By Dr Rani Rupinder Kaur Sachdev

Journal articles

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

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

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

Chang FCF; Westenberger A; Dale RC; Smith M; Pall HS; Perez-Dueñas B; Grattan-Smith P; Ouvrier RA; Mahant N; Hanna BC; Hunter M; Lawson JA; Max C; Sachdev R; Meyer E; Crimmins D; Pryor D; Morris JGL; Münchau A; Grozeva D; Carss KJ; Raymond L; Kurian MA; Klein C; Fung VSC, 2016, 'Phenotypic insights into ADCY5-associated disease', Movement Disorders, 31, pp. 1033 - 1040, http://dx.doi.org/10.1002/mds.26598

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; 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

Marques I; Sa MJ; Soares G; Mota MDC; Pinheiro C; Aguiar L; Amado M; Soares C; Calado A; Dias P; Sousa AB; Fortuna AM; Santos R; Howell KB; Ryan MM; Leventer RJ; Sachdev R; Catford R; Friend K; Mattiske TR; Shoubridge C; Jorge P, 2015, 'Unraveling the pathogenesis of arx polyalanine tract variants using a clinical and molecular interfacing approach', Molecular Genetics and Genomic Medicine, 3, pp. 203 - 214, http://dx.doi.org/10.1002/mgg3.133

Hosking KA; Leung H; Andrews I; Sachdev R, 2014, 'Ataxia telangiectasia in a three-year-old-girl', Pediatric Neurology, 50, pp. 279 - 280, http://dx.doi.org/10.1016/j.pediatrneurol.2013.11.011

Roscioli T; Elakis G; Cox TC; Moon DJ; Venselaar H; Turner AM; Le T; Hackett E; Haan E; Colley A; Mowat D; Worgan L; Kirk EP; Sachdev R; Thompson E; Gabbett M; Mcgaughran J; Gibson K; Gattas M; Freckmann ML; Dixon J; Hoefsloot L; Field M; Hackett A; Kamien B; Edwards M; Adès LC; Collins FA; Wilson MJ; Savarirayan R; Tan TY; Amor DJ; Mcgillivray G; White SM; Glass IA; David DJ; Anderson PJ; Gianoutsos M; Buckley MF, 2013, 'Genotype and clinical care correlations in craniosynostosis: Findings from a cohort of 630 australian and new zealand patients', American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 163, pp. 259 - 270, http://dx.doi.org/10.1002/ajmg.c.31378

Kamien BA; Cardamone DM; Lawson JA; Sachdev RR, 2012, 'A genetic diagnostic approach to infantile epileptic encephalopathies', Journal of Clinical Neuroscience, 19, pp. 934 - 941, http://dx.doi.org/10.1016/j.jocn.2012.01.017

Argent E; Emder PJ; Monagle P; Mowat DR; Petterson T; Russell SJ; Sachdev RR; Stone C; Ziegler DS, 2012, 'Australian paediatric surveillance unit study of haemoglobinopathies in australian children', Journal of Paediatrics and Child Health, 48, pp. 356 - 360, http://dx.doi.org/10.1111/j.1440-1754.2011.02236.x

Gabbett MT; Robertson SP; Broadbent R; Aftimos S; Sachdev R; Nezarati MM, 2008, 'Characterizing the oculoauriculofrontonasal syndrome', Clinical Dysmorphology, 17, pp. 79 - 85, http://dx.doi.org/10.1097/MCD.0b013e3282f449c8

McQuade L; Christodoulou J; Budarf M; Sachdev R; Wilson M; Emanuel B; Colley A, 1999, 'Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR)', American Journal of Medical Genetics, 86, pp. 27 - 33, http://dx.doi.org/10.1002/(SICI)1096-8628(19990903)86:1<27::AID-AJMG6>3.0.CO;2-7

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