Journal articles
Nevin SM; Le Marne FA; Beavis E; Macintosh R; Palmer EE; Sachdev R; Nunn K; Bye A; van Beek A; Wittekind C; Shalhoub C; Lau CYY; Elliot C; Rogers D; Wijetilaka D; Argent E; Cotterell E; Jacobson EE; McCarthy H; Sampaio H; Dalby-Payne J; Ging J; Doyle K; Bhattacharya K; Stark K; Lorentzos M; Slade R; Evans R; Pillai S; Mohammad S; Piper S; Sarkozy V, 2024, 'Psychosocial experiences of clinicians providing care for children with severe neurological impairment', Developmental Medicine and Child Neurology, 66, pp. 1622 - 1631, http://dx.doi.org/10.1111/dmcn.15987
van der Sluijs PJ; Moutton S; Dingemans AJM; Weis D; Levy MA; Boycott KM; Arberas C; Baldassarri M; Beneteau C; Brusco A; Coutton C; Dabir T; Dentici ML; Devriendt K; Faivre L; van Haelst MM; Jizi K; Kempers MJ; Kerkhof J; Kharbanda M; Lachlan K; Marle N; McConkey H; Mencarelli MA; Mowat D; Niceta M; Nicolas C; Novelli A; Orlando V; Pichon O; Rankin J; Relator R; Ropers FG; Rosenfeld JA; Sachdev R; Sandaradura SA; Shukarova-Angelovska E; Steenbeek D; Tartaglia M; Tedder MA; Trajkova S; Winer N; Woods J; de Vries BBA; Sadikovic B; Alders M; Santen GWE, 2024, 'Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy.', Genet Med, pp. 101283, http://dx.doi.org/10.1016/j.gim.2024.101283
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
Harms FL; Rexach JE; Efthymiou S; Aynekin B; Per H; Güleç A; Nampoothiri S; Sampaio H; Sachdev R; Stoeva R; Myers K; Pena LDM; Kalfa TA; Chard M; Klassen M; Pries M; Kutsche K, 2024, 'Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth', European Journal of Human Genetics, 32, pp. 558 - 566, http://dx.doi.org/10.1038/s41431-024-01563-5
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 L; 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
Innes EA; Marne FAL; Macintosh R; Nevin SM; Briggs NE; Vivekanandarajah S; Webster RI; Sachdev RK; Bye AME, 2024, 'Neurodevelopmental outcomes in a cohort of Australian families with self-limited familial epilepsy of neonatal/infantile onset', Seizure, 115, pp. 1 - 13, http://dx.doi.org/10.1016/j.seizure.2023.12.013
Robertson EG; Kelada L; Best S; Goranitis I; Pierce K; Roberts NJ; Sachdev R; Le Marne F; Macintosh R; Beavis E; Bye A; Palmer EE, 2024, 'Quality of life in caregivers of a child with a developmental and epileptic encephalopathy', Developmental Medicine and Child Neurology, 66, pp. 206 - 215, http://dx.doi.org/10.1111/dmcn.15695
Kooshavar D; Amor DJ; Boggs K; Baker N; Barnett C; de Silva MG; Edwards S; Fahey MC; Marum JE; Snell P; Bozaoglu K; Pope K; Mohammad SS; Riney K; Sachdev R; Scheffer IE; Schenscher S; Silberstein J; Smith N; Tom M; Ware TL; Lockhart PJ; Leventer RJ, 2024, 'Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations.', Brain Commun, 6, pp. fcae056, http://dx.doi.org/10.1093/braincomms/fcae056
Robertson EG; Roberts NJ; Le Marne F; Beavis E; Macintosh R; Kelada L; Best S; Goranitis I; Pierce K; Gill D; Sachdev R; Bye A; Palmer EE, 2023, '“Somewhere to turn to with my questions”: A pre-post pilot of an information linker service for caregivers who have a child with a Developmental and Epileptic Encephalopathy', European Journal of Paediatric Neurology, 47, pp. 94 - 104, http://dx.doi.org/10.1016/j.ejpn.2023.09.010
Selvanathan A; Macintosh R; Johnson A; Sarkozy V; Neville K; Sachdev R, 2023, 'Challenges in seizure control in ATP6V0C deficiency: A longitudinal case report', Epileptic Disorders, 25, pp. 783 - 786, http://dx.doi.org/10.1002/epd2.20097
Wojcik MH; Srivastava S; Agrawal PB; Balci TB; Callewaert B; Calvo PL; Carli D; Caudle M; Colaiacovo S; Cross L; Demetriou K; Drazba K; Dutra-Clarke M; Edwards M; Genetti CA; Grange DK; Hickey SE; Isidor B; Küry S; Lachman HM; Lavillaureix A; Lyons MJ; Marcelis C; Marco EJ; Martinez-Agosto JA; Nowak C; Pizzol A; Planes M; Prijoles EJ; Riberi E; Rush ET; Russell BE; Sachdev R; Schmalz B; Shears D; Stevenson DA; Wilson K; Jansen S; de Vries BBA; Curry CJ, 2023, 'Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families', American Journal of Medical Genetics, Part A, 191, pp. 1900 - 1910, http://dx.doi.org/10.1002/ajmg.a.63226
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
Palmer EE; Pusch M; Picollo A; Forwood C; Nguyen MH; Suckow V; Gibbons J; Hoff A; Sigfrid L; Megarbane A; Nizon M; Cogné B; Beneteau C; Alkuraya FS; Chedrawi A; Hashem MO; Stamberger H; Weckhuysen S; Vanlander A; Ceulemans B; Rajagopalan S; Nunn K; Arpin S; Raynaud M; Motter CS; Ward-Melver C; Janssens K; Meuwissen M; Beysen D; Dikow N; Grimmel M; Haack TB; Clement E; McTague A; Hunt D; Townshend S; Ward M; Richards LJ; Simons C; Costain G; Dupuis L; Mendoza-Londono R; Dudding-Byth T; Boyle J; Saunders C; Fleming E; El Chehadeh S; Spitz MA; Piton A; Gerard B; Abi Warde MT; Rea G; McKenna C; Douzgou S; Banka S; Akman C; Bain JM; Sands TT; Wilson GN; Silvertooth EJ; Miller L; Lederer D; Sachdev R; Macintosh R; Monestier O; Karadurmus D; Collins F; Carter M; Rohena L; Willemsen MH; Ockeloen CW; Pfundt R; Kroft SD; Field M; Laranjeira FER; Fortuna AM; Soares AR; Michaud V; Naudion S; Golla S; Weaver DD; Bird LM; Friedman J; Clowes V; Joss S; Pölsler L; Campeau PM; Blazo M; Bijlsma EK; Rosenfeld JA; Beetz C; Powis Z; McWalter K; Brandt T; Torti E; Mathot M; Mohammad SS; Armstrong R; Kalscheuer VM, 2023, 'Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition', Molecular Psychiatry, 28, pp. 668 - 697, http://dx.doi.org/10.1038/s41380-022-01852-9
Le Marne FA; Briggs N; Frith K; Kariyawasam D; McCarthy HJ; Nunn K; Rao A; Sachdev R; Sarkozy V; Teng A; Trethewie S; Williams GD; Bye AME, 2023, 'Understanding the ongoing learning needs of Australian paediatricians: Evaluation of a pilot paediatric video teaching programme', Journal of Paediatrics and Child Health, 59, pp. 307 - 318, http://dx.doi.org/10.1111/jpc.16291
Byrne AB; Arts P; Ha TT; Kassahn KS; Pais LS; O’Donnell-Luria A; Aguet F; Arachchi HM; Austin-Tse CA; Babb L; Baxter SM; Brand H; Chang J; Chao KR; Collins RL; Cummings B; Delano K; DiTroia SP; England E; Evangelista E; Everett S; Francioli LC; Fu J; Ganesh VS; Garimella KV; Gauthier LD; Goodrich JK; Gudmundsson S; Hall SJ; Huang Y; Jahl S; Laricchia KM; Larkin KE; Lek M; Lemire G; Lipson RB; Lovgren AK; MacArthur DG; Mangilog BE; Mano S; Marshall JL; Mullen TE; Nguyen KK; O’Heir E; O’Leary MC; Osei-Owusu IA; de Acha Chavez JP; Pierce-Hoffman E; Rehm HL; Serrano J; Singer-Berk M; Snow H; Solomonson M; Son RG; Sveden A; Talkowski M; Tiao G; Udler MS; Valivullah Z; Valkanas E; VanNoy GE; Wang QS; Watts NA; Weisburd B; Williamson CE; Wilson MW; Witzgall L; Wojcik MH; Wong I; Wood JC; Zhang S; Babic M; Frank MSB; Feng J; Wang P; Lawrence DM; Eshraghi L; Arriola L; Toubia J; Nguyen H; Abeysuriya D; Ades LC; Amor DJ; Arbuckle S; Bakshi M; Berry B; Boughtwood T; Bournazos A; Bray A; Chan F; Chan Y; Chung C; Clark J; Collett J; Colley A; Collins F; Cooper S; Corbett MA; Dahlstrom JE; Dargaville P, 2023, 'Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death', Nature Medicine, 29, pp. 180 - 189, http://dx.doi.org/10.1038/s41591-022-02142-1
Kuanyshbek A; Wang M; Anderson Å; Tuifua M; Palmer EE; Sachdev RK; Mu TW; Vetter I; Keramidas A, 2022, 'Anti-seizure mechanisms of midazolam and valproate at the β2(L51M) variant of the GABAA receptor', Neuropharmacology, 221, http://dx.doi.org/10.1016/j.neuropharm.2022.109295
Nevin SM; Wakefield CE; Dadich A; LeMarne F; Macintosh R; Beavis E; Sachdev R; Bye A; Nunn K; Palmer EE, 2022, 'Hearing parents' voices: A priority-setting workshop to inform a suite of psychological resources for parents of children with rare genetic epilepsies', PEC Innovation, 1, http://dx.doi.org/10.1016/j.pecinn.2021.100014
Halliday BJ; Baynam G; Ewans L; Greenhalgh L; Leventer RJ; Pilz DT; Sachdev R; Scheffer IE; Markie DM; Mcgillivray G; Robertson SP; Mandelstam S, 2022, 'Distinctive Brain Malformations in Zhu-Tokita-Takenouchi- Kim Syndrome', American Journal of Neuroradiology, 43, pp. 1660 - 1666, http://dx.doi.org/10.3174/ajnr.A7663
Robertson EG; Kelada L; Best S; Goranitis I; Grainger N; Le Marne F; Pierce K; Nevin SM; Macintosh R; Beavis E; Sachdev R; Bye A; Palmer EE, 2022, 'Acceptability and feasibility of an online information linker service for caregivers who have a child with genetic epilepsy: A mixed-method pilot study protocol', BMJ Open, 12, pp. e063249, http://dx.doi.org/10.1136/bmjopen-2022-063249
Nevin SM; Beavis E; Macintosh R; Palmer EE; Sachdev R; Le Marne FA; Bye AME; Nunn K, 2022, 'Hope in the uncertainties and certainty for parents of children with rare neurological disorders: Part 2 (of 3): Certainty', Journal of Paediatrics and Child Health, 58, pp. 1722 - 1725, http://dx.doi.org/10.1111/jpc.16202
Bye AME; Le Marne FA; Beavis E; Macintosh R; Nevin SM; Palmer EE; Sachdev R; Nunn K, 2022, 'Hope in the uncertainties and certainty for parents of children with rare neurological disorders: Part 3 (of 3): Hope', Journal of Paediatrics and Child Health, 58, pp. 1726 - 1728, http://dx.doi.org/10.1111/jpc.16187
Palmer EE; Sachdev R; Beavis E; Macintosh R; Le Marne FA; Nevin SM; Bye AME; Nunn K, 2022, 'Hope in the uncertainties and certainty for parents of children with rare neurological disorders. Part I (of 3): Uncertainty', Journal of Paediatrics and Child Health, 58, pp. 1718 - 1721, http://dx.doi.org/10.1111/jpc.16165
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
Shimada S; Ng BG; White AL; Nickander KK; Turgeon C; Liedtke KL; Lam CT; Font-Montgomery E; Lourenco CM; He M; Peck DS; Umana LA; Uhles CL; Haynes D; Wheeler PG; Bamshad MJ; Nickerson DA; Cushing T; Gates R; Gomez-Ospina N; Byers HM; Scalco FB; Martinez NN; Sachdev R; Smith L; Poduri A; Malone S; Harris RV; Scheffer IE; Rosenzweig SD; Adams DR; Gahl WA; Malicdan MCV; Raymond KM; Freeze HH; Wolfe LA, 2022, 'Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation', Journal of Medical Genetics, 59, pp. 1104 - 1115, http://dx.doi.org/10.1136/jmedgenet-2021-108177
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
Dingemans AJM; Truijen KMG; Kim JH; Alaçam Z; Faivre L; Collins KM; Gerkes EH; van Haelst M; van de Laar IMBH; Lindstrom K; Nizon M; Pauling J; Heropolitańska-Pliszka E; Plomp AS; Racine C; Sachdev R; Sinnema M; Skranes J; Veenstra-Knol HE; Verberne EA; Vulto-van Silfhout AT; Wilsterman MEF; Ahn EYE; de Vries BBA; Vissers LELM, 2022, 'Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON', European Journal of Human Genetics, 30, pp. 271 - 281, http://dx.doi.org/10.1038/s41431-021-00960-4
Nevin SM; Wakefield CE; Le Marne F; Beavis E; Macintosh R; Sachdev R; Bye A; Palmer EE; Nunn K, 2022, 'Piloting positive psychology resources for caregivers of a child with a genetic developmental and epileptic encephalopathy', European Journal of Paediatric Neurology, 37, pp. 129 - 138, http://dx.doi.org/10.1016/j.ejpn.2022.01.022
Migliore C; Vendramin A; McKee S; Prontera P; Faravelli F; Sachdev R; Dias P; Mascaro M; Licastro D; Meroni G, 2022, 'SPECC1L Mutations Are Not Common in Sporadic Cases of Opitz G/BBB Syndrome.', Genes (Basel), 13, http://dx.doi.org/10.3390/genes13020252
Shah M; Selvanathan A; Baynam G; Berman Y; Boughtwood T; Freckmann ML; Parasivam G; White SM; Grainger N; Kirk EP; Ma ASL; Sachdev R, 2022, 'Paediatric genomic testing: Navigating genomic reports for the general paediatrician', Journal of Paediatrics and Child Health, 58, pp. 8 - 15, http://dx.doi.org/10.1111/jpc.15703
Nevin SM; Wakefield CE; Barlow-Stewart K; McGill BC; Bye A; Palmer EE; Dale RC; Gill D; Kothur K; Boggs K; Le Marne F; Beavis E; Macintosh R; Sachdev R, 2022, 'Psychosocial impact of genetic testing on parents of children with developmental and epileptic encephalopathy', Developmental Medicine and Child Neurology, 64, pp. 95 - 104, http://dx.doi.org/10.1111/dmcn.14971
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
Salian S; Scala M; Nguyen TTM; Severino M; Accogli A; Amadori E; Torella A; Pinelli M; Hudson B; Boothe M; Hurst A; Ben-Omran T; Larsen MJ; Fagerberg CR; Sperling L; Miceikaite I; Herissant L; Doco-Fenzy M; Jennesson M; Nigro V; Striano P; Minetti C; Sachdev RK; Palmer EE; Capra V; Campeau PM, 2021, 'Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype–phenotype spectrum and functional impact on GPI-anchored proteins', Clinical Genetics, 100, pp. 607 - 614, http://dx.doi.org/10.1111/cge.14033
Tremblay-Laganière C; Maroofian R; Nguyen TTM; Karimiani EG; Kirmani S; Akbar F; Ibrahim S; Afroze B; Doosti M; Ashrafzadeh F; Babaei M; Efthymiou S; Christoforou M; Sultan T; Ladda RL; McLaughlin HM; Truty R; Mahida S; Cohen JS; Baranano K; Ismail FY; Patel MS; Lehman A; Edmondson AC; Nagy A; Walker MA; Mercimek-Andrews S; Maki Y; Sachdev R; Macintosh R; Palmer EE; Mancini GMS; Barakat TS; Steinfeld R; Rüsch CT; Stettner GM; Wagner M; Wortmann SB; Kini U; Brady AF; Stals KL; Ismayilova N; Ellard S; Bernardo D; Nugent K; McLean SD; Antonarakis SE; Houlden H; Kinoshita T; Campeau PM; Murakami Y, 2021, 'PIGG variant pathogenicity assessment reveals characteristic features within 19 families', Genetics in Medicine, 23, pp. 1873 - 1881, http://dx.doi.org/10.1038/s41436-021-01215-9
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
Pandelache A; Francis D; Oertel R; Dickson R; Sachdev R; Ling L; Gamage D; Godler DE, 2021, 'Detection of Cryptic Fragile X Full Mutation Alleles by Southern Blot in a Female and Her Foetal DNA via Chorionic Villus Sampling, Complicated by Mosaicism for 45,X0/46,XX/47,XXX.', Genes (Basel), 12, http://dx.doi.org/10.3390/genes12060798
Vetro A; Nielsen HN; Holm R; Hevner RF; Parrini E; Powis Z; Møller RS; Bellan C; Simonati A; Lesca G; Helbig KL; Palmer EE; Mei D; Ballardini E; Van Haeringen A; Syrbe S; Leuzzi V; Cioni G; Curry CJ; Costain G; Santucci M; Chong K; Mancini GMS; Clayton-Smith J; Bigoni S; Scheffer IE; Dobyns WB; Vilsen B; Guerrini R; Sanlaville D; Sachdev R; Andrews I; Mari F; Cavalli A; Barba C; De Maria B; Garani G; Lemke JR; Mastrangelo M; Tam E; Donner E; Branson H; Monteiro FP; Kok F; Howell KB; Leech S; Mefford H; Muir A, 2021, 'ATP1A2-and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria', Brain, 144, pp. 1435 - 1450, http://dx.doi.org/10.1093/brain/awab052
Sachdev R; Field M; Baynam GS; Beilby J; Berarducci M; Berman Y; Boughtwood T; Cusack MB; Fitzgerald V; Fletcher J; Freckmann ML; Grainger N; Kirk E; Lundie B; Lunke S; McGregor L; Mowat D; Parasivam G; Tyrell V; Wallis M; White SM; S L Ma A, 2021, 'Paediatric genomic testing: Navigating medicare rebatable genomic testing', Journal of Paediatrics and Child Health, 57, pp. 477 - 483, http://dx.doi.org/10.1111/jpc.15382
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
Palmer EE; Carroll R; Shaw M; Kumar R; Minoche AE; Leffler M; Murray L; Macintosh R; Wright D; Troedson C; McKenzie F; Townshend S; Ward M; Nawaz U; Ravine A; Runke CK; Thorland EC; Hummel M; Foulds N; Pichon O; Isidor B; Le Caignec C; Demeer B; Andrieux J; Albarazi SH; Bye A; Sachdev R; Kirk EP; Cowley MJ; Field M; Gecz J, 2020, 'RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features', American Journal of Human Genetics, 107, pp. 1157 - 1169, http://dx.doi.org/10.1016/j.ajhg.2020.10.005
Temple SEL; Sachdev R; Ellaway C, 2020, 'Familial DHCR7 genotype presenting as a very mild form of Smith-Lemli-Opitz syndrome and lethal holoprosencephaly', JIMD Reports, 56, pp. 3 - 8, http://dx.doi.org/10.1002/jmd2.12155
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
Harms FL; Parthasarathy P; Zorndt D; Alawi M; Fuchs S; Halliday BJ; McKeown C; Sampaio H; Radhakrishnan N; Radhakrishnan SK; Gorce M; Navet B; Ziegler A; Sachdev R; Robertson SP; Nampoothiri S; Kutsche K, 2020, 'Biallelic loss-of-function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth', Human Mutation, 41, pp. 1645 - 1661, http://dx.doi.org/10.1002/humu.24071
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
Sekiguchi F; Tsurusaki Y; Okamoto N; Teik KW; Mizuno S; Suzumura H; Isidor B; Ong WP; Haniffa M; White SM; Matsuo M; Saito K; Phadke S; Kosho T; Yap P; Goyal M; Clarke LA; Sachdev R; McGillivray G; Leventer RJ; Patel C; Yamagata T; Osaka H; Hisaeda Y; Ohashi H; Shimizu K; Nagasaki K; Hamada J; Dateki S; Sato T; Chinen Y; Awaya T; Kato T; Iwanaga K; Kawai M; Matsuoka T; Shimoji Y; Tan TY; Kapoor S; Gregersen N; Rossi M; Marie-Laure M; McGregor L; Oishi K; Mehta L; Gillies G; Lockhart PJ; Pope K; Shukla A; Girisha KM; Abdel-Salam GMH; Mowat D; Coman D; Kim OH; Cordier MP; Gibson K; Milunsky J; Liebelt J; Cox H; El Chehadeh S; Toutain A; Saida K; Aoi H; Minase G; Tsuchida N; Iwama K; Uchiyama Y; Suzuki T; Hamanaka K; Azuma Y; Fujita A; Imagawa E; Koshimizu E; Takata A; Mitsuhashi S; Miyatake S; Mizuguchi T; Miyake N; Matsumoto N, 2019, 'Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients', Journal of Human Genetics, 64, pp. 1173 - 1186, http://dx.doi.org/10.1038/s10038-019-0667-4
Nabais Sá MJ; Jensik PJ; McGee SR; Parker MJ; Lahiri N; McNeil EP; Kroes HY; Hagerman RJ; Harrison RE; Montgomery T; Splitt M; Palmer EE; Sachdev RK; Mefford HC; Scott AA; Martinez-Agosto JA; Lorenz R; Orenstein N; Berg JN; Amiel J; Heron D; Keren B; Cobben JM; Menke LA; Marco EJ; Graham JM; Pierson TM; Karimiani EG; Maroofian R; Manzini MC; Cauley ES; Colombo R; Odent S; Dubourg C; Phornphutkul C; de Brouwer APM; de Vries BBA; Vulto-vanSilfhout AT; Palmer E, 2019, 'De novo and biallelic DEAF1 variants cause a phenotypic spectrum', Genetics in Medicine, 21, pp. 2059 - 2069, http://dx.doi.org/10.1038/s41436-019-0473-6
Palmer EE; Hong S; Al Zahrani F; Hashem MO; Aleisa FA; Ahmed HMJ; Kandula T; Macintosh R; Minoche AE; Puttick C; Gayevskiy V; Drew AP; Cowley MJ; Dinger M; Rosenfeld JA; Xiao R; Cho MT; Yakubu SF; Henderson LB; Guillen Sacoto MJ; Begtrup A; Hamad M; Shinawi M; Andrews MV; Jones MC; Lindstrom K; Bristol RE; Kayani S; Snyder M; Villanueva MM; Schteinschnaider A; Faivre L; Thauvin C; Vitobello A; Roscioli T; Kirk EP; Bye A; Merzaban J; Jaremko Ł; Jaremko M; Sachdev RK; Alkuraya FS; Arold ST; Palmer E, 2019, 'De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome', American Journal of Human Genetics, 104, pp. 542 - 552, http://dx.doi.org/10.1016/j.ajhg.2019.01.013
Ewans LJ; Schofield D; Shrestha R; Zhu Y; Gayevskiy V; Ying K; Walsh C; Lee E; Kirk EP; Colley A; Ellaway C; Turner A; Mowat D; Worgan L; Freckmann ML; Lipke M; Sachdev R; Miller D; Field M; Dinger ME; Buckley MF; Cowley MJ; Roscioli T, 2018, 'Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders', Genetics in Medicine, 20, pp. 1564 - 1574, http://dx.doi.org/10.1038/gim.2018.39
Lee E; Le T; Zhu Y; Elakis G; Turner A; Lo W; Venselaar H; Verrenkamp CA; Snow N; Mowat D; Kirk EP; Sachdev R; Smith J; Brown NJ; Wallis M; Barnett C; McKenzie F; Freckmann ML; Collins F; Chopra M; Gregersen N; Hayes I; Rajagopalan S; Tan TY; Stark Z; Savarirayan R; Yeung A; Adès L; Gattas M; Gibson K; Gabbett M; Amor DJ; Lattanzi W; Boyd S; Haan E; Gianoutsos M; Cox TC; Buckley MF; Roscioli T, 2018, 'A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations', Genetics in Medicine, 20, pp. 1061 - 1068, http://dx.doi.org/10.1038/gim.2017.214
Ravenscroft G; Pannell S; O'Grady G; Ong R; Ee HC; Faiz F; Marns L; Goel H; Kumarasinghe P; Sollis E; Sivadorai P; Wilson M; Magoffin A; Nightingale S; Freckmann ML; Kirk EP; Sachdev R; Lemberg DA; Delatycki MB; Kamm MA; Basnayake C; Lamont PJ; Amor DJ; Jones K; Schilperoort J; Davis MR; Laing NG, 2018, 'Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo-obstruction', Neurogastroenterology and Motility, 30, http://dx.doi.org/10.1111/nmo.13371
Dagar V; Hutchison W; Muscat A; Krishnan A; Hoke D; Buckle A; Siswara P; Amor DJ; Mann J; Pinner J; Colley A; Wilson M; Sachdev R; McGillivray G; Edwards M; Kirk E; Collins F; Jones K; Taylor J; Hayes I; Thompson E; Barnett C; Haan E; Freckmann ML; Turner A; White S; Kamien B; Ma A; Mackenzie F; Baynam G; Kiraly-Borri C; Field M; Dudding-Byth T; Algar EM, 2018, 'Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome', Clinical Epigenetics, 10, http://dx.doi.org/10.1186/s13148-018-0546-4
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