Initiation of an Emulsion Microinfusion: Flow Direction Influences Delivery Onset Rate
Tsao, Amy C., Parker, Michael J., Lovich, Mark A., Suja, Vineeth Chandran, Deng, Hao, Houle, Timothy, Peterfreund, Robert A.
Published in European journal of pharmaceutical sciences (01.05.2022)
Published in European journal of pharmaceutical sciences (01.05.2022)
Get full text
Journal Article
BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome
Miller, Kerry A, Cruz Walma, David A, Pinkas, Daniel M, Tooze, Rebecca S, Bufton, Joshua C, Richardson, William, Manning, Charlotte E, Hunt, Alice E, Cros, Julien, Hartill, Verity, Parker, Michael J, McGowan, Simon J, Twigg, Stephen R F, Chalk, Rod, Staunton, David, Johnson, David, Wilkie, Andrew O M, Bullock, Alex N
Published in Journal of medical genetics (31.01.2024)
Published in Journal of medical genetics (31.01.2024)
Get full text
Journal Article
Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation
Yan, Kezhi, Rousseau, Justine, Littlejohn, Rebecca Okashah, Kiss, Courtney, Lehman, Anna, Rosenfeld, Jill A., Stumpel, Constance T.R., Stegmann, Alexander P.A., Robak, Laurie, Scaglia, Fernando, Nguyen, Thi Tuyet Mai, Fu, He, Ajeawung, Norbert F., Camurri, Maria Vittoria, Li, Lin, Gardham, Alice, Panis, Bianca, Almannai, Mohammed, Sacoto, Maria J. Guillen, Baskin, Berivan, Ruivenkamp, Claudia, Xia, Fan, Bi, Weimin, Cho, Megan T., Potjer, Thomas P., Santen, Gijs W.E., Parker, Michael J., Canham, Natalie, McKinnon, Margaret, Potocki, Lorraine, MacKenzie, Jennifer J., Roeder, Elizabeth R., Campeau, Philippe M., Yang, Xiang-Jiao
Published in American journal of human genetics (05.01.2017)
Published in American journal of human genetics (05.01.2017)
Get full text
Journal Article
A procalcitonin-based algorithm to guide antibiotic use in patients with acute pancreatitis (PROCAP): a single-centre, patient-blinded, randomised controlled trial
Siriwardena, Ajith K, Jegatheeswaran, Santhalingam, Mason, James M
Published in The lancet. Gastroenterology & hepatology (01.10.2022)
Published in The lancet. Gastroenterology & hepatology (01.10.2022)
Get more information
Journal Article
B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability
Houge, Gunnar, Haesen, Dorien, Vissers, Lisenka E L M, Mehta, Sarju, Parker, Michael J, Wright, Michael, Vogt, Julie, McKee, Shane, Tolmie, John L, Cordeiro, Nuno, Kleefstra, Tjitske, Willemsen, Marjolein H, Reijnders, Margot R F, Berland, Siren, Hayman, Eli, Lahat, Eli, Brilstra, Eva H, van Gassen, Koen L I, Zonneveld-Huijssoon, Evelien, de Bie, Charlotte I, Hoischen, Alexander, Eichler, Evan E, Holdhus, Rita, Steen, Vidar M, Døskeland, Stein Ove, Hurles, Matthew E, FitzPatrick, David R, Janssens, Veerle
Published in The Journal of clinical investigation (01.08.2015)
Published in The Journal of clinical investigation (01.08.2015)
Get full text
Journal Article
Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia
Nguyen, Thi Tuyet Mai, Murakami, Yoshiko, Sheridan, Eamonn, Ehresmann, Sophie, Rousseau, Justine, St-Denis, Anik, Chai, Guoliang, Ajeawung, Norbert F., Fairbrother, Laura, Reimschisel, Tyler, Bateman, Alexandra, Berry-Kravis, Elizabeth, Xia, Fan, Tardif, Jessica, Parry, David A., Logan, Clare V., Diggle, Christine, Bennett, Christopher P., Hattingh, Louise, Rosenfeld, Jill A., Perry, Michael Scott, Parker, Michael J., Le Deist, Françoise, Zaki, Maha S., Ignatius, Erika, Isohanni, Pirjo, Lönnqvist, Tuula, Carroll, Christopher J., Johnson, Colin A., Gleeson, Joseph G., Kinoshita, Taroh, Campeau, Philippe M.
Published in American journal of human genetics (02.11.2017)
Published in American journal of human genetics (02.11.2017)
Get full text
Journal Article
KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy‐lysosome defect
Metz, Kyle A., Teng, Xinchen, Coppens, Isabelle, Lamb, Heather M., Wagner, Bart E., Rosenfeld, Jill A., Chen, Xianghui, Zhang, Yu, Kim, Hee Jong, Meadow, Michael E., Wang, Tim Sen, Haberlandt, Edda D., Anderson, Glenn W., Leshinsky‐Silver, Esther, Bi, Weimin, Markello, Thomas C., Pratt, Marsha, Makhseed, Nawal, Garnica, Adolfo, Danylchuk, Noelle R., Burrow, Thomas A., Jayakar, Parul, McKnight, Dianalee, Agadi, Satish, Gbedawo, Hatha, Stanley, Christine, Alber, Michael, Prehl, Isabelle, Peariso, Katrina, Ong, Min Tsui, Mordekar, Santosh R., Parker, Michael J., Crooks, Daniel, Agrawal, Pankaj B., Berry, Gerard T., Loddenkemper, Tobias, Yang, Yaping, Maegawa, Gustavo H. B., Aouacheria, Abdel, Markle, Janet G., Wohlschlegel, James A., Hartman, Adam L., Hardwick, J. Marie
Published in Annals of neurology (01.11.2018)
Published in Annals of neurology (01.11.2018)
Get full text
Journal Article
ZMYND11‐related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum
Yates, Thabo M., Drucker, Morgan, Barnicoat, Angela, Low, Karen, Gerkes, Erica H., Fry, Andrew E., Parker, Michael J., O'Driscoll, Mary, Charles, Perrine, Cox, Helen, Marey, Isabelle, Keren, Boris, Rinne, Tuula, McEntagart, Meriel, Ramachandran, Vijaya, Drury, Suzanne, Vansenne, Fleur, Sival, Deborah A., Herkert, Johanna C., Callewaert, Bert, Tan, Wen‐Hann, Balasubramanian, Meena
Published in Human mutation (01.05.2020)
Published in Human mutation (01.05.2020)
Get full text
Journal Article
Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene’s candidacy in 6q16.1 deletions
Schönauer, Ria, Jin, Wenjun, Findeisen, Christin, Valenzuela, Irene, Devlin, Laura Alice, Murrell, Jill, Bedoukian, Emma C., Pöschla, Linda, Hantmann, Elena, Riedhammer, Korbinian M., Hoefele, Julia, Platzer, Konrad, Biemann, Ronald, Campeau, Philipp M., Münch, Johannes, Heyne, Henrike, Hoffmann, Anne, Ghosh, Adhideb, Sun, Wenfei, Dong, Hua, Noé, Falko, Wolfrum, Christian, Woods, Emily, Parker, Michael J., Neatu, Ruxandra, Le Guyader, Gwenael, Bruel, Ange-Line, Perrin, Laurence, Spiewak, Helena, Missotte, Isabelle, Fourgeaud, Melanie, Michaud, Vincent, Lacombe, Didier, Paolucci, Sarah A., Buchan, Jillian G., Glissmeyer, Margaret, Popp, Bernt, Blüher, Matthias, Sayer, John A., Halbritter, Jan
Published in American journal of human genetics (01.06.2023)
Published in American journal of human genetics (01.06.2023)
Get full text
Journal Article
FOXP1-related intellectual disability syndrome: a recognisable entity
Meerschaut, Ilse, Rochefort, Daniel, Revençu, Nicole, Pètre, Justine, Corsello, Christina, Rouleau, Guy A, Hamdan, Fadi F, Michaud, Jacques L, Morton, Jenny, Radley, Jessica, Ragge, Nicola, García-Miñaúr, Sixto, Lapunzina, Pablo, Bralo, Maria Palomares, Mori, Maria Ángeles, Moortgat, Stéphanie, Benoit, Valérie, Mary, Sandrine, Bockaert, Nele, Oostra, Ann, Vanakker, Olivier, Velinov, Milen, de Ravel, Thomy JL, Mekahli, Djalila, Sebat, Jonathan, Vaux, Keith K, DiDonato, Nataliya, Hanson-Kahn, Andrea K, Hudgins, Louanne, Dallapiccola, Bruno, Novelli, Antonio, Tarani, Luigi, Andrieux, Joris, Parker, Michael J, Neas, Katherine, Ceulemans, Berten, Schoonjans, An-Sofie, Prchalova, Darina, Havlovicova, Marketa, Hancarova, Miroslava, Budisteanu, Magdalena, Dheedene, Annelies, Menten, Björn, Dion, Patrick A, Lederer, Damien, Callewaert, Bert
Published in Journal of medical genetics (01.09.2017)
Published in Journal of medical genetics (01.09.2017)
Get full text
Journal Article
Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies
Schröter, Julian, Popp, Bernt, Brennenstuhl, Heiko, Döring, Jan H, Donze, Stephany H, Bijlsma, Emilia K, van Haeringen, Arie, Huhle, Dagmar, Jestaedt, Leonie, Merkenschlager, Andreas, Arelin, Maria, Gräfe, Daniel, Neuser, Sonja, Oates, Stephanie, Pal, Deb K, Parker, Michael J, Lemke, Johannes R, Hoffmann, Georg F, Kölker, Stefan, Harting, Inga, Syrbe, Steffen
Published in European journal of human genetics : EJHG (01.03.2022)
Published in European journal of human genetics : EJHG (01.03.2022)
Get full text
Journal Article
Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return
Huth, Emily A, Zhao, Xiaonan, Owen, Nichole, Luna, Pamela N, Vogel, Ida, Dorf, Inger L H, Joss, Shelagh, Clayton-Smith, Jill, Parker, Michael J, Louw, Jacoba J, Gewillig, Marc, Breckpot, Jeroen, Kraus, Alison, Sasaki, Erina, Kini, Usha, Burgess, Trent, Tan, Tiong Y, Armstrong, Ruth, Neas, Katherine, Ferrero, Giovanni B, Brusco, Alfredo, Kerstjens-Frederikse, Wihelmina S, Rankin, Julia, Helvaty, Lindsey R, Landis, Benjamin J, Geddes, Gabrielle C, McBride, Kim L, Ware, Stephanie M, Shaw, Chad A, Lalani, Seema R, Rosenfeld, Jill A, Scott, Daryl A
Published in European journal of human genetics : EJHG (01.12.2023)
Published in European journal of human genetics : EJHG (01.12.2023)
Get full text
Journal Article
Extending the phenotype associated with the CSNK2A1‐related Okur–Chung syndrome—A clinical study of 11 individuals
Owen, Ceris I., Bowden, Ramsay, Parker, Michael J., Patterson, Jo, Patterson, Joan, Price, Sue, Sarkar, Ajoy, Castle, Bruce, Deshpande, Charulatha, Splitt, Miranda, Ghali, Neeti, Dean, John, Green, Andrew J., Crosby, Charlene, Tatton‐Brown, Katrina
Published in American journal of medical genetics. Part A (01.05.2018)
Published in American journal of medical genetics. Part A (01.05.2018)
Get full text
Journal Article
A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype
Beunders, Gea, van de Kamp, Jiddeke, Vasudevan, Pradeep, Morton, Jenny, Smets, Katrien, Kleefstra, Tjitske, de Munnik, Sonja A, Schuurs-Hoeijmakers, Janneke, Ceulemans, Berten, Zollino, Marcella, Hoffjan, Sabine, Wieczorek, Stefan, So, Joyce, Mercer, Leanne, Walker, Tanya, Velsher, Lea, Parker, Michael J, Magee, Alex C, Elffers, Bart, Kooy, R Frank, Yntema, Helger G, Meijers-Heijboer, Elizabeth J, Sistermans, Erik A
Published in Journal of medical genetics (01.08.2016)
Published in Journal of medical genetics (01.08.2016)
Get full text
Journal Article
Clinical findings of 21 previously unreported probands with HNRNPU‐related syndrome and comprehensive literature review
Durkin, Anna, Albaba, Shadi, Fry, Andrew E., Morton, Jenny E., Douglas, Andrew, Beleza, Ana, Williams, Denise, Volker‐Touw, Catharina M.L., Lynch, Sally A., Canham, Natalie, Clowes, Virginia, Straub, Volker, Lachlan, Katherine, Gibbon, Frances, El Gamal, Mayy, Varghese, Vinod, Parker, Michael J., Newbury‐Ecob, Ruth, Turnpenny, Peter D., Gardham, Alice, Ghali, Neeti, Balasubramanian, Meena
Published in American journal of medical genetics. Part A (01.07.2020)
Published in American journal of medical genetics. Part A (01.07.2020)
Get full text
Journal Article
The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients
Ostrowski, Philip J., Zachariou, Anna, Loveday, Chey, Beleza‐Meireles, Ana, Bertoli, Marta, Dean, John, Douglas, Andrew G. L., Ellis, Ian, Foster, Alison, Graham, John M., Hague, Jennifer, Hilhorst‐Hofstee, Yvonne, Hoffer, Mariette, Johnson, Diana, Josifova, Dragana, Kant, Sarina G., Kini, Usha, Lachlan, Katherine, Lam, Wayne, Lees, Melissa, Lynch, Sally, Maitz, Silvia, McKee, Shane, Metcalfe, Kay, Nathanson, Katherine, Ockeloen, Charlotte W., Parker, Michael J., Pierson, Tyler M., Rahikkala, Elisa, Sanchez‐Lara, Pedro A., Spano, Alice, Van Maldergem, Lionel, Cole, Trevor, Douzgou, Sofia, Tatton‐Brown, Katrina
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.12.2019)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.12.2019)
Get full text
Journal Article