Kosuke Izumi (K Izumi)

Publication Activity (10 Years)

Years Active: 2017-2023
Publications (10 Years): 18

Top Topics

Hypertrophic Cardiomyopathy

Gene Expression

Congenital Heart Disease

Top Venues

American journal of medical genetics. Part A

The Journal of experimental medicine

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)
Kelly E Regan-Fendt, Kosuke Izumi
Nuclear speckleopathies: developmental disorders caused by variants in genes encoding nuclear speckle proteins. Human genetics (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)
Yukiko Kuroda, Alyssa L Ritter, Sureni V Mullegama, Kosuke Izumi
Mosaic RAI1 variant in a Smith-Magenis syndrome patient with total anomalous pulmonary venous return. American journal of medical genetics. Part A 188 (10) (2022)
Alyssa L Ritter, Jacqueline Leonard, Christopher Gray, Kosuke Izumi, Katharine Levinson, Divya R Nair, Matthew O'Connor, Joseph Rossano, Venkat Shankar, Jessica Chowns, Amy Marzolf, Anjali Owens, Rebecca C Ahrens-Nicklas
MYH7 variants cause complex congenital heart disease. American journal of medical genetics. Part A 188 (9) (2022)
Amanda Barone Pritchard, Kosuke Izumi, Irma Payan-Walters, Marc Yudkoff, Elizabeth B Rand, Elizabeth Joyce Bhoj
Inborn error of metabolism patients after liver transplantation: Outcomes of 35 patients over 27 years in one pediatric quaternary hospital. American journal of medical genetics. Part A 188 (5) (2022)
Sarah E Sheppard, Ian M Campbell, Margaret H Harr, Nina B Gold, Dong Li, Hans T Bjornsson, Julie S Cohen, Jill A Fahrner, Ali Fatemi, Jacqueline R Harris, Catherine Nowak, Cathy A Stevens, Katheryn Grand, Margaret G Au, John M Graham, Pedro A Sanchez-Lara, Miguel Del Campo, Marilyn C Jones, Omar A Abdul-Rahman, Fowzan Sami Alkuraya, Jennifer A Bassetti, Katherine L Bergstrom, Elizabeth Joyce Bhoj, Sarah Dugan, Julie D Kaplan, Nada Derar, Karen W Gripp, Natalie S Hauser, A Micheil Innes, Beth Keena, Neslida Kodra, Rebecca Miller, Beverly Nelson, Malgorzata J Nowaczyk, Zuhair Rahbeeni, Shay Ben-Shachar, Joseph T Shieh, Anne Slavotinek, Andrew K Sobering, Mary-Alice Abbott, Dawn C Allain, Louise Amlie-Wolf, Ping Yee Billie Au, Emma C Bedoukian, Geoffrey Beek, James Barry, Janet Berg, Jonathan A Bernstein, Cheryl Cytrynbaum, Brian Hon-Yin Chung, Sarah Donoghue, Naghmeh Dorrani, Alison J Eaton, Josue A Flores-Daboub, Holly Dubbs, Carolyn A Felix, Chin-To Fong, Jasmine Lee Fong Fung, Balram Gangaram, Amy Goldstein, Rotem Greenberg, Thoa K Ha, Joseph Hersh, Kosuke Izumi, Staci Kallish, Elijah Kravets, Pui-Yan Kwok, Rebekah K Jobling, Amy E Knight Johnson, Jessica Kushner, Bo Hoon Lee, Brooke Levin, Kristin Lindstrom, Kandamurugu Manickam, Rebecca Mardach, Elizabeth McCormick, D Ross McLeod, Frank D Mentch, Kelly Minks, Colleen Muraresku, Stanley F Nelson, Patrizia Porazzi, Pavel N Pichurin, Nina N Powell-Hamilton, Zoe Powis, Alyssa L Ritter, Caleb Rogers, Luis Rohena, Carey Ronspies, Audrey Schroeder, Zornitza Stark, Lois Janelle Starr, Joan Stoler, Pim Suwannarat, Milen Velinov, Rosanna Weksberg, Yael Wilnai, Neda Zadeh, Dina J Zand, Marni J Falk, Hakon H Hakonarson, Elaine H Zackai, Fabiola Quintero-Rivera
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome. American journal of medical genetics. Part A 185 (6) (2021)
Smitha Kumble, Amanda M Levy, Jaya Punetha, Hua Gao, Nicholas Ah Mew, Kwame Anyane-Yeboa, Paul J Benke, Sara M Berger, Lise Bjerglund, Belinda Campos-Xavier, Michael Ciliberto, Julie S Cohen, Anne M Comi, Cynthia Curry, Lena Damaj, Anne Sophie Denommé-Pichon, Lisa Emrick, Laurence Faivre, Mary Beth Fasano, Alice Fiévet, Richard S Finkel, Sixto García-Miñaúr, Amanda Gerard, Paulino Gomez-Puertas, Maria J Guillen Sacoto, Trevor L Hoffman, Lillian Howard, Alejandro D Iglesias, Kosuke Izumi, Austin Larson, Anja Leiber, Reymundo Lozano, Iñigo Marcos-Alcalde, Cassie S Mintz, Sureni V Mullegama, Rikke S Møller, Sylvie Odent, Henry Oppermann, Elsebet Ostergaard, Marta Pacio-Míguez, Maria Palomares-Bralo, Sumit Parikh, Anna M Paulson, Konrad Platzer, Jennifer E Posey, Lorraine Potocki, Anya Revah-Politi, Marlene Rio, Alyssa L Ritter, Scott Robinson, Jill Anne Rosenfeld, Fernando Santos-Simarro, Sérgio B Sousa, Undiagnosed Diseases Network, Mathys Wéber, Yili Xie, Wendy K Chung, Natasha J Brown, Zeynep Tümer
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder. Human mutation (2021)
Alyssa L Ritter, Justin H Berger, Matthew Deardorff, Kosuke Izumi, Kimberly Y Lin, Livija Medne, Rebecca C Ahrens-Nicklas
Variants in NAA15 cause pediatric hypertrophic cardiomyopathy. American journal of medical genetics. Part A 185 (1) (2020)
Jennifer L Cohen, Samantha A Schrier Vergano, Sarah Mazzola, Alanna Strong, Beth Keena, Carey McDougall, Alyssa L Ritter, Dong Li, Emma C Bedoukian, Leah W Burke, Amber Hoffman, Victoria Zurcher, Ian D Krantz, Kosuke Izumi, Elizabeth Joyce Bhoj, Elaine H Zackai, Matthew A Deardorff
EP300-related Rubinstein-Taybi syndrome: Highlighted rare phenotypic findings and a genotype-phenotype meta-analysis of 74 patients. American journal of medical genetics. Part A 182 (12) (2020)
Sarah E Raible, Devanshi Mehta, Chiara Bettale, Sarah Fiordaliso, Maninder Kaur, Livija Medne, Marlene Rio, Eric Haan, Susan M White, Kristina Cusmano-Ozog, Eriko Nishi, Yiran Guo, Honglin Wu, Xiaoqing Shi, Qingjie Zhao, Xueqin Zhang, Qi Lei, Aimei Lu, Xiyu He, Nobuhiko Okamoto, Noriko Miyake, Joseph Piccione, Julian Allen, Naomichi Matsumoto, Mary Pipan, Ian D Krantz, Kosuke Izumi
Clinical and molecular spectrum of CHOPS syndrome. American journal of medical genetics. Part A 179 (7) (2019)
Emanuela Salzano, S E Raible, M Kaur, A Wilkens, G Sperti, R K Tilton, L R Bettini, A Rocca, G Cocchi, A Selicorni, L K Conlin, D McEldrew, R Gupta, S Thakur, Kosuke Izumi, I D Krantz
Prenatal profile of Pallister-Killian syndrome: Retrospective analysis of 114 pregnancies, literature review and approach to prenatal diagnosis. American journal of medical genetics. Part A 176 (12) (2018)
Hailey Pinz, Louise C Pyle, Dong Li, Kosuke Izumi, Cara Skraban, Jennifer Tarpinian, Stephen R Braddock, Aida Telegrafi, Kristin G Monaghan, Elaine Zackai, Elizabeth Joyce Bhoj
De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies. American journal of medical genetics. Part A 176 (4) (2018)
Alyssa L Ritter, Carey McDougall, Cara Skraban, Livija Medne, Emma C Bedoukian, Stephanie B Asher, Jorune Balciuniene, Colleen D Campbell, Samuel W Baker, Elizabeth H Denenberg, Sarah Mazzola, Sarah K Fiordaliso, Ian D Krantz, Paige Kaplan, Lynne Ierardi-Curto, Avni B Santani, Elaine H Zackai, Kosuke Izumi
Variable Clinical Manifestations of Xia-Gibbs syndrome: Findings of Consecutively Identified Cases at a Single Children's Hospital. American journal of medical genetics. Part A 176 (9) (2018)
Aiko Iwata-Otsubo, Alyssa L Ritter, Brooke Weckselbatt, Nicole R Ryan, David Burgess, Laura K Conlin, Kosuke Izumi
DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia. American journal of medical genetics. Part A 176 (1) (2017)