檢索結果 - Saumya Shekhar Jamuar

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  1. 1
    Clinical application of next-generation sequencing for Mendelian diseases

    Clinical application of next-generation sequencing for Mendelian diseases 由 Saumya Shekhar Jamuar, Ene‐Choo Tan

    出版 2015
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  2. 2
    Genomic Variants and Variations in Malformations of Cortical Development

    Genomic Variants and Variations in Malformations of Cortical Development 由 Saumya Shekhar Jamuar, Christopher A. Walsh

    出版 2015
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  3. 3
    Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms

    Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms 由 Alissa M. D’Gama, Sirisha Pochareddy, Mingfeng Li, Saumya Shekhar Jamuar, Rachel E. Reiff, Anh-Thu N. Lam, Nenad Šestan, Christopher A. Walsh

    出版 2015
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  4. 4
    Addressing diagnostic gaps and priorities of the global rare diseases community: Recommendations from the IRDiRC diagnostics scientific committee

    Addressing diagnostic gaps and priorities of the global rare diseases community: Recommendations from the IRDiRC diagnostics scientific committee 由 David R. Adams, Clara D. van Karnebeek, Sergi Beltrán, Víctor Faúndes, Saumya Shekhar Jamuar, Sally Ann Lynch, Guillem Pintos‐Morell, Ratna Dua Puri, Ruty Mehrian‐Shai, Charles A. Steward, Birutė Tumienė, Alain Verloès

    出版 2024
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  5. 5
    Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing

    Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing 由 Elaine Chen, Flavia M. Facio, Kerry Aradhya, Susan Rojahn, Kathryn E. Hatchell, Sienna Aguilar, Karen Ouyang, Sulagna C. Saitta, Andrea K. Hanson-Kwan, Nicole Nakousi‐Capurro, Eriko Takamine, Saumya Shekhar Jamuar, Dianalee McKnight, Britt Johnson, Swaroop Aradhya

    出版 2023
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  6. 6
    Global health for rare diseases through primary care

    Global health for rare diseases through primary care 由 Gareth Baynam, Adam L. Hartman, Mary Catherine V. Letinturier, Matt Bolz-Johnson, Prescilla Carrion, Alice Chen Grady, Xinran Dong, Marc Dooms, Lauren Dreyer, Holm Graeßner, Alı́cia Granados, Tudor Groza, Elisa J. F. Houwink, Saumya Shekhar Jamuar, Tania Vásquez‐Loarte, Birutė Tumienė, Samuel Agyei Wiafe, Heidi Bjornson-Pennell, Stephen C. Groft

    出版 2024
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  7. 7
    <i>DCC</i>mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome

    <i>DCC</i>mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome 由 Ashley P.L. Marsh, Timothy J. Edwards, Charles A. Galea, Helen Cooper, Elizabeth C. Engle, Saumya Shekhar Jamuar, Aurélie Méneret, Marie‐Laure Moutard, Caroline Nava, Agnès Rastetter, Gail Robinson, Guy A. Rouleau, Emmanuel Roze, Megan Spencer‐Smith, Oriane Trouillard, Thierry Billette de Villemeur, Christopher A. Walsh, Timothy W. Yu, Delphine Héron, Elliott H. Sherr, Linda J. Richards, Christel Depienne, Richard J. Leventer, Paul J. Lockhart

    出版 2017
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  8. 8
    Biallelic mutations in human DCC cause developmental split-brain syndrome

    Biallelic mutations in human DCC cause developmental split-brain syndrome 由 Saumya Shekhar Jamuar, Klaus Schmitz‐Abe, Alissa M. D’Gama, Marie Drottar, Wai‐Man Chan, Maya Peeva, Sarah Servattalab, Anh-Thu N. Lam, Mauricio R. Delgado, Nancy J. Clegg, Zayed Al Zayed, Mohammad Asif Dogar, Ibrahim A. Alorainy, Abdullah Abu Jamea, Khaled K. Abu‐Amero, May L. Griebel, Wendy L. Ward, Ed S. Lein, Kyriacos Markianos, A. James Barkovich, Caroline D. Robson, P. Ellen Grant, Thomas M. Bosley, Elizabeth C. Engle, Christopher A. Walsh, Timothy W. Yu

    出版 2017
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  9. 9
    Somatic Mutations in Cerebral Cortical Malformations

    Somatic Mutations in Cerebral Cortical Malformations 由 Saumya Shekhar Jamuar, Anh-Thu N. Lam, Martin Kircher, Alissa M. D’Gama, Jian Wang, Brenda J. Barry, Xiaochang Zhang, Robert Hill, Jennifer N. Partlow, Aldo Rozzo, Sarah Servattalab, Bhaven K. Mehta, Meral Topçu, Dina Amrom, Eva Andermann, Bernard Dan, Elena Parrini, Renzo Guerrini, Ingrid E. Scheffer, Samuel F. Berkovic, Richard J. Leventer, Yiping Shen, Bai Lin Wu, A. James Barkovich, Mustafa Şahin, Bernard S. Chang, Michael J. Bamshad, Deborah A. Nickerson, Jay Shendure, Annapurna Poduri, Timothy W. Yu, Christopher A. Walsh

    出版 2014
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  10. 10
    KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis

    KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis 由 Lucie Gueneau, Richard J. Fish, Hanan E. Shamseldin, Norine Voisin, Frédéric Tran Mau‐Them, Eglė Preikšaitienė, Glen R. Monroe, Angeline Lai, Audrey Putoux, Fabienne Allias, Qamariya Ambusaidi, Laima Ambrozaitytė, Loreta Cimbalistienė, Julien Delafontaine, Nicolas Guex, Mais Hashem, Wesam Kurdi, Saumya Shekhar Jamuar, Lim Jiin Ying, Carine Bonnard, Tommaso Pippucci, Sylvain Pradervand, Bernd Roechert, Peter M. van Hasselt, Michael R. Wiederkehr, Caroline F. Wright, Ioannis Xénarios, Gijs van Haaften, Charles Shaw‐Smith, Erica Schindewolf, Marguerite Neerman‐Arbez, Damien Sanlaville, Gaëtan Lesca, Laurent Guibaud, Bruno Reversade, Jamel Chelly, Vaidutis Kučinskas, Fowzan S. Alkuraya, Alexandre Reymond

    出版 2017
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  11. 11
    Genetic Studies of Hypertrophic Cardiomyopathy in Singaporeans Identify Variants in <i>TNNI3</i> and <i>TNNT2</i> That Are Common in Chinese Patients

    Genetic Studies of Hypertrophic Cardiomyopathy in Singaporeans Identify Variants in <i>TNNI3</i> and <i>TNNT2</i> That Are Common in Chinese Patients 由 Chee Jian Pua, Nevin Tham, Calvin Chin, Roddy Walsh, Chiea Chuen Khor, Christopher N. Toepfer, Giuliana G. Repetti, Amanda C. Garfinkel, Jourdan K. Ewoldt, Paige E. Cloonan, Christopher S. Chen, Shi Qi Lim, Jiashen Cai, Li Yang Loo, Siew Ching Kong, Charleston W. K. Chiang, Nicola Whiffin, Antonio de Marvao, Pei Min Lio, An An Hii, Cheng Xi Yang, Thu Thao Le, Yasmin Bylstra, Weng Khong Lim, Jing Xian Teo, Kallyandra Padilha, Gabriela V. Silva, Bangfen Pan, Risha Govind, Rachel Buchan, Paul J.R. Barton, Patrick Tan, Roger Foo, James Yip, Raymond Wong, Wan Xian Chan, Alexandre C. Pereira, Hak Chiaw Tang, Saumya Shekhar Jamuar, James S. Ware, Jonathan G. Seidman, Christine E. Seidman, Stuart A. Cook

    出版 2020
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  12. 12
    Turner syndrome in diverse populations

    Turner syndrome in diverse populations 由 Paul Kruszka, Yonit A. Addissie, Cedrik Tekendo‐Ngongang, Kelly L. Jones, Sarah Savage, Neerja Gupta, Nirmala D. Sirisena, Vajira H. W. Dissanayake, C. S. Paththinige, Teresa Aravena, Sheela Nampoothiri, Dhanya Yesodharan, Katta M. Girisha, Siddaramappa J. Patil, Saumya Shekhar Jamuar, Jasmine Chew‐Yin Goh, Agustini Utari, Nydia Rena Benita Sihombing, Rupesh Mishra, Neer Shoba Chitrakar, Brenda C. Iriele, Ezana Lulseged, André Mégarbané, Annette Uwineza, Elizabeth Eberechi Oyenusi, Oluwarotimi Olopade, O.A Fasanmade, Milagros Dueñas, Meow‐Keong Thong, Joanna Y.L. Tung, Gary Mok, Nicole Fleischer, Godfrey Mutashambara Rwegerera, María Beatriz de Herreros, Johnathan Watts, Karen Fieggen, Victoria Huckstadt, Angélica Moresco, María Gabriela Obregón, Dalia Farouk, Neveen A. Ashaat, Engy A. Ashaat, Brian Hon‐Yin Chung, Ëben Badoe, Sultana MH Faradz, Mona O. El Ruby, Vorasuk Shotelersuk, Ambroise Wonkam, Ekanem N. Ekure, Shubha R. Phadke, Antônio Richieri‐Costa, Maximilian Muenke

    出版 2019
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  13. 13
    The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships

    The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships 由 Eleanor C Broeren, Vanessa Gitau, Alicia B. Byrne, Pamela Ajuyah, Marie Balzotti, Jonathan S. Berg, Krista Bluske, B.M. Bowen, Matthew P. Brown, Amanda Buchanan, Brendan Burns, Nicole Burns, Anjana Chandrasekhar, Aditi Chawla, Jessica X. Chong, Maya Chopra, Amanda Clause, Marina T. DiStefano, Stephanie DiTroia, Marwa Elnagheeb, Anne Girod, Himanshu Goel, Katie Golden‐Grant, Thuong Ha, Ada Hamosh, Jennifer Huang, Madeline Y. Hughes, Saumya Shekhar Jamuar, Sylvia Kam, Akanchha Kesari, Ai Ling Koh, Rhonda N.T. Lassiter, S. E. A. Leigh, Gabrielle Lemire, Jiin Ying Lim, Alka Malhotra, Hannah McCurry, Becky Milewski, Shahida Moosa, Stephen A. Murray, Emma Owens, Elizabeth E. Palmer, Brooke Palus, Mayher Patel, Revathi Rajkumar, Julie Ratliff, F. Lucy Raymond, Bruno Della Ripa Rodrigues Assis, Samin A. Sajan, Zinayida Schlachetzki, Sarah Schmidt, Zornitza Stark, Strom P Samuel, Julie P. Taylor, Courtney Thaxton, Devon Lamb Thrush, Sabrina Toro, Kezang Tshering, Nicole Vasilevsky, Bess Wayburn, Ryan Webb, Anne O’Donnell‐Luria, Alison J. Coffey

    出版 2024
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  14. 14
    The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships

    The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships 由 Eleanor C Broeren, Vanessa Gitau, Alicia B. Byrne, Pamela Ajuyah, Marie Balzotti, Jonathan S. Berg, Krista Bluske, B.M. Bowen, Matthew P. Brown, Amanda Buchanan, Brendan Burns, Nicole Burns, Anjana Chandrasekhar, Aditi Chawla, Jessica X. Chong, Maya Chopra, Amanda Clause, Marina T. DiStefano, Stephanie DiTroia, Marwa Elnagheeb, Anne Girod, Himanshu Goel, Katie Golden‐Grant, Thuong Ha, Ada Hamosh, Jennifer M. Huang, Madeline Y. Hughes, Saumya Shekhar Jamuar, Sylvia Kam, Akanchha Kesari, Ai Ling Koh, Rhonda N.T. Lassiter, S. E. A. Leigh, Gabrielle Lemire, Jiin Ying Lim, Alka Malhotra, Hannah McCurry, Becky Milewski, Shahida Moosa, Stephen A. Murray, Emma Owens, Elizabeth E. Palmer, Brooke C. Palus, Mayher Patel, Revathi Rajkumar, Julie Ratliff, F. Lucy Raymond, Bruno Della Ripa Rodrigues Assis, Samin A. Sajan, Zinayida Schlachetzki, Sarah Schmidt, Zornitza Stark, Samuel P. Strom, Julie P. Taylor, Courtney Thaxton, Devon Lamb Thrush, Sabrina Toro, Kezang Tshering, Nicole Vasilevsky, Bess Wayburn, Ryan Webb, Anne O’Donnell‐Luria, Alison J. Coffey

    出版 2025
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  15. 15
    Williams–Beuren syndrome in diverse populations

    Williams–Beuren syndrome in diverse populations 由 Paul Kruszka, Antonio R. Porras, Deise Helena de Souza, Angélica Moresco, Victoria Huckstadt, Ashleigh D. Gill, Alec P. Boyle, Tommy Hu, Yonit A. Addissie, Gary Mok, Cedrik Tekendo‐Ngongang, Karen Fieggen, Eloise J. Prijoles, Pranoot Tanpaiboon, Engela Honey, Ho‐Ming Luk, Ivan F. M. Lo, Meow‐Keong Thong, Premala Muthukumarasamy, Kelly L. Jones, Khadija Belhassan, Karim Ouldim, Ihssane El Bouchikhi, Laila Bouguenouch, Anju Shukla, Katta M. Girisha, Nirmala D. Sirisena, Vajira H. W. Dissanayake, C. S. Paththinige, Rupesh Mishra, Monisha S. Kisling, Carlos R. Ferreira, María Beatriz de Herreros, Ni‐Chung Lee, Saumya Shekhar Jamuar, Angeline Lai, Ee Shien Tan, Jiin Ying Lim, Cham Breana Wen‐Min, Neerja Gupta, Stephanie Lotz‐Esquivel, Ramsés Badilla‐Porras, Dalia Farouk, Mona O. El Ruby, Engy A. Ashaat, Siddaramappa J. Patil, Leah Dowsett, Alison Eaton, A. Micheil Innes, Vorasuk Shotelersuk, Ëben Badoe, Ambroise Wonkam, María Gabriela Obregón, Brian Hon‐Yin Chung, Milana Trubnykova, Jorge La Serna, Bertha Elena Gallardo Jugo, Miguel Chávez Pastor, Hugo Hernán Abarca-Barriga, André Mégarbané, Beth A. Kozel, Mieke M. van Haelst, Roger E. Stevenson, Marshall Summar, Adebowale Adeyemo, Colleen A. Morris, Danilo Moretti‐Ferreira, Marius George Linguraru, Maximilian Muenke

    出版 2018
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  16. 16
    Cover Image, Volume 176A, Number 5, May 2018

    Cover Image, Volume 176A, Number 5, May 2018 由 Paul Kruszka, Antonio R. Porras, Deise Helena de Souza, Angélica Moresco, Victoria Huckstadt, Ashleigh D. Gill, Alec P. Boyle, Tommy Hu, Yonit A. Addissie, Gary Tsz Kin Mok, Cedrik Tekendo‐Ngongang, Karen Fieggen, Eloise J. Prijoles, Pranoot Tanpaiboon, Engela Honey, Ho‐Ming Luk, Ivan F. M. Lo, Meow‐Keong Thong, Premala Muthukumarasamy, Kelly L. Jones, Khadija Belhassan, Karim Ouldim, Ihssane El Bouchikhi, Laila Bouguenouch, Anju Shukla, Katta M. Girisha, Nirmala D. Sirisena, Vajira H. W. Dissanayake, C. S. Paththinige, Rupesh Mishra, Monisha S. Kisling, Carlos R. Ferreira, María Beatriz de Herreros, Ni‐Chung Lee, Saumya Shekhar Jamuar, Angeline Lai, Ee Shien Tan, Jiin Ying Lim, Cham Breana Wen‐Min, Neerja Gupta, Stephanie Lotz‐Esquivel, Ramsés Badilla‐Porras, Dalia Farouk, Mona O. El Ruby, Engy A. Ashaat, Siddaramappa J. Patil, Leah Dowsett, Alison Eaton, A. Micheil Innes, Vorasuk Shotelersuk, Ëben Badoe, Ambroise Wonkam, María Gabriela Obregón, Brian Hon‐Yin Chung, Milana Trubnykova, Jorge La Serna, Bertha Elena Gallardo Jugo, Miguel Chávez Pastor, Hugo Hernán Abarca-Barriga, André Mégarbané, Beth A. Kozel, Mieke M. van Haelst, Roger E. Stevenson, Marshall Summar, Adebowale Adeyemo, Colleen A. Morris, Danilo Moretti‐Ferreira, Marius George Linguraru, Maximilian Muenke

    出版 2018
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  17. 17
    Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

    Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy 由 Holger Hengel, Célia Bosso-Lefèvre, George Grady, Emmanuelle Szenker‐Ravi, Hankun Li, Sarah B. Pierce, Élise Lebigot, Thong-Teck Tan, Michelle Eio, Gunaseelan Narayanan, Kagistia Hana Utami, Monica Yau, Nader Handal, Werner Deigendesch, Reinhard Keimer, Hiyam Marzouqa, Meral Gunay‐Aygun, Michael Muriello, Hélène Verhelst, Sarah Weckhuysen, Sonal Mahida, Sakkubai Naidu, Terrence Thomas, Jiin Ying Lim, Ee Shien Tan, Damien Haye, Michèl A.A.P. Willemsen, Renske Oegema, Wendy G. Mitchell, Tyler Mark Pierson, Marisa V. Andrews, Marcia Willing, Lance H. Rodan, Tahsin Stefan Barakat, Marjon van Slegtenhorst, Ralitza H. Gavrilova, Diego Martinelli, Tal Gilboa, Abdullah Tamim, Mais Hashem, Moeenaldeen AlSayed, Maha Abdulrahim, Mohammed Al‐Owain, Ali Awaji, Adel Mahmoud, Eissa Faqeih, Ali Al Asmari, Sulwan Algain, Lamyaa Jad, Hesham Aldhalaan, Ingo Helbig, David A. Koolen, Angelika Rieß, Ingeborg Kraegeloh‐Mann, Peter Bauer, Süleyman Gülsüner, Hannah Stamberger, Alvin Yu Jin Ng, Sha Tang, Sumanty Tohari, Boris Keren, Laura Schultz‐Rogers, Eric W. Klee, Sabina Barresi, Marco Tartaglia, Hagar Mor‐Shaked, Sateesh Maddirevula, Amber Begtrup, Aida Telegrafi, Rolph Pfundt, Rebecca Schüle, Brian Ciruna, Carine Bonnard, Mahmoud A. Pouladi, James Stewart, Adam Claridge‐Chang, Dirk J. Lefeber, Fowzan S. Alkuraya, Ajay S. Mathuru, Byrappa Venkatesh, Joseph Barycki, Melanie A. Simpson, Saumya Shekhar Jamuar, Lüdger Schöls, Bruno Reversade

    出版 2020
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  18. 18
    Analysis of clinically relevant variants from ancestrally diverse Asian genomes

    Analysis of clinically relevant variants from ancestrally diverse Asian genomes 由 Sock Hoai Chan, Yasmin Bylstra, Jing Xian Teo, Jyn Ling Kuan, Nicolas Bertin, Mar González-Porta, Maxime Hebrard, Roberto Tirado-Magallanes, Joanna Tan, Justin Jeyakani, Zhihui Li, Jin Fang Chai, Yap Seng Chong, Sonia Dávila, Liuh Ling Goh, Eng Sing Lee, Eleanor Wong, Tien Yin Wong, Tin Aung, Kenneth Ban, Claire Bellis, Miao Li Chee, Miao Ling Chee, Wen Jie Chew, Calvin Chin, Stuart A. Cook, Rinkoo Dalan, Rajkumar Dorajoo, Chester L. Drum, Paul Elliott, Johan G. Eriksson, Roger Foo, Daphne Gardner, Peter D. Gluckman, Denise Li Meng Goh, Kanika Jain, Sylvia Kam, Irfahan Kassam, Lakshmi Narayanan Lakshmanan, Caroline Lee, Jimmy Lee, Soo Chin Lee, Yung Seng Lee, Hengtong Li, Chia Wei Lim, Tock Han Lim, Marie Loh, Sebastian Maurer‐Stroh, Theresia Mina, Shi Qi Mok, Hong Kiat Ng, Chee Jian Pua, Elio Ríboli, Tyler Hyungtaek Rim, Charumathi Sabanayagam, Wey Cheng Sim, Tavintharan Subramaniam, Ee Shien Tan, Eng King Tan, Erwin Tantoso, Darwin Tay, Yik Ying Teo, Yih‐Chung Tham, Li-xian Grace Toh, Pi Kuang Tsai, Rob M. van Dam, Lavanya Veeravalli, Gervais Wansaicheong Khin-lin, Andreas Wilm, Chengxi Yang, Fabian Yap, Yik Weng Yew, Shyam Prabhakar, Jianjun Liu, Ching‐Yu Cheng, Birgit Eisenhaber, Neerja Karnani, Khai Pang Leong, Xueling Sim, Khung Keong Yeo, John C. Chambers, E Shyong Tai, Patrick Tan, Saumya Shekhar Jamuar, Joanne Ngeow, Weng Khong Lim

    出版 2022
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