Conjoint Lecturer

Dr Rani Rupinder Kaur Sachdev

medicine-health
Sch Women's&Children's Health

Publications

  • Journal articles | 2021
    Dr Rani Rupinder Kaur Sachdev
    Nevin SM; Wakefield CE; Barlow-Stewart K; Mcgill BC; Bye A; Palmer EE, 2021, 'Psychosocial impact of genetic testing on parents of children with developmental and epileptic encephalopathy', DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, http://dx.doi.org/10.1111/dmcn.14971
    Journal articles | 2021
    Dr Rani Rupinder Kaur Sachdev
    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, vol. 23, pp. 894 - 905, http://dx.doi.org/10.1016/j.jmoldx.2021.04.007
    Journal articles | 2021
    Dr Rani Rupinder Kaur Sachdev
    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, vol. 57, pp. 477 - 483, http://dx.doi.org/10.1111/jpc.15382
    Journal articles | 2021
    Dr Rani Rupinder Kaur Sachdev
    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, vol. 96, pp. e1770 - e1782, http://dx.doi.org/10.1212/WNL.0000000000011655
    Journal articles | 2020
    Dr Rani Rupinder Kaur Sachdev
    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, vol. 75, pp. 662 - 664, http://dx.doi.org/10.1097/01.ogx.0000722040.32795.04
    Journal articles | 2020
    Dr Rani Rupinder Kaur Sachdev
    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, vol. 323, pp. 2503 - 2511, http://dx.doi.org/10.1001/jama.2020.7671
    Journal articles | 2020
    Dr Rani Rupinder Kaur Sachdev
    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, vol. 107, pp. 1157 - 1169, http://dx.doi.org/10.1016/j.ajhg.2020.10.005
    Journal articles | 2020
    Dr Rani Rupinder Kaur Sachdev
    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.', Hum Mutat, vol. 41, pp. 1645 - 1661, http://dx.doi.org/10.1002/humu.24071
    Journal articles | 2020
    Dr Rani Rupinder Kaur Sachdev
    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 Rep, vol. 56, pp. 3 - 8, http://dx.doi.org/10.1002/jmd2.12155
    Journal articles | 2019
    Dr Rani Rupinder Kaur Sachdev
    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, 2019, 'De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome', American Journal of Human Genetics, vol. 104, pp. 542 - 552, http://dx.doi.org/10.1016/j.ajhg.2019.01.013
    Journal articles | 2019
    Dr Rani Rupinder Kaur Sachdev
    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, vol. 64, pp. 1173 - 1186, http://dx.doi.org/10.1038/s10038-019-0667-4
    Journal articles | 2019
    Dr Rani Rupinder Kaur Sachdev
    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, 2019, 'De novo and biallelic DEAF1 variants cause a phenotypic spectrum', Genetics in Medicine, vol. 21, pp. 2059 - 2069, http://dx.doi.org/10.1038/s41436-019-0473-6
    Journal articles | 2018
    Dr Rani Rupinder Kaur Sachdev
    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, vol. 30, http://dx.doi.org/10.1111/nmo.13371
    Journal articles | 2018
    Dr Rani Rupinder Kaur Sachdev
    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, vol. 10, http://dx.doi.org/10.1186/s13148-018-0546-4
    Journal articles | 2018
    Dr Rani Rupinder Kaur Sachdev
    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, vol. 20, pp. 1564 - 1574, http://dx.doi.org/10.1038/gim.2018.39
    Journal articles | 2018
    Dr Rani Rupinder Kaur Sachdev
    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, 2018, 'A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures', Cell, vol. 172, pp. 924 - 936.e11, http://dx.doi.org/10.1016/j.cell.2018.02.006
    Journal articles | 2018
    Dr Rani Rupinder Kaur Sachdev
    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, 2018, 'Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness', Molecular Genetics and Genomic Medicine, vol. 6, pp. 186 - 199, http://dx.doi.org/10.1002/mgg3.355
    Journal articles | 2018
    Dr Rani Rupinder Kaur Sachdev
    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, vol. 20, pp. 1061 - 1068, http://dx.doi.org/10.1038/gim.2017.214
    Journal articles | 2017
    Dr Rani Rupinder Kaur Sachdev
    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, 2017, 'A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy', Cell Reports, vol. 21, pp. 926 - 933, http://dx.doi.org/10.1016/j.celrep.2017.09.088
    Journal articles | 2017
    Dr Rani Rupinder Kaur Sachdev
    Palmer EE; Sachdev R; Kandula T; Macintosh R; Kirk E; Bye A, 2017, 'Genetics of Epileptic Encephalopathies', eLS, pp. 1 - 11, http://dx.doi.org/10.1002/9780470015902.a0026922
    Journal articles | 2016
    Dr Rani Rupinder Kaur Sachdev
    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, vol. 31, pp. 1033 - 1040, http://dx.doi.org/10.1002/mds.26598
    Journal articles | 2016
    Dr Rani Rupinder Kaur Sachdev
    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, 2016, 'Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy', Human Molecular Genetics, vol. 25, pp. 3042 - 3054, http://dx.doi.org/10.1093/hmg/ddw157
    Journal articles | 2015
    Dr Rani Rupinder Kaur Sachdev
    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, vol. 3, pp. 203 - 214, http://dx.doi.org/10.1002/mgg3.133
    Journal articles | 2015
    Dr Rani Rupinder Kaur Sachdev
    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, 2015, 'Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine', Molecular Genetics and Metabolism, vol. 116, pp. 178 - 186, http://dx.doi.org/10.1016/j.ymgme.2015.08.007
    Journal articles | 2014
    Dr Rani Rupinder Kaur Sachdev
    Hosking KA; Leung H; Andrews I; Sachdev R, 2014, 'Ataxia telangiectasia in a three-year-old-girl', Pediatric Neurology, vol. 50, pp. 279 - 280, http://dx.doi.org/10.1016/j.pediatrneurol.2013.11.011
    Journal articles | 2013
    Dr Rani Rupinder Kaur Sachdev
    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, vol. 163, pp. 259 - 270, http://dx.doi.org/10.1002/ajmg.c.31378
    Journal articles | 2012
    Dr Rani Rupinder Kaur Sachdev
    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, vol. 48, pp. 356 - 360, http://dx.doi.org/10.1111/j.1440-1754.2011.02236.x
    Journal articles | 2012
    Dr Rani Rupinder Kaur Sachdev
    Kamien BA; Cardamone DM; Lawson JA; Sachdev RR, 2012, 'A genetic diagnostic approach to infantile epileptic encephalopathies', Journal of Clinical Neuroscience, vol. 19, pp. 934 - 941, http://dx.doi.org/10.1016/j.jocn.2012.01.017
    Journal articles | 2008
    Dr Rani Rupinder Kaur Sachdev
    Gabbett MT; Robertson SP; Broadbent R; Aftimos S; Sachdev R; Nezarati MM, 2008, 'Characterizing the oculoauriculofrontonasal syndrome', Clinical Dysmorphology, vol. 17, pp. 79 - 85, http://dx.doi.org/10.1097/MCD.0b013e3282f449c8
    Journal articles | 1999
    Dr Rani Rupinder Kaur Sachdev
    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, vol. 86, pp. 27 - 33, http://dx.doi.org/10.1002/(SICI)1096-8628(19990903)86:1<27::AID-AJMG6>3.0.CO;2-7
  • Other | 2019
    Dr Rani Rupinder Kaur Sachdev
    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, 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)), http://dx.doi.org/10.1016/j.ajhg.2019.03.016

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