Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disorders

por Evesson, Frances J, Dziaduch, Gregory, Bryen, Samantha J, Moore, Francesca, Pittman, Sara, Devanapalli, Beena, Waddell, Leigh B, Ryan, Monique M, Menezes, Manoj P, Weihl, Conrad C, Tolun, Adviye Ayper, Zaidman, Craig, Young, Helen, Adès, Lesley C, Cooper, Sandra T
Publicado 2023

De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues

por Smits, Daphne J., Schot, Rachel, Popescu, Cristiana A., Dias, Kerith-Rae, Ades, Lesley, Briere, Lauren C., Sweetser, David A., Kushima, Itaru, Aleksic, Branko, Khan, Suliman, Karageorgou, Vasiliki, Ordonez, Natalia, Sleutels, Frank J. G. T., van der Kaay, Daniëlle C. M., Van Mol, Christine, Van Esch, Hilde, Bertoli-Avella, Aida M., Roscioli, Tony, Mancini, Grazia M. S.
Publicado 2023

HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study

por Friez, Michael J, Brooks, Susan Sklower, Stevenson, Roger E, Field, Michael, Basehore, Monica J, Adès, Lesley C, Sebold, Courtney, McGee, Stephen, Saxon, Samantha, Skinner, Cindy, Craig, Maria E, Murray, Lucy, Simensen, Richard J, Yap, Ying Yzu, Shaw, Marie A, Gardner, Alison, Corbett, Mark, Kumar, Raman, Bosshard, Matthias, van Loon, Barbara, Tarpey, Patrick S, Abidi, Fatima, Gecz, Jozef, Schwartz, Charles E
Publicado 2016

Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency

por Murray, Jennie E, Bicknell, Louise S, Yigit, Gökhan, Duker, Angela L, van Kogelenberg, Margriet, Haghayegh, Sara, Wieczorek, Dagmar, Kayserili, Hülya, Albert, Michael H, Wise, Carol A, Brandon, January, Kleefstra, Tjitske, Warris, Adilia, van der Flier, Michiel, Bamforth, J Steven, Doonanco, Kurston, Adès, Lesley, Ma, Alan, Field, Michael, Johnson, Diana, Shackley, Fiona, Firth, Helen, Woods, C Geoffrey, Nürnberg, Peter, Gatti, Richard A, Hurles, Matthew, Bober, Michael B, Wollnik, Bernd, Jackson, Andrew P
Publicado 2014

Clinical History and Management Recommendations of the Smooth Muscle Dysfunction Syndrome Due to ACTA2 Arginine 179 Alterations

por Regalado, Ellen S., Mellor-Crummey, Lauren, De Backer, Julie, Braverman, Alan C., Ades, Lesley, Benedict, Susan, Bradley, Timothy J., Brickner, M. Elizabeth, Chatfield, Kathryn C., Child, Anne, Feist, Cori, Holmes, Kathryn W., Iannucci, Glen, Lorenz, Birgit, Mark, Paul, Morisaki, Takayuki, Morisaki, Hiroko, Morris, Shaine A., Mitchell, Anna L., Ostergaard, John R., Richer, Julie, Sallee, Denver, Shalhub, Sherene, Tekin, Mustafa, Estrera, Anthony, Musolino, Patricia, Yetman, Anji, Pyeritz, Reed, Milewicz, Dianna M.
Publicado 2018

Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey

por Briggs, Tracy A., Rice, Gillian I., Adib, Navid, Ades, Lesley, Barete, Stephane, Baskar, Kannan, Baudouin, Veronique, Cebeci, Ayse N., Clapuyt, Philippe, Coman, David, De Somer, Lien, Finezilber, Yael, Frydman, Moshe, Guven, Ayla, Heritier, Sébastien, Karall, Daniela, Kulkarni, Muralidhar L., Lebon, Pierre, Levitt, David, Le Merrer, Martine, Linglart, Agnes, Livingston, John H., Navarro, Vincent, Okenfuss, Ericka, Puel, Anne, Revencu, Nicole, Scholl-Bürgi, Sabine, Vivarelli, Marina, Wouters, Carine, Bader-Meunier, Brigitte, Crow, Yanick J.
Publicado 2016

Erratum to: Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey

por Briggs, Tracy A., Rice, Gillian I., Adib, Navid, Ades, Lesley, Barete, Stephane, Baskar, Kannan, Baudouin, Veronique, Cebeci, Ayse N., Clapuyt, Philippe, Coman, David, De Somer, Lien, Finezilber, Yael, Frydman, Moshe, Guven, Ayla, Heritier, Sébastien, Karall, Daniela, Kulkarni, Muralidhar L., Lebon, Pierre, Levitt, David, Le Merrer, Martine, Linglart, Agnes, Livingston, John H., Navarro, Vincent, Okenfuss, Ericka, Puel, Anne, Revencu, Nicole, Scholl-Bürgi, Sabine, Vivarelli, Marina, Wouters, Carine, Bader-Meunier, Brigitte, Crow, Yanick J.
Publicado 2016

Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis

por Ewans, Lisa J., Minoche, Andre E., Schofield, Deborah, Shrestha, Rupendra, Puttick, Clare, Zhu, Ying, Drew, Alexander, Gayevskiy, Velimir, Elakis, George, Walsh, Corrina, Adès, Lesley C., Colley, Alison, Ellaway, Carolyn, Evans, Carey-Anne, Freckmann, Mary-Louise, Goodwin, Linda, Hackett, Anna, Kamien, Benjamin, Kirk, Edwin P., Lipke, Michelle, Mowat, David, Palmer, Elizabeth, Rajagopalan, Sulekha, Ronan, Anne, Sachdev, Rani, Stevenson, William, Turner, Anne, Wilson, Meredith, Worgan, Lisa, Morel-Kopp, Marie-Christine, Field, Michael, Buckley, Michael F., Cowley, Mark J., Dinger, Marcel E., Roscioli, Tony
Publicado 2022

Macrocephaly and developmental delay caused by missense variants in RAB5C

por Koop, Klaas, Yuan, Weimin, Tessadori, Federico, Rodriguez-Polanco, Wilmer R, Grubbs, Jeremy, Zhang, Bo, Osmond, Matt, Graham, Gail, Sawyer, Sarah, Conboy, Erin, Vetrini, Francesco, Treat, Kayla, Płoski, Rafal, Pienkowski, Victor Murcia, Kłosowska, Anna, Fieg, Elizabeth, Krier, Joel, Mallebranche, Coralie, Alban, Ziegler, Aldinger, Kimberly A, Ritter, Deborah, Macnamara, Ellen, Sullivan, Bonnie, Herriges, John, Alaimo, Joseph T, Helbig, Catherine, Ellis, Colin A, van Eyk, Clare, Gecz, Jozef, Farrugia, Daniel, Osei-Owusu, Ikeoluwa, Adès, Lesley, van den Boogaard, Marie-Jose, Fuchs, Sabine, Bakker, Jeroen, Duran, Karen, Dawson, Zachary D, Lindsey, Anika, Huang, Huiyan, Baldridge, Dustin, Silverman, Gary A, Grant, Barth D, Raizen, David, van Haaften, Gijs, Pak, Stephen C, Rehmann, Holger, Schedl, Tim, van Hasselt, Peter
Publicado 2023

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

por Iqbal, Maria, Maroofian, Reza, Çavdarlı, Büşranur, Riccardi, Florence, Field, Michael, Banka, Siddharth, Bubshait, Dalal K., Li, Yun, Hertecant, Jozef, Baig, Shahid Mahmood, Dyment, David, Efthymiou, Stephanie, Abdullah, Uzma, Makhdoom, Ehtisham Ul Haq, Ali, Zafar, Scherf de Almeida, Tobias, Molinari, Florence, Mignon-Ravix, Cécile, Chabrol, Brigitte, Antony, Jayne, Ades, Lesley, Pagnamenta, Alistair T., Jackson, Adam, Douzgou, Sofia, Beetz, Christian, Karageorgou, Vasiliki, Vona, Barbara, Rad, Aboulfazl, Baig, Jamshaid Mahmood, Sultan, Tipu, Alvi, Javeria Raza, Maqbool, Shazia, Rahman, Fatima, Toosi, Mehran Beiraghi, Ashrafzadeh, Farah, Imannezhad, Shima, Karimiani, Ehsan Ghayoor, Sarwar, Yasra, Khan, Sheraz, Jameel, Muhammad, Noegel, Angelika A., Budde, Birgit, Altmüller, Janine, Motameny, Susanne, Höhne, Wolfgang, Houlden, Henry, Nürnberg, Peter, Wollnik, Bernd, Villard, Laurent, Alkuraya, Fowzan Sami, Osmond, Matthew, Hussain, Muhammad Sajid, Yigit, Gökhan
Publicado 2021