By Professor Tony Roscioli

Journal articles

Houdayer C; Phillips AM; Chabbert M; Bourreau J; Maroofian R; Houlden H; Richards K; Saadi NW; Dad'ová E; Van Bogaert P; Rupin M; Keren B; Charles P; Smol T; Riquet A; Pais L; O'Donnell-Luria A; VanNoy GE; Bayat A; Møller RS; Olofsson K; Jamra RA; Syrbe S; Dasouki M; Seaver LH; Sullivan JA; Shashi V; Alkuraya FS; Poss AF; Spence JE; Schnur RE; Forster IC; Mckenzie CE; Simons C; Wang M; Snell P; Kothur K; Buckley M; Roscioli T; Elserafy N; Dauriat B; Procaccio V; Henrion D; Lenaers G; Colin E; Verbeek NE; Van Gassen KL; Legendre C; Bonneau D; Reid CA; Howell KB; Ziegler A; Legros C, 2025, 'HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models', Annals of Neurology, 98, pp. 573 - 589, http://dx.doi.org/10.1002/ana.27277

Hamill C; Goergen S; Fahey M; Roscioli T; Gorrie A; Curd H; Gelfand N, 2025, 'The Prenatal Neuro-Radiological Phenotype Associated With a Recurrent Pathogenic Variant in PPP2R1A', Prenatal Diagnosis, 45, pp. 1196 - 1199, http://dx.doi.org/10.1002/pd.6851

Fennell AP; Roscioli T; Buckley M; Horton AE; Long S; Pharande P; Clucas LM, 2025, 'Lifesaving Diagnosis through Prenatal Genomic Sequencing', New England Journal of Medicine, 393, pp. 93 - 95, http://dx.doi.org/10.1056/NEJMc2506080

Verbinnen I; Douzgou Houge S; Hsieh TC; Lesmann H; Kirchhoff A; Geneviève D; Brimble E; Lenaerts L; Haesen D; Levy RJ; Thevenon J; Faivre L; Marco E; Chong JX; Bamshad M; Patterson K; Mirzaa GM; Foss K; Dobyns W; White SM; Pais L; O'Heir E; Itzikowitz R; Donald KA; Van der Merwe C; Mussa A; Cervini R; Giorgio E; Roscioli T; Dias KR; Evans CA; Brown NJ; Ruiz A; Trujillo Quintero JP; Rabin R; Pappas J; Yuan H; Lachlan K; Thomas S; Devlin A; Wright M; Martin R; Karwowska J; Posmyk R; Chatron N; Stark Z; Heath O; Delatycki M; Buchert R; Korenke GC; Ramsey K; Narayanan V; Grange DK; Weisenberg JL; Haack TB; Karch S; Kipkemoi P; Mangi M; Bindels de Heus KGCB; de Wit MCY; Barakat TS; Lim D; Van Winckel G; Spillmann RC; Shashi V; Jacob M; Stehr AM; Krawitz P; Douzgos Houge G; Janssens V, 2025, 'Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum', American Journal of Human Genetics, 112, pp. 554 - 571, http://dx.doi.org/10.1016/j.ajhg.2025.01.021

Tise CG; Ashton K; de Hayr L; Lee KD; Patkar OL; Krzesinski E; Bassetti JA; Carter EM; Raggio C; Zankl A; Khanshour AM; Atala KN; Rios JJ; Wise CA; Zhu Y; Zhang F; Roscioli T; Buckley M; Harvey RJ; Dawson PA, 2025, 'Biallelic SLC13A1 loss-of-function variants result in impaired sulfate transport and skeletal phenotypes, including short stature, scoliosis, and skeletal dysplasia', Genetics in Medicine Open, 3, http://dx.doi.org/10.1016/j.gimo.2024.101958

De Hayr L; Blok LER; Dias KR; Long J; Begemann A; Moir RD; Willis IM; Mocera M; Siegel G; Steindl K; Evans CA; Zhu Y; Zhang F; Field M; Ma A; Adès L; Josephi-Taylor S; Pfundt R; Zaki MS; Tomoum H; Gregor A; Laube J; Reis A; Maddirevula S; Hashem MO; Zweier M; Alkuraya FS; Maroofian R; Buckley MF; Gleeson JG; Zweier C; Coll-Tané M; Koolen DA; Rauch A; Roscioli T; Schenck A; Harvey RJ, 2025, 'Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability', Genetics in Medicine, 27, http://dx.doi.org/10.1016/j.gim.2024.101253

Ball M; Bouffler SE; Barnett CB; Freckmann ML; Hunter MF; Kamien B; Kassahn KS; Lunke S; Patel CV; Pinner J; Roscioli T; Sandaradura SA; Scott HS; Tan TY; Wallis M; Compton AG; Thorburn DR; Stark Z; Christodoulou J, 2025, 'Critically unwell infants and children with mitochondrial disorders diagnosed by ultrarapid genomic sequencing', Genetics in Medicine, 27, http://dx.doi.org/10.1016/j.gim.2024.101293

van der Laan L; Karimi K; Rooney K; Alders M; Brusco A; Lasa-Aranzasti A; Brunetti-Pierri N; Cueto-Gonzalez AM; DuPont BR; Cappuccio G; Dubourg C; Everman D; Gatinois V; Ganne B; Genevieve D; Ferrero GB; Kempers M; Levy MA; Niceta M; Novelli A; Orlando V; Odent S; Patterson WG; Polstra AM; Roscioli T; Ruiz-Pallares N; Sabbagh Q; Trajkova S; Tartaglia M; Tedder MA; Toutain A; Koehler U; Valenzuela I; van Hagen JM; van der Kevie-Kersemaekers AM; Henneman P; Mannens MMAM; Sadikovic B; van Haelst MM, 2025, 'DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective', European Journal of Human Genetics, http://dx.doi.org/10.1038/s41431-025-01956-0

Long S; Schofield D; Kraindler J; Vink R; Ross K; Hart N; Evans H; Wilson A; Hyett J; Wakefield CE; Kelada L; Scott H; Lunke S; Wall M; Buckley MF; Fernihough G; McGillivray G; Roscioli T, 2025, 'The PreGen Research Program: Implementing Prenatal Genomic Testing in Australia—A Commentary', Australian and New Zealand Journal of Obstetrics and Gynaecology, http://dx.doi.org/10.1111/ajo.13936

Kirk EP; Delatycki MB; Archibald AD; Tutty E; Caruana J; Halliday JL; Lewis S; McClaren BJ; Newson AJ; Dive L; Best S; Long JC; Braithwaite J; Downes MJ; Scuffham PA; Massie J; Barlow-Stewart K; Kulkarni A; Ruscigno A; Kanga-Parabia A; Rodrigues B; Bennetts BH; Ebzery C; Hunt C; Cliffe CC; Lee C; Azmanov D; King EA; Madelli EO; Zhang F; Ho G; Danos I; Liebelt J; Fletcher J; Kennedy J; Beilby J; Emery JD; McGaughran J; Marum JE; Scarff K; Fisk K; Harrison K; Boggs K; Giameos L; Fitzgerald L; Thomas L; Burnett L; Freeman L; Harris M; Berbic M; Davis MR; Cifuentes Ochoa M; Wallis M; Wall M; Chow MTM; Ferrie MM; Pachter N; Quayum N; Lang N; Pandy PK; Casella R; Allcock RJN; Ong R; Edwards S; Sundercombe S; Jelenich S; Righetti S; Lunke S; Kaur S; Stock-Myer S; Eggers S; Walker SP; Theodorou T; Catchpool T; Clinch T; Roscioli T; Hardy T; Zhu Y; Fehlberg Z; Boughtwood TF; Laing NG, 2025, 'Nationwide, Couple-Based Genetic Carrier Screening', Obstetric Anesthesia Digest, 45, pp. 36 - 37, http://dx.doi.org/10.1097/01.aoa.0001097628.96519.7d

LaFlamme CW; Rastin C; Sengupta S; Pennington HE; Russ-Hall SJ; Schneider AL; Bonkowski ES; Almanza Fuerte EP; Allan TJ; Zalusky MPG; Goffena J; Gibson SB; Nyaga DM; Lieffering N; Hebbar M; Walker EV; Darnell D; Olsen SR; Kolekar P; Djekidel MN; Rosikiewicz W; McConkey H; Kerkhof J; Levy MA; Relator R; Lev D; Lerman-Sagie T; Park KL; Alders M; Cappuccio G; Chatron N; Demain L; Genevieve D; Lesca G; Roscioli T; Sanlaville D; Tedder ML; Gupta S; Jones EA; Weisz-Hubshman M; Ketkar S; Dai H; Worley KC; Rosenfeld JA; Chao HT; Neale G; Carvill GL; Wang Z; Berkovic SF; Sadleir LG; Miller DE; Scheffer IE; Sadikovic B; Mefford HC, 2024, 'Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement', Nature Communications, 15, http://dx.doi.org/10.1038/s41467-024-50159-6

Musolf AM; Justice CM; Erdogan-Yildirim Z; Goovaerts S; Cuellar A; Shaffer JR; Marazita ML; Claes P; Weinberg SM; Li J; Senders C; Zwienenberg M; Simeonov E; Kaneva R; Roscioli T; Di Pietro L; Barba M; Lattanzi W; Cunningham ML; Romitti PA; Boyadjiev SA, 2024, 'Whole genome sequencing identifies associations for nonsyndromic sagittal craniosynostosis with the intergenic region of BMP2 and noncoding RNA gene LINC01428', Scientific Reports, 14, http://dx.doi.org/10.1038/s41598-024-58343-w

Kirk EP; Delatycki MB; Archibald AD; Tutty E; Caruana J; Halliday JL; Lewis S; McClaren BJ; Newson AJ; Dive L; Best S; Long JC; Braithwaite J; Downes MJ; Scuffham PA; Massie J; Barlow-Stewart K; Kulkarni A; Ruscigno A; Kanga-Parabia A; Rodrigues B; Bennetts BH; Ebzery C; Hunt C; Cliffe CC; Lee C; Azmanov D; King EA; Madelli EO; Zhang F; Danos I; Liebelt J; Fletcher J; Kennedy J; Beilby J; Emery JD; McGaughran J; Marum JE; Scarff K; Fisk K; Harrison K; Boggs K; Giameos L; Fitzgerald L; Thomas L; Burnett L; Freeman L; Harris M; Berbic M; Davis MR; Ochoa MC; Wallis M; Wall M; Chow MTM; Ferrie MM; Pachter N; Quayum N; Lang N; Pandy PK; Casella R; Allcock RJN; Ong R; Edwards S; Sundercombe S; Jelenich S; Righetti S; Lunke S; Kaur S; Stock-Myer S; Eggers S; Walker SP; Theodorou T; Catchpool T; Clinch T; Roscioli T; Hardy T; Zhu Y; Fehlberg Z; Boughtwood TF; Laing NG, 2024, 'Nationwide, Couple-Based Genetic Carrier Screening', New England Journal of Medicine, 391, pp. 1877 - 1889, http://dx.doi.org/10.1056/NEJMoa2314768

Chen Y; Dawes R; Kim HC; Ljungdahl A; Stenton SL; Walker S; Lord J; Lemire G; Martin-Geary AC; Ganesh VS; Ma J; Ellingford JM; Delage E; D’Souza EN; Dong S; Adams DR; Allan K; Bakshi M; Baldwin EE; Berger SI; Bernstein JA; Bhatnagar I; Blair E; Brown NJ; Burrage LC; Chapman K; Coman DJ; Compton AG; Cunningham CA; D’Souza P; Danecek P; Délot EC; Dias KR; Elias ER; Elmslie F; Evans CA; Ewans L; Ezell K; Fraser JL; Gallacher L; Genetti CA; Goriely A; Grant CL; Haack T; Higgs JE; Hinch AG; Hurles ME; Kuechler A; Lachlan KL; Lalani SR; Lecoquierre F; Leitão E; Fevre AL; Leventer RJ; Liebelt JE; Lindsay S; Lockhart PJ; Ma AS; Macnamara EF; Mansour S; Maurer TM; Mendez HR; Metcalfe K; Montgomery SB; Moosajee M; Nassogne MC; Neumann S; O’Donoghue M; O’Leary M; Palmer EE; Pattani N; Phillips J; Pitsava G; Pysar R; Rehm HL; Reuter CM; Revencu N; Riess A; Rius R; Rodan L; Roscioli T; Rosenfeld JA; Sachdev R; Shaw-Smith CJ; Simons C; Sisodiya SM; Snell P; St Clair L; Stark Z; Stewart HS; Tan TY; Tan NB; Temple SEL; Thorburn DR; Tifft CJ; Uebergang E; VanNoy GE; Vasudevan P; Vilain E; Viskochil DH, 2024, 'De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome', Nature, 632, pp. 832 - 840, http://dx.doi.org/10.1038/s41586-024-07773-7

Nicolas-Martinez EC; Robinson O; Pflueger C; Gardner A; Corbett MA; Ritchie T; Kroes T; van Eyk CL; Scheffer IE; Hildebrand MS; Barnier JV; Rousseau V; Genevieve D; Haushalter V; Piton A; Denommé-Pichon AS; Bruel AL; Nambot S; Isidor B; Grigg J; Gonzalez T; Ghedia S; Marchant RG; Bournazos A; Wong WK; Webster RI; Evesson FJ; Jones KJ; Azmanov DN; Barnett CP; Barry SC; Baynam G; Berkovic SF; Christodoulou J; Coman DJ; Cooper ST; Delatycki M; Dudding TE; Fletcher S; Gecz J; Higgins MJ; Jolly LA; Lister R; McGaughran J; Poulton C; Roscioli T; Ingrid IS; Sinclair AH; Spurdle AB; Tan TY; Voineagu I, 2024, 'RNA variant assessment using transactivation and transdifferentiation', American Journal of Human Genetics, 111, pp. 1673 - 1699, http://dx.doi.org/10.1016/j.ajhg.2024.06.018

Dias KR; Shrestha R; Schofield D; Evans CA; O'Heir E; Zhu Y; Zhang F; Standen K; Weisburd B; Stenton SL; Sanchis-Juan A; Brand H; Talkowski ME; Ma A; Ghedia S; Wilson M; Sandaradura SA; Smith J; Kamien B; Turner A; Bakshi M; Adès LC; Mowat D; Regan M; McGillivray G; Savarirayan R; White SM; Tan TY; Stark Z; Brown NJ; Pérez-Jurado LA; Krzesinski E; Hunter MF; Akesson L; Fennell AP; Yeung A; Boughtwood T; Ewans LJ; Kerkhof J; Lucas C; Carey L; French H; Rapadas M; Stevanovski I; Deveson IW; Cliffe C; Elakis G; Kirk EP; Dudding-Byth T; Fletcher J; Walsh R; Corbett MA; Kroes T; Gecz J; Meldrum C; Cliffe S; Wall M; Lunke S; North K; Amor DJ; Field M; Sadikovic B; Buckley MF; O'Donnell-Luria A; Roscioli T, 2024, 'Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort', Genetics in Medicine, 26, http://dx.doi.org/10.1016/j.gim.2024.101076

Goel H; O'Donnell S; Roscioli T; Hart F, 2024, 'Another case of nuclear speckleopathy due to a novel NKAP pathogenic variant', Clinical Dysmorphology, 33, pp. 79 - 82, http://dx.doi.org/10.1097/MCD.0000000000000485

Schofield D; Shrestha R; Tan O; Lim K; Rajkumar R; West S; Boyle J; Murray L; Leffler M; Christie L; Rice M; Hart N; Li J; Tanton R; Roscioli T; Field M, 2024, 'The Healthcare and Societal Costs of Familial Intellectual Disability', International Journal of Environmental Research and Public Health, 21, http://dx.doi.org/10.3390/ijerph21030299

Seed E; Noon F; Milnes D; Roscioli T; Kristensen K; Ellwood D; DaSilva Costa F, 2023, 'Biallellic variants in CACNA1S cause fetal akinesia sequence, progressive hydrops and stillbirth', Prenatal Diagnosis, 43, pp. 1678 - 1681, http://dx.doi.org/10.1002/pd.6471

Forwood C; Ashton K; Zhu Y; Zhang F; Dias KR; Standen K; Evans CA; Carey L; Cardamone M; Shalhoub C; Katf H; Riveros C; Hsieh TC; Krawitz P; Robinson PN; Dudding-Byth T; Sadikovic B; Pinner J; Buckley MF; Roscioli T, 2023, 'Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re-classification of an ARID1B missense variant', American Journal of Medical Genetics Part C Seminars in Medical Genetics, 193, http://dx.doi.org/10.1002/ajmg.c.32056

Vetro A; Pelorosso C; Balestrini S; Masi A; Hambleton S; Argilli E; Conti V; Giubbolini S; Barrick R; Bergant G; Writzl K; Bijlsma EK; Brunet T; Cacheiro P; Mei D; Devlin A; Hoffer MJV; Machol K; Mannaioni G; Sakamoto M; Menezes MP; Courtin T; Sherr E; Parra R; Richardson R; Roscioli T; Scala M; von Stülpnagel C; Smedley D; Pochiero F; Mari F; Ramesh V; Capra V; Mancardi M; Keren B; Mignot C; Lulli M; Parks K; Griffin H; Brugger M; Nigro V; Hirata Y; Koichihara R; Peterlin B; Maki R; Nitta Y; Ambrose JC; Arumugam P; Bevers R; Bleda M; Boardman-Pretty F; Boustred CR; Brittain H; Brown MA; Caulfield MJ; Chan GC; Giess A; Griffin JN; Hamblin A; Henderson S; Hubbard TJP; Jackson R; Jones LJ; Kasperaviciute D; Kayikci M; Kousathanas A; Lahnstein L; Lakey A; Leigh SEA; Leong IUS; Lopez JF; Maleady-Crowe F; McEntagart M; Minneci F; Mitchell J; Moutsianas L; Mueller M; Murugaesu N; Need AC; O'Donovan P; Odhams CA; Patch C; Perez-Gil D; Pereira MB; Pullinger J; Rahim T; Rendon A; Rogers T; Savage K; Sawant K; Scott RH; Siddiq A; Sieghart A; Smith SC; Sosinsky A; Stuckey A; Tanguy M; Taylor Tavares AL; Thomas ERA; Thompson SR, 2023, 'Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration', American Journal of Human Genetics, 110, pp. 1356 - 1376, http://dx.doi.org/10.1016/j.ajhg.2023.06.008

Thomas-Wilson A; Schacht JP; Chitayat D; Blaser S; Santos FJR; Glaser K; Caffo A; Wentzensen IM; Henderson LB; Zhang F; Zhu Y; Di Corleto E; da Silva Costa F; Vink R; Alkhunaizi E; Russell L; Buckley MF; Roscioli T; Pereira EM; Ganapathi M, 2023, 'Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review', American Journal of Medical Genetics Part A, 191, pp. 1935 - 1941, http://dx.doi.org/10.1002/ajmg.a.63203

Smits DJ; Schot R; Popescu CA; Dias KR; Ades L; Briere LC; Sweetser DA; Kushima I; Aleksic B; Khan S; Karageorgou V; Ordonez N; Sleutels FJGT; van der Kaay DCM; Van Mol C; Van Esch H; Bertoli-Avella AM; Roscioli T; Mancini GMS, 2023, 'De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues', Human Genetics, 142, pp. 949 - 964, http://dx.doi.org/10.1007/s00439-023-02569-7

Kuroda Y; Iwata-Otsubo A; Dias KR; Temple SEL; Nagao K; De Hayr L; Zhu Y; Isobe SY; Nishibuchi G; Fiordaliso SK; Fujita Y; Rippert AL; Baker SW; Leung ML; Koboldt DC; Harman A; Keena BA; Kazama I; Subramanian GM; Manickam K; Schmalz B; Latsko M; Zackai EH; Edwards M; Evans CA; Dulik MC; Buckley MF; Yamashita T; O'Brien WT; Harvey RJ; Obuse C; Roscioli T; Izumi K, 2023, 'Dominant-negative variants in CBX1 cause a neurodevelopmental disorder', Genetics in Medicine, 25, http://dx.doi.org/10.1016/j.gim.2023.100861

Mattoteia D; Chiapparino A; Fumagalli M; De Marco M; De Giorgi F; Negro L; Pinnola A; Faravelli S; Roscioli T; Scietti L; Forneris F, 2023, 'Identification of Regulatory Molecular “Hot Spots” for LH/PLOD Collagen Glycosyltransferase Activity', International Journal of Molecular Sciences, 24, http://dx.doi.org/10.3390/ijms241311213

Rots D; Jakub TE; Keung C; Jackson A; Banka S; Pfundt R; de Vries BBA; van Jaarsveld RH; Hopman SMJ; van Binsbergen E; Valenzuela I; Hempel M; Bierhals T; Kortüm F; Lecoquierre F; Goldenberg A; Hertz JM; Andersen CB; Kibæk M; Prijoles EJ; Stevenson RE; Everman DB; Patterson WG; Meng L; Gijavanekar C; De Dios K; Lakhani S; Levy T; Wagner M; Wieczorek D; Benke PJ; Lopez Garcia MS; Perrier R; Sousa SB; Almeida PM; Simões MJ; Isidor B; Deb W; Schmanski AA; Abdul-Rahman O; Philippe C; Bruel AL; Faivre L; Vitobello A; Thauvin C; Smits JJ; Garavelli L; Caraffi SG; Peluso F; Davis-Keppen L; Platt D; Royer E; Leeuwen L; Sinnema M; Stegmann APA; Stumpel CTRM; Tiller GE; Bosch DGM; Potgieter ST; Joss S; Splitt M; Holden S; Prapa M; Foulds N; Douzgou S; Puura K; Waltes R; Chiocchetti AG; Freitag CM; Satterstrom FK; De Rubeis S; Buxbaum J; Gelb BD; Branko A; Kushima I; Howe J; Scherer SW; Arado A; Baldo C; Patat O; Bénédicte D; Lopergolo D; Santorelli FM; Haack TB; Dufke A; Bertrand M; Falb RJ; Rieß A; Krieg P; Spranger S; Bedeschi MF; Iascone M; Josephi-Taylor S; Roscioli T; Buckley MF; Liebelt J; Dagli AI; Aten E; Hurst ACE; Hicks A, 2023, 'The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder', American Journal of Human Genetics, 110, pp. 963 - 978, http://dx.doi.org/10.1016/j.ajhg.2023.04.008

Strong A; Rao S; von Hardenberg S; Li D; Cox LL; Lee PC; Zhang LQ; Awotoye W; Diamond T; Gold J; Gooch C; Gowans LJJ; Hakonarson H; Hing A; Loomes K; Martin N; Marazita ML; Mononen T; Piccoli D; Pfundt R; Raskin S; Scherer SW; Sobriera N; Vaccaro C; Wang X; Watson D; Weksberg R; Bhoj E; Murray JC; Lidral AC; Butali A; Buckley MF; Roscioli T; Koolen DA; Seaver LH; Prows CA; Stottmann RW; Cox TC, 2023, 'A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature', American Journal of Medical Genetics Part A, 191, pp. 1227 - 1239, http://dx.doi.org/10.1002/ajmg.a.63130

Stark Z; Boughtwood T; Haas M; Braithwaite J; Gaff CL; Goranitis I; Spurdle AB; Hansen DP; Hofmann O; Laing N; Metcalfe S; Newson AJ; Scott HS; Thorne N; Ward RL; Dinger ME; Best S; Long JC; Grimmond SM; Pearson J; Waddell N; Barnett CP; Cook M; Field M; Fielding D; Fox SB; Gecz J; Jaffe A; Leventer RJ; Lockhart PJ; Lunke S; Mallett AJ; McGaughran J; Mileshkin L; Nones K; Roscioli T; Scheffer IE; Semsarian C; Simons C; Thomas DM; Thorburn DR; Tothill R; White D; Dunwoodie S; Simpson PT; Phillips P; Brion MJ; Finlay K; Quinn MC; Mattiske T; Tudini E; Boggs K; Murray S; Wells K; Cannings J; Sinclair AH; Christodoulou J; North KN, 2023, 'Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare', American Journal of Human Genetics, 110, pp. 419 - 426, http://dx.doi.org/10.1016/j.ajhg.2023.01.018

Serey-Gaut M; Cortes M; Makrythanasis P; Suri M; Taylor AMR; Sullivan JA; Asleh AN; Mitra J; Dar MA; McNamara A; Shashi V; Dugan S; Song X; Rosenfeld JA; Cabrol C; Iwaszkiewicz J; Zoete V; Pehlivan D; Akdemir ZC; Roeder ER; Littlejohn RO; Dibra HK; Byrd PJ; Stewart GS; Geckinli BB; Posey J; Westman R; Jungbluth C; Eason J; Sachdev R; Evans CA; Lemire G; VanNoy GE; O'Donnell-Luria A; Mau-Them FT; Juven A; Piard J; Nixon CY; Zhu Y; Ha T; Buckley MF; Thauvin C; Essien Umanah GK; Van Maldergem L; Lupski JR; Roscioli T; Dawson VL; Dawson TM; Antonarakis SE, 2023, 'Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly', American Journal of Human Genetics, 110, pp. 499 - 515, http://dx.doi.org/10.1016/j.ajhg.2023.01.006

Al-shinnag M; Forwood C; Walsh R; Josephi-Taylor S; Wilson A; Zhang F; Zhu Y; Moghimi A; Buckley MF; Roscioli T, 2023, 'The role of perinatal phenotyping in confirming the molecular diagnosis of congenital dyseryhtropoietic anaemia type I (CDA1) – a case report', Pathology, 55, pp. S41 - S41, http://dx.doi.org/10.1016/j.pathol.2022.12.132

Janssen BDE; van den Boogaard MJH; Lichtenbelt K; Seaby EG; Stals K; Ellard S; Newbury-Ecob R; Dixit A; Roht L; Pajusalu S; Õunap K; Firth HV; Buckley M; Wilson M; Roscioli T; Tidwell T; Mao R; Ennis S; Holwerda SJ; van Gassen K; van Jaarsveld RH, 2022, 'De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorder', Human Mutation, 43, pp. 1844 - 1851, http://dx.doi.org/10.1002/humu.24444

Temple SEL; Ho G; Bennetts B; Boggs K; Vidic N; Mowat D; Christodoulou J; Schultz A; Gayagay T; Roscioli T; Zhu Y; Lunke S; Armstrong D; Harrison J; Kapur N; McDonald T; Selvadurai H; Tai A; Stark Z; Jaffe A, 2022, 'The role of exome sequencing in childhood interstitial or diffuse lung disease', Orphanet Journal of Rare Diseases, 17, http://dx.doi.org/10.1186/s13023-022-02508-1

Levy MA; Relator R; McConkey H; Pranckeviciene E; Kerkhof J; Barat-Houari M; Bargiacchi S; Biamino E; Palomares Bralo M; Cappuccio G; Ciolfi A; Clarke A; DuPont BR; Elting MW; Faivre L; Fee T; Ferilli M; Fletcher RS; Cherick F; Foroutan A; Friez MJ; Gervasini C; Haghshenas S; Hilton BA; Jenkins Z; Kaur S; Lewis S; Louie RJ; Maitz S; Milani D; Morgan AT; Oegema R; Østergaard E; Pallares NR; Piccione M; Plomp AS; Poulton C; Reilly J; Rius R; Robertson S; Rooney K; Rousseau J; Santen GWE; Santos-Simarro F; Schijns J; Squeo GM; John MS; Thauvin-Robinet C; Traficante G; van der Sluijs PJ; Vergano SA; Vos N; Walden KK; Azmanov D; Balci TB; Banka S; Gecz J; Henneman P; Lee JA; Mannens MMAM; Roscioli T; Siu V; Amor DJ; Baynam G; Bend EG; Boycott K; Brunetti-Pierri N; Campeau PM; Campion D; Christodoulou J; Dyment D; Esber N; Fahrner JA; Fleming MD; Genevieve D; Heron D; Husson T; Kernohan KD; McNeill A; Menke LA; Merla G; Prontera P; Rockman-Greenberg C; Schwartz C; Skinner SA; Stevenson RE; Vincent M; Vitobello A; Tartaglia M; Alders M; Tedder ML; Sadikovic B, 2022, 'Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders', Human Mutation, 43, pp. 1609 - 1628, http://dx.doi.org/10.1002/humu.24446

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Wong WK; Troedson C; Dale RC; Roscioli T; Field M; Palmer E; Martin EM; Kumar KR; Mohammad SS, 2022, 'Levodopa Responsive Dystonia Parkinsonism, Intellectual Disability, and Optic Atrophy Due to a Heterozygous Missense Variant in AFG3L2', Movement Disorders Clinical Practice, 9, pp. S32 - S35, http://dx.doi.org/10.1002/mdc3.13538

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Wong WK; Troedson C; Damme M; Goetti R; Temple SEL; Schöls L; Balousha G; Prelog K; Buckley M; Roscioli T; Hengel H; Mohammad SS, 2022, 'BCAS3-Related Neurodevelopmental Disorder Shows Magnetic Resonance Imaging Features Resembling Brain Iron Accumulation', Movement Disorders, 37, pp. 870 - 872, http://dx.doi.org/10.1002/mds.28915

Yuen M; Worgan L; Iwanski J; Pappas CT; Joshi H; Churko JM; Arbuckle S; Kirk EP; Zhu Y; Roscioli T; Gregorio CC; Cooper ST, 2022, 'Neonatal-lethal dilated cardiomyopathy due to a homozygous LMOD2 donor splice-site variant', European Journal of Human Genetics, 30, pp. 450 - 457, http://dx.doi.org/10.1038/s41431-022-01043-8

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Minoche AE; Lundie B; Peters GB; Ohnesorg T; Pinese M; Thomas DM; Zankl A; Roscioli T; Schonrock N; Kummerfeld S; Burnett L; Dinger ME; Cowley MJ, 2021, 'ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data', Genome Medicine, 13, pp. 32, http://dx.doi.org/10.1186/s13073-021-00841-x

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Vavassori S; Chou J; Faletti LE; Haunerdinger V; Opitz L; Joset P; Fraser CJ; Prader S; Gao X; Schuch LA; Wagner M; Hoefele J; Maccari ME; Zhu Y; Elakis G; Gabbett MT; Forstner M; Omran H; Kaiser T; Kessler C; Olbrich H; Frosk P; Almutairi A; Platt CD; Elkins M; Weeks S; Rubin T; Planas R; Marchetti T; Koovely D; Klämbt V; Soliman NA; von Hardenberg S; Klemann C; Baumann U; Lenz D; Klein-Franke A; Schwemmle M; Huber M; Sturm E; Hartleif S; Häffner K; Gimpel C; Brotschi B; Laube G; Güngör T; Buckley MF; Kottke R; Staufner C; Hildebrandt F; Reu-Hofer S; Moll S; Weber A; Kaur H; Ehl S; Hiller S; Geha R; Roscioli T; Griese M; Pachlopnik Schmid J, 2021, 'Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency', Journal of Allergy and Clinical Immunology, 148, pp. 381 - 393, http://dx.doi.org/10.1016/j.jaci.2021.03.045

Sundercombe SL; Berbic M; Evans CA; Cliffe C; Elakis G; Temple SEL; Selvanathan A; Ewans L; Quayum N; Nixon CY; Dias KR; Lang S; Richards A; Goh S; Wilson M; Mowat D; Sachdev R; Sandaradura S; Walsh M; Farrar MA; Walsh R; Fletcher J; Kirk EP; Teunisse GM; Schofield D; Buckley MF; Zhu Y; Roscioli T, 2021, 'Clinically Responsive Genomic Analysis Pipelines: Elements to Improve Detection Rate and Efficiency', Journal of Molecular Diagnostics, 23, pp. 894 - 905, http://dx.doi.org/10.1016/j.jmoldx.2021.04.007

Field MJ; Kumar R; Hackett A; Kayumi S; Shoubridge CA; Ewans LJ; Ivancevic AM; Dudding-Byth T; Carroll R; Kroes T; Gardner AE; Sullivan P; Ha TT; Schwartz CE; Cowley MJ; Dinger ME; Palmer EE; Christie L; Shaw M; Roscioli T; Gecz J; Corbett MA, 2021, 'Different types of disease-causing noncoding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disability', Human Mutation, 42, pp. 835 - 847, http://dx.doi.org/10.1002/humu.24207

Li D; March ME; Fortugno P; Cox LL; Matsuoka LS; Monetta R; Seiler C; Pyle LC; Bedoukian EC; Sánchez-Soler MJ; Caluseriu O; Grand K; Tam A; Aycinena ARP; Camerota L; Guo Y; Sleiman P; Callewaert B; Kumps C; Dheedene A; Buckley M; Kirk EP; Turner A; Kamien B; Patel C; Wilson M; Roscioli T; Christodoulou J; Cox TC; Zackai EH; Brancati F; Hakonarson H; Bhoj EJ, 2021, 'Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome', Human Genetics, 140, pp. 1061 - 1076, http://dx.doi.org/10.1007/s00439-021-02274-3

Palmer EE; Sachdev R; Macintosh R; Melo US; Mundlos S; Righetti S; Kandula T; Minoche AE; Puttick C; Gayevskiy V; Hesson L; Idrisoglu S; Shoubridge C; Thai MHN; Davis RL; Drew AP; Sampaio H; Andrews PI; Lawson J; Cardamone M; Mowat D; Colley A; Kummerfeld S; Dinger ME; Cowley MJ; Roscioli T; Bye A; Kirk E, 2021, 'Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies', Neurology, 96, pp. E1770 - E1782, http://dx.doi.org/10.1212/WNL.0000000000011655

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