Clara D M van Karnebeek (C D van Karnebeek, Clara Dm van Karnebeek)

Publication Activity (10 Years)

Years Active: 2020-2023
Publications (10 Years): 11

Top Topics

Atopic Dermatitis

Intellectual Disability

Inflammatory Response

Top Venues

The Journal of experimental medicine

Orphanet journal of rare diseases

Developmental medicine and child neurology

Journal of inherited metabolic disease

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

Publications

Mehul Sharma, Daniel Leung, Mana Momenilandi, Lauren C W Jones, Lucia Pacillo, Alyssa E James, Jill R Murrell, Selket Delafontaine, Jesmeen Maimaris, Maryam Vaseghi-Shanjani, Kate L Del Bel, Henry Y Lu, Gilbert T Chua, Silvia Di Cesare, Oriol Fornes, Zhongyi Liu, Gigliola Di Matteo, Maggie P Fu, Donato Amodio, Issan Yee San Tam, Gavin Shueng Wai Chan, Ashish A Sharma, Joshua Dalmann, Robin van der Lee, Geraldine Blanchard-Rohner, Susan Lin, Quentin Philippot, Phillip Andrew Richmond, Jessica J Lee, Allison Matthews, Michael Seear, Alexandra K Turvey, Rachael L Philips, Terri F Brown-Whitehorn, Christopher J Gray, Kosuke Izumi, James R Treat, Kathleen H Wood, Justin Lack, Asya Khleborodova, Julie E Niemela, Xingtian Yang, Rui Liang, Lin Kui, Christina Sze-Man Wong, Grace Wing Kit Poon, Alexander Hoischen, Caspar I van der Made, Jing Yang, Koon Wing Chan, Jaime Sou Da Rosa Duque, Pamela Pui-Wah Lee, Marco Hok Kung Ho, Brian Hon-Yin Chung, Huong Thi Minh Le, Wanling Yang, Pejman Rohani, Ali Fouladvand, Hassan Rokni-Zadeh, Majid Changi-Ashtiani, Mohammad Miryounesi, Anne Puel, Mohammad Shahrooei, Andrea Finocchi, Paolo Rossi, Beatrice Rivalta, Cristina Cifaldi, Antonio Novelli, Chiara Passarelli, Stefania Arasi, Dominique M A Bullens, Kate Sauer, Tania Claeys, Catherine M Biggs, Emma Catherine Morris, Sergio D Rosenzweig, John J O'Shea, Wyeth W Wasserman, H Melanie Bedford, Clara D M van Karnebeek, Paolo Palma, Siobhan O Burns, Isabelle Meyts, Jean Laurent Casanova, Jonathan J Lyons, Nima Parvaneh, Anh Thi Van Nguyen, Caterina Cancrini, Jennifer Heimall, Hanan Ahmed, Margaret L McKinnon, Yu-Lung Lau, Vivien Béziat, Suzanne C Tough
Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease. The Journal of experimental medicine 220 (5) (2023)
Mehul Sharma, Daniel Leung, Mana Momenilandi, Lauren C W Jones, Lucia Pacillo, Alyssa E James, Jill R Murrell, Selket Delafontaine, Jesmeen Maimaris, Maryam Vaseghi-Shanjani, Kate L Del Bel, Henry Y Lu, Gilbert T Chua, Silvia Di Cesare, Oriol Fornes, Zhongyi Liu, Gigliola Di Matteo, Maggie P Fu, Donato Amodio, Issan Yee San Tam, Gavin Shueng Wai Chan, Ashish A Sharma, Joshua Dalmann, Robin van der Lee, Geraldine Blanchard-Rohner, Susan Lin, Quentin Philippot, Phillip Andrew Richmond, Jessica J Lee, Allison Matthews, Michael Seear, Alexandra K Turvey, Rachael L Philips, Terri F Brown-Whitehorn, Christopher J Gray, Kosuke Izumi, James R Treat, Kathleen H Wood, Justin Lack, Asya Khleborodova, Julie E Niemela, Xingtian Yang, Rui Liang, Lin Kui, Christina Sze-Man Wong, Grace Wing Kit Poon, Alexander Hoischen, Caspar I van der Made, Jing Yang, Koon Wing Chan, Jaime Sou Da Rosa Duque, Pamela Pui-Wah Lee, Marco Hok Kung Ho, Brian Hon-Yin Chung, Huong Thi Minh Le, Wanling Yang, Pejman Rohani, Ali Fouladvand, Hassan Rokni-Zadeh, Majid Changi-Ashtiani, Mohammad Miryounesi, Anne Puel, Mohammad Shahrooei, Andrea Finocchi, Paolo Rossi, Beatrice Rivalta, Cristina Cifaldi, Antonio Novelli, Chiara Passarelli, Stefania Arasi, Dominique M A Bullens, Kate Sauer, Tania Claeys, Catherine M Biggs, Emma Catherine Morris, Sergio D Rosenzweig, John J O'Shea, Wyeth W Wasserman, H Melanie Bedford, Clara D M van Karnebeek, Paolo Palma, Siobhan O Burns, Isabelle Meyts, Jean Laurent Casanova, Jonathan J Lyons, Nima Parvaneh, Anh Thi Van Nguyen, Caterina Cancrini, Jennifer Heimall, Hanan Ahmed, Margaret L McKinnon, Yu-Lung Lau, Vivien Béziat, Suzanne C Tough
Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease. The Journal of experimental medicine 220 (5) (2023)
L van de Riet, M W Alsem, E C van der Leest, F S van Etten-Jamaludin, J M Maaskant, J B M van Woensel, Clara D M van Karnebeek
Delineating family needs in the transition from hospital to home for children with medical complexity: part 1, a meta-aggregation of qualitative studies. Orphanet journal of rare diseases 18 (1) (2023)
L van de Riet, Mattijs W Alsem, R S I Beijneveld, J B M van Woensel, Clara D M van Karnebeek
Delineating family needs in the transition from hospital to home for children with medical complexity: part 2, a phenomenological study. Orphanet journal of rare diseases 18 (1) (2023)
Mehul Sharma, Daniel Leung, Mana Momenilandi, Lauren C W Jones, Lucia Pacillo, Alyssa E James, Jill R Murrell, Selket Delafontaine, Jesmeen Maimaris, Maryam Vaseghi-Shanjani, Kate L Del Bel, Henry Y Lu, Gilbert T Chua, Silvia Di Cesare, Oriol Fornes, Zhongyi Liu, Gigliola Di Matteo, Maggie P Fu, Donato Amodio, Issan Yee San Tam, Gavin Shueng Wai Chan, Ashish A Sharma, Joshua Dalmann, Robin van der Lee, Geraldine Blanchard-Rohner, Susan Lin, Quentin Philippot, Phillip Andrew Richmond, Jessica J Lee, Allison Matthews, Michael Seear, Alexandra K Turvey, Rachael L Philips, Terri F Brown-Whitehorn, Christopher J Gray, Kosuke Izumi, James R Treat, Kathleen H Wood, Justin Lack, Asya Khleborodova, Julie E Niemela, Xingtian Yang, Rui Liang, Lin Kui, Christina Sze-Man Wong, Grace Wing Kit Poon, Alexander Hoischen, Caspar I van der Made, Jing Yang, Koon Wing Chan, Jaime Sou Da Rosa Duque, Pamela Pui-Wah Lee, Marco Hok Kung Ho, Brian Hon-Yin Chung, Huong Thi Minh Le, Wanling Yang, Pejman Rohani, Ali Fouladvand, Hassan Rokni-Zadeh, Majid Changi-Ashtiani, Mohammad Miryounesi, Anne Puel, Mohammad Shahrooei, Andrea Finocchi, Paolo Rossi, Beatrice Rivalta, Cristina Cifaldi, Antonio Novelli, Chiara Passarelli, Stefania Arasi, Dominique M A Bullens, Kate Sauer, Tania Claeys, Catherine M Biggs, Emma Catherine Morris, Sergio D Rosenzweig, John J O'Shea, Wyeth W Wasserman, H Melanie Bedford, Clara D M van Karnebeek, Paolo Palma, Siobhan O Burns, Isabelle Meyts, Jean Laurent Casanova, Jonathan J Lyons, Nima Parvaneh, Anh Thi Van Nguyen, Caterina Cancrini, Jennifer Heimall, Hanan Ahmed, Margaret L McKinnon, Yu-Lung Lau, Vivien Béziat, Suzanne C Tough
Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease. The Journal of experimental medicine 220 (5) (2023)
Mehul Sharma, Daniel Leung, Mana Momenilandi, Lauren C W Jones, Lucia Pacillo, Alyssa E James, Jill R Murrell, Selket Delafontaine, Jesmeen Maimaris, Maryam Vaseghi-Shanjani, Kate L Del Bel, Henry Y Lu, Gilbert T Chua, Silvia Di Cesare, Oriol Fornes, Zhongyi Liu, Gigliola Di Matteo, Maggie P Fu, Donato Amodio, Issan Yee San Tam, Gavin Shueng Wai Chan, Ashish A Sharma, Joshua Dalmann, Robin van der Lee, Geraldine Blanchard-Rohner, Susan Lin, Quentin Philippot, Phillip Andrew Richmond, Jessica J Lee, Allison Matthews, Michael Seear, Alexandra K Turvey, Rachael L Philips, Terri F Brown-Whitehorn, Christopher J Gray, Kosuke Izumi, James R Treat, Kathleen H Wood, Justin Lack, Asya Khleborodova, Julie E Niemela, Xingtian Yang, Rui Liang, Lin Kui, Christina Sze-Man Wong, Grace Wing Kit Poon, Alexander Hoischen, Caspar I van der Made, Jing Yang, Koon Wing Chan, Jaime Sou Da Rosa Duque, Pamela Pui-Wah Lee, Marco Hok Kung Ho, Brian Hon-Yin Chung, Huong Thi Minh Le, Wanling Yang, Pejman Rohani, Ali Fouladvand, Hassan Rokni-Zadeh, Majid Changi-Ashtiani, Mohammad Miryounesi, Anne Puel, Mohammad Shahrooei, Andrea Finocchi, Paolo Rossi, Beatrice Rivalta, Cristina Cifaldi, Antonio Novelli, Chiara Passarelli, Stefania Arasi, Dominique M A Bullens, Kate Sauer, Tania Claeys, Catherine M Biggs, Emma Catherine Morris, Sergio D Rosenzweig, John J O'Shea, Wyeth W Wasserman, H Melanie Bedford, Clara D M van Karnebeek, Paolo Palma, Siobhan O Burns, Isabelle Meyts, Jean Laurent Casanova, Jonathan J Lyons, Nima Parvaneh, Anh Thi Van Nguyen, Caterina Cancrini, Jennifer Heimall, Hanan Ahmed, Margaret L McKinnon, Yu-Lung Lau, Vivien Béziat, Suzanne C Tough
Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease. The Journal of experimental medicine 220 (5) (2023)
Mehul Sharma, Daniel Leung, Mana Momenilandi, Lauren C W Jones, Lucia Pacillo, Alyssa E James, Jill R Murrell, Selket Delafontaine, Jesmeen Maimaris, Maryam Vaseghi-Shanjani, Kate L Del Bel, Henry Y Lu, Gilbert T Chua, Silvia Di Cesare, Oriol Fornes, Zhongyi Liu, Gigliola Di Matteo, Maggie P Fu, Donato Amodio, Issan Yee San Tam, Gavin Shueng Wai Chan, Ashish A Sharma, Joshua Dalmann, Robin van der Lee, Geraldine Blanchard-Rohner, Susan Lin, Quentin Philippot, Phillip Andrew Richmond, Jessica J Lee, Allison Matthews, Michael Seear, Alexandra K Turvey, Rachael L Philips, Terri F Brown-Whitehorn, Christopher J Gray, Kosuke Izumi, James R Treat, Kathleen H Wood, Justin Lack, Asya Khleborodova, Julie E Niemela, Xingtian Yang, Rui Liang, Lin Kui, Christina Sze-Man Wong, Grace Wing Kit Poon, Alexander Hoischen, Caspar I van der Made, Jing Yang, Koon Wing Chan, Jaime Sou Da Rosa Duque, Pamela Pui-Wah Lee, Marco Hok Kung Ho, Brian Hon-Yin Chung, Huong Thi Minh Le, Wanling Yang, Pejman Rohani, Ali Fouladvand, Hassan Rokni-Zadeh, Majid Changi-Ashtiani, Mohammad Miryounesi, Anne Puel, Mohammad Shahrooei, Andrea Finocchi, Paolo Rossi, Beatrice Rivalta, Cristina Cifaldi, Antonio Novelli, Chiara Passarelli, Stefania Arasi, Dominique M A Bullens, Kate Sauer, Tania Claeys, Catherine M Biggs, Emma Catherine Morris, Sergio D Rosenzweig, John J O'Shea, Wyeth W Wasserman, H Melanie Bedford, Clara D M van Karnebeek, Paolo Palma, Siobhan O Burns, Isabelle Meyts, Jean Laurent Casanova, Jonathan J Lyons, Nima Parvaneh, Anh Thi Van Nguyen, Caterina Cancrini, Jennifer Heimall, Hanan Ahmed, Margaret L McKinnon, Yu-Lung Lau, Vivien Béziat, Suzanne C Tough
Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease. The Journal of experimental medicine 220 (5) (2023)
Imke M E Schuurmans, Bianca Dimitrov, Julian Schröter, Antonia Ribes, Rubén Pérez de la Fuente, Berta Zamora, Clara D M van Karnebeek, Stefan Kölker, Alejandro Garanto
Exploring genotype-phenotype correlations in glutaric aciduria type 1. Journal of inherited metabolic disease (2023)
Ruben Zapata Perez, Ronald J A Wanders, Clara D M van Karnebeek, Riekelt H L Houtkooper
NAD+ homeostasis in human health and disease. EMBO molecular medicine 13 (7) (2021)
Eva M M Hoytema van Konijnenburg, Saskia B Wortmann, Marina J Koelewijn, Laura A Tseng, Roderick Houben, Sylvia Stöckler-Ipsiroglu, Carlos R Ferreira, Clara D M van Karnebeek
Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app. Orphanet journal of rare diseases 16 (1) (2021)
Clara D M van Karnebeek
The progressive intellectual and neurological deterioration study: a game changer. Developmental medicine and child neurology 63 (3) (2020)