Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy
Muona, Mikko, Ishimura, Ryosuke, Laari, Anni, Ichimura, Yoshinobu, Linnankivi, Tarja, Keski-Filppula, Riikka, Herva, Riitta, Rantala, Heikki, Paetau, Anders, Pöyhönen, Minna, Obata, Miki, Uemura, Takefumi, Karhu, Thomas, Bizen, Norihisa, Takebayashi, Hirohide, McKee, Shane, Parker, Michael J., Akawi, Nadia, McRae, Jeremy, Hurles, Matthew E., Kuismin, Outi, Kurki, Mitja I., Anttonen, Anna-Kaisa, Tanaka, Keiji, Palotie, Aarno, Waguri, Satoshi, Lehesjoki, Anna-Elina, Komatsu, Masaaki
Published in American journal of human genetics (01.09.2016)
Published in American journal of human genetics (01.09.2016)
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Journal Article
Science in the time of COVID-19: Reflections on the UK Events Research Programme
Marteau, Theresa M., Parker, Michael J., Edmunds, W. John
Published in Nature communications (10.08.2022)
Published in Nature communications (10.08.2022)
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Journal Article
De Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual Disability
Grozeva, Detelina, Carss, Keren, Spasic-Boskovic, Olivera, Parker, Michael J., Archer, Hayley, Firth, Helen V., Park, Soo-Mi, Canham, Natalie, Holder, Susan E., Wilson, Meredith, Hackett, Anna, Field, Michael, Floyd, James A.B., Hurles, Matthew, Raymond, F. Lucy
Published in American journal of human genetics (03.04.2014)
Published in American journal of human genetics (03.04.2014)
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Journal Article
Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features
Tham, Emma, Lindstrand, Anna, Santani, Avni, Malmgren, Helena, Nesbitt, Addie, Dubbs, Holly A., Zackai, Elaine H., Parker, Michael J., Millan, Francisca, Rosenbaum, Kenneth, Wilson, Golder N., Nordgren, Ann
Published in American journal of human genetics (05.03.2015)
Published in American journal of human genetics (05.03.2015)
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Journal Article
De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability
Parker, Michael J., Fryer, Alan E., Shears, Deborah J., Lachlan, Katherine L., McKee, Shane A., Magee, Alex C., Mohammed, Shehla, Vasudevan, Pradeep C., Park, Soo-Mi, Benoit, Valérie, Lederer, Damien, Maystadt, Isabelle, study, DDD, FitzPatrick, David R.
Published in American journal of medical genetics. Part A (01.10.2015)
Published in American journal of medical genetics. Part A (01.10.2015)
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Journal Article
PROCalcitonin-based algorithm for antibiotic use in Acute Pancreatitis (PROCAP): study protocol for a randomised controlled trial
Siriwardena, Ajith K, Jegatheeswaran, Santhalingam, Mason, James M, Baltatzis, Minas, Chan, Anthony, Sheen, Aali J, O'Reilly, Derek, Jamdar, Saurabh, Deshpande, Rahul, de Liguori Carino, Nicola, Satyadas, Thomas, Qamruddin, Ahmed, Hayden, Katharine, Parker, Michael J, Butler, John, Rajai, Azita, McIntyre, Ben
Published in Current controlled trials in cardiovascular medicine (29.07.2019)
Published in Current controlled trials in cardiovascular medicine (29.07.2019)
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Journal Article
Mutations in LRP5 or FZD4 Underlie the Common Familial Exudative Vitreoretinopathy Locus on Chromosome 11q
Toomes, Carmel, Bottomley, Helen M., Jackson, Richard M., Towns, Katherine V., Scott, Sheila, Mackey, David A., Craig, Jamie E., Jiang, Li, Yang, Zhenglin, Trembath, Richard, Woodruff, Geoffrey, Gregory-Evans, Cheryl Y., Gregory-Evans, Kevin, Parker, Michael J., Black, Graeme C.M., Downey, Louise M., Zhang, Kang, Inglehearn, Chris F.
Published in American journal of human genetics (01.04.2004)
Published in American journal of human genetics (01.04.2004)
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Journal Article
Ethical implications of disparities in translation genomic medicine: from research to practice
Suleman, Mehrunisha, Parker, Michael J, Qureshi, Nadeem
Published in Journal of medical ethics (01.07.2024)
Published in Journal of medical ethics (01.07.2024)
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Journal Article
Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders
Wright, Caroline F, McRae, Jeremy F, Clayton, Stephen, Gallone, Giuseppe, Aitken, Stuart, FitzGerald, Tomas W, Jones, Philip, Prigmore, Elena, Rajan, Diana, Lord, Jenny, Sifrim, Alejandro, Kelsell, Rosemary, Parker, Michael J, Barrett, Jeffrey C, Hurles, Matthew E, FitzPatrick, David R, Firth, Helen V
Published in Genetics in medicine (01.10.2018)
Published in Genetics in medicine (01.10.2018)
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Journal Article
PSD93 Regulates Synaptic Stability at Neuronal Cholinergic Synapses
Parker, Michael J, Zhao, Shengli, Bredt, David S, Sanes, Joshua R, Feng, Guoping
Published in The Journal of neuroscience (14.01.2004)
Published in The Journal of neuroscience (14.01.2004)
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Journal Article
Ethical preparedness in genomic medicine: how NHS clinical scientists navigate ethical issues
Sahan, Kate, Lyle, Kate, Carley, Helena, Hallowell, Nina, Parker, Michael J, Lucassen, Anneke M
Published in Journal of medical ethics (01.08.2024)
Published in Journal of medical ethics (01.08.2024)
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Journal Article
Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland
Wright, Caroline F., Campbell, Patrick, Eberhardt, Ruth Y., Aitken, Stuart, Perrett, Daniel, Brent, Simon, Danecek, Petr, Gardner, Eugene J., Chundru, V. Kartik, Lindsay, Sarah J., Andrews, Katrina, Hampstead, Juliet, Kaplanis, Joanna, Samocha, Kaitlin E., Middleton, Anna, Foreman, Julia, Hobson, Rachel J., Parker, Michael J., Martin, Hilary C., FitzPatrick, David R., Hurles, Matthew E., Firth, Helen V.
Published in The New England journal of medicine (27.04.2023)
Published in The New England journal of medicine (27.04.2023)
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Journal Article
Ethical issues in Nipah virus control and research: addressing a neglected disease
Johnson, Tess, Jamrozik, Euzebiusz, Hurst, Tara, Cheah, Phaik Yeong, Parker, Michael J
Published in Journal of medical ethics (09.12.2023)
Published in Journal of medical ethics (09.12.2023)
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Journal Article
SARS-CoV-2 challenge studies: ethics and risk minimisation
Bull, Susan, Jamrozik, Euzebiusz, Binik, Ariella, Parker, Michael J
Published in Journal of medical ethics (01.12.2021)
Published in Journal of medical ethics (01.12.2021)
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Journal Article
Getting rights right: implementing ‘Martha’s Rule
Graham, Mackenzie, Hanson, Isabel, Hart, James, Young, Peter, Lignou, Sapfo, Parker, Michael J, Sheehan, Mark
Published in Journal of medical ethics (06.01.2024)
Published in Journal of medical ethics (06.01.2024)
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Journal Article
Maternal obesity and baseline vitamin D insufficiency alter the response to vitamin D supplementation: a double-blind, randomized trial in pregnant women
Alhomaid, Raghad M, Mulhern, Maria S, Strain, JJ, Laird, Eamon, Healy, Martin, Parker, Michael J, McCann, Mary T
Published in The American journal of clinical nutrition (01.09.2021)
Published in The American journal of clinical nutrition (01.09.2021)
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Journal Article
The genetic assessment of looked after children: common reasons for referral and recent advances
Parker, Michael J, Teasdale, Katherine, Parker, Michael J
Published in Archives of Disease in Childhood (01.06.2016)
Published in Archives of Disease in Childhood (01.06.2016)
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Journal Article
Book Review
Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly
Pengelly, Reuben J, Greville-Heygate, Stephanie, Schmidt, Susanne, Seaby, Eleanor G, Jabalameli, M Reza, Mehta, Sarju G, Parker, Michael J, Goudie, David, Fagotto-Kaufmann, Christine, Mercer, Catherine, Debant, Anne, Ennis, Sarah, Baralle, Diana
Published in Journal of medical genetics (01.11.2016)
Published in Journal of medical genetics (01.11.2016)
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Journal Article
ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder
Cuvertino, Sara, Stuart, Helen M., Chandler, Kate E., Roberts, Neil A., Armstrong, Ruth, Bernardini, Laura, Bhaskar, Sanjeev, Callewaert, Bert, Clayton-Smith, Jill, Davalillo, Cristina Hernando, Deshpande, Charu, Devriendt, Koenraad, Digilio, Maria C., Dixit, Abhijit, Edwards, Matthew, Friedman, Jan M., Gonzalez-Meneses, Antonio, Joss, Shelagh, Kerr, Bronwyn, Lampe, Anne Katrin, Langlois, Sylvie, Lennon, Rachel, Loget, Philippe, Ma, David Y.T., McGowan, Ruth, Des Medt, Maryse, O’Sullivan, James, Odent, Sylvie, Parker, Michael J., Pebrel-Richard, Céline, Petit, Florence, Stark, Zornitza, Stockler-Ipsiroglu, Sylvia, Tinschert, Sigrid, Vasudevan, Pradeep, Villa, Olaya, White, Susan M., Zahir, Farah R., Woolf, Adrian S., Banka, Siddharth
Published in American journal of human genetics (07.12.2017)
Published in American journal of human genetics (07.12.2017)
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Journal Article