

Coman D, Vissers LELM, Riley LG, Kwint MP, Hauck R, Koster J, Geuer S, Hopkins S, Hallinan B, Sweetman L, Engelke UFH, Burrow TA, Cardinal J, McGill J, Inwood A, Gurnsey C, Waterham HR, Christodoulou J, Wevers RA, Pitt J.

Am J Hum Genet. 2018 Jul 5;103(1):125-130. doi: 10.1016/j.ajhg.2018.05.004. Epub 2018 Jun 14.


Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy.

Kothur K, Holman K, Farnsworth E, Ho G, Lorentzos M, Troedson C, Gupta S, Webster R, Procopis PG, Menezes MP, Antony J, Ardern-Holmes S, Dale RC, Christodoulou J, Gill D, Bennetts B.

Seizure. 2018 Jul;59:132-140. doi: 10.1016/j.seizure.2018.05.005. Epub 2018 May 28.


Rare disease: a national survey of paediatricians' experiences and needs.

Zurynski Y, Gonzalez A, Deverell M, Phu A, Leonard H, Christodoulou J, Elliott E.

BMJ Paediatr Open. 2017 Oct 5;1(1):e000172. doi: 10.1136/bmjpo-2017-000172. eCollection 2017.


Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.

Lake NJ, Webb BD, Stroud DA, Richman TR, Ruzzenente B, Compton AG, Mountford HS, Pulman J, Zangarelli C, Rio M, Boddaert N, Assouline Z, Sherpa MD, Schadt EE, Houten SM, Byrnes J, McCormick EM, Zolkipli-Cunningham Z, Haude K, Zhang Z, Retterer K, Bai R, Calvo SE, Mootha VK, Christodoulou J, Rötig A, Filipovska A, Cristian I, Falk MJ, Metodiev MD, Thorburn DR.

Am J Hum Genet. 2018 Apr 5;102(4):713. doi: 10.1016/j.ajhg.2018.03.015. No abstract available.


Arts Syndrome.

de Brouwer APM, Christodoulou J.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.
2008 Oct 21 [updated 2018 Mar 22].

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