Ajith Kumar

ORCID

Publication Activity (10 Years)

Years Active: 2015-2023
Publications (10 Years): 13

Top Venues

Nature communications

Science advances

Molecular genetics & genomic medicine

European journal of human genetics : EJHG

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

Publications

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)
Marie Bernkopf, Ummi B Abdullah, Stephen J Bush, Katherine A Wood, Sahar Ghaffari, Eleni Giannoulatou, Nils Koelling, Geoffrey J Maher, Loïc M Thibaut, Jonathan Williams, Edward M Blair, Fiona Blanco Kelly, Angela Bloss, Emma Burkitt-Wright, Natalie Canham, Alexander T Deng, Abhijit Dixit, Jacqueline Eason, Frances Elmslie, Alice Gardham, Eleanor Hay, Muriel Holder, Tessa Homfray, Jane A Hurst, Diana Johnson, Wendy D Jones, Usha Kini, Emma Kivuva, Ajith Kumar, Melissa M Lees, Harry G Leitch, Jenny E V Morton, Andrea H Németh, Shwetha Ramachandrappa, Katherine Saunders, Deborah J Shears, Lucy Side, Miranda Splitt, Alison Stewart, Helen Stewart, Mohnish Suri, Penny Clouston, Robert W Davies, Andrew O M Wilkie, Anne Goriely
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation. Nature communications 14 (1) (2023)
Marie Bernkopf, Ummi B Abdullah, Stephen J Bush, Katherine A Wood, Sahar Ghaffari, Eleni Giannoulatou, Nils Koelling, Geoffrey J Maher, Loïc M Thibaut, Jonathan Williams, Edward M Blair, Fiona Blanco Kelly, Angela Bloss, Emma Burkitt-Wright, Natalie Canham, Alexander T Deng, Abhijit Dixit, Jacqueline Eason, Frances Elmslie, Alice Gardham, Eleanor Hay, Muriel Holder, Tessa Homfray, Jane A Hurst, Diana Johnson, Wendy D Jones, Usha Kini, Emma Kivuva, Ajith Kumar, Melissa M Lees, Harry G Leitch, Jenny E V Morton, Andrea H Németh, Shwetha Ramachandrappa, Katherine Saunders, Deborah J Shears, Lucy Side, Miranda Splitt, Alison Stewart, Helen Stewart, Mohnish Suri, Penny Clouston, Robert W Davies, Andrew O M Wilkie, Anne Goriely
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation. Nature communications 14 (1) (2023)
Marie Bernkopf, Ummi B Abdullah, Stephen J Bush, Katherine A Wood, Sahar Ghaffari, Eleni Giannoulatou, Nils Koelling, Geoffrey J Maher, Loïc M Thibaut, Jonathan Williams, Edward M Blair, Fiona Blanco Kelly, Angela Bloss, Emma Burkitt-Wright, Natalie Canham, Alexander T Deng, Abhijit Dixit, Jacqueline Eason, Frances Elmslie, Alice Gardham, Eleanor Hay, Muriel Holder, Tessa Homfray, Jane A Hurst, Diana Johnson, Wendy D Jones, Usha Kini, Emma Kivuva, Ajith Kumar, Melissa M Lees, Harry G Leitch, Jenny E V Morton, Andrea H Németh, Shwetha Ramachandrappa, Katherine Saunders, Deborah J Shears, Lucy Side, Miranda Splitt, Alison Stewart, Helen Stewart, Mohnish Suri, Penny Clouston, Robert W Davies, Andrew O M Wilkie, Anne Goriely
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation. Nature communications 14 (1) (2023)
Marie Bernkopf, Ummi B Abdullah, Stephen J Bush, Katherine A Wood, Sahar Ghaffari, Eleni Giannoulatou, Nils Koelling, Geoffrey J Maher, Loïc M Thibaut, Jonathan Williams, Edward M Blair, Fiona Blanco Kelly, Angela Bloss, Emma Burkitt-Wright, Natalie Canham, Alexander T Deng, Abhijit Dixit, Jacqueline Eason, Frances Elmslie, Alice Gardham, Eleanor Hay, Muriel Holder, Tessa Homfray, Jane A Hurst, Diana Johnson, Wendy D Jones, Usha Kini, Emma Kivuva, Ajith Kumar, Melissa M Lees, Harry G Leitch, Jenny E V Morton, Andrea H Németh, Shwetha Ramachandrappa, Katherine Saunders, Deborah J Shears, Lucy Side, Miranda Splitt, Alison Stewart, Helen Stewart, Mohnish Suri, Penny Clouston, Robert W Davies, Andrew O M Wilkie, Anne Goriely
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation. 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)
Marie Bernkopf, Ummi B Abdullah, Stephen J Bush, Katherine A Wood, Sahar Ghaffari, Eleni Giannoulatou, Nils Koelling, Geoffrey J Maher, Loïc M Thibaut, Jonathan Williams, Edward M Blair, Fiona Blanco Kelly, Angela Bloss, Emma Burkitt-Wright, Natalie Canham, Alexander T Deng, Abhijit Dixit, Jacqueline Eason, Frances Elmslie, Alice Gardham, Eleanor Hay, Muriel Holder, Tessa Homfray, Jane A Hurst, Diana Johnson, Wendy D Jones, Usha Kini, Emma Kivuva, Ajith Kumar, Melissa M Lees, Harry G Leitch, Jenny E V Morton, Andrea H Németh, Shwetha Ramachandrappa, Katherine Saunders, Deborah J Shears, Lucy Side, Miranda Splitt, Alison Stewart, Helen Stewart, Mohnish Suri, Penny Clouston, Robert W Davies, Andrew O M Wilkie, Anne Goriely
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation. Nature communications 14 (1) (2023)
Marie Bernkopf, Ummi B Abdullah, Stephen J Bush, Katherine A Wood, Sahar Ghaffari, Eleni Giannoulatou, Nils Koelling, Geoffrey J Maher, Loïc M Thibaut, Jonathan Williams, Edward M Blair, Fiona Blanco Kelly, Angela Bloss, Emma Burkitt-Wright, Natalie Canham, Alexander T Deng, Abhijit Dixit, Jacqueline Eason, Frances Elmslie, Alice Gardham, Eleanor Hay, Muriel Holder, Tessa Homfray, Jane A Hurst, Diana Johnson, Wendy D Jones, Usha Kini, Emma Kivuva, Ajith Kumar, Melissa M Lees, Harry G Leitch, Jenny E V Morton, Andrea H Németh, Shwetha Ramachandrappa, Katherine Saunders, Deborah J Shears, Lucy Side, Miranda Splitt, Alison Stewart, Helen Stewart, Mohnish Suri, Penny Clouston, Robert W Davies, Andrew O M Wilkie, Anne Goriely
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation. 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)
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)
Marie Bernkopf, Ummi B Abdullah, Stephen J Bush, Katherine A Wood, Sahar Ghaffari, Eleni Giannoulatou, Nils Koelling, Geoffrey J Maher, Loïc M Thibaut, Jonathan Williams, Edward M Blair, Fiona Blanco Kelly, Angela Bloss, Emma Burkitt-Wright, Natalie Canham, Alexander T Deng, Abhijit Dixit, Jacqueline Eason, Frances Elmslie, Alice Gardham, Eleanor Hay, Muriel Holder, Tessa Homfray, Jane A Hurst, Diana Johnson, Wendy D Jones, Usha Kini, Emma Kivuva, Ajith Kumar, Melissa M Lees, Harry G Leitch, Jenny E V Morton, Andrea H Németh, Shwetha Ramachandrappa, Katherine Saunders, Deborah J Shears, Lucy Side, Miranda Splitt, Alison Stewart, Helen Stewart, Mohnish Suri, Penny Clouston, Robert W Davies, Andrew O M Wilkie, Anne Goriely
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation. Nature communications 14 (1) (2023)
Vani Jain, Seow Hoong Foo, Stephen Chooi, Celia Moss, Richard Goodwin, Siren Berland, Angus John Clarke, Sally J Davies, Sian Corrin, Oliver Murch, Samantha Doyle, Gail E Graham, Lynn Greenhalgh, Susan E Holder, Diana Johnson, Ajith Kumar, Roger L Ladda, Susan Sell, Amber Begtrup, Sally A Lynch, Emma McCann, Rune Østern, Caroline Pottinger, Miranda Splitt, Andrew E Fry
Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families. European journal of human genetics : EJHG (2023)
Shereen Tadros, Rubin Wang, Jonathan J Waters, Christine Waterman, Amanda L Collins, Morag N Collinson, Joo W Ahn, Dragana Josifova, Ravi Chetan, Ajith Kumar
Inherited 2q23.1 microdeletions involving the MBD5 locus. Molecular genetics & genomic medicine 5 (5) (2017)
Nadia Akawi, Jeremy McRae, Morad Ansari, Meena Balasubramanian, Moira Blyth, Angela F Brady, Stephen Clayton, Trevor Cole, Charu Deshpande, Tomas W Fitzgerald, Nicola Foulds, Richard Francis, George Gabriel, Sebastian S Gerety, Judith Goodship, Emma Hobson, Wendy D Jones, Shelagh Joss, Daniel King, Nikolai Klena, Ajith Kumar, Melissa Lees, Christopher J Lelliott, Jenny Lord, Dominic McMullan, Mary O'Regan, Deborah Osio, Virginia Piombo, Elena Prigmore, Diana Rajan, Elisabeth Rosser, Alejandro Sifrim, Audrey Smith, Ganesh J Swaminathan, Peter Turnpenny, James Whitworth, Caroline F Wright, Helen V Firth, Jeffrey C Barrett, Cecilia W Lo, David R FitzPatrick, Matthew E Hurles, null null
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families. Nature genetics 47 (11) (2015)

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Publication Activity (10 Years)

Top Topics

Top Venues

Ajith Kumar