Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES)

Autor: Gordon K C Leung, Christopher C Y Mak, Jasmine L F Fung, Wilfred H S Wong, Mandy H Y Tsang, Mullin H C Yu, Steven L C Pei, K S Yeung, Gary T K Mok, C P Lee, Amelia P W Hui, Mary H Y Tang, Kelvin Y K Chan, Anthony P Y Liu, Wanling Yang, P C Sham, Anita S Y Kan, Brian H Y Chung

Publikováno v: BMC Medical Genomics, Vol 11, Iss 1, Pp 1-10 (2018)

Abstract Background Whole-exome sequencing (WES) has become an invaluable tool for genetic diagnosis in paediatrics. However, it has not been widely adopted in the prenatal setting. This study evaluated the use of WES in prenatal genetic diagnosis in

Externí odkaz: https://doaj.org/article/282d5793434f48b0ae2433ea3829b919

Turner syndrome in diverse populations

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

Publikováno v: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Am J Med Genet A

Turner syndrome (TS) is a common multiple congenital anomaly syndrome resulting from complete or partial absence of the second X chromosome. TS presents with short stature, infertility secondary to ovarian dysgenesis, cardiac and renal anomalies, cha

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf516dfd88789c7ce7186e90a9e30000

Williams–Beuren syndrome in diverse populations

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

Publikováno v: American Journal of Medical Genetics Part A, 176(5), 1128-1136. Wiley-Liss Inc.
Kruszka, P, Porras, A R, de Souza, D H, Moresco, A, Huckstadt, V, Gill, A D, Boyle, A P, Hu, T, Addissie, Y A, Mok, G T K, Tekendo-Ngongang, C, Fieggen, K, Prijoles, E J, Tanpaiboon, P, Honey, E, Luk, H-M, Lo, I F M, Thong, M-K, Muthukumarasamy, P, Jones, K L, Belhassan, K, Ouldim, K, El Bouchikhi, I, Bouguenouch, L, Shukla, A, Girisha, K M, Sirisena, N D, Dissanayake, V H W, Paththinige, C S, Mishra, R, Kisling, M S, Ferreira, C R, de Herreros, M B, Lee, N-C, Jamuar, S S, Lai, A, Tan, E S, Ying Lim, J, Wen-Min, C B, Gupta, N, Lotz-Esquivel, S, Badilla-Porras, R, Hussen, D F, El Ruby, M O, Ashaat, E A, Patil, S J, Dowsett, L, Eaton, A, Innes, A M, Shotelersuk, V, Badoe, Ë, Wonkam, A, Obregon, M G, Chung, B H Y, Trubnykova, M, La Serna, J, Gallardo Jugo, B E, Chávez Pastor, M, Abarca Barriga, H H, Megarbane, A, Kozel, B A, van Haelst, M M, Stevenson, R E, Summar, M, Adeyemo, A A, Morris, C A, Moretti-Ferreira, D, Linguraru, M G & Muenke, M 2018, ' Williams-Beuren syndrome in diverse populations ', American Journal of Medical Genetics Part A, vol. 176, no. 5, pp. 1128-1136 . https://doi.org/10.1002/ajmg.a.38672

Williams-Beuren syndrome (WBS) is a common microdeletion syndrome characterized by a 1.5Mb deletion in 7q11.23. The phenotype of WBS has been well described in populations of European descent with not as much attention given to other ethnicities. In

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e32d4933dafcf00d120fc6f768507dad
https://doi.org/10.1002/ajmg.a.38672

Down syndrome in diverse populations

Autor: Marius George Linguraru, Vorasuk Shotelersuk, Brian H.Y. Chung, J. Joseph Brough, Angélica Moresco, Maximilian Muenke, Katherine L. Pardo, Christy A. N. Okoromah, Desmond Ikebudu, Omar A. Abdul-Rahman, Ogochukwu J. Sokunbi, Samantha La Qua, Gary T. K. Mok, María Gabriela Obregon, Yonit A. Addissie, Antonio R. Porras, Vajira H. W. Dissanayake, Breana Cham Wen Min, Meow-Keong Thong, Felicia Ikolo, Marshall L. Summar, Andrew K. Sobering, Ni-Chung Lee, Adebowale Adeyemo, Katta M. Girisha, Saumya Shekhar Jamuar, Leon Mutesa, Nnenna Kalu, C. Sampath Paththinige, Suma Ganesh, Antonio Richieri-Costa, Kelly L. Jones, Ivy Ng, Shailja Tibrewal, Nirmala D. Sirisena, Batriti Wallang, Premala Muthukumarasamy, Siddaramappa J. Patil, Annette Uwineza, Daniel Akinsanya Joseph, L. B. Lahiru Prabodha, Ekanem N. Ekure, Christopher Emeka Ugwu, Paul Kruszka

Publikováno v: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP

Down syndrome is the most common cause of cognitive impairment and presents clinically with universally recognizable signs and symptoms. In this study, we focus on exam findings and digital facial analysis technology in individuals with Down syndrome

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73223eb7072abe77d88d615b9e0146f8
https://doi.org/10.1002/ajmg.a.38043

CFTR founder mutation causes protein trafficking defects in Chinese patients with cystic fibrosis

Autor: Gary T. K. Mok, Huey-Yin Leong, Xin-Ying Chen, Brian H.Y. Chung, Wai-lap Lance Wong, Dingge Ying, Pak C. Sham, Winnie Peitee Ong, Jenna McLuskey, Yu-Lung Lau, Christy S. K. Chau, Weiyi Xu, Christopher C.Y. Mak, Yoyo W. Y. Chu, So Lun Lee, Wanling Yang, Kit San Yeung, Gordon K.C. Leung, Albert M. Li, Jeng-Haur Chen, Kelvin Y.K. Chan

Publikováno v: Molecular Genetics & Genomic Medicine

Background Cystic fibrosis (CF) is a rare condition in Asians. Since 1985, only about 30 Chinese patients have been reported with molecular confirmation. Method Using our in-house next-generation sequencing (NGS) pipeline for childhood bronchiectasis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48599326fcb1eb5c7a57642631265d2f
http://europepmc.org/articles/PMC5241212