Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders
Evers, Jochem M G, Laskowski, Roman A, Bertolli, Marta, Clayton-Smith, Jill, Deshpande, Charu, Eason, Jacqueline, Elmslie, Frances, Flinter, Frances, Gardiner, Carol, Hurst, Jane A, Kingston, Helen, Kini, Usha, Lampe, Anne K, Lim, Derek, Male, Alison, Naik, Swati, Parker, Michael J, Price, Sue, Robert, Leema, Sarkar, Ajoy, Straub, Volker, Woods, Geoff, Thornton, Janet M, Wright, Caroline F
Published in Human molecular genetics (01.02.2017)
Published in Human molecular genetics (01.02.2017)
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Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants
Jacobs, Eva Z., Brown, Kathleen, Byler, Melissa C., D'haenens, Erika, Dheedene, Annelies, Henderson, Lindsay B., Humberson, Jennifer B., Jaarsveld, Richard H., Kanani, Farah, Lebel, Robert Roger, Millan, Francisca, Oegema, Renske, Oostra, Ann, Parker, Michael J., Rhodes, Lindsay, Saenz, Margarita, Seaver, Laurie H., Si, Yue, Vanlander, Arnaud, Vergult, Sarah, Callewaert, Bert
Published in Clinical genetics (01.02.2021)
Published in Clinical genetics (01.02.2021)
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How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum
BANKA, Siddharth, VEERAMACHANENI, Ratna, METCALFE, Kay, CHANDLER, Kate, MAGEE, Alex, STEWART, Fiona, MCCONNELL, Vivienne Pm, DONNELLY, Deirdre E, BERLAND, Siren, HOUGE, Gunnar, MORTON, Jenny E, OLEY, Christine, REARDON, William, REVENCU, Nicole, PARK, Soo-Mi, DAVIES, Sally J, FRY, Andrew E, ANN LYNCH, Sally, GILL, Harinder, SCHWEIGER, Susann, LAM, Wayne Wk, TOLMIE, John, MOHAMMED, Shehla N, HOWARD, Emma, HOBSON, Emma, SMITH, Audrey, BLYTH, Moira, BENNETT, Christopher, VASUDEVAN, Pradeep C, GARCIA-MINAUR, Sixto, HENDERSON, Alex, GOODSHIP, Judith, WRIGHT, Michael J, FISHER, Richard, BUNSTONE, Sancha, GIBBONS, Richard, PRICE, Susan M, DE SILVA, Deepthi C, KAREN TEMPLE, I, COLLINS, Amanda L, LACHLAN, Katherine, ELMSLIE, Frances, MCENTAGART, Meriel, CASTLE, Bruce, CLAYTON-SMITH, Jill, RAGGE, Nicola, BLACK, Graeme C, DONNAI, Dian, PARKER, Michael J, CROW, Yanick J, KERR, Bronwyn, KINGSTON, Helen
Published in European journal of human genetics : EJHG (01.04.2012)
Published in European journal of human genetics : EJHG (01.04.2012)
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Further delineation of phenotypic spectrum of SCN2A‐related disorder
Richardson, Ruth, Baralle, Diana, Bennett, Christopher, Briggs, Tracy, Bijlsma, Emilia K., Clayton‐Smith, Jill, Constantinou, Panayiotis, Foulds, Nicola, Jarvis, Joanna, Jewell, Rosalyn, Johnson, Diana S., McEntagart, Meriel, Parker, Michael J., Radley, Jessica A., Robertson, Lisa, Ruivenkamp, Claudia, Rutten, Julie W., Tellez, James, Turnpenny, Peter D., Wilson, Valerie, Wright, Michael, Balasubramanian, Meena
Published in American journal of medical genetics. Part A (01.03.2022)
Published in American journal of medical genetics. Part A (01.03.2022)
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Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature
Cleaver, Ruth, Berg, Jonathan, Craft, Emily, Foster, Alison, Gibbons, Richard J., Hobson, Emma, Lachlan, Katherine, Naik, Swati, Sampson, Julian R., Sharif, Saba, Smithson, Sarah, Parker, Michael J., Tatton‐Brown, Katrina
Published in American journal of medical genetics. Part A (01.03.2019)
Published in American journal of medical genetics. Part A (01.03.2019)
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Heterozygous variants in SPTBN1 cause intellectual disability and autism
Rosenfeld, Jill A., Xiao, Rui, Bekheirnia, Mir Reza, Kanani, Farah, Parker, Michael J., Koenig, Mary K., Haeringen, Arie, Ruivenkamp, Claudia, Rosmaninho‐Salgado, Joana, Almeida, Pedro M., Sá, Joaquim, Pinto Basto, Jorge, Palen, Emily, Oetjens, Kathryn F., Burrage, Lindsay C., Xia, Fan, Liu, Pengfei, Eng, Christine M., Yang, Yaping, Posey, Jennifer E., Lee, Brendan H.
Published in American journal of medical genetics. Part A (01.07.2021)
Published in American journal of medical genetics. Part A (01.07.2021)
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Work-Up and Outcome of Hepatic Resection for Peri-Hilar Cholangiocarcinoma (PH-CCA) without Staging Laparoscopy
Jegatheeswaran, Santhalingam, Stathakis, Panagiotis, Spiers, Harry V M, Mohammed, Fawwaz, Petras, Panagiotis, Satyadas, Thomas, Parker, Michael J, Lamarca, Angela, Jamdar, Saurabh, Sheen, Aali J, Siriwardena, Ajith K
Published in Cancers (06.04.2022)
Published in Cancers (06.04.2022)
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Dual diagnosis causing severe phenotype in a patient with Angelman syndrome
Kanani, Farah, Mordekar, Santosh, Parker, Michael J, Balasubramanian, Meena
Published in Clinical dysmorphology (01.07.2019)
Published in Clinical dysmorphology (01.07.2019)
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Mosaic structural variation in children with developmental disorders
King, Daniel A, Jones, Wendy D, Crow, Yanick J, Dominiczak, Anna F, Foster, Nicola A, Gaunt, Tom R, Harris, Jade, Hellens, Stephen W, Homfray, Tessa, Innes, Josie, Jones, Elizabeth A, Joss, Shelagh, Kulkarni, Abhijit, Mansour, Sahar, Morris, Andrew D, Parker, Michael J, Porteous, David J, Shihab, Hashem A, Smith, Blair H, Tatton-Brown, Katrina, Tolmie, John L, Trzaskowski, Maciej, Vasudevan, Pradeep C, Wakeling, Emma, Wright, Michael, Plomin, Robert, Timpson, Nicholas J, Hurles, Matthew E
Published in Human molecular genetics (15.05.2015)
Published in Human molecular genetics (15.05.2015)
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Effects of Pyridine Ring Substitutions on Affinity, Efficacy, and Subtype Selectivity of Neuronal Nicotinic Receptor Agonist Epibatidine
Avalos, Melva, Parker, Michael J, Maddox, Floyd N, Carroll, F Ivy, Luetje, Charles W
Published in The Journal of pharmacology and experimental therapeutics (01.09.2002)
Published in The Journal of pharmacology and experimental therapeutics (01.09.2002)
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Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications
Wolfe, Kate, McQuillin, Andrew, Alesi, Viola, Boudry Labis, Elise, Cutajar, Peter, Dallapiccola, Bruno, Dentici, Maria Lisa, Dieux‐Coeslier, Anne, Duban‐Bedu, Benedicte, Duelund Hjortshøj, Tina, Goel, Himanshu, Loddo, Sara, Morrogh, Deborah, Mosca‐Boidron, Anne‐Laure, Novelli, Antonio, Olivier‐Faivre, Laurence, Parker, Jennifer, Parker, Michael J., Patch, Christine, Pelling, Anna L., Smol, Thomas, Tümer, Zeynep, Vanakker, Olivier, van Haeringen, Arie, Vanlerberghe, Clémence, Strydom, Andre, Skuse, David, Bass, Nick
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.06.2018)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.06.2018)
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De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders
Nabais Sá, Maria J., El Tekle, Geniver, de Brouwer, Arjan P.M., Sawyer, Sarah L., del Gaudio, Daniela, Parker, Michael J., Kanani, Farah, van den Boogaard, Marie-José H., van Gassen, Koen, Van Allen, Margot I., Wierenga, Klaas, Purcarin, Gabriela, Elias, Ellen Roy, Begtrup, Amber, Keller-Ramey, Jennifer, Bernasocchi, Tiziano, van de Wiel, Laurens, Gilissen, Christian, Venselaar, Hanka, Pfundt, Rolph, Vissers, Lisenka E.L.M., Theurillat, Jean-Philippe P., de Vries, Bert B.A.
Published in American journal of human genetics (05.03.2020)
Published in American journal of human genetics (05.03.2020)
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Discovering misattributed paternity in genetic counselling: different ethical perspectives in two countries
Tozzo, Pamela, Caenazzo, Luciana, Parker, Michael J
Published in Journal of medical ethics (01.03.2014)
Published in Journal of medical ethics (01.03.2014)
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Heterogeneity of Nicotinic Receptor Class and Subunit mRNA Expression among Individual Parasympathetic Neurons from Rat Intracardiac Ganglia
Poth, Kevin, Nutter, Thomas J, Cuevas, Javier, Parker, Michael J, Adams, David J, Luetje, Charles W
Published in The Journal of neuroscience (15.01.1997)
Published in The Journal of neuroscience (15.01.1997)
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Evaluation of the effect of wheat aleurone-rich foods on markers of antioxidant status, inflammation and endothelial function in apparently healthy men and women
Price, Ruth K., Wallace, Julie M. W., Hamill, Lesley L., Keaveney, Edel M., Strain, J. J., Parker, Michael J., Welch, Robert W.
Published in British journal of nutrition (14.11.2012)
Published in British journal of nutrition (14.11.2012)
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Computer Control of Drug Delivery by Continuous Intravenous Infusion: Bridging the Gap between Intended and Actual Drug Delivery
Parker, Michael J, Lovich, Mark A, Tsao, Amy C, Wei, Abraham E, Wakim, Matthew G, Maslov, Mikhail Y, Tsukada, Hisashi, Peterfreund, Robert A
Published in Anesthesiology (Philadelphia) (01.03.2015)
Published in Anesthesiology (Philadelphia) (01.03.2015)
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Drug Infusion System Manifold Dead-Volume Impacts the Delivery Response Time to Changes in Infused Medication Doses In Vitro and Also In Vivo in Anesthetized Swine
Lovich, Mark A, Wakim, Matthew G, Wei, Abraham, Parker, Michael J, Maslov, Mikhail Y, Pezone, Matthew J, Tsukada, Hisashi, Peterfreund, Robert A
Published in Anesthesia and analgesia (01.12.2013)
Published in Anesthesia and analgesia (01.12.2013)
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