Post-translational formation of hypusine in eIF5A: implications in human neurodevelopment
Park, Myung Hee, Kar, Rajesh Kumar, Banka, Siddharth, Ziegler, Alban, Chung, Wendy K.
Published in Amino acids (01.04.2022)
Published in Amino acids (01.04.2022)
Get full text
Journal Article
Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine
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
Published in Nature communications (05.02.2021)
Published in Nature communications (05.02.2021)
Get full text
Journal Article
Kabuki syndrome: international consensus diagnostic criteria
Adam, Margaret P, Banka, Siddharth, Bjornsson, Hans T, Bodamer, Olaf, Chudley, Albert E, Harris, Jaqueline, Kawame, Hiroshi, Lanpher, Brendan C, Lindsley, Andrew W, Merla, Giuseppe, Miyake, Noriko, Okamoto, Nobuhiko, Stumpel, Constanze T, Niikawa, Norio
Published in Journal of medical genetics (01.02.2019)
Published in Journal of medical genetics (01.02.2019)
Get full text
Journal Article
Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia
Vaz, Frédéric M, McDermott, John H, Alders, Mariëlle, Wortmann, Saskia B, Kölker, Stefan, Pras-Raves, Mia L, Vervaart, Martin A T, van Lenthe, Henk, Luyf, Angela C M, Elfrink, Hyung L, Metcalfe, Kay, Cuvertino, Sara, Clayton, Peter E, Yarwood, Rebecca, Lowe, Martin P, Lovell, Simon, Rogers, Richard C, van Kampen, Antoine H C, Ruiter, Jos P N, Wanders, Ronald J A, Ferdinandusse, Sacha, van Weeghel, Michel, Engelen, Marc, Banka, Siddharth
Published in Brain (London, England : 1878) (01.11.2019)
Published in Brain (London, England : 1878) (01.11.2019)
Get full text
Journal Article
Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency
Beck, David B., Petracovici, Ana, He, Chongsheng, Moore, Hannah W., Louie, Raymond J., Ansar, Muhammad, Douzgou, Sofia, Sithambaram, Sivagamy, Cottrell, Trudie, Santos-Cortez, Regie Lyn P., Prijoles, Eloise J., Bend, Renee, Keren, Boris, Mignot, Cyril, Nougues, Marie-Christine, Õunap, Katrin, Reimand, Tiia, Pajusalu, Sander, Zahid, Muhammad, Saqib, Muhammad Arif Nadeem, Buratti, Julien, Seaby, Eleanor G., McWalter, Kirsty, Telegrafi, Aida, Baldridge, Dustin, Shinawi, Marwan, Leal, Suzanne M., Schaefer, G. Bradley, Stevenson, Roger E., Banka, Siddharth, Bonasio, Roberto, Fahrner, Jill A.
Published in American journal of human genetics (06.02.2020)
Published in American journal of human genetics (06.02.2020)
Get full text
Journal Article
Corneal confocal microscopy detects small-fiber neuropathy in Charcot-Marie-Tooth disease type 1A patients
Tavakoli, Mitra, Marshall, Andy, Banka, Siddharth, Petropoulos, Ioannis N., Fadavi, Hassan, Kingston, Helen, Malik, Rayaz A.
Published in Muscle & nerve (01.11.2012)
Published in Muscle & nerve (01.11.2012)
Get full text
Journal Article
A basement membrane discovery pipeline uncovers network complexity, regulators, and human disease associations
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
Published in Science advances (20.05.2022)
Published in Science advances (20.05.2022)
Get full text
Journal Article
Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2
Faundes, Víctor, Goh, Stephanie, Akilapa, Rhoda, Bezuidenhout, Heidre, Bjornsson, Hans T., Bradley, Lisa, Brady, Angela F., Brischoux-Boucher, Elise, Brunner, Han, Bulk, Saskia, Canham, Natalie, Cody, Declan, Dentici, Maria Lisa, Digilio, Maria Cristina, Elmslie, Frances, Fry, Andrew E., Gill, Harinder, Hurst, Jane, Johnson, Diana, Julia, Sophie, Lachlan, Katherine, Lebel, Robert Roger, Byler, Melissa, Gershon, Eric, Lemire, Edmond, Gnazzo, Maria, Lepri, Francesca Romana, Marchese, Antonia, McEntagart, Meriel, McGaughran, Julie, Mizuno, Seiji, Okamoto, Nobuhiko, Rieubland, Claudine, Rodgers, Jonathan, Sasaki, Erina, Scalais, Emmanuel, Scurr, Ingrid, Suri, Mohnish, van der Burgt, Ineke, Matsumoto, Naomichi, Miyake, Noriko, Benoit, Valérie, Lederer, Damien, Banka, Siddharth
Published in Genetics in medicine (01.07.2021)
Published in Genetics in medicine (01.07.2021)
Get full text
Journal Article
Web Resource
The clinical presentation caused by truncating CHD8 variants
Douzgou, Sofia, Liang, Hui Wen, Metcalfe, Kay, Somarathi, Suresh, Tischkowitz, Marc, Mohamed, Wafik, Kini, Usha, McKee, Shane, Yates, Laura, Bertoli, Marta, Lynch, Sally Ann, Holder, Susan, Banka, Siddharth
Published in Clinical genetics (01.07.2019)
Published in Clinical genetics (01.07.2019)
Get full text
Journal Article
The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations
Rodríguez Cruz, Pedro M, Cossins, Judith, Estephan, Eduardo de Paula, Munell, Francina, Selby, Kathryn, Hirano, Michio, Maroofin, Reza, Mehrjardi, Mohammad Yahya Vahidi, Chow, Gabriel, Carr, Aisling, Manzur, Adnan, Robb, Stephanie, Munot, Pinki, Wei Liu, Wei, Banka, Siddharth, Fraser, Harry, De Goede, Christian, Zanoteli, Edmar, Conti Reed, Umbertina, Sage, Abigail, Gratacos, Margarida, Macaya, Alfons, Dusl, Marina, Senderek, Jan, Töpf, Ana, Hofer, Monika, Knight, Ravi, Ramdas, Sithara, Jayawant, Sandeep, Lochmüller, Hans, Palace, Jacqueline, Beeson, David
Published in Brain (London, England : 1878) (01.06.2019)
Published in Brain (London, England : 1878) (01.06.2019)
Get full text
Journal Article
ERBB4 exonic deletions on chromosome 2q34 in patients with intellectual disability or epilepsy
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
Published in European journal of human genetics : EJHG (01.09.2021)
Published in European journal of human genetics : EJHG (01.09.2021)
Get full text
Journal Article
Genotype–phenotype specificity in Menke–Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBP
Banka, Siddharth, Sayer, Rebecca, Breen, Catherine, Barton, Stephanie, Pavaine, Julija, Sheppard, Sarah E., Bedoukian, Emma, Skraban, Cara, Cuddapah, Vishnu A, Clayton‐Smith, Jill
Published in American journal of medical genetics. Part A (01.06.2019)
Published in American journal of medical genetics. Part A (01.06.2019)
Get full text
Journal Article
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype
Tatton-Brown, Katrina, Murray, Anne, Hanks, Sandra, Douglas, Jenny, Armstrong, Ruth, Banka, Siddharth, Bird, Lynne M., Clericuzio, Carol L., Cormier-Daire, Valerie, Cushing, Tom, Flinter, Frances, Jacquemont, Marie-Line, Joss, Shelagh, Kinning, Esther, Lynch, Sally Ann, Magee, Alex, McConnell, Vivienne, Medeira, Ana, Ozono, Keiichi, Patton, Michael, Rankin, Julia, Shears, Debbie, Simon, Marleen, Splitt, Miranda, Strenger, Volker, Stuurman, Kyra, Taylor, Clare, Titheradge, Hannah, Van Maldergem, Lionel, Temple, I. Karen, Cole, Trevor, Seal, Sheila, Rahman, Nazneen
Published in American journal of medical genetics. Part A (01.12.2013)
Published in American journal of medical genetics. Part A (01.12.2013)
Get full text
Journal Article
Monogenic disorders as mimics of juvenile idiopathic arthritis
Furness, Laura, Riley, Phil, Wright, Neville, Banka, Siddharth, Eyre, Stephen, Jackson, Adam, Briggs, Tracy A
Published in Pediatric Rheumatology (18.06.2022)
Published in Pediatric Rheumatology (18.06.2022)
Get full text
Journal Article
A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct fromKabuki syndrome
Cuvertino Sara, Hartill Verity, Colyer, Alice, Garner, Terence, Nair, Nisha, Al-Gazali Lihadh, Canham, Natalie, Faundes Victor, Flinter Frances, Hertecant Jozef, Holder-Espinasse Muriel, Jackson, Brian, Lynch, Sally Ann, Nadat Fatima, Narasimhan, Vagheesh M, Peckham, Michelle, Sellers, Robert, Seri, Marco, Montanari, Francesca, Southgate, Laura, Squeo, Gabriella Maria, Trembath, Richard, van Heel David, Venuto Santina, Weisberg, Daniel, Stals, Karen, Ellard Sian, Barton, Anne, Kimber, Susan J, Sheridan, Eamonn, Merla Giuseppe, Stevens, Adam, Johnson, Colin A, Banka Siddharth
Published in Genetics in medicine (01.05.2020)
Published in Genetics in medicine (01.05.2020)
Get full text
Journal Article
Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height
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, Karen I, Cole, Trevor, Douglas, Jenny, Rahman, Nazneen
Published in Oncotarget (01.12.2011)
Published in Oncotarget (01.12.2011)
Get full text
Journal Article
Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3
BANKA, Siddharth, CHERVINSKY, Elena, NEWMAN, William G, CROW, Yanick J, YEGANEH, Shay, YACOBOVICH, Joanne, DONNAI, Dian, SHALEV, Stavit
Published in European journal of human genetics : EJHG (01.01.2011)
Published in European journal of human genetics : EJHG (01.01.2011)
Get full text
Journal Article
Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: A treatable neurological disorder caused by TPK1 mutations
Banka, Siddharth, de Goede, Christian, Yue, Wyatt W., Morris, Andrew A.M., von Bremen, Beate, Chandler, Kate E., Feichtinger, René G., Hart, Claire, Khan, Nasaim, Lunzer, Verena, Mataković, Lavinija, Marquardt, Thorsten, Makowski, Christine, Prokisch, Holger, Debus, Otfried, Nosaka, Kazuto, Sonwalkar, Hemant, Zimmermann, Franz A., Sperl, Wolfgang, Mayr, Johannes A.
Published in Molecular genetics and metabolism (01.12.2014)
Published in Molecular genetics and metabolism (01.12.2014)
Get full text
Journal Article