A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations

por Banka, Siddharth, Newman, William G
Publicado 2013

Profound vitamin D deficiency in four siblings with Imerslund‐Grasbeck syndrome with homozygous CUBN mutation

por Ciancio, Jose I. R., Furman, Mark, Banka, Siddharth, Grunewald, Stephanie
Publicado 2019

Growth hormone deficiency as a cause for short stature in Wiedemann–Steiner Syndrome

por Stoyle, George, Banka, Siddharth, Langley, Claire, Jones, Elizabeth A, Banerjee, Indraneel
Publicado 2018

Reply: Expanding the clinical and genetic spectrum of PCYT2-related disorders

por Vaz, Frédéric M, McDermott, John H, Engelen, Marc, Banka, Siddharth
Publicado 2020

Post-translational formation of hypusine in eIF5A: implications in human neurodevelopment

por Park, Myung Hee, Kar, Rajesh Kumar, Banka, Siddharth, Ziegler, Alban, Chung, Wendy K.
Publicado 2021

Monogenic disorders as mimics of juvenile idiopathic arthritis

por Furness, Laura, Riley, Phil, Wright, Neville, Banka, Siddharth, Eyre, Stephen, Jackson, Adam, Briggs, Tracy A.
Publicado 2022

SAT292 Adrenal Insufficiency Associated With Biallelic Mutations In Porphyria Genes

por Smith, Chris, Jackson, Adam, Al-Salihi, Ahmed, Janecke, Andreas, Steichen, Elisabeth, Darby, Denise, Griffin, Liezel, Banka, Siddharth, Elsayed, Solaf, Chan, Li, Metherell, Louise
Publicado 2023

Array comparative genomic hybridisation-based identification of two imbalances of chromosome 1p in a 9-year-old girl with a monosomy 1p36 related phenotype and a family history of...

por Fitzgibbon, Gregory J, Clayton-Smith, Jill, Banka, Siddharth, Hamilton, Susan J, Needham, Margaret M, Dore, Jonathan K, Miller, Jake T, Pawson, Gareth D, Gaunt, Lorraine
Publicado 2008

Anticipatory banking of samples enables diagnosis of adenylosuccinase deficiency following molecular autopsy in an infant with vacuolating leukoencephalopathy

por Sitaram, Spatikha, Banka, Hetalika C., Vassallo, Grace, Pavaine, Julija, Fairclough, Adele, Wright, Ronnie, Fairbanks, Lynette, Bierau, Jörgen, Bowden, Lydia, Schwahn, Bernd, Horman, Alistair, Banka, Siddharth
Publicado 2022

Success and Pitfalls of Genetic Testing in Undiagnosed Diseases: Whole Exome Sequencing and Beyond

por Barili, Valeria, Ambrosini, Enrico, Uliana, Vera, Bellini, Melissa, Vitetta, Giulia, Martorana, Davide, Cannizzaro, Ilenia Rita, Taiani, Antonietta, De Sensi, Erika, Caggiati, Patrizia, Hilton, Sarah, Banka, Siddharth, Percesepe, Antonio
Publicado 2023

ERBB4 exonic deletions on chromosome 2q34 in patients with intellectual disability or epilepsy

por Hyder, Zerin, Van Paesschen, Wim, Sabir, Ataf, Sansbury, Francis H., Burke, Katherine B., Khan, Naz, Chandler, Kate E., Cooper, Nicola S., Wright, Ronnie, McHale, Edward, Van Esch, Hilde, Banka, Siddharth
Publicado 2021

Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly

por Schnabel, Franziska, Schuler, Elisabeth, Al-Maawali, Almundher, Chaurasia, Ankur, Syrbe, Steffen, Al-Kindi, Adila, Bhavani, Gandham SriLakshmi, Shukla, Anju, Altmüller, Janine, Nürnberg, Peter, Banka, Siddharth, Girisha, Katta M., Li, Yun, Wollnik, Bernd, Yigit, Gökhan
Publicado 2023

A basement membrane discovery pipeline uncovers network complexity, regulators, and human disease associations

por Jayadev, Ranjay, Morais, Mychel R. P. T., Ellingford, Jamie M., Srinivasan, Sandhya, Naylor, Richard W., Lawless, Craig, Li, Anna S., Ingham, Jack F., Hastie, Eric, Chi, Qiuyi, Fresquet, Maryline, Koudis, Nikki-Maria, Thomas, Huw B., O’Keefe, Raymond T., Williams, Emily, Adamson, Antony, Stuart, Helen M., Banka, Siddharth, Smedley, Damian, Sherwood, David R., Lennon, Rachel
Publicado 2022

Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease

por Martin-Geary, Alexandra C, Blakes, Alexander J M, Dawes, Ruebena, Findlay, Scott D, Lord, Jenny, Walker, Susan, Talbot-Martin, Jonathan, Wieder, Nechama, D’Souza, Elston N, Fernandes, Maria, Hilton, Sarah, Lahiri, Nayana, Campbell, Christopher, Jenkinson, Sarah, DeGoede, Christian G E L, Anderson, Emily R, Burge, Christopher B., Sanders, Stephan J, Ellingford, Jamie, Baralle, Diana, Banka, Siddharth, Whiffin, Nicola
Publicado 2023

Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders

por Smith, Michael, Alexander, Elizabeth, Marcinkute, Ruta, Dan, Dorica, Rawson, Myfanwy, Banka, Siddharth, Gavin, Jason, Mina, Hany, Hennessy, Con, Riccardi, Florence, Radio, Francesca Clementina, Havlovicova, Marketa, Cassina, Matteo, Emandi, Adela Chirita, Fradin, Melanie, Gompertz, Lianne, Nordgren, Ann, Traberg, Rasa, Rossi, Massimiliano, Trimouille, Aurelién, Sowmyalakshmi, Rasika, Dallapiccola, Bruno, Renieri, Alessandra, Faivre, Laurence, Kerr, Bronwyn, Verloes, Alain, Clayton-Smith, Jill, Douzgou, Sofia
Publicado 2020

Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height

por Tatton-Brown, Katrina, Hanks, Sandra, Ruark, Elise, Zachariou, Anna, Duarte, Silvana Del Vecchio, Ramsay, Emma, Snape, Katie, Murray, Anne, Perdeaux, Elizabeth R, Seal, Sheila, Loveday, Chey, Banka, Siddharth, Clericuzio, Carol, Flinter, Frances, Magee, Alex, McConnell, Vivienne, Patton, Michael, Raith, Wolfgang, Rankin, Julia, Splitt, Miranda, Strenger, Volker, Taylor, Clare, Wheeler, Patricia, Temple, I Karen, Cole, Trevor, Douglas, Jenny, Rahman, Nazneen
Publicado 2011

Correction: Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height

por Tatton-Brown, Katrina, Hanks, Sandra, Ruark, Elise, Zachariou, Anna, Del Vecchio Duarte, Silvana, Ramsay, Emma, Snape, Katie, Murray, Anne, Perdeaux, Elizabeth R, Seal, Sheila, Loveday, Chey, Banka, Siddharth, Clericuzio, Carol, Flinter, Frances, Magee, Alex, McConnell, Vivienne, Patton, Michael, Raith, Wolfgang, Rankin, Julia, Splitt, Miranda, Strenger, Volker, Taylor, Clare, Wheeler, Patricia, Temple, I Karen, Cole, Trevor, Douglas, Jenny, Rahman, Nazneen
Publicado 2018

Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor

por Kumar, Raman, Palmer, Elizabeth, Gardner, Alison E., Carroll, Renee, Banka, Siddharth, Abdelhadi, Ola, Donnai, Dian, Elgersma, Ype, Curry, Cynthia J., Gardham, Alice, Suri, Mohnish, Malla, Rishikesh, Brady, Lauren Ilana, Tarnopolsky, Mark, Azmanov, Dimitar N., Atkinson, Vanessa, Black, Michael, Baynam, Gareth, Dreyer, Lauren, Hayeems, Robin Z., Marshall, Christian R., Costain, Gregory, Wessels, Marja W., Baptista, Julia, Drummond, James, Leffler, Melanie, Field, Michael, Gecz, Jozef
Publicado 2020

Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine

por Faundes, Víctor, Jennings, Martin D., Crilly, Siobhan, Legraie, Sarah, Withers, Sarah E., Cuvertino, Sara, Davies, Sally J., Douglas, Andrew G. L., Fry, Andrew E., Harrison, Victoria, Amiel, Jeanne, Lehalle, Daphné, Newman, William G., Newkirk, Patricia, Ranells, Judith, Splitt, Miranda, Cross, Laura A., Saunders, Carol J., Sullivan, Bonnie R., Granadillo, Jorge L., Gordon, Christopher T., Kasher, Paul R., Pavitt, Graham D., Banka, Siddharth
Publicado 2021

Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology

por Banka, Siddharth, Bennington, Abigail, Baker, Martin J, Rijckmans, Ellen, Clemente, Giuliana D, Ansor, Nurhuda Mohamad, Sito, Hilary, Prasad, Pritha, Anyane-Yeboa, Kwame, Badalato, Lauren, Dimitrov, Boyan, Fitzpatrick, David, Hurst, Anna C E, Jansen, Anna C, Kelly, Melissa A, Krantz, Ian, Rieubland, Claudine, Ross, Meredith, Rudy, Natasha L, Sanz, Javier, Stouffs, Katrien, Xu, Zhuo Luan, Malliri, Angeliki, Kazanietz, Marcelo G, Millard, Tom H
Publicado 2022