By Professor Tony Roscioli

Book Chapters

Roscioli T; Ziegler JB; Buckley MF; Wong M, 2007, 'Hepatic veno-occlusive disease with immunodeficiency', in Pagon R (ed.), Gene Reviews, edn. Original, GeneTests, Seattle, pp. 1 - 15

Journal articles

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

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

Chen Y; Dawes R; Kim HC; Stenton SL; Walker S; Ljungdahl A; Lord J; Ganesh VS; Ma J; Martin-Geary AC; Lemire G; D'Souza EN; Dong S; Ellingford JM; Adams DR; Allan K; Bakshi M; Baldwin EE; Berger SI; Bernstein JA; Brown NJ; Burrage LC; Chapman K; Compton AG; Cunningham CA; D'Souza P; Délot EC; Dias K-R; Elias ER; Evans C-A; Ewans L; Ezell K; Fraser JL; Gallacher L; Genetti CA; Grant CL; Haack T; Kuechler A; Lalani SR; Leitão E; Fevre AL; Leventer RJ; Liebelt JE; Lockhart PJ; Ma AS; Macnamara EF; Maurer TM; Mendez HR; Montgomery SB; Nassogne M-C; Neumann S; O'Leary M; Palmer EE; Phillips J; Pitsava G; Pysar R; Rehm HL; Reuter CM; Revencu N; Riess A; Rius R; Rodan L; Roscioli T; Rosenfeld JA; Sachdev R; Simons C; Sisodiya SM; Snell P; Clair LS; Stark Z; Tan TY; Tan NB; Temple SE; Thorburn DR; Tifft CJ; Uebergang E; VanNoy GE; Vilain E; Viskochil DH; Wedd L; Wheeler MT; White SM; Wojcik M; Wolfe LA; Wolfenson Z; Xiao C; Zocche D; Rubenstein JL; Markenscoff-Papadimitriou E; Fica SM; Baralle D; Depienne C; MacArthur DG; Howson JM; Sanders SJ; O'Donnell-Luria A; Whiffin N, 2024, 'De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.', medRxiv, http://dx.doi.org/10.1101/2024.04.07.24305438

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

Helman G; Zarekiani P; Tromp SAM; Andrews A; Botto LD; Bonkowsky JL; Chassevent A; Giorgio E; Pippucci T; Wei S; Smith-Hicks C; Vaula G; Willemsen MAAP; Schimmel M; Vollert K; Shimizu F; Kanda T; Lynch M; Roscioli T; Taft RJ; Simons C; Bugiani M; Kuijpers TW; van der Knaap MS, 2022, 'Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy', Annals of Neurology, 92, pp. 895 - 901, http://dx.doi.org/10.1002/ana.26477

Ewans LJ; Minoche AE; Schofield D; Shrestha R; Puttick C; Zhu Y; Drew A; Gayevskiy V; Elakis G; Walsh C; Adès LC; Colley A; Ellaway C; Evans CA; Freckmann ML; Goodwin L; Hackett A; Kamien B; Kirk EP; Lipke M; Mowat D; Palmer E; Rajagopalan S; Ronan A; Sachdev R; Stevenson W; Turner A; Wilson M; Worgan L; Morel-Kopp MC; Field M; Buckley MF; Cowley MJ; Dinger ME; Roscioli T, 2022, 'Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis', European Journal of Human Genetics, 30, pp. 1121 - 1131, http://dx.doi.org/10.1038/s41431-022-01162-2

Dias KR; Carlston CM; Blok LER; De Hayr L; Nawaz U; Evans CA; Bayrak-Toydemir P; Htun S; Zhu Y; Ma A; Lynch SA; Moorwood C; Stals K; Ellard S; Bainbridge MN; Friedman J; Pappas JG; Rabin R; Nowak CB; Douglas J; Wilson TE; Guillen Sacoto MJ; Mullegama SV; Palculict TB; Kirk EP; Pinner JR; Edwards M; Montanari F; Graziano C; Pippucci T; Dingmann B; Glass I; Mefford HC; Shimoji T; Suzuki T; Yamakawa K; Streff H; Schaaf CP; Slavotinek AM; Voineagu I; Carey JC; Buckley MF; Schenck A; Harvey RJ; Roscioli T, 2022, 'De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations', Genetics in Medicine, 24, pp. 1952 - 1966, http://dx.doi.org/10.1016/j.gim.2022.06.001

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

Dhombres F; Morgan P; Chaudhari BP; Filges I; Sparks TN; Lapunzina P; Roscioli T; Agarwal U; Aggarwal S; Beneteau C; Cacheiro P; Carmody LC; Collardeau-Frachon S; Dempsey EA; Dufke A; Duyzend MH; el Ghosh M; Giordano JL; Glad R; Grinfelde I; Iliescu DG; Ladewig MS; Munoz-Torres MC; Pollazzon M; Radio FC; Rodo C; Silva RG; Smedley D; Sundaramurthi JC; Toro S; Valenzuela I; Vasilevsky NA; Wapner RJ; Zemet R; Haendel MA; Robinson PN, 2022, 'Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology', American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 190, pp. 231 - 242, http://dx.doi.org/10.1002/ajmg.c.31989

Stephenson SEM; Costain G; Blok LER; Silk MA; Nguyen TB; Dong X; Alhuzaimi DE; Dowling JJ; Walker S; Amburgey K; Hayeems RZ; Rodan LH; Schwartz MA; Picker J; Lynch SA; Gupta A; Rasmussen KJ; Schimmenti LA; Klee EW; Niu Z; Agre KE; Chilton I; Chung WK; Revah-Politi A; Au PYB; Griffith C; Racobaldo M; Raas-Rothschild A; Ben Zeev B; Barel O; Moutton S; Morice-Picard F; Carmignac V; Cornaton J; Marle N; Devinsky O; Stimach C; Wechsler SB; Hainline BE; Sapp K; Willems M; Bruel AL; Dias KR; Evans CA; Roscioli T; Sachdev R; Temple SEL; Zhu Y; Baker JJ; Scheffer IE; Gardiner FJ; Schneider AL; Muir AM; Mefford HC; Crunk A; Heise EM; Millan F; Monaghan KG; Person R; Rhodes L; Richards S; Wentzensen IM; Cogné B; Isidor B; Nizon M; Vincent M; Besnard T; Piton A; Marcelis C; Kato K; Koyama N; Ogi T; Goh ESY; Richmond C; Amor DJ; Boyce JO; Morgan AT; Hildebrand MS; Kaspi A; Bahlo M; Friðriksdóttir R; Katrínardóttir H; Sulem P; Stefánsson K; Björnsson HT; Mandelstam S; Morleo M; Mariani M; Scala M; Accogli A; Torella A; Capra V; Wallis M; Jansen S; Weisfisz Q; de Haan H; Sadedin S; Lim SC; White SM; Ascher DB, 2022, 'Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome', American Journal of Human Genetics, 109, pp. 601 - 617, http://dx.doi.org/10.1016/j.ajhg.2022.03.002

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

Levy MA; McConkey H; Kerkhof J; Barat-Houari M; Bargiacchi S; Biamino E; Bralo MP; Cappuccio G; Ciolfi A; Clarke A; DuPont BR; Elting MW; Faivre L; Fee T; Fletcher RS; Cherik 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; Pizzi S; Plomp AS; Poulton C; Reilly J; Relator R; Rius R; Robertson S; Rooney K; Rousseau J; Santen GWE; Santos-Simarro F; Schijns J; Squeo GM; St John M; Thauvin-Robinet C; Traficante G; van der Sluijs PJ; Vergano SA; Vos N; Walden KK; Azmanov D; Balci T; 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; Christodoulou J; Dyment D; Esber N; Fahrner JA; Fleming MD; Genevieve D; Kerrnohan KD; McNeill A; Menke LA; Merla G; Prontera P; Rockman-Greenberg C; Schwartz C; Skinner SA; Stevenson RE; Vitobello A; Tartaglia M; Alders M; Tedder ML; Sadikovic B, 2022, 'Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders', Human Genetics and Genomics Advances, 3, pp. 100075, http://dx.doi.org/10.1016/j.xhgg.2021.100075

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, 2022, 'Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants', Genetics in Medicine, 24, pp. 130 - 145, http://dx.doi.org/10.1016/j.gim.2021.09.001

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

Yuen M; Worgan L; Iwanski J; Pappas C; Joshi H; Churko J; Arbuckle S; Kirk E; Roscioli T; Gregorio C; Cooper S, 2021, 'Neonatal-lethal dilated cardiomyopathy due to a homozygous LMOD2 donor splice-site variant', NEUROMUSCULAR DISORDERS, 31, pp. S142 - S142, http://dx.doi.org/10.1016/j.nmd.2021.07.328

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

Kirk EP; Ong R; Boggs K; Hardy T; Righetti S; Kamien B; Roscioli T; Amor DJ; Bakshi M; Chung CWT; Colley A; Jamieson RV; Liebelt J; Ma A; Pachter N; Rajagopalan S; Ravine A; Wilson M; Caruana J; Casella R; Davis M; Edwards S; Archibald A; McGaughran J; Newson AJ; Laing NG; Delatycki MB, 2021, 'Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”)', European Journal of Human Genetics, 29, pp. 79 - 87, http://dx.doi.org/10.1038/s41431-020-0685-x

Buckley MF; Roscioli T, 2021, 'Exomes in prenatal testing: an introduction to the pregen study', Pathology, 53, pp. S10 - S10, http://dx.doi.org/10.1016/j.pathol.2021.05.039

Lessel D; Zeitler DM; Reijnders MRF; Kazantsev A; Hassani Nia F; Bartholomäus A; Martens V; Bruckmann A; Graus V; McConkie-Rosell A; McDonald M; Lozic B; Tan ES; Gerkes E; Johannsen J; Denecke J; Telegrafi A; Zonneveld-Huijssoon E; Lemmink HH; Cham BWM; Kovacevic T; Ramsdell L; Foss K; Le Duc D; Mitter D; Syrbe S; Merkenschlager A; Sinnema M; Panis B; Lazier J; Osmond M; Hartley T; Mortreux J; Busa T; Missirian C; Prasun P; Lüttgen S; Mannucci I; Lessel I; Schob C; Kindler S; Pappas J; Rabin R; Willemsen M; Gardeitchik T; Löhner K; Rump P; Dias KR; Evans CA; Andrews PI; Roscioli T; Brunner HG; Chijiwa C; Lewis MES; Jamra RA; Dyment DA; Boycott KM; Stegmann APA; Kubisch C; Tan EC; Mirzaa GM; McWalter K; Kleefstra T; Pfundt R; Ignatova Z; Meister G; Kreienkamp HJ, 2020, 'Germline AGO2 mutations impair RNA interference and human neurological development', Nature Communications, 11, http://dx.doi.org/10.1038/s41467-020-19572-5

Lunke S; Eggers S; Wilson M; Patel C; Barnett CP; Pinner J; Sandaradura SA; Buckley MF; Krzesinski EI; de Silva MG; Brett GR; Boggs K; Mowat D; Kirk EP; Adès LC; Akesson LS; Amor DJ; Ayres S; Baxendale A; Borrie S; Bray A; Brown NJ; Chan CY; Chong B; Cliffe C; Delatycki MB; Edwards M; Elakis G; Fahey MC; Fennell A; Fowles L; Gallacher L; Higgins M; Howell KB; Hunt L; Hunter MF; Jones KJ; King S; Kumble S; Lang S; Le Moing M; Ma A; Phelan D; Quinn MCJ; Richards A; Richmond CM; Riseley J; Rodgers J; Sachdev R; Sadedin S; Schlapbach LJ; Smith J; Springer A; Tan NB; Tan TY; Temple SL; Theda C; Vasudevan A; White SM; Yeung A; Zhu Y; Martyn M; Best S; Roscioli T; Christodoulou J; Stark Z, 2020, 'Feasibility of ultra-rapid exome sequencing in critically ill infants and children with suspected monogenic conditions in the australian public health care system', Obstetrical and Gynecological Survey, 75, pp. 662 - 664, http://dx.doi.org/10.1097/01.ogx.0000722040.32795.04

Kaur S; Van Bergen NJ; Verhey KJ; Nowell CJ; Budaitis B; Yue Y; Ellaway C; Brunetti-Pierri N; Cappuccio G; Bruno I; Boyle L; Nigro V; Torella A; Roscioli T; Cowley MJ; Massey S; Sonawane R; Burton MD; Schonewolf-Greulich B; Tümer Z; Chung WK; Gold WA; Christodoulou J, 2020, 'Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A)', Human Mutation, 41, pp. 1761 - 1774, http://dx.doi.org/10.1002/humu.24079

Justice CM; Cuellar A; Bala K; Sabourin JA; Cunningham ML; Crawford K; Phipps JM; Zhou Y; Cilliers D; Byren JC; Johnson D; Wall SA; Morton JEV; Noons P; Sweeney E; Weber A; Rees KEM; Wilson LC; Simeonov E; Kaneva R; Yaneva N; Georgiev K; Bussarsky A; Senders C; Zwienenberg M; Boggan J; Roscioli T; Tamburrini G; Barba M; Conway K; Sheffield VC; Brody L; Mills JL; Kay D; Sicko RJ; Langlois PH; Tittle RK; Botto LD; Jenkins MM; LaSalle JM; Lattanzi W; Wilkie AOM; Wilson AF; Romitti PA; Boyadjiev SA, 2020, 'A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis', Human Genetics, 139, pp. 1077 - 1090, http://dx.doi.org/10.1007/s00439-020-02157-z

Riley LG; Rudinger-Thirion J; Frugier M; Wilson M; Luig M; Alahakoon TI; Nixon CY; Kirk EP; Roscioli T; Lunke S; Stark Z; Wierenga KJ; Palle S; Walsh M; Higgs E; Arbuckle S; Thirukeswaran S; Compton AG; Thorburn DR; Christodoulou J, 2020, 'The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy', Human Mutation, 41, pp. 1425 - 1434, http://dx.doi.org/10.1002/humu.24050

LeBlanc S; Naveen D; Haan E; Barnett C; Rawlings L; Roscioli T; Poplawski N, 2020, 'CDH1-related blepharocheilodontic syndrome is associated with diffuse gastric cancer risk', American Journal of Medical Genetics, Part A, 182, pp. 1780 - 1784, http://dx.doi.org/10.1002/ajmg.a.61601

Doble B; Schofield D; Evans CA; Groza T; Mattick JS; Field M; Roscioli T, 2020, 'Impacts of genomics on the health and social costs of intellectual disability', Journal of Medical Genetics, 57, pp. 479 - 486, http://dx.doi.org/10.1136/jmedgenet-2019-106445

Lunke S; Eggers S; Wilson M; Patel C; Barnett CP; Pinner J; Sandaradura SA; Buckley MF; Krzesinski EI; De Silva MG; Brett GR; Boggs K; Mowat D; Kirk EP; Adès LC; Akesson LS; Amor DJ; Ayres S; Baxendale A; Borrie S; Bray A; Brown NJ; Chan CY; Chong B; Cliffe C; Delatycki MB; Edwards M; Elakis G; Fahey MC; Fennell A; Fowles L; Gallacher L; Higgins M; Howell KB; Hunt L; Hunter MF; Jones KJ; King S; Kumble S; Lang S; Le Moing M; Ma A; Phelan D; Quinn MCJ; Richards A; Richmond CM; Riseley J; Rodgers J; Sachdev R; Sadedin S; Schlapbach LJ; Smith J; Springer A; Tan NB; Tan TY; Temple SL; Theda C; Vasudevan A; White SM; Yeung A; Zhu Y; Martyn M; Best S; Roscioli T; Christodoulou J; Stark Z, 2020, 'Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children with Suspected Monogenic Conditions in the Australian Public Health Care System', JAMA - Journal of the American Medical Association, 323, pp. 2503 - 2511, http://dx.doi.org/10.1001/jama.2020.7671

Van Eyck L; Bruni F; Ronan A; Briggs TA; Roscioli T; Rice GI; Vassallo G; Rodero MP; He L; Taylor RW; Livingston JH; Chrzanowska-Lightowlers ZMA; Crow YJ, 2020, 'Biallelic Mutations in MTPAP Associated with a Lethal Encephalopathy', Neuropediatrics, 51, pp. 178 - 184, http://dx.doi.org/10.1055/s-0039-3400979

Selvanathan A; Nixon CY; Zhu Y; Scietti L; Forneris F; Moreno Uribe LM; Lidral AC; Jezewski PA; Mulliken JB; Murray JC; Buckley MF; Cox TC; Roscioli T, 2020, 'CDH1 mutation distribution and type suggests genetic differences between the etiology of orofacial clefting and gastric cancer', Genes, 11, pp. 391, http://dx.doi.org/10.3390/genes11040391

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