Siddharth Banka

Scopus Author ID Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2014-2024
Publications (10 Years): 41

Top Venues

American journal of medical genetics. Part A

Science advances

European journal of human genetics : EJHG

Nature metabolism

This page only lists publications with an associated author ORCID identifier.

Publications

George Joseph Burghel, Jamie M Ellingford, Ronnie Wright, Lauren Bradford, Jake Miller, Christopher Watt, Jonathan Edgerley, Farah Naeem, Siddharth Banka
Systematic reanalysis of copy number losses of uncertain clinical significance. Journal of medical genetics 61 (7) (2024)
German Demidov, Steven Laurie, Annalaura Torella, Giulio Piluso, Marcello Scala, Manuela Morleo, Vincenzo Nigro, Holm Graessner, Siddharth Banka, null null, Katja Lohmann, Stephan Ossowski
Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes. European journal of human genetics : EJHG 32 (8) (2024)
Andrew H Crosby, Richard H Scott, Siddharth Banka, James Buchanan, Louise Fish, Sarah L Wynn, Dominic J C Wilkinson, Sian Ellard, Daniel G MacArthur, Zornitza Stark
Exploring the benefits, harms and costs of genomic newborn screening for rare diseases. Nature medicine (2024)
German Demidov, Steven Laurie, Annalaura Torella, Giulio Piluso, Marcello Scala, Manuela Morleo, Vincenzo Nigro, Holm Graessner, Siddharth Banka, null null, Katja Lohmann, Stephan Ossowski
Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes. European journal of human genetics : EJHG 32 (8) (2024)
Andrew H Crosby, Richard H Scott, Siddharth Banka, James Buchanan, Louise Fish, Sarah L Wynn, Dominic J C Wilkinson, Sian Ellard, Daniel G MacArthur, Zornitza Stark
Exploring the benefits, harms and costs of genomic newborn screening for rare diseases. Nature medicine 30 (7) (2024)
George Joseph Burghel, Jamie M Ellingford, Ronnie Wright, Lauren Bradford, Jake Miller, Christopher Watt, Jonathan Edgerley, Farah Naeem, Siddharth Banka
Systematic reanalysis of copy number losses of uncertain clinical significance. Journal of medical genetics 61 (7) (2024)
German Demidov, Steven Laurie, Annalaura Torella, Giulio Piluso, Marcello Scala, Manuela Morleo, Vincenzo Nigro, Holm Graessner, Siddharth Banka, null null, Katja Lohmann, Stephan Ossowski
Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes. European journal of human genetics : EJHG (2024)
George Joseph Burghel, Jamie M Ellingford, Ronnie Wright, Lauren Bradford, Jake Miller, Christopher Watt, Jonathan Edgerley, Farah Naeem, Siddharth Banka
Systematic reanalysis of copy number losses of uncertain clinical significance. Journal of medical genetics (2024)
German Demidov, Steven Laurie, Annalaura Torella, Giulio Piluso, Marcello Scala, Manuela Morleo, Vincenzo Nigro, Holm Graessner, Siddharth Banka, null null, Katja Lohmann, Stephan Ossowski
Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes. European journal of human genetics : EJHG 32 (8) (2024)
Andrew H Crosby, Richard H Scott, Siddharth Banka, James Buchanan, Louise Fish, Sarah L Wynn, Dominic J C Wilkinson, Sian Ellard, Daniel G MacArthur, Zornitza Stark
Exploring the benefits, harms and costs of genomic newborn screening for rare diseases. Nature medicine 30 (7) (2024)
German Demidov, Steven Laurie, Annalaura Torella, Giulio Piluso, Marcello Scala, Manuela Morleo, Vincenzo Nigro, Holm Graessner, Siddharth Banka, null null, Katja Lohmann, Stephan Ossowski
Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes. European journal of human genetics : EJHG 32 (8) (2024)
Sarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara, Courtney Vaccaro, Brynn Robertson, Jodi Hallgren, Jason Hulen, Cynthia J Watson, Víctor Faundes, Yannis Duffourd, Pearl Lee, M Celeste Simon, Xavier de la Cruz, Natália Padilla, Marco Flores-Mendez, Naiara Akizu, Jacqueline Smiler, Renata Pellegrino Da Silva, Dong Li, Michael E March, Abdias Diaz-Rosado, Isabella Peixoto de Barcelos, Zhao Xiang Choa, Chin Yan Lim, Christele Dubourg, Hubert Journel, Florence Demurger, Maureen S Mulhern, Cigdem Akman, Natalie Lippa, Marisa V Andrews, Dustin Baldridge, John N Constantino, Arie van Haeringen, Irina Snoeck-Streef, Penny Chow, Anne Hing, John M Graham, Margaret Au, Laurence Olivier-Faivre, Wei Shen, Rong Mao, Janice Palumbos, David Viskochil, William A Gahl, Cynthia J Tifft, Ellen F Macnamara, Natalie Hauser, Rebecca Miller, Jessica Maffeo, Alexandra Afenjar, Diane Doummar, Boris Keren, Pamela Arn, Sarah K Macklin, Ilse Meerschaut, Bert Callewaert, André Reis, Christiane Zweier, Carole Brewer, Anand Saggar, Marie F Smeland, Ajith Kumar, Frances Elmslie, Charu Deshpande, Mathilde Nizon, Benjamin Cogne, Yvette van Ierland, Martina Wilke, Marjon van Slegtenhorst, Suzanne Koudijs, Jin Yun Chen, David Dredge, Danielle Pier, Saskia B Wortmann, Erik-Jan Kamsteeg, Johannes Koch, Devon Haynes, Lynda Pollack, Hannah Titheradge, Kara Ranguin, Anne Sophie Denommé-Pichon, Sacha Weber, Rubén Pérez de la Fuente, Jaime Sánchez Del Pozo, Jose Miguel Lezana Rosales, Pascal Joset, Katharina Steindl, Anita Rauch, Davide Mei, Francesco Mari, Renzo Guerrini, James Lespinasse, Frédéric Tran Mau Them, Christophe Philippe, Benjamin Dauriat, Laure Raymond, Sebastien Moutton, Anna Maria Cueto-González, Tiong Yang Tan, Cyril Mignot, Sarah Grotto, Florence Renaldo, Theodore G Drivas, Laura Hennessy, Anna Raper, Ilaria Parenti, Frank J Kaiser, Alma Kuechler, Øyvind L Busk, Lily Islam, Jacob A Siedlik, Lindsay B Henderson, Jane Juusola, Richard Person, Rhonda E Schnur, Antonio Vitobello, Siddharth Banka, Elizabeth Joyce Bhoj, Holly A F Stessman
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Science advances 9 (10) (2023)
Domagoj Cikes, Kareem Elsayad, Erdinc Sezgin, Erika Koitai, Ferenc Torma, Michael Orthofer, Rebecca Yarwood, Leonhard X Heinz, Vitaly Sedlyarov, Nasser Darwish Miranda, Adrian Taylor, Sophie Grapentine, Fathiya Al-Murshedi, Anne Abot, Adelheid Weidinger, Candice Kutchukian, Colline Sanchez, Shane J F Cronin, Maria Novatchkova, Anoop M Kavirayani, Thomas Schuetz, Bernhard Haubner, Lisa Haas, Astrid Hagelkruys, Suzanne Jackowski, Andrey V Kozlov, Vincent Jacquemond, Claude Knauf, Giulio Superti-Furga, Tommy R Lundberg, Thomas Gustafsson, John McDermot, Martin Lowe, Zsolt Radak, Jeffrey S Chamberlain, Marica Bakovic, Siddharth Banka, Josef M Penninger
PCYT2-regulated lipid biosynthesis is critical to muscle health and ageing. Nature metabolism (2023)
Domagoj Cikes, Kareem Elsayad, Erdinc Sezgin, Erika Koitai, Ferenc Torma, Michael Orthofer, Rebecca Yarwood, Leonhard X Heinz, Vitaly Sedlyarov, Nasser Darwish Miranda, Adrian Taylor, Sophie Grapentine, Fathiya Al-Murshedi, Anne Abot, Adelheid Weidinger, Candice Kutchukian, Colline Sanchez, Shane J F Cronin, Maria Novatchkova, Anoop M Kavirayani, Thomas Schuetz, Bernhard Haubner, Lisa Haas, Astrid Hagelkruys, Suzanne Jackowski, Andrey V Kozlov, Vincent Jacquemond, Claude Knauf, Giulio Superti-Furga, Tommy R Lundberg, Thomas Gustafsson, John McDermot, Martin Lowe, Zsolt Radak, Jeffrey S Chamberlain, Marica Bakovic, Siddharth Banka, Josef M Penninger
Author Correction: PCYT2-regulated lipid biosynthesis is critical to muscle health and ageing. Nature metabolism (2023)
Sarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara, Courtney Vaccaro, Brynn Robertson, Jodi Hallgren, Jason Hulen, Cynthia J Watson, Víctor Faundes, Yannis Duffourd, Pearl Lee, M Celeste Simon, Xavier de la Cruz, Natália Padilla, Marco Flores-Mendez, Naiara Akizu, Jacqueline Smiler, Renata Pellegrino Da Silva, Dong Li, Michael E March, Abdias Diaz-Rosado, Isabella Peixoto de Barcelos, Zhao Xiang Choa, Chin Yan Lim, Christele Dubourg, Hubert Journel, Florence Demurger, Maureen S Mulhern, Cigdem Akman, Natalie Lippa, Marisa V Andrews, Dustin Baldridge, John N Constantino, Arie van Haeringen, Irina Snoeck-Streef, Penny Chow, Anne Hing, John M Graham, Margaret Au, Laurence Olivier-Faivre, Wei Shen, Rong Mao, Janice Palumbos, David Viskochil, William A Gahl, Cynthia J Tifft, Ellen F Macnamara, Natalie Hauser, Rebecca Miller, Jessica Maffeo, Alexandra Afenjar, Diane Doummar, Boris Keren, Pamela Arn, Sarah K Macklin, Ilse Meerschaut, Bert Callewaert, André Reis, Christiane Zweier, Carole Brewer, Anand Saggar, Marie F Smeland, Ajith Kumar, Frances Elmslie, Charu Deshpande, Mathilde Nizon, Benjamin Cogne, Yvette van Ierland, Martina Wilke, Marjon van Slegtenhorst, Suzanne Koudijs, Jin Yun Chen, David Dredge, Danielle Pier, Saskia B Wortmann, Erik-Jan Kamsteeg, Johannes Koch, Devon Haynes, Lynda Pollack, Hannah Titheradge, Kara Ranguin, Anne Sophie Denommé-Pichon, Sacha Weber, Rubén Pérez de la Fuente, Jaime Sánchez Del Pozo, Jose Miguel Lezana Rosales, Pascal Joset, Katharina Steindl, Anita Rauch, Davide Mei, Francesco Mari, Renzo Guerrini, James Lespinasse, Frédéric Tran Mau Them, Christophe Philippe, Benjamin Dauriat, Laure Raymond, Sebastien Moutton, Anna Maria Cueto-González, Tiong Yang Tan, Cyril Mignot, Sarah Grotto, Florence Renaldo, Theodore G Drivas, Laura Hennessy, Anna Raper, Ilaria Parenti, Frank J Kaiser, Alma Kuechler, Øyvind L Busk, Lily Islam, Jacob A Siedlik, Lindsay B Henderson, Jane Juusola, Richard Person, Rhonda E Schnur, Antonio Vitobello, Siddharth Banka, Elizabeth Joyce Bhoj, Holly A F Stessman
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Science advances 9 (10) (2023)
Adam Jackson, Celia Moss, Kate E Chandler, Pablo Lopez Balboa, Maria L Bageta, Gabriela Petrof, Anna E Martinez, Lu Liu, Alyson Guy, Jemima E Mellerio, John Y W Lee, Malobi Ogboli, Gavin Ryan, null null, John A McGrath, Siddharth Banka
Biallelic TUFT1 variants cause woolly hair, superficial skin fragility and desmosomal defects. The British journal of dermatology 188 (1) (2023)
Carolina Gracia-Diaz, Yijing Zhou, Qian Yang, Reza Maroofian, Paula Espana-Bonilla, Chul-Hwan Lee, Shuo Zhang, Natália Padilla, Raquel Fueyo, Elisa A Waxman, Sunyimeng Lei, Garrett Otrimski, Dong Li, Sarah E Sheppard, Paul R Mark, Margaret H Harr, Hakon H Hakonarson, Lance Rodan, Adam Jackson, Pradeep Vasudevan, Corrina Powel, Shehla Mohammed, Sateesh Maddirevula, Hamad Alzaidan, Eissa A Faqeih, Stephanie Efthymiou, Valentina Turchetti, Fatima Rahman, Shazia Maqbool, Vincenzo Salpietro, Shahnaz H Ibrahim, Gabriella di Rosa, Henry Houlden, Maha Nasser Alharbi, Nouriya Abbas Al-Sannaa, Peter Bauer, Giovanni Zifarelli, Conchi Estaras, Anna C E Hurst, Michelle L Thompson, Anna Chassevent, Constance L Smith-Hicks, Xavier de la Cruz, Alexander M Holtz, Houda Zghal Elloumi, M J Hajianpour, Claudine Rieubland, Dominique Braun, Siddharth Banka, null null, Deborah L French, Elizabeth A Heller, Murielle Saade, Hongjun Song, Guo-Li Ming, Fowzan Sami Alkuraya, Pankaj B Agrawal, Danny Reinberg, Elizabeth J Bhoj, Marian A Martínez-Balbás, Naiara Akizu
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders. Nature communications 14 (1) (2023)
Sarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara, Courtney Vaccaro, Brynn Robertson, Jodi Hallgren, Jason Hulen, Cynthia J Watson, Víctor Faundes, Yannis Duffourd, Pearl Lee, M Celeste Simon, Xavier de la Cruz, Natália Padilla, Marco Flores-Mendez, Naiara Akizu, Jacqueline Smiler, Renata Pellegrino Da Silva, Dong Li, Michael E March, Abdias Diaz-Rosado, Isabella Peixoto de Barcelos, Zhao Xiang Choa, Chin Yan Lim, Christele Dubourg, Hubert Journel, Florence Demurger, Maureen S Mulhern, Cigdem Akman, Natalie Lippa, Marisa V Andrews, Dustin Baldridge, John N Constantino, Arie van Haeringen, Irina Snoeck-Streef, Penny Chow, Anne Hing, John M Graham, Margaret Au, Laurence Olivier-Faivre, Wei Shen, Rong Mao, Janice Palumbos, David Viskochil, William A Gahl, Cynthia J Tifft, Ellen F Macnamara, Natalie Hauser, Rebecca Miller, Jessica Maffeo, Alexandra Afenjar, Diane Doummar, Boris Keren, Pamela Arn, Sarah K Macklin, Ilse Meerschaut, Bert Callewaert, André Reis, Christiane Zweier, Carole Brewer, Anand Saggar, Marie F Smeland, Ajith Kumar, Frances Elmslie, Charu Deshpande, Mathilde Nizon, Benjamin Cogne, Yvette van Ierland, Martina Wilke, Marjon van Slegtenhorst, Suzanne Koudijs, Jin Yun Chen, David Dredge, Danielle Pier, Saskia B Wortmann, Erik-Jan Kamsteeg, Johannes Koch, Devon Haynes, Lynda Pollack, Hannah Titheradge, Kara Ranguin, Anne Sophie Denommé-Pichon, Sacha Weber, Rubén Pérez de la Fuente, Jaime Sánchez Del Pozo, Jose Miguel Lezana Rosales, Pascal Joset, Katharina Steindl, Anita Rauch, Davide Mei, Francesco Mari, Renzo Guerrini, James Lespinasse, Frédéric Tran Mau Them, Christophe Philippe, Benjamin Dauriat, Laure Raymond, Sebastien Moutton, Anna Maria Cueto-González, Tiong Yang Tan, Cyril Mignot, Sarah Grotto, Florence Renaldo, Theodore G Drivas, Laura Hennessy, Anna Raper, Ilaria Parenti, Frank J Kaiser, Alma Kuechler, Øyvind L Busk, Lily Islam, Jacob A Siedlik, Lindsay B Henderson, Jane Juusola, Richard Person, Rhonda E Schnur, Antonio Vitobello, Siddharth Banka, Elizabeth Joyce Bhoj, Holly A F Stessman
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Science advances 9 (10) (2023)
Domagoj Cikes, Kareem Elsayad, Erdinc Sezgin, Erika Koitai, Ferenc Torma, Michael Orthofer, Rebecca Yarwood, Leonhard X Heinz, Vitaly Sedlyarov, Nasser Darwish Miranda, Adrian Taylor, Sophie Grapentine, Fathiya Al-Murshedi, Anne Abot, Adelheid Weidinger, Candice Kutchukian, Colline Sanchez, Shane J F Cronin, Maria Novatchkova, Anoop M Kavirayani, Thomas Schuetz, Bernhard Haubner, Lisa Haas, Astrid Hagelkruys, Suzanne Jackowski, Andrey V Kozlov, Vincent Jacquemond, Claude Knauf, Giulio Superti-Furga, Tommy R Lundberg, Thomas Gustafsson, John McDermot, Martin Lowe, Zsolt Radak, Jeffrey S Chamberlain, Marica Bakovic, Siddharth Banka, Josef M Penninger
PCYT2-regulated lipid biosynthesis is critical to muscle health and ageing. Nature metabolism (2023)
Domagoj Cikes, Kareem Elsayad, Erdinc Sezgin, Erika Koitai, Ferenc Torma, Michael Orthofer, Rebecca Yarwood, Leonhard X Heinz, Vitaly Sedlyarov, Nasser Darwish Miranda, Adrian Taylor, Sophie Grapentine, Fathiya Al-Murshedi, Anne Abot, Adelheid Weidinger, Candice Kutchukian, Colline Sanchez, Shane J F Cronin, Maria Novatchkova, Anoop M Kavirayani, Thomas Schuetz, Bernhard Haubner, Lisa Haas, Astrid Hagelkruys, Suzanne Jackowski, Andrey V Kozlov, Vincent Jacquemond, Claude Knauf, Giulio Superti-Furga, Tommy R Lundberg, Thomas Gustafsson, John McDermot, Martin Lowe, Zsolt Radak, Jeffrey S Chamberlain, Marica Bakovic, Siddharth Banka, Josef M Penninger
PCYT2-regulated lipid biosynthesis is critical to muscle health and ageing. Nature metabolism (2023)
Sarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara, Courtney Vaccaro, Brynn Robertson, Jodi Hallgren, Jason Hulen, Cynthia J Watson, Víctor Faundes, Yannis Duffourd, Pearl Lee, M Celeste Simon, Xavier de la Cruz, Natália Padilla, Marco Flores-Mendez, Naiara Akizu, Jacqueline Smiler, Renata Pellegrino Da Silva, Dong Li, Michael E March, Abdias Diaz-Rosado, Isabella Peixoto de Barcelos, Zhao Xiang Choa, Chin Yan Lim, Christele Dubourg, Hubert Journel, Florence Demurger, Maureen S Mulhern, Cigdem Akman, Natalie Lippa, Marisa V Andrews, Dustin Baldridge, John N Constantino, Arie van Haeringen, Irina Snoeck-Streef, Penny Chow, Anne Hing, John M Graham, Margaret Au, Laurence Olivier-Faivre, Wei Shen, Rong Mao, Janice Palumbos, David Viskochil, William A Gahl, Cynthia J Tifft, Ellen F Macnamara, Natalie Hauser, Rebecca Miller, Jessica Maffeo, Alexandra Afenjar, Diane Doummar, Boris Keren, Pamela Arn, Sarah K Macklin, Ilse Meerschaut, Bert Callewaert, André Reis, Christiane Zweier, Carole Brewer, Anand Saggar, Marie F Smeland, Ajith Kumar, Frances Elmslie, Charu Deshpande, Mathilde Nizon, Benjamin Cogne, Yvette van Ierland, Martina Wilke, Marjon van Slegtenhorst, Suzanne Koudijs, Jin Yun Chen, David Dredge, Danielle Pier, Saskia B Wortmann, Erik-Jan Kamsteeg, Johannes Koch, Devon Haynes, Lynda Pollack, Hannah Titheradge, Kara Ranguin, Anne Sophie Denommé-Pichon, Sacha Weber, Rubén Pérez de la Fuente, Jaime Sánchez Del Pozo, Jose Miguel Lezana Rosales, Pascal Joset, Katharina Steindl, Anita Rauch, Davide Mei, Francesco Mari, Renzo Guerrini, James Lespinasse, Frédéric Tran Mau Them, Christophe Philippe, Benjamin Dauriat, Laure Raymond, Sebastien Moutton, Anna Maria Cueto-González, Tiong Yang Tan, Cyril Mignot, Sarah Grotto, Florence Renaldo, Theodore G Drivas, Laura Hennessy, Anna Raper, Ilaria Parenti, Frank J Kaiser, Alma Kuechler, Øyvind L Busk, Lily Islam, Jacob A Siedlik, Lindsay B Henderson, Jane Juusola, Richard Person, Rhonda E Schnur, Antonio Vitobello, Siddharth Banka, Elizabeth Joyce Bhoj, Holly A F Stessman
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Science advances 9 (10) (2023)
Mylène Tharreau, Aurore Garde, Sandrine Marlin, Godelieve Morel, Sylvain Ernest, Sophie Nambot, Yannis Duffourd, Ninon Ternoy, Christian Duvillard, Siddharth Banka, Christophe Philippe, Christel Thauvin-Robinet, Frederic Tran Mau-Them, Laurence Olivier-Faivre
Refining the clinical phenotype associated with missense variants in exons 38 and 39 of KMT2D. American journal of medical genetics. Part A 188 (5) (2022)
Siddharth Banka, Abigail Bennington, Martin J Baker, Ellen Rijckmans, Giuliana D Clemente, Nurhuda Mohamad Ansor, Hilary Sito, Pritha Prasad, Kwame Anyane-Yeboa, Lauren Badalato, Boyan Dimitrov, David Fitzpatrick, Anna C E Hurst, Anna C Jansen, Melissa A Kelly, Ian Krantz, Claudine Rieubland, Meredith Ross, Natasha L Rudy, Javier Sanz, Katrien Stouffs, Zhuo Luan Xu, Angeliki Malliri, Marcelo G Kazanietz, Tom H Millard
Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology. Brain : a journal of neurology (2022)
Spatikha Sitaram, Hetalika C Banka, Grace Vassallo, Julija Pavaine, Adele Fairclough, Ronnie Wright, Lynette Fairbanks, Jörgen Bierau, Lydia Bowden, Bernd Schwahn, Alistair Horman, Siddharth Banka
Anticipatory banking of samples enables diagnosis of adenylosuccinase deficiency following molecular autopsy in an infant with vacuolating leukoencephalopathy. American journal of medical genetics. Part A (2022)
Emma Elizabeth Palmer, Michael Pusch, Alessandra Picollo, Caitlin Forwood, Matthew H Nguyen, Vanessa Suckow, Jessica Gibbons, Alva Hoff, Lisa Sigfrid, Andre Megarbane, Mathilde Nizon, Benjamin Cogné, Claire Beneteau, Fowzan Sami Alkuraya, Aziza Chedrawi, Mais O Hashem, Hannah Stamberger, Sarah Weckhuysen, Arnaud Vanlander, Berten Ceulemans, Sulekha Rajagopalan, Kenneth Nunn, Stéphanie Arpin, Martine Raynaud, Constance S Motter, Catherine Ward-Melver, Katrien Janssens, Marije Meuwissen, Diane Beysen, Nicola Dikow, Mona Grimmel, Tobias B Haack, Emma Clement, Amy McTague, David Hunt, Sharron Townshend, Michelle Ward, Linda J Richards, Cas Simons, Gregory Costain, Lucie Dupuis, Roberto Mendoza-Londono, Tracy Dudding-Byth, Jackie Boyle, Carol Saunders, Emily Fleming, Salima El Chehadeh, Marie-Aude Spitz, Amelie Piton, Bénédicte Gerard, Marie-Thérèse Abi Warde, Gillian Rea, Caoimhe McKenna, Sofia Douzgou, Siddharth Banka, Cigdem Akman, Jennifer M Bain, Tristan T Sands, Golder N Wilson, Erin J Silvertooth, Lauren Miller, Damien Lederer, Rani Sachdev, Rebecca Macintosh, Olivier Monestier, Deniz Karadurmus, Felicity Collins, Melissa Carter, Luis Rohena, Marjolein H Willemsen, Charlotte W Ockeloen, Rolph Pfundt, Sanne D Kroft, Michael J Field, Francisco E R Laranjeira, Ana M Fortuna, Ana Rita Soares, Vincent Michaud, Sophie Naudion, Sailaja Golla, David D Weaver, Lynne M Bird, Jennifer Friedman, Virginia Clowes, Shelagh Joss, Laura Pölsler, Philippe M Campeau, Maria Blazo, Emilia K Bijlsma, Jill A Rosenfeld, Christian Beetz, Zöe Powis, Kirsty McWalter, Tracy Brandt, Erin Torti, Mikaël Mathot, Shekeeb S Mohammad, Ruth Armstrong, Vera M Kalscheuer
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition. Molecular psychiatry (2022)
Sunwoo Lee, Eguzkine Ochoa, Katy Barwick, Laura Cif, Fay Rodger, France Docquier, Belen Perez-Duenas, Graeme Clark, Ezequiel Martin, Siddharth Banka, Manju A Kurian, Eamonn R Maher
Comparison of methylation episignatures in KMT2B - and KMT2D -related human disorders. Epigenomics 14 (9) (2022)
Ranjay Jayadev, Mychel Raony P T Morais, Jamie M Ellingford, Sandhya Srinivasan, Richard W Naylor, Craig Lawless, Anna S Li, Jack F Ingham, Eric Hastie, Qiuyi Chi, Maryline Fresquet, Nikki-Maria Koudis, Huw B Thomas, Raymond T O'Keefe, Emily Williams, Antony D Adamson, Helen M Stuart, Siddharth Banka, Damian Smedley, null null, David R Sherwood, Rachel Lennon
A basement membrane discovery pipeline uncovers network complexity, regulators, and human disease associations. Science advances 8 (20) (2022)
Siddharth Banka, Stavit Shalev, Soo-Mi Park, Katherine A Wood, Huw B Thomas, Helen L Wright, Mohammed Alyahya, Sean Bankier, Ola Alimi, Elena Chervinsky, Leo A H Zeef, Raymond T O'Keefe
Bi-allelic FRA10AC1 variants in a multisystem human syndrome. Brain : a journal of neurology 145 (10) (2022)
Kari A Mattison, Gilles Tossing, Fred Mulroe, Callum Simmons, Kameryn M Butler, Alison Schreiber, Adnan Alsadah, Derek E Neilson, Karin Naess, Anna Wedell, Anna Wredenberg, Arthur Sorlin, Emma McCann, George J Burghel, Beatriz Menendez, George E Hoganson, Lorenzo D Botto, Francis M Filloux, Ángel Aledo-Serrano, Antonio Gil-Nagel, Katrina Tatton-Brown, Nienke E Verbeek, Michele van Hirtum-Das, Jeroen Breckpot, Trine Bjørg Hammer, Rikke S Møller, Andrea Whitney, Andrew G L Douglas, Mira Kharbanda, Nicola Brunetti-Pierri, Manuela Morleo, Vincenzo Nigro, Halie J May, James X Tao, Emanuela Argili, Elliot H Sherr, William B Dobyns, Genomics England Research Consortium, Richard A Baines, Jim Warwicker, J Alex Parker, Siddharth Banka, Katta Mohan Girisha, Philippe M Campeau
ATP6V0C variants impair vacuolar V-ATPase causing a neurodevelopmental disorder often associated with epilepsy. Brain : a journal of neurology (2022)
Leslie Patricia Molina-Ramírez, Emma Mm Burkitt-Wright, Haroon Saeed, John Henry McDermott, Claire Kyle, Ronnie Wright, Christopher Campbell, Sanjeev S Bhaskar, Algy Taylor, Laura Dutton, Claire Forde, Kay Metcalfe, Audrey Smith, Jill Clayton-Smith, Sofia Douzgou Houge, Kate Chandler, Tracy A Briggs, Siddharth Banka, William G Newman, David Gokhale, Iain A Bruce, Graeme C M Black
The diagnostic utility of clinical exome sequencing in 60 patients with hearing loss disorders: A single-institution experience. Clinical otolaryngology : official journal of ENT-UK ; official journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery 46 (6) (2021)
Alexander J M Blakes, Joel English, Siddharth Banka, Helen Basu
A homozygous GRIN1 null variant causes a more severe phenotype of early infantile epileptic encephalopathy. American journal of medical genetics. Part A (2021)
Víctor Faundes, Martin D Jennings, Siobhan Crilly, Sarah Legraie, Sarah E Withers, Sara Cuvertino, Sally J Davies, Andrew G L Douglas, Andrew E Fry, Victoria Harrison, Jeanne Amiel, Daphné Lehalle, William G Newman, Patricia Newkirk, Judith Ranells, Miranda Splitt, Laura Ann Cross, Carol J Saunders, Bonnie R Sullivan, Jorge L Granadillo, Christopher T Gordon, Paul R Kasher, Graham D Pavitt, Siddharth Banka
Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine. Nature communications 12 (1) (2021)
Víctor Faundes, Stephanie Goh, Rhoda Akilapa, Heidre Bezuidenhout, Hans T Bjornsson, Lisa Bradley, Angela F Brady, Elise Brischoux-Boucher, Han Brunner, Saskia Bulk, Natalie Canham, Declan Cody, Maria Lisa Dentici, Maria Cristina Digilio, Frances Elmslie, Andrew E Fry, Harinder Gill, Jane Hurst, Diana Johnson, Sophie Julia, Katherine Lachlan, Robert Roger Lebel, Melissa Byler, Eric Gershon, Edmond Lemire, Maria Gnazzo, Francesca Romana Lepri, Antonia Marchese, Meriel McEntagart, Julie McGaughran, Seiji Mizuno, Nobuhiko Okamoto, Claudine Rieubland, Jonathan Rodgers, Erina Sasaki, Emmanuel Scalais, Ingrid Scurr, Mohnish Suri, Ineke van der Burgt, Naomichi Matsumoto, Noriko Miyake, Valérie Benoit, Damien Lederer, Siddharth Banka
Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2. Genetics in medicine : official journal of the American College of Medical Genetics 23 (7) (2021)
Leslie Patricia Molina-Ramírez, Claire Kyle, Jamie M Ellingford, Ronnie Wright, Algy Taylor, Sanjeev S Bhaskar, Christopher Campbell, Harriet Jackson, Adele Fairclough, Abigail Rousseau, George Joseph Burghel, Laura Dutton, Siddharth Banka, Tracy A Briggs, Jill Clayton-Smith, Sofia Douzgou Houge, Elizabeth A Jones, Helen M Kingston, Bronwyn Kerr, John Ealing, Suresh Somarathi, Kate E Chandler, Helen M Stuart, Emma Mm Burkitt-Wright, William G Newman, Iain A Bruce, Graeme C Black, David Gokhale
Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders. Journal of medical genetics (2021)
Adam Jackson, Siddharth Banka, Helen Stewart, null null, Hannah Robinson, Simon Lovell, Jill Clayton-Smith
Recurrent KCNT2 missense variants affecting p.Arg190 result in a recognizable phenotype. American journal of medical genetics. Part A 185 (10) (2021)
Sara Cuvertino, Verity Hartill, Alice Colyer, Terence Garner, Nisha Nair, Lihadh Al-Gazali, Natalie Canham, Victor Faundes, Frances Flinter, Jozef Hertecant, Muriel Holder-Espinasse, Brian Jackson, Sally Ann Lynch, Fatima Nadat, Vagheesh M Narasimhan, Michelle Peckham, Robert Sellers, Marco Seri, Francesca Montanari, Laura Southgate, Gabriella Maria Squeo, Richard Trembath, David van Heel, Santina Venuto, Daniel Weisberg, Karen Stals, Sian Ellard, null null, Anne Barton, Susan J Kimber, Eamonn Sheridan, Giuseppe Merla, Adam Stevens, Colin A Johnson, Siddharth Banka
A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome. Genetics in medicine : official journal of the American College of Medical Genetics 22 (5) (2020)
Rory James Tinker, George J Burghel, Shruti Garg, Maggie Steggall, Sara Cuvertino, Siddharth Banka
Haploinsufficiency of ATP6V0C possibly underlies 16p13.3 deletions that cause microcephaly, seizures, and neurodevelopmental disorder. American journal of medical genetics. Part A (2020)
Siddharth Banka, Rebecca Sayer, Catherine Breen, Stephanie Barton, Julija Pavaine, Sarah E Sheppard, Emma C Bedoukian, Cara Skraban, Vishnu A Cuddapah, Jill Clayton-Smith
Genotype-phenotype specificity in Menke-Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBP. American journal of medical genetics. Part A 179 (6) (2019)
Víctor Faundes, Geraldine Malone, William G Newman, Siddharth Banka
A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general population. Journal of human genetics 64 (2) (2018)
Arunabha Ghosh, Helene Schlecht, Lesley E Heptinstall, John K Bassett, Eleanor Cartwright, Sanjeev S Bhaskar, Jill Urquhart, Alexander Broomfield, Andrew Am Morris, Elisabeth Jameson, Bernd C Schwahn, John H Walter, Sofia Douzgou, Helen Murphy, Chris Hendriksz, Reena Sharma, Gisela Wilcox, Ellen Crushell, Ardeshir A Monavari, Richard Martin, Anne Doolan, Senthil Senniappan, Simon C Ramsden, Simon A Jones, Siddharth Banka
Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing. Archives of disease in childhood 102 (11) (2017)
Alejandro Sifrim, Marc-Phillip Hitz, Anna Wilsdon, Jeroen Breckpot, Saeed H Al Turki, Bernard Thienpont, Jeremy McRae, Tomas W Fitzgerald, Tarjinder Singh, Ganesh Jawahar Swaminathan, Elena Prigmore, Diana Rajan, Hashim Abdul-Khaliq, Siddharth Banka, Ulrike M M Bauer, Jamie Bentham, Felix Berger, Shoumo Bhattacharya, Frances Bu'Lock, Natalie Canham, Irina-Gabriela Colgiu, Catherine Cosgrove, Helen Cox, Ingo Daehnert, Allan Daly, John Danesh, Alan Fryer, Marc Gewillig, Emma Hobson, Kirstin Hoff, Tessa Homfray, null null, Anne-Karin Kahlert, Ami Ketley, Hans-Heiner Kramer, Katherine Lachlan, Anne Katrin Lampe, Jacoba J Louw, Ashok Kumar Manickara, Dorin Manase, Karen P McCarthy, Kay Metcalfe, Carmel Moore, Ruth Newbury-Ecob, Seham Osman Omer, Willem H Ouwehand, Soo-Mi Park, Michael J Parker, Thomas Pickardt, Martin O Pollard, Leema Robert, David J Roberts, Jennifer Sambrook, Kerry Setchfield, Brigitte Stiller, Chris Thornborough, Okan Toka, Hugh Watkins, Denise Williams, Michael Wright, Seema Mital, Piers E F Daubeney, Bernard D Keavney, Judith Goodship, null null, Riyadh Mahdi Abu-Sulaiman, Sabine Klaassen, Caroline F Wright, Helen V Firth, Jeffrey C Barrett, Koenraad Devriendt, David R FitzPatrick, J David Brook, null null, Matthew E Hurles
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing. Nature genetics 48 (9) (2016)
Siddharth Banka, William G Newman
Response to: 'Mutation in MMP2 gene may result in scleroderma-like skin thickening' by Bader-Meunier et al. Annals of the rheumatic diseases 75 (1) (2015)
Siddharth Banka, Stuart A Cain, Sabrya Carim, Sarah B Daly, Jill E Urquhart, Günhan Erdem, Jade Harris, Michelle Bottomley, Dian Donnai, Bronwyn Kerr, Helen Kingston, Andreas Superti-Furga, Sheila Unger, Holly Ennis, Jane Worthington, Ariane L Herrick, Catherine L R Merry, Wyatt W Yue, Cay M Kielty, William G Newman
Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis. Annals of the rheumatic diseases 74 (6) (2014)

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Siddharth Banka