Works by Banka, Siddharth

Results: 49
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    Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity.

    Published in:
    Ophthalmic Genetics, 2022, v. 43, n. 6, p. 809, doi. 10.1080/13816810.2022.2144905
    By:
    • Holt, Richard;
    • Goudie, David;
    • Verde, Alejandra Damián;
    • Gardham, Alice;
    • Ramond, Francis;
    • Putoux, Audrey;
    • Sarkar, Ajoy;
    • Clowes, Virginia;
    • Clayton-Smith, Jill;
    • Banka, Siddharth;
    • Cortazar Galarza, Laura;
    • Thuret, Gilles;
    • Ubeda Erviti, Marta;
    • Zurutuza Ibarguren, Ane;
    • Sáez Villaverde, Raquel;
    • Tamayo Durán, Alejandra;
    • Ayuso, Carmen;
    • Bax, Dorine A;
    • Plaisancie, Julie;
    • Corton, Marta
    Publication type:
    Article
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    Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.

    Published in:
    Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00900-3
    By:
    • Mannucci, Ilaria;
    • Dang, Nghi D. P.;
    • Huber, Hannes;
    • Murry, Jaclyn B.;
    • Abramson, Jeff;
    • Althoff, Thorsten;
    • Banka, Siddharth;
    • Baynam, Gareth;
    • Bearden, David;
    • Beleza-Meireles, Ana;
    • Benke, Paul J.;
    • Berland, Siren;
    • Bierhals, Tatjana;
    • Bilan, Frederic;
    • Bindoff, Laurence A.;
    • Braathen, Geir Julius;
    • Busk, Øyvind L.;
    • Chenbhanich, Jirat;
    • Denecke, Jonas;
    • Escobar, Luis F.
    Publication type:
    Article
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    Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.

    Published in:
    Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00900-3
    By:
    • Mannucci, Ilaria;
    • Dang, Nghi D. P.;
    • Huber, Hannes;
    • Murry, Jaclyn B.;
    • Abramson, Jeff;
    • Althoff, Thorsten;
    • Banka, Siddharth;
    • Baynam, Gareth;
    • Bearden, David;
    • Beleza-Meireles, Ana;
    • Benke, Paul J.;
    • Berland, Siren;
    • Bierhals, Tatjana;
    • Bilan, Frederic;
    • Bindoff, Laurence A.;
    • Braathen, Geir Julius;
    • Busk, Øyvind L.;
    • Chenbhanich, Jirat;
    • Denecke, Jonas;
    • Escobar, Luis F.
    Publication type:
    Article
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    Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects.

    Published in:
    Clinical Genetics, 2022, v. 101, n. 1, p. 127, doi. 10.1111/cge.14071
    By:
    • Pagnamenta, Alistair T.;
    • Jackson, Adam;
    • Perveen, Rahat;
    • Beaman, Glenda;
    • Petts, Gemma;
    • Gupta, Asheeta;
    • Hyder, Zerin;
    • Chung, Brian Hon‐Yin;
    • Kan, Anita Sik‐Yau;
    • Cheung, Ka Wang;
    • Kerstjens‐Frederikse, Wilhelmina S.;
    • Abbott, Kristin M.;
    • Elpeleg, Orly;
    • Taylor, Jenny C.;
    • Banka, Siddharth;
    • Ta‐Shma, Asaf
    Publication type:
    Article
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    The clinical presentation caused by truncating CHD8 variants.

    Published in:
    Clinical Genetics, 2019, v. 96, n. 1, p. 72, doi. 10.1111/cge.13554
    By:
    • 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
    Publication type:
    Article
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    Refining the clinical phenotype associated with missense variants in exons 38 and 39 of KMT2D.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1600, doi. 10.1002/ajmg.a.62642
    By:
    • Tharreau, Mylène;
    • Garde, Aurore;
    • Marlin, Sandrine;
    • Morel, Godelieve;
    • Ernest, Sylvain;
    • Nambot, Sophie;
    • Duffourd, Yannis;
    • Ternoy, Ninon;
    • Duvillard, Christian;
    • Banka, Siddharth;
    • Philippe, Christophe;
    • Thauvin‐Robinet, Christel;
    • Mau‐Them, Frederic Tran;
    • Faivre, Laurence
    Publication type:
    Article
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    HIST1H1E heterozygous protein‐truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals.

    Published in:
    American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 2049, doi. 10.1002/ajmg.a.61321
    By:
    • Burkardt, Deepika D'Cunha;
    • Zachariou, Anna;
    • Loveday, Chey;
    • Allen, Clare L.;
    • Amor, David J.;
    • Ardissone, Anna;
    • Banka, Siddharth;
    • Bourgois, Alexia;
    • Coubes, Christine;
    • Cytrynbaum, Cheryl;
    • Faivre, Laurence;
    • Marion, Gerard;
    • Horton, Rachel;
    • Kotzot, Dieter;
    • Lay‐Son, Guillermo;
    • Lees, Melissa;
    • Low, Karen;
    • Luk, Ho‐Ming;
    • Mark, Paul;
    • McConkie‐Rosell, Allyn
    Publication type:
    Article
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    Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 2972, doi. 10.1002/ajmg.a.36229
    By:
    • 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
    Publication type:
    Article
    20

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

    Published in:
    Brain: A Journal of Neurology, 2022, v. 145, n. 12, p. 4232, doi. 10.1093/brain/awac049
    By:
    • 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
    Publication type:
    Article
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    The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations.

    Published in:
    2019
    By:
    • Cruz, Pedro M. Rodríguez;
    • 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;
    • Liu, Wei Wei;
    • Banka, Siddharth;
    • Fraser, Harry;
    • Goede, Christian De;
    • Zanoteli, Edmar;
    • Reed, Umbertina Conti;
    • Sage, Abigail
    Publication type:
    journal article
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    Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors.

    Published in:
    2017
    By:
    • Ortigoza‐Escobar, Juan Darío;
    • Alfadhel, Majid;
    • Molero‐Luis, Marta;
    • Darin, Niklas;
    • Spiegel, Ronen;
    • de Coo, Irenaeus F.;
    • Gerards, Mike;
    • Taylor, Robert W.;
    • Artuch, Rafael;
    • Nashabat, Marwan;
    • Rodríguez‐Pombo, Pilar;
    • Tabarki, Brahim;
    • Pérez‐Dueñas, Belén;
    • Distelmaier, Felix;
    • Hahn, Andreas;
    • Morava, Eva;
    • Banka, Siddharth;
    • Debs, Rabab;
    • Fraser, Jamie L.;
    • Isohanni, Pirjo
    Publication type:
    journal article
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    Further delineation of the KAT6B molecular and phenotypic spectrum.

    Published in:
    European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1165, doi. 10.1038/ejhg.2014.248
    By:
    • Gannon, Tamsin;
    • Perveen, Rahat;
    • Schlecht, Hélene;
    • Ramsden, Simon;
    • Anderson, Beverley;
    • Kerr, Bronwyn;
    • Day, Ruth;
    • Banka, Siddharth;
    • Suri, Mohnish;
    • Berland, Siren;
    • Gabbett, Michael;
    • Ma, Alan;
    • Lyonnet, Stan;
    • Cormier-Daire, Valerie;
    • Yilmaz, Rüstem;
    • Borck, Guntram;
    • Wieczorek, Dagmar;
    • Anderlid, Britt-Marie;
    • Smithson, Sarah;
    • Vogt, Julie
    Publication type:
    Article
    30

    How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum.

    Published in:
    European Journal of Human Genetics, 2012, v. 20, n. 4, p. 381, doi. 10.1038/ejhg.2011.220
    By:
    • Banka, Siddharth;
    • Veeramachaneni, Ratna;
    • Reardon, William;
    • Howard, Emma;
    • Bunstone, Sancha;
    • Ragge, Nicola;
    • Parker, Michael J;
    • Crow, Yanick J;
    • Kerr, Bronwyn;
    • Kingston, Helen;
    • Metcalfe, Kay;
    • Chandler, Kate;
    • Magee, Alex;
    • Stewart, Fiona;
    • McConnell, Vivienne P M;
    • Donnelly, Deirdre E;
    • Berland, Siren;
    • Houge, Gunnar;
    • Morton, Jenny E;
    • Oley, Christine
    Publication type:
    Article
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    RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome.

    Published in:
    Journal of Clinical Investigation, 2015, v. 125, n. 9, p. 3585, doi. 10.1172/JCI80102
    By:
    • Bögershausen, Nina;
    • I.-Chun Tsai;
    • Pohl, Esther;
    • SimsekKiper, Pelin Özlem;
    • Beleggia, Filippo;
    • Percin, E. Ferda;
    • Keupp, Katharina;
    • Matchan, Angela;
    • Milz, Esther;
    • Alanay, Yasemin;
    • Kayserili, Hülya;
    • Yicheng Liu;
    • Banka, Siddharth;
    • Kranz, Andrea;
    • Zenker, Martin;
    • Wieczorek, Dagmar;
    • Elcioglu, Nursel;
    • Prontera, Paolo;
    • Lyonnet, Stanislas;
    • Meitinger, Thomas
    Publication type:
    Article
    34

    Trisomy 18 mosaicism: report of two cases.

    Published in:
    World Journal of Pediatrics, 2013, v. 9, n. 2, p. 179, doi. 10.1007/s12519-011-0280-x
    By:
    • Banka, Siddharth;
    • Metcalfe, Kay;
    • Clayton-Smith, Jill
    Publication type:
    Article
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    The diagnostic utility of clinical exome sequencing in 60 patients with hearing loss disorders: A single‐institution experience.

    Published in:
    Clinical Otolaryngology, 2021, v. 46, n. 6, p. 1257, doi. 10.1111/coa.13826
    By:
    • Molina‐Ramírez, Leslie P.;
    • Burkitt‐Wright, Emma MM.;
    • Saeed, Haroon;
    • McDermott, John H.;
    • Kyle, Claire;
    • Wright, Ronnie;
    • Campbell, Christopher;
    • Bhaskar, Sanjeev S.;
    • Taylor, Algy;
    • Dutton, Laura;
    • Forde, Claire;
    • Metcalfe, Kay;
    • Smith, Audrey;
    • Clayton‐Smith, Jill;
    • Douzgou, Sofia;
    • Chandler, Kate;
    • Briggs, Tracy A.;
    • Banka, Siddharth;
    • Newman, William G.;
    • Gokhale, David
    Publication type:
    Article
    37

    Locus conversions are rare in the LRFN5 locus.

    Published in:
    Autism Research: Official Journal of the International Society for Autism Research, 2023, v. 16, n. 6, p. 1084, doi. 10.1002/aur.2963
    By:
    • Sampson, Jacob;
    • Houge, Gunnar;
    • Banka, Siddharth
    Publication type:
    Article
    38

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

    Published in:
    Frontiers in Molecular Neuroscience, 2020, v. 13, p. 1, doi. 10.3389/fnmol.2020.00012
    By:
    • 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.
    Publication type:
    Article
    39

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

    Published in:
    2020
    By:
    • 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
    Publication type:
    journal article
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    De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis.

    Published in:
    Human Genetics, 2023, v. 142, n. 1, p. 21, doi. 10.1007/s00439-022-02477-2
    By:
    • Timberlake, Andrew T.;
    • Kiziltug, Emre;
    • Jin, Sheng Chih;
    • Nelson-Williams, Carol;
    • Loring, Erin;
    • Allocco, August;
    • Marlier, Arnaud;
    • Banka, Siddharth;
    • Stuart, Helen;
    • Passos-Buenos, Maria Rita;
    • Rosa, Rafael;
    • Rogatto, Silvia R.;
    • Tonne, Elin;
    • Stiegler, Amy L.;
    • Boggon, Titus J.;
    • Alperovich, Michael;
    • Steinbacher, Derek;
    • Staffenberg, David A.;
    • Flores, Roberto L.;
    • Persing, John A.
    Publication type:
    Article
    48

    Biallelic TUFT1 variants cause woolly hair, superficial skin fragility and desmosomal defects.

    Published in:
    British Journal of Dermatology, 2023, v. 188, n. 1, p. 75, doi. 10.1093/bjd/ljac026
    By:
    • Jackson, Adam;
    • Moss, Celia;
    • Chandler, Kate E;
    • Balboa, Pablo Lopez;
    • Bageta, Maria L;
    • Petrof, Gabriela;
    • Martinez, Anna E;
    • Liu, Lu;
    • Guy, Alyson;
    • Mellerio, Jemima E;
    • Lee, John Y W;
    • Ogboli, Malobi;
    • Ryan, Gavin;
    • Consortium, Genomics England Research;
    • McGrath, John A;
    • Banka, Siddharth
    Publication type:
    Article
    49

    Germline intergenic duplications at Xq26.1 underlie Bazex–Dupré–Christol basal cell carcinoma susceptibility syndrome*.

    Published in:
    British Journal of Dermatology, 2022, v. 187, n. 6, p. 948, doi. 10.1111/bjd.21842
    By:
    • Liu, Yanshan;
    • Banka, Siddharth;
    • Huang, Yingzhi;
    • Hardman‐Smart, Jonathan;
    • Pye, Derek;
    • Torrelo, Antonio;
    • Beaman, Glenda M.;
    • Kazanietz, Marcelo G.;
    • Baker, Martin J.;
    • Ferrazzano, Carlo;
    • Shi, Chenfu;
    • Orozco, Gisela;
    • Eyre, Stephen;
    • van Geel, Michel;
    • Bygum, Anette;
    • Fischer, Judith;
    • Miedzybrodzka, Zosia;
    • Abuzahra, Faris;
    • Rübben, Albert;
    • Cuvertino, Sara
    Publication type:
    Article