Compound heterozygous CASQ2 mutations and long‐term course of catecholaminergic polymorphic ventricular tachycardia

por Josephs, Katherine, Patel, Kunjan, Janson, Christopher M., Montagna, Cristina, McDonald, Thomas V.
Publicado 2017

p.Val804Met, the Most Frequent Pathogenic Mutation in RET, Confers a Very Low Lifetime Risk of Medullary Thyroid Cancer

por Loveday, Chey, Josephs, Katherine, Chubb, Daniel, Gunning, Adam, Izatt, Louise, Tischkowitz, Marc, Ellard, Sian, Turnbull, Clare
Publicado 2018

Non-catalytic Roles of Tet2 Are Essential to Regulate Hematopoietic Stem and Progenitor Cell Homeostasis

por Ito, Kyoko, Lee, Joun, Chrysanthou, Stephanie, Zhao, Yilin, Josephs, Katherine, Sato, Hiroyo, Teruya-Feldstein, Julie, Zheng, Deyou, Dawlaty, Meelad M., Ito, Keisuke
Publicado 2019

Redefining WILD syndrome: a primary lymphatic dysplasia with congenital multisegmental lymphoedema, cutaneous lymphovascular malformation, CD4 lymphopaenia and warts

por Mansour, Sahar, Josephs, Katherine S, Ostergaard, Pia, Gordon, Kristiana, Van Zanten, Malou, Pearce, Julian, Jeffery, Steve, Keeley, Vaughan, Riches, Katie, Kreuter, Alexander, Wieland, Ulrike, Hägerling, René, Ratnam, Lakshmi, Sackey, Ege, Grigoriadis, Dionysios, Ho, Bernard, Smith, Frances, Rauter, Elisabeth, Mortimer, Peter, Macallan, Derek
Publicado 2023

Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease m...

por Roberts, Angharad M, DiStefano, Marina T., Riggs, Erin Rooney, Josephs, Katherine S, Alkuraya, Fowzan S, Amberger, Joanna, Amin, Mutaz, Berg, Jonathan S., Cunningham, Fiona, Eilbeck, Karen, Firth, Helen V., Foreman, Julia, Hamosh, Ada, Hay, Eleanor, Leigh, Sarah, Martin, Christa L., McDonagh, Ellen M., Perrett, Daniel, Ramos, Erin M., Robinson, Peter N., Rath, Ana, van Sant, David, Stark, Zornitza, Whiffin, Nicola, Rehm, Heidi L., Ware, James S.
Publicado 2023

Correction: Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes

por Martin-Almedina, Silvia, Ogmen, Kazim, Sackey, Ege, Grigoriadis, Dionysios, Karapouliou, Christina, Nadarajah, Noeline, Ebbing, Cathrine, Lord, Jenny, Mellis, Rhiannon, Kortuem, Fanny, Dinulos, Mary Beth, Polun, Cassandra, Bale, Sherri, Atton, Giles, Robinson, Alexandra, Reigstad, Hallvard, Houge, Gunnar, von der Wense, Axel, Becker, Wolf-Henning, Jeffery, Steve, Mortimer, Peter S., Gordon, Kristiana, Josephs, Katherine S., Robart, Sarah, Kilby, Mark D., Vallee, Stephanie, Gorski, Jerome L., Hempel, Maja, Berland, Siren, Mansour, Sahar, Ostergaard, Pia
Publicado 2021

Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes

por Martin-Almedina, Silvia, Ogmen, Kazim, Sackey, Ege, Grigoriadis, Dionysios, Karapouliou, Christina, Nadarajah, Noeline, Ebbing, Cathrine, Lord, Jenny, Mellis, Rhiannon, Kortuem, Fanny, Dinulos, Mary Beth, Polun, Cassandra, Bale, Sherri, Atton, Giles, Robinson, Alexandra, Reigstad, Hallvard, Houge, Gunnar, von der Wense, Axel, Becker, Wolf-Henning, Jeffery, Steve, Mortimer, Peter S., Gordon, Kristiana, Josephs, Katherine S., Robart, Sarah, Kilby, Mark D., Vallee, Stephanie, Gorski, Jerome L., Hempel, Maja, Berland, Siren, Mansour, Sahar, Ostergaard, Pia
Publicado 2021

Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac condition...

por Josephs, Katherine S, Roberts, Angharad M, Theotokis, Pantazis, Walsh, Roddy, Ostrowski, Philip J, Edwards, Matthew, Fleming, Andrew, Thaxton, Courtney, Roberts, Jason D, Care, Melanie, Zareba, Wojciech, Adler, Arnon, Sturm, Amy C, Tadros, Rafik, Novelli, Valeria, Owens, Emma, Bronicki, Lucas, Jarinova, Olga, Callewaert, Bert, Peters, Stacey, Lumbers, Tom, Jordan, Elizabeth, Asatryan, Babken, Krishnan, Neesha, Hershberger, Ray E, Chahal, C. Anwar A., Landstrom, Andrew P., James, Cynthia, McNally, Elizabeth M, Judge, Daniel P, van Tintelen, Peter, Wilde, Arthur, Gollob, Michael, Ingles, Jodie, Ware, James S
Publicado 2023

Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac condition...

por Josephs, Katherine S., Roberts, Angharad M., Theotokis, Pantazis, Walsh, Roddy, Ostrowski, Philip J., Edwards, Matthew, Fleming, Andrew, Thaxton, Courtney, Roberts, Jason D., Care, Melanie, Zareba, Wojciech, Adler, Arnon, Sturm, Amy C., Tadros, Rafik, Novelli, Valeria, Owens, Emma, Bronicki, Lucas, Jarinova, Olga, Callewaert, Bert, Peters, Stacey, Lumbers, Tom, Jordan, Elizabeth, Asatryan, Babken, Krishnan, Neesha, Hershberger, Ray E., Chahal, C. Anwar A., Landstrom, Andrew P., James, Cynthia, McNally, Elizabeth M., Judge, Daniel P., van Tintelen, Peter, Wilde, Arthur, Gollob, Michael, Ingles, Jodie, Ware, James S.
Publicado 2023