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All papers authored by Elizabeth Palmer

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2023 Eden G. Robertson

ORCID

, Natalie J. Roberts

ORCID

, Fleur Le Marne, Erin Beavis, Rebecca Macintosh, Lauren Kelada, Stephanie Best

ORCID

, Ilias Goranitis

ORCID

, Kristine Pierce, Deepak Gill, Rani Sachdev, Ann Bye

ORCID

, Elizabeth E. Palmer

ORCID

“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

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Alexander J. M. Dingemans, Max Hinne, Kim M. G. Truijen, Lia Goltstein

ORCID

, Jeroen van Reeuwijk

ORCID

, Nicole de Leeuw

ORCID

, Janneke Schuurs-Hoeijmakers, Rolph Pfundt, Illja J. Diets, Joery den Hoed

ORCID

ORCID

, Jet Coenen-Van der Spek

ORCID

, Sandra Jansen, Bregje W. van Bon, Noraly Jonis

ORCID

and 18 other authors

PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework

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2021 Grace McKeon

ORCID

, Elizabeth E. Palmer

ORCID

, Rebecca Macintosh, Suzanne M. Nevin

ORCID

, Lauren Wheatley, Simon Rosenbaum

Feasibility of a mental health informed physical activity intervention for the carers of children with developmental and epileptic encephalopathy

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Smrithi Salian

ORCID

, Marcello Scala

ORCID

, Thi Tuyet Mai Nguyen

ORCID

, Mariasavina Severino

ORCID

, Annalaura Torella

ORCID

, Michele Pinelli

ORCID

, Andrea Accogli, Beth Hudson, Elisabetta Amadori

ORCID

ORCID

, Martin J. Larsen

ORCID

, Megan Boothe, Lene Sperling, Tawfeg Ben‐Omran, Ieva Miceikaite and 11 other authors

Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype–phenotype spectrum and functional impact on GPI ‐anchored proteins

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Hui Wen Loh

ORCID

, Chui Ping Ooi

ORCID

, Elizabeth Palmer

ORCID

, Prabal Datta Barua, Sengul Dogan, Turker Tuncer

ORCID

, Mehmet Baygin, U. Rajendra Acharya

ORCID

GaborPDNet: Gabor Transformation and Deep Neural Network for Parkinson’s Disease Detection Using EEG Signals

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Michael J. Field, Raman Kumar, Anna Hackett, Sayaka Kayumi

ORCID

, Cheryl A. Shoubridge

ORCID

, Lisa J. Ewans, Atma M. Ivancevic, Tracy Dudding‐Byth, Renée Carroll, Thessa Kroes, Alison E. Gardner, Patricia Sullivan, Thuong T. Ha, Charles E. Schwartz, Mark J. Cowley and 7 other authors

Different types of disease‐causing noncoding variants revealed by genomic and gene expression analyses in families with X‐linked intellectual disability

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Elizabeth Emma Palmer

ORCID

, Rani Sachdev, Rebecca Macintosh, Uirá Souto Melo, Stefan Mundlos, Sarah Righetti

ORCID

, Tejaswi Kandula, Andre E. Minoche, Clare Puttick, Velimir Gayevskiy, Luke Hesson, Senel Idrisoglu, Cheryl Shoubridge

ORCID

, Monica Hong Ngoc Thai

ORCID

, Ryan L. Davis

ORCID

and 13 other authors

Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies

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2020 Elizabeth E. Palmer

ORCID

, Renee Carroll, Marie Shaw, Raman Kumar, Andre E. Minoche, Melanie Leffler, Lucinda Murray, Rebecca Macintosh, Dale Wright, Chris Troedson, Fiona McKenzie, Sharron Townshend, Michelle Ward, Urwah Nawaz, Anja Ravine and 16 other authors

RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features

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Suzanne M. Nevin, Claire E. Wakefield, Clarissa E. Schilstra, Brittany C. McGill, Ann Bye, Elizabeth E. Palmer

ORCID

The information needs of parents of children with early-onset epilepsy: A systematic review

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Huafrin Kotwal, Jane Fleming, Kristine Barlow-Stewart, Jackie Boyle, Letitia Silberbauer, Melanie Leffler, Lucinda Murray, Elizabeth E. Palmer

ORCID

Pre-genetics clinic resource evaluation for adults with intellectual disability: The pre-genetics clinic aid

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Raman Kumar, Elizabeth Palmer

ORCID

, Alison E. Gardner, Renee Carroll, Siddharth Banka, Ola Abdelhadi, Dian Donnai, Ype Elgersma, Cynthia J. Curry, Alice Gardham, Mohnish Suri, Rishikesh Malla, Lauren Ilana Brady, Mark Tarnopolsky, Dimitar N. Azmanov and 13 other authors

Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor

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This paper was not found in any repository; the policy of its publisher is unknown or unclear.

T. Wang, K. Hoekzema, D. Vecchio, H. Wu, A. Sulovari, B. P. Coe, Gillentine, Wilfert, L. A. Perez-Jurado, M. Kvarnung, Y. Sleyp, R. K. Earl, J. A. Rosenfeld, M. R. Geisheker, L. Han and 219 other authors

Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders (Nature Communications, (2020), 11, 1, (4932), 10.1038/s41467-020-18723-y)

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Tianyun Wang, Kendra Hoekzema, Davide Vecchio, Huidan Wu, Arvis Sulovari, Bradley P. Coe, Madelyn A. Gillentine, Amy B. Wilfert, Luis A. Perez-Jurado, Malin Kvarnung, Yoeri Sleyp, Rachel K. Earl, Jill A. Rosenfeld, Madeleine R. Geisheker, Lin Han and 221 other authors

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

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S. A. de Munnik, Hanyin Cheng, Simona Capponi, P. G. Stefan, Emma Wakeling, Elaine Marchi, Alan Rope, Quan Li, Aimé Lumaka, Prosper Lukusa, Mengge Zhao, Koenraad Devriendt, Joris Vermeesch, Jennifer E. Posey, Chunhua Weng and 43 other authors

Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity

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2019 Michael Field, Tracy Dudding-Byth, Marta Arpone, Emma K. Baker

ORCID

, Solange M. Aliaga, Carolyn Rogers, Chriselle Hickerton, David Francis, Dean G. Phelan, Elizabeth E. Palmer

ORCID

, David J. Amor, Howard Slater, Lesley Bretherton, Ling Ling, David E. Godler

ORCID

Significantly Elevated FMR1 mRNA and Mosaicism for Methylated Premutation and Full Mutation Alleles in Two Brothers with Autism Features Referred for Fragile X Testing

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Vanessa Lanoue, Ye Jin Chai, Julie Z. Brouillet, Sarah Weckhuysen, Elizabeth E. Palmer

ORCID

, Brett M. Collins, Frederic A. Meunier

STXBP1 encephalopathy

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Michael J. Parker, Miranda Splitt, Philip J. Jensik, Elizabeth E. Palmer

ORCID

, Stacey R. McGee, Rani K. Sachdev, Nayana Lahiri, Abbey A. Scott, Evan P. McNeil, Hester Y. Kroes, Naama Orenstein, Randi J. Hagerman, Maria João Nabais Sá

ORCID

, Rachel E. Harrison, Tara Montgomery and 23 other authors

De novo and biallelic DEAF1 variants cause a phenotypic spectrum

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Elizabeth E. Palmer

ORCID

, Seungbeom Hong, Fatema Al Zahrani, Mais O. Hashem, Fajr A. Aleisa, Heba M. Jalal Ahmed, Tejaswi Kandula, Heba M. Jalal Ahmed, Rebecca Macintosh, Velimir Gayevskiy, Jill A. Rosenfeld, Alexander P. Drew, Andre E. Minoche, Rui Xiao, Mark J. Cowley and 30 other authors

De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome

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Erin Torti

ORCID

, Boris Keren, Elizabeth E. Palmer

ORCID

, Zehua Zhu, Alexandra Afenjar, Ilse J. Anderson, Marisa V. Andrews, Celia Atkinson, Margaret Au, Susan A. Berry, Kevin M. Bowling, Jackie Boyle, Julien Buratti, Sara S. Cathey, Perrine Charles and 38 other authors

Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature

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2018 Kishore R. Kumar

ORCID

, Gautam Wali, Ryan L. Davis, Amali C. Mallawaarachchi, Elizabeth E. Palmer

ORCID

, Velimir Gayevskiy

ORCID

, Andre E. Minoche, David Veivers, Marcel E. Dinger, Alan Mackay-Sim, Mark J. Cowley, Carolyn M. Sue

Expanding the spectrum of PEX16 mutations and novel insights into disease mechanisms

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