Journal articles
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
Kumar KR; Wali G; Davis RL; Mallawaarachchi AC; Palmer EE; Gayevskiy V; Minoche AE; Veivers D; Dinger ME; Mackay-Sim A; Cowley MJ; Sue CM; Palmer E, 2018, 'Expanding the spectrum of PEX16 mutations and novel insights into disease mechanisms', Molecular Genetics and Metabolism Reports, 16, pp. 46 - 51, http://dx.doi.org/10.1016/j.ymgmr.2018.07.003
Kumar R; Gardner A; Homan CC; Douglas E; Mefford H; Wieczorek D; Lüdecke HJ; Stark Z; Sadedin S; Nowak CB; Douglas J; Parsons G; Mark P; Loidi L; Herman GE; Mihalic Mosher T; Gillespie MK; Brady L; Tarnopolsky M; Madrigal I; Eiris J; Domènech Salgado L; Rabionet R; Strom TM; Ishihara N; Inagaki H; Kurahashi H; Dudding-Byth T; Palmer EE; Field M; Gecz J; Palmer E, 2018, 'Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery', Human Mutation, 39, pp. 1126 - 1138, http://dx.doi.org/10.1002/humu.23557
Cheng H; Dharmadhikari AV; Varland S; Ma N; Domingo D; Kleyner R; Rope AF; Yoon M; Stray-Pedersen A; Posey JE; Crews SR; Eldomery MK; Akdemir ZC; Lewis AM; Sutton VR; Rosenfeld JA; Conboy E; Agre K; Xia F; Walkiewicz M; Longoni M; High FA; van Slegtenhorst MA; Mancini GMS; Finnila CR; van Haeringen A; den Hollander N; Ruivenkamp C; Naidu S; Mahida S; Palmer EE; Murray L; Lim D; Jayakar P; Parker MJ; Giusto S; Stracuzzi E; Romano C; Beighley JS; Bernier RA; Küry S; Nizon M; Corbett MA; Shaw M; Gardner A; Barnett C; Armstrong R; Kassahn KS; Van Dijck A; Vandeweyer G; Kleefstra T; Schieving J; Jongmans MJ; de Vries BBA; Pfundt R; Kerr B; Rojas SK; Boycott KM; Person R; Willaert R; Eichler EE; Kooy RF; Yang Y; Wu JC; Lupski JR; Arnesen T; Cooper GM; Chung WK; Gecz J; Stessman HAF; Meng L; Lyon GJ; Palmer E, 2018, 'Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies', American Journal of Human Genetics, 102, pp. 985 - 994, http://dx.doi.org/10.1016/j.ajhg.2018.03.004
Palmer EE; Schofield D; Shrestha R; Kandula T; Macintosh R; Lawson JA; Andrews I; Sampaio H; Johnson AM; Farrar MA; Cardamone M; Mowat D; Elakis G; Lo W; Zhu Y; Ying K; Morris P; Tao J; Dias KR; Buckley M; Dinger ME; Cowley MJ; Roscioli T; Kirk EP; Bye A; Sachdev RK; Palmer E, 2018, 'Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness', Molecular Genetics and Genomic Medicine, 6, pp. 186 - 199, http://dx.doi.org/10.1002/mgg3.355
Gennarino VA; Palmer EE; McDonell LM; Wang L; Adamski CJ; Koire A; See L; Chen CA; Schaaf CP; Rosenfeld JA; Panzer JA; Moog U; Hao S; Bye A; Kirk EP; Stankiewicz P; Breman AM; McBride A; Kandula T; Dubbs HA; Macintosh R; Cardamone M; Zhu Y; Ying K; Dias KR; Cho MT; Henderson LB; Baskin B; Morris P; Tao J; Cowley MJ; Dinger ME; Roscioli T; Caluseriu O; Suchowersky O; Sachdev RK; Lichtarge O; Tang J; Boycott KM; Holder JL; Zoghbi HY; Palmer E, 2018, 'A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures', Cell, 172, pp. 924 - 936.e11, http://dx.doi.org/10.1016/j.cell.2018.02.006
Palmer EE; Stuhlmann T; Weinert S; Haan E; Van Esch H; Holvoet M; Boyle J; Leffler M; Raynaud M; Moraine C; Van Bokhoven H; Kleefstra T; Kahrizi K; Najmabadi H; Ropers HH; Delgado MR; Sirsi D; Golla S; Sommer A; Pietryga MP; Chung WK; Wynn J; Rohena L; Bernardo E; Hamlin D; Faux BM; Grange DK; Manwaring L; Tolmie J; Joss S; Study DDD; Cobben JM; Duijkers FAM; Goehringer JM; Challman TD; Hennig F; Fischer U; Grimme A; Suckow V; Musante L; Nicholl J; Shaw M; Lodh SP; Niu Z; Rosenfeld JA; Stankiewicz P; Jentsch TJ; Gecz J; Field M; Kalscheuer VM; Palmer E, 2018, 'De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females', Molecular Psychiatry, 23, pp. 222 - 230, http://dx.doi.org/10.1038/mp.2016.135
Palmer EE; Kumar R; Gordon CT; Shaw M; Hubert L; Carroll R; Rio M; Murray L; Leffler M; Dudding-Byth T; Oufadem M; Lalani SR; Lewis AM; Xia F; Tam A; Webster R; Brammah S; Filippini F; Pollard J; Spies J; Minoche AE; Cowley MJ; Risen S; Powell-Hamilton NN; Tusi JE; Immken LD; Nagakura H; Bole-Feysot C; Nitschké P; Garrigue A; de Saint Basile G; Kivuva E; Scott RH; Rendon A; Munnich A; Newman W; Kerr B; Besmond C; Rosenfeld JA; Amiel J; Field M; Gecz J; Palmer E, 2017, 'A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations', American Journal of Human Genetics, 101, pp. 995 - 1005, http://dx.doi.org/10.1016/j.ajhg.2017.10.009
Gururaj S; Palmer EE; Sheehan GD; Kandula T; Macintosh R; Ying K; Morris P; Tao J; Dias KR; Zhu Y; Dinger ME; Cowley MJ; Kirk EP; Roscioli T; Sachdev R; Duffey ME; Bye A; Bhattacharjee A; Palmer E, 2017, 'A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy', Cell Reports, 21, pp. 926 - 933, http://dx.doi.org/10.1016/j.celrep.2017.09.088
Von Spiczak S; Helbig KL; Shinde DN; Huether R; Pendziwiat M; Lourenço C; Nunes ME; Sarco DP; Kaplan RA; Dlugos DJ; Kirsch H; Slavotinek A; Cilio MR; Cervenka MC; Cohen JS; McClellan R; Fatemi A; Yuen A; Sagawa Y; Littlejohn R; McLean SD; Hernandez-Hernandez L; Maher B; Møller RS; Palmer E; Lawson JA; Campbell CA; Joshi CN; Kolbe DL; Hollingsworth G; Neubauer BA; Muhle H; Stephani U; Scheffer IE; Pena SDJ; Sisodiya SM; Helbig I; Palmer E, 2017, 'DNM1 encephalopathy', Neurology, 89, pp. 385 - 394, http://dx.doi.org/10.1212/WNL.0000000000004152
McKay V; Efron D; Palmer EE; White SM; Pearson C; Danchin M, 2017, 'Current use of chromosomal microarray by Australian paediatricians and implications for the implementation of next generation sequencing', Journal of Paediatrics and Child Health, 53, pp. 650 - 656, http://dx.doi.org/10.1111/jpc.13523
Zambonin JL; Bellomo A; Ben-Pazi H; Everman DB; Frazer LM; Geraghty MT; Harper AD; Jones JR; Kamien B; Kernohan K; Koenig MK; Lines M; Palmer EE; Richardson R; Segel R; Tarnopolsky M; Vanstone JR; Gibbons M; Collins A; Fogel BL; Dudding-Byth T; Boycott KM; Palmer E, 2017, 'Spinocerebellar ataxia type 29 due to mutations in ITPR1: A case series and review of this emerging congenital ataxia', Orphanet Journal of Rare Diseases, 12, pp. 121, http://dx.doi.org/10.1186/s13023-017-0672-7
Palmer EE; Sachdev R; Kandula T; Macintosh R; Kirk E; Bye A; Palmer E, 2017, 'Genetics of Epileptic Encephalopathies', eLS, pp. 1 - 11, http://dx.doi.org/10.1002/9780470015902.a0026922
Smogavec M; Cleall A; Hoyer J; Lederer D; Nassogne MC; Palmer EE; Deprez M; Benoit V; Maystadt I; Noakes C; Leal A; Shaw M; Gecz J; Raymond L; Reis A; Shears D; Brockmann K; Zweier C, 2016, 'Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum', Journal of Medical Genetics, 53, pp. 820 - 827, http://dx.doi.org/10.1136/jmedgenet-2016-103880
Zerem A; Haginoya K; Lev D; Blumkin L; Kivity S; Linder I; Shoubridge C; Palmer EE; Field M; Boyle J; Chitayat D; Gaillard WD; Kossoff EH; Willems M; Geneviève D; Tran-Mau-Them F; Epstein O; Heyman E; Dugan S; Masurel-Paulet A; Piton A; Kleefstra T; Pfundt R; Sato R; Tzschach A; Matsumoto N; Saitsu H; Leshinsky-Silver E; Lerman-Sagie T, 2016, 'The molecular and phenotypic spectrum of IQSEC2-related epilepsy', Epilepsia, 57, pp. 1858 - 1869, http://dx.doi.org/10.1111/epi.13560
Palmer EE, 2016, 'Dissecting the clinical outcome and cause of abnormalities of the corpus callosum', Developmental Medicine and Child Neurology, 58, pp. 430 - 431, http://dx.doi.org/10.1111/dmcn.13079
Palmer EE; Jarrett KE; Sachdev RK; Zahrani FA; Hashem MO; Ibrahim N; Sampaio H; Kandula T; Macintosh R; Gupta R; Conlon DM; Billheimer JT; Rader DJ; Funato K; Walkey CJ; Lee CS; Loo C; Brammah S; Elakis G; Zhu Y; Buckley M; Kirk EP; Bye A; Alkuraya FS; Roscioli T; Lagor WR; Palmer E, 2016, 'Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy', Human Molecular Genetics, 25, pp. 3042 - 3054, http://dx.doi.org/10.1093/hmg/ddw157
Palmer EE; Leffler M; Rogers C; Shaw M; Carroll R; Earl J; Cheung NW; Champion B; Hu H; Haas SA; Kalscheuer VM; Gecz J; Field M, 2016, 'New insights into Brunner syndrome and potential for targeted therapy', Clinical Genetics, 89, pp. 120 - 127, http://dx.doi.org/10.1111/cge.12589
Palmer EE; Hayner J; Sachdev R; Cardamone M; Kandula T; Morris P; Dias KR; Tao J; Miller D; Zhu Y; Macintosh R; Dinger ME; Cowley MJ; Buckley MF; Roscioli T; Bye A; Kilberg MS; Kirk EP; Palmer E, 2015, 'Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine', Molecular Genetics and Metabolism, 116, pp. 178 - 186, http://dx.doi.org/10.1016/j.ymgme.2015.08.007
Kumar R; Corbett MA; Van Bon BWM; Woenig JA; Weir L; Douglas E; Friend KL; Gardner A; Shaw M; Jolly LA; Tan C; Hunter MF; Hackett A; Field M; Palmer EE; Leffler M; Rogers C; Boyle J; Bienek M; Jensen C; Van Buggenhout G; Van Esch H; Hoffmann K; Raynaud M; Zhao H; Reed R; Hu H; Haas SA; Haan E; Kalscheuer VM; Gecz J, 2015, 'THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability', American Journal of Human Genetics, 97, pp. 302 - 310, http://dx.doi.org/10.1016/j.ajhg.2015.05.021
Palmer E; Speirs H; Taylor PJ; Mullan G; Turner G; Einfeld S; Tonge B; Mowat D, 2014, 'Changing interpretation of chromosomal microarray over time in a community cohort with intellectual disability', American Journal of Medical Genetics Part A, 164, pp. 377 - 385, http://dx.doi.org/10.1002/ajmg.a.36279
Palmer EE; Mowat D, 2014, 'Agenesis of the corpus callosum: A clinical approach to diagnosis', American Journal of Medical Genetics Part C Seminars in Medical Genetics, 166, pp. 184 - 197, http://dx.doi.org/10.1002/ajmg.c.31405
Palmer E; Peters G; Mowat DR, 2012, 'Chromosome microarray in Australia: A guide for paediatricians', Journal of Paediatrics and Child Health, 48, pp. E59 - E67, http://dx.doi.org/10.1111/j.1440-1754.2011.02081.x
Conference Papers
Palmer EE; Caroll R; Shaw M; Kumar R; Nawaz U; Minoche A; Leffler M; Murray L; Macintosh R; Wright D; Troedson C; McKenzie F; Townshend S; Ward M; Ravine A; Runke CK; Thorland EC; Hummel M; Foulds N; Pichon O; Isidor B; Le Caignec C; 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 recognizable facial features.', in EUROPEAN JOURNAL OF HUMAN GENETICS, SPRINGERNATURE, pp. 995 - 996, http://dx.doi.org/10.26190/unsworks/28005
Zerem A; Haginoya K; Lev D; Blumkin L; Kivity S; Linder I; Shoubridge C; Palmer EE; Field M; Boyle J; Chitayat D; Gaillard WD; Kossoff EH; Willems M; Genevieve D; Tran-Mau-Them F; Epstein O; Heyman E; Dugan S; Masurel-Paulet A; Piton A; Kleefstra T; Pfundt R; Sato R; Tzschach A; Matsumoto N; Saitsu H; Leshinsky-Silver E; Lerman-Sagie T, 2016, 'THE MOLECULAR AND PHENOTYPIC SPECTRUM OF IQSEC2 RELATED EPILEPSY', in EPILEPSIA, WILEY, pp. 21 - 22
Conference Abstracts
Tremblay-Laganiere C; Maroofian R; Nguyen TTM; Karimiani EG; Kirmani S; Akbar F; Ibrahim S; Afroze B; Doosti M; Ashrafzadeh F; Babaei M; Efthymiou S; 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; Rusch 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, 2022, 'PIGG variant pathogenicity assessment reveals novel features within nineteen families', in EUROPEAN JOURNAL OF HUMAN GENETICS, SPRINGERNATURE, Vol. 30, pp. 274 - 274, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000779367701182&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
Palmer EE; Sachdev R; Macintosh R; Kandula T; Minoche A; Puttick C; Gayevskiy V; Roscioli T; Dinger M; Hesson L; Shoubridge C; Drew A; Davis R; Kummerfeld S; Cowley M; Bye A; Kirk E, 2019, 'How far can we go? Whole genome sequencing, periodic reanalysis and international collaborations expands our understanding of the causes of developmental and epileptic encephalopathy', in EUROPEAN JOURNAL OF HUMAN GENETICS, NATURE PUBLISHING GROUP, SWEDEN, Gothenburg, Vol. 27, pp. 1431 - 1432, presented at 52nd Conference of the European-Society-of-Human-Genetics (ESHG), SWEDEN, Gothenburg, 15 June 2019 - 18 June 2019, http://dx.doi.org/10.26190/unsworks/27545
Luermans J; Fleming J; O'Shea R; Field M; Palmer E; Leffler M, 2019, 'Exploring the experiences and support needs of non-carrier fathers of children with fragile X syndrome', in European Journal of Human Genetics, Springer Nature [academic journals on nature.com], SWEDEN, Gothenburg, Vol. 277, pp. 1781 - 1782, presented at European Society of Human Genetics, SWEDEN, Gothenburg, 15 June 2019 - 18 June 2019, http://dx.doi.org/10.26190/unsworks/27453
Palmer EE; Hong S; Al Zahrani F; Hashem MO; Aleisa FA; Ahmed HMJ; Kandula T; Macintosh R; Minoche A; Puttick C; Gayevskiy V; Drew AP; Cowley MJ; Dinger ME; Rosenfeld JA; Xiao R; Cho MT; Henderson LB; Sacoto MJG; Begtrup A; Hamad M; Shinawi M; Andrews M; Jones MC; Lindstrom K; Kayani S; Snyder M; Villanueva M; Schteinschnaider A; Roscioli T; Kirk EP; Bye A; Merzaban J; Jaremko L; Jaremko M; Sachdev RK; Alkuraya FS; Arold ST, 2018, 'De novo variants disruting the HX repeat motif of ATN1 cause a non-progressive neurocognitive disorder with recognisable facial features and congenital malformations', in EUROPEAN JOURNAL OF HUMAN GENETICS, NATURE PUBLISHING GROUP, ITALY, Milan, Vol. 27, pp. 213 - 214, presented at 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), ITALY, Milan, 16 June 2018 - 19 June 2018
Sa MJN; Jensik PJ; Parker MJ; Lahiri N; McNeil EP; Hibbs K; Kroes HY; Stumpel CTRM; Stegmann APA; Hagerman RJ; Harrison RE; Splitt M; Montgomery T; Palmer EE; Sachdev RK; Mefford HC; Scott AA; Martinez-Agosto JA; Lorenz R; Orenstein N; Berg JN; Cobben J; Marco EJ; de Vries BBA; Vulto-vanSilfhout AT; Palmer E, 2018, 'Different mutations in DEAF1 lead to clinically distinct dominant and recessive forms of intellectual disability', in EUROPEAN JOURNAL OF HUMAN GENETICS, NATURE PUBLISHING GROUP, ITALY, Milan, Vol. 27, pp. 218 - 219, presented at 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), ITALY, Milan, 16 June 2018 - 19 June 2018, http://dx.doi.org/10.26190/unsworks/27465
Azzarello-Burri S; Joset P; andrieux J; Lopes F; Palmer E; Czeschik J; Demeer B; Duque F; Kuechler A; Maciel P, 2018, 'Further delineation of a novel 2q11. 1q11. 2 micro-duplication syndrome', in European Journal of Human Genetics, Springer Nature [academic journals on nature.com], Vol. 26, pp. 326 - 326, presented at European society of human genetics
Preprints
Strnadová I; Hansen J; Danker J; Jackaman K-M; Loblinzk J; Sarfaraz S; Scully JL; Boyle J; Terrill B; Palmer E, 2025, “It was up to me to be curious”: Perceptions and Experiences of Students with Intellectual Disability on Genetics and Health Education, http://dx.doi.org/10.21203/rs.3.rs-5635751/v1
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., http://dx.doi.org/10.1101/2024.04.07.24305438
Dunn M; Strnadová I; Scully JL; Hansen J; Palmer EE, 2023, Exploring the Barriers and Enablers for the Equitable and Accessible Informed Healthcare Consent Process for People with Intellectual Disability: A Systematic Literature Review, http://dx.doi.org/10.1101/2023.03.06.23286791
Brett G; Ward A; Bouffler S; Palmer E; Boggs K; Lynch F; Springer A; Nisselle A; Stark Z, 2022, Co-design, implementation, and evaluation of plain language genomic test reports, http://dx.doi.org/10.21203/rs.3.rs-1721168/v1
Palmer E; Danker J; Strnadová I; Loblinzk J; Jackaman K-M; Scully JL; Sierra Classen Sierra Classen1 ; Dunn M; Sarfaraz S; Tso M; Boyle J; Fitzgerald V, 2022, “I am not a number!” Opinions and preferences of people with intellectual disability about genomic healthcare., http://dx.doi.org/10.21203/rs.3.rs-2150970/v1
McKnight L; Schultz A; Vidic N; Palmer E; Jaffe A, 2022, Learning to make a difference for chILD: Value creation through network collaboration and team science, http://dx.doi.org/10.22541/au.166740302.29601419/v1
Shi Y; van Rhijn J-R; Bormann M; Mossink B; Frega M; Recaioglu H; Hakobjan M; Gunnewiek TK; Schoenmaker C; Palmer E; Faivre L; Kittel-Schneider S; Schubert D; Brunner H; Franke B; Kasri NN, 2020, Brunner syndrome associated MAOA dysfunction in human dopaminergic neurons results in NMDAR hyperfunction and increased network activity, http://dx.doi.org/10.1101/2020.10.28.359224
Other
Palmer EE; Hong S; Al Zahrani F; Hashem MO; Aleisa FA; Jalal Ahmed HM; 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, Erratum: De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive Syndrome (The American Journal of Human Genetics (2019) 104(3) (542–552), (S0002929719300138), (10.1016/j.ajhg.2019.01.013)), Elsevier, http://dx.doi.org/10.1016/j.ajhg.2019.03.016
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