By Dr Elizabeth Emma Palmer

Journal articles

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

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

Kaplan E; Altunisik E; Ekmekyapar Firat Y; Datta Barua P; Dogan S; Baygin M; Burak Demir F; Tuncer T; Palmer E; Tan RS; Yu P; Soar J; Fujita H; Rajendra Acharya U, 2022, 'Novel nested patch-based feature extraction model for automated Parkinson's Disease symptom classification using MRI images', Computer Methods and Programs in Biomedicine, 224, http://dx.doi.org/10.1016/j.cmpb.2022.107030

Stamberger H; Crosiers D; Balagura G; Bonardi CM; Basu A; Cantalupo G; Chiesa V; Christensen J; Dalla Bernardina B; Ellis CA; Furia F; Gardiner F; Giron C; Guerrini R; Klein KM; Korff C; Krijtova H; Leffner M; Lerche H; Lesca G; Lewis-Smith D; Marini C; Marjanovic D; Mazzola L; McKeown Ruggiero S; Mochel F; Ramond F; Reif PS; Richard-Mornas A; Rosenow F; Schropp C; Thomas RH; Vignoli A; Weber Y; Palmer E; Helbig I; Scheffer IE; Striano P; Møller RS; Gardella E; Weckhuysen S, 2022, 'Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy into Adulthood', Neurology, 99, pp. E221 - E233, http://dx.doi.org/10.1212/WNL.0000000000200715

Loh HW; Ooi CP; Barua PD; Palmer EE; Molinari F; Acharya UR, 2022, 'Automated detection of ADHD: Current trends and future perspective', Computers in Biology and Medicine, 146, http://dx.doi.org/10.1016/j.compbiomed.2022.105525

Tanko D; Barua PD; Dogan S; Tuncer T; Palmer E; Ciaccio EJ; Acharya UR, 2022, 'EPSPatNet86: Eight-pointed star pattern learning network for detection ADHD disorder using EEG signals', Physiological Measurement, 43, http://dx.doi.org/10.1088/1361-6579/ac59dc

Palmer EE, 2022, 'Commentary on: Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON', European Journal of Human Genetics, 30, pp. 258 - 259, http://dx.doi.org/10.1038/s41431-021-01007-4

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

Strnadová I; Nevin SM; Scully JL; Palmer EE, 2022, 'The opinions and experiences of people with intellectual disability regarding genetic testing and genetic medicine: A systematic review', Genetics in Medicine, 24, pp. 535 - 548, http://dx.doi.org/10.1016/j.gim.2021.11.013

Barua PD; Vicnesh J; Gururajan R; Oh SL; Palmer E; Azizan MM; Kadri NA; Acharya UR, 2022, 'Artificial Intelligence Enabled Personalised Assistive Tools to Enhance Education of Children with Neurodevelopmental Disorders—A Review', International Journal of Environmental Research and Public Health, 19, http://dx.doi.org/10.3390/ijerph19031192

van Rhijn JR; Shi Y; Bormann M; Mossink B; Frega M; Recaioglu H; Hakobjan M; Klein Gunnewiek T; Schoenmaker C; Palmer E; Faivre L; Kittel-Schneider S; Schubert D; Brunner H; Franke B; Nadif Kasri N, 2022, 'Brunner syndrome associated MAOA mutations result in NMDAR hyperfunction and increased network activity in human dopaminergic neurons', Neurobiology of Disease, 163, http://dx.doi.org/10.1016/j.nbd.2021.105587

Palmer EE, 2022, 'Genetic testing for epilepsy: Why and when to think about it', Medicine Today, 23, pp. 59 - 67

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

Inamdar MA; Raghavendra U; Gudigar A; Chakole Y; Hegde A; Menon GR; Barua P; Palmer EE; Cheong KH; Chan WY; Ciaccio EJ; Acharya UR, 2021, 'A review on computer aided diagnosis of acute brain stroke', Sensors, 21, http://dx.doi.org/10.3390/s21248507

Loh HW; Hong W; Ooi CP; Chakraborty S; Barua PD; Deo RC; Soar J; Palmer EE; Acharya UR, 2021, 'Application of deep learning models for automated identification of parkinson’s disease: A review (2011–2021)', Sensors, 21, http://dx.doi.org/10.3390/s21217034

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

Palmer EE; Whitton C; Hashem MO; Clark RD; Ramanathan S; Starr LJ; Velasco D; De Dios JK; Singh E; Cormier-Daire V; Chopra M; Rodan LH; Nellaker C; Lakhani S; Mallack EJ; Panzer K; Sidhu A; Wentzensen IM; Lacombe D; Michaud V; Alkuraya FS, 2021, 'CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum', Clinical Genetics, 100, pp. 468 - 477, http://dx.doi.org/10.1111/cge.14022

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

McKeon G; Palmer EE; Macintosh R; Nevin SM; Wheatley L; Rosenbaum S, 2021, 'Feasibility of a mental health informed physical activity intervention for the carers of children with developmental and epileptic encephalopathy', Epilepsy and Behavior, 121, http://dx.doi.org/10.1016/j.yebeh.2021.108022

Afrasiabi A; Keane JT; Ik-Tsen Heng J; Palmer EE; Lovell NH; Alinejad-Rokny H, 2021, 'Quantitative neurogenetics: Applications in understanding disease', Biochemical Society Transactions, 49, pp. 1621 - 1631, http://dx.doi.org/10.1042/BST20200732

Loh HW; Ooi CP; Palmer E; Barua PD; Dogan S; Tuncer T; Baygin M; Rajendra Acharya U, 2021, 'Gaborpdnet: Gabor transformation and deep neural network for parkinson’s disease detection using eeg signals', Electronics (Switzerland), 10, http://dx.doi.org/10.3390/electronics10141740

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

Palmer EE; Howell K; Scheffer IE, 2021, 'Natural History Studies and Clinical Trial Readiness for Genetic Developmental and Epileptic Encephalopathies', Neurotherapeutics, 18, pp. 1432 - 1444, http://dx.doi.org/10.1007/s13311-021-01133-3

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

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

Baygin M; Dogan S; Tuncer T; Datta Barua P; Faust O; Arunkumar N; Abdulhay EW; Emma Palmer E; Rajendra Acharya U, 2021, 'Automated ASD detection using hybrid deep lightweight features extracted from EEG signals.', Comput Biol Med, 134, pp. 104548, http://dx.doi.org/10.1016/j.compbiomed.2021.104548

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

Wang T; Hoekzema K; Vecchio D; Wu H; Sulovari A; Coe BP; Gillentine MA; Wilfert AB; Perez-Jurado LA; Kvarnung M; Sleyp Y; Earl RK; Rosenfeld JA; Geisheker MR; Han L; Du B; Barnett C; Thompson E; Shaw M; Carroll R; Friend K; Catford R; Palmer EE; Zou X; Ou J; Li H; Guo H; Gerdts J; Avola E; Calabrese G; Elia M; Greco D; Lindstrand A; Nordgren A; Anderlid BM; Vandeweyer G; Van Dijck A; Van der Aa N; McKenna B; Hancarova M; Bendova S; Havlovicova M; Malerba G; Bernardina BD; Muglia P; van Haeringen A; Hoffer MJV; Franke B; Cappuccio G; Delatycki M; Lockhart PJ; Manning MA; Liu P; Scheffer IE; Brunetti-Pierri N; Rommelse N; Amaral DG; Santen GWE; Trabetti E; Sedláček Z; Michaelson JJ; Pierce K; Courchesne E; Kooy RF; Acampado J; Ace AJ; Amatya A; Astrovskaya I; Bashar A; Brooks E; Butler ME; Cartner LA; Chin W; Chung WK; Daniels AM; Feliciano P; Fleisch C; Ganesan S; Jensen W; Lash AE; Marini R; Myers VJ; O’Connor E; Rigby C; Robertson BE; Shah N; Shah S; Singer E; Snyder LAG; Stephens AN; Tjernagel J; Vernoia BM; Volfovsky N; White LC; Hsieh A; Shen Y; Zhou X; Turner TN; Bahl E; Thomas TR, 2020, 'Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders (Nature Communications, (2020), 11, 1, (4932), 10.1038/s41467-020-18723-y)', Nature Communications, 11, pp. 5398, http://dx.doi.org/10.1038/s41467-020-19289-5

Wang T; Hoekzema K; Vecchio D; Wu H; Sulovari A; Coe BP; Gillentine MA; Wilfert AB; Perez-Jurado LA; Kvarnung M; Sleyp Y; Earl RK; Rosenfeld JA; Geisheker MR; Han L; Du B; Barnett C; Thompson E; Shaw M; Carroll R; Friend K; Catford R; Palmer EE; Zou X; Ou J; Li H; Guo H; Gerdts J; Avola E; Calabrese G; Elia M; Greco D; Lindstrand A; Nordgren A; Anderlid BM; Vandeweyer G; Van Dijck A; Van der Aa N; McKenna B; Hancarova M; Bendova S; Havlovicova M; Malerba G; Bernardina BD; Muglia P; van Haeringen A; Hoffer MJV; Franke B; Cappuccio G; Delatycki M; Lockhart PJ; Manning MA; Liu P; Scheffer IE; Brunetti-Pierri N; Rommelse N; Amaral DG; Santen GWE; Trabetti E; Sedláček Z; Michaelson JJ; Pierce K; Courchesne E; Kooy RF; Acampado J; Ace AJ; Amatya A; Astrovskaya I; Bashar A; Brooks E; Butler ME; Cartner LA; Chin W; Chung WK; Daniels AM; Feliciano P; Fleisch C; Ganesan S; Jensen W; Lash AE; Marini R; Myers VJ; O’Connor E; Rigby C; Robertson BE; Shah N; Shah S; Singer E; Snyder LAG; Stephens AN; Tjernagel J; Vernoia BM; Volfovsky N; White LC; Hsieh A; Shen Y; Zhou X; Turner TN; Bahl E; Thomas TR, 2020, 'Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders', Nature Communications, 11, pp. 4932, http://dx.doi.org/10.1038/s41467-020-18723-y

Nevin SM; Wakefield CE; Schilstra CE; McGill BC; Bye A; Palmer EE; Gok C, 2020, 'The information needs of parents of children with early-onset epilepsy: A systematic review', Epilepsy and Behavior, 112, pp. 107382, http://dx.doi.org/10.1016/j.yebeh.2020.107382

Kotwal H; Fleming J; Barlow-Stewart K; Boyle J; Silberbauer L; Leffler M; Murray L; Palmer EE, 2020, 'Pre-genetics clinic resource evaluation for adults with intellectual disability: The pre-genetics clinic aid', Journal of Genetic Counseling, 29, pp. 668 - 677, http://dx.doi.org/10.1002/jgc4.1259

Cheng H; Capponi S; Wakeling E; Marchi E; Li Q; Zhao M; Weng C; Stefan PG; Ahlfors H; Kleyner R; Rope A; Lumaka A; Lukusa P; Devriendt K; Vermeesch J; Posey JE; Palmer EE; Murray L; Leon E; Diaz J; Worgan L; Mallawaarachchi A; Vogt J; de Munnik SA; Dreyer L; Baynam G; Ewans L; Stark Z; Lunke S; Goncalves AR; Soares G; Oliveira J; Fassi E; Willing M; Waugh JL; Faivre L; Riviere J-B; Moutton S; Mohammed S; Payne K; Walsh L; Begtrup A; Sacoto MJ; Douglas G; Alexander N; Buckley MF; Mark PR; Ades LC; Sandaradura SA; Lupski JR; Roscioli T; Agrawal PB; Kline AD; Wang K; Timmers HTM; Lyon GJ, 2020, 'Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity (vol 41, pg 449, 2020)', HUMAN MUTATION, 41, pp. 1075 - 1075, http://dx.doi.org/10.1002/humu.24003

Kumar R; Palmer E; Gardner AE; Carroll R; Banka S; Abdelhadi O; Donnai D; Elgersma Y; Curry CJ; Gardham A; Suri M; Malla R; Brady LI; Tarnopolsky M; Azmanov DN; Atkinson V; Black M; Baynam G; Dreyer L; Hayeems RZ; Marshall CR; Costain G; Wessels MW; Baptista J; Drummond J; Leffler M; Field M; Gecz J, 2020, 'Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor', Frontiers in Molecular Neuroscience, 13, pp. 12, http://dx.doi.org/10.3389/fnmol.2020.00012

Pusch M; Picollo A; Bertelli S; Zifarelli G; Palmer EE; Kalscheuer V, 2020, 'Intracellular CLC Transporters - From Kidney Stones to Intellectual Disability', BIOPHYSICAL JOURNAL, 118, pp. 24A - 24A, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000513023200117&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Cheng H; Capponi S; Wakeling E; Marchi E; Li Q; Zhao M; Weng C; Stefan PG; Ahlfors H; Kleyner R; Rope A; Lumaka A; Lukusa P; Devriendt K; Vermeesch J; Posey JE; Palmer EE; Murray L; Leon E; Diaz J; Worgan L; Mallawaarachchi A; Vogt J; de Munnik SA; Dreyer L; Baynam G; Ewans L; Stark Z; Lunke S; Gonçalves AR; Soares G; Oliveira J; Fassi E; Willing M; Waugh JL; Faivre L; Riviere JB; Moutton S; Mohammed S; Payne K; Walsh L; Begtrup A; Guillen Sacoto MJ; Douglas G; Alexander N; Buckley MF; Mark PR; Adès LC; Sandaradura SA; Lupski JR; Roscioli T; Agrawal PB; Kline AD; Wang K; Timmers HTM; Lyon GJ, 2020, 'Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity', Human Mutation, 41, pp. 449 - 464, http://dx.doi.org/10.1002/humu.23936

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

Torti E; Keren B; Palmer EE; Zhu Z; Afenjar A; Anderson IJ; Andrews MV; Atkinson C; Au M; Berry SA; Bowling KM; Boyle J; Buratti J; Cathey SS; Charles P; Cogne B; Courtin T; Escobar LF; Finley SL; Graham JM; Grange DK; Heron D; Hewson S; Hiatt SM; Hibbs KA; Jayakar P; Kalsner L; Larcher L; Lesca G; Mark PR; Miller K; Nava C; Nizon M; Pai GS; Pappas J; Parsons G; Payne K; Putoux A; Rabin R; Sabatier I; Shinawi M; Shur N; Skinner SA; Valence S; Warren H; Whalen S; Crunk A; Douglas G; Monaghan KG; Person RE; Willaert R; Solomon BD; Juusola J, 2019, 'Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature', Genetics in Medicine, 21, pp. 2036 - 2042, http://dx.doi.org/10.1038/s41436-019-0454-9

Field M; Dudding-Byth T; Arpone M; Baker EK; Aliaga SM; Rogers C; Hickerton C; Francis D; Phelan DG; Palmer EE; Amor DJ; Slater H; Bretherton L; Ling L; Godler DE, 2019, 'Significantly elevated FMR1 mRNA and mosaicism for methylated premutation and full mutation alleles in two brothers with autism features referred for fragile X testing', International Journal of Molecular Sciences, 20, pp. 3907, http://dx.doi.org/10.3390/ijms20163907

Lanoue V; Chai YJ; Brouillet JZ; Weckhuysen S; Palmer EE; Collins BM; Meunier FA; Palmer E, 2019, 'STXBP1 encephalopathy: Connecting neurodevelopmental disorders with α-synucleinopathies?', Neurology, 93, pp. 114 - 123, http://dx.doi.org/10.1212/WNL.0000000000007786

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

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