Joseph T C Shieh (Joseph Shieh, Joseph T Shieh)

ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 21

Top Venues

American journal of medical genetics. Part A

NPJ genomic medicine

European journal of human genetics : EJHG

Genetics in medicine : official journal of the American College of Medical Genetics

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

Publications

Eva Vanbelleghem, Tim Van Damme, Aude Beyens, Sofie Symoens, Kathleen B M Claes, Julie De Backer, Ilse Meerschaut, Floris Vanommeslaeghe, Sigurd E Delanghe, Jenneke van den Ende, Tessi Beyltjens, Eleanor R Scimone, Mark E Lindsay, Lisa A Schimmenti, Alicia M Hinze, Emily Dunn, Natalia Gomez-Ospina, Isabelle Vandernoot, Thomas Delguste, Sandra Coppens, Valerie Cormier-Daire, Tartaglia Marco, Livia Garavelli, Joseph T C Shieh, Şenol Demir, Esra Arslan Ates, Martin Zenker, Mersedeh Rohanizadegan, Greysha Rivera-Cruz, Sofia Douzgou Houge, null null, Angela E Lin, Bert Callewaert
Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations. European journal of human genetics : EJHG 32 (9) (2024)
Eva Vanbelleghem, Tim Van Damme, Aude Beyens, Sofie Symoens, Kathleen B M Claes, Julie De Backer, Ilse Meerschaut, Floris Vanommeslaeghe, Sigurd E Delanghe, Jenneke van den Ende, Tessi Beyltjens, Eleanor R Scimone, Mark E Lindsay, Lisa A Schimmenti, Alicia M Hinze, Emily Dunn, Natalia Gomez-Ospina, Isabelle Vandernoot, Thomas Delguste, Sandra Coppens, Valerie Cormier-Daire, Tartaglia Marco, Livia Garavelli, Joseph T C Shieh, Şenol Demir, Esra Arslan Ates, Martin Zenker, Mersedeh Rohanizadegan, Greysha Rivera-Cruz, Sofia Douzgou Houge, null null, Angela E Lin, Bert Callewaert
Correction: Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations. European journal of human genetics : EJHG (2024)
Eva Vanbelleghem, Tim Van Damme, Aude Beyens, Sofie Symoens, Kathleen B M Claes, Julie De Backer, Ilse Meerschaut, Floris Vanommeslaeghe, Sigurd E Delanghe, Jenneke van den Ende, Tessi Beyltjens, Eleanor R Scimone, Mark E Lindsay, Lisa A Schimmenti, Alicia M Hinze, Emily Dunn, Natalia Gomez-Ospina, Isabelle Vandernoot, Thomas Delguste, Sandra Coppens, Valerie Cormier-Daire, Tartaglia Marco, Livia Garavelli, Joseph T C Shieh, Şenol Demir, Esra Arslan Ates, Martin Zenker, Mersedeh Rohanizadegan, Greysha Rivera-Cruz, Sofia Douzgou Houge, null null, Angela E Lin, Bert Callewaert
Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations. European journal of human genetics : EJHG (2024)
Anne Slavotinek, Shannon Rego, Nuriye Sahin-Hodoglugil, Mark Kvale, Billie Lianoglou, Tiffany Yip, Hannah Hoban, Simon Outram, Beatrice Anguiano, Flavia Chen, Jeremy Michelson, Roberta M Cilio, Cynthia Curry, Renata C Gallagher, Marisa Gardner, Rachel Kuperman, Bryce Mendelsohn, Elliott Sherr, Joseph T C Shieh, Jonathan Strober, Allison Tam, Jessica Tenney, William Weiss, Amy Whittle, Garrett Chin, Amanda Faubel, Hannah Prasad, Yusuph Mavura, Jessica Van Ziffle, W Patrick Devine, Ugur Hodoglugil, Pierre-Marie Martin, Teresa N Sparks, Barbara Koenig, Sara Ackerman, Neil Risch, Pui-Yan Kwok, Mary E Norton
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population. NPJ genomic medicine 8 (1) (2023)
Anne Slavotinek, Shannon Rego, Nuriye Sahin-Hodoglugil, Mark Kvale, Billie Lianoglou, Tiffany Yip, Hannah Hoban, Simon Outram, Beatrice Anguiano, Flavia Chen, Jeremy Michelson, Roberta M Cilio, Cynthia Curry, Renata C Gallagher, Marisa Gardner, Rachel Kuperman, Bryce Mendelsohn, Elliott Sherr, Joseph T C Shieh, Jonathan Strober, Allison Tam, Jessica Tenney, William Weiss, Amy Whittle, Garrett Chin, Amanda Faubel, Hannah Prasad, Yusuph Mavura, Jessica Van Ziffle, W Patrick Devine, Ugur Hodoglugil, Pierre-Marie Martin, Teresa N Sparks, Barbara Koenig, Sara Ackerman, Neil Risch, Pui-Yan Kwok, Mary E Norton
Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population. NPJ genomic medicine 8 (1) (2023)
Monica Penon-Portmann, Mohammad K Eldomery, Lorraine Potocki, Dana Marafi, Jennifer E Posey, Zeynep Coban-Akdemir, Tamar Harel, Christopher M Grochowski, Hailey Loucks, Walter Patrick Devine, Jessica Van Ziffle, Daniel A Doherty, James R. Lupski, Joseph T C Shieh
De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome. American journal of medical genetics. Part A 188 (8) (2022)
Schuyler Tong, W Patrick Devine, Joseph T C Shieh
Tumor and Constitutional Sequencing for Neurofibromatosis Type 1. JCO precision oncology 6 (2022)
Monica Penon-Portmann, Sarah K Westbury, Ling Li, Fred G Pluthero, Richard J Y Liu, Helen H Y Yao, Ryan S Q Geng, Neil Warner, Aleixo M Muise, Stephanie Lotz-Esquivel, Marianella Howell, Pablo Saborío-Chacon, Sara Fernández-Rojas, Manuel Saborio-Rocafort, Mildred Jiménez-Hernández, Carolina Wang-Zuniga, Walter Cartín-Sánchez, Joseph T C Shieh, Ramsés Badilla-Porras, Walter H A Kahr
Platelet VPS16B is dependent on VPS33B expression, as determined in two siblings with arthrogryposis, renal dysfunction, and cholestasis syndrome. Journal of thrombosis and haemostasis : JTH 20 (7) (2022)
David R Blair, Thomas J Hoffmann, Joseph T C Shieh
Common genetic variation associated with Mendelian disease severity revealed through cryptic phenotype analysis. Nature communications 13 (1) (2022)
Joseph T C Shieh, Monica Penon-Portmann, Karen H Y Wong, Michal Levy-Sakin, Michelle Verghese, Anne M Slavotinek, Renata C Gallagher, Bryce A Mendelsohn, Jessica Tenney, Daniah Beleford, Hazel Perry, Stephen K Chow, Andrew G Sharo, Steven E Brenner, Zhongxia Qi, Jingwei Yu, Ophir D Klein, David Martin, Pui-Yan Kwok, Dario Boffelli
Publisher Correction: Application of full-genome analysis to diagnose rare monogenic disorders. NPJ genomic medicine 6 (1) (2021)
Joseph T C Shieh, Monica Penon-Portmann, Karen H Y Wong, Michal Levy-Sakin, Michelle Verghese, Anne M Slavotinek, Renata C Gallagher, Bryce A Mendelsohn, Jessica Tenney, Daniah Beleford, Hazel Perry, Stephen K Chow, Andrew G Sharo, Steven E Brenner, Zhongxia Qi, Jingwei Yu, Ophir D Klein, David Martin, Pui-Yan Kwok, Dario Boffelli
Application of full-genome analysis to diagnose rare monogenic disorders. NPJ genomic medicine 6 (1) (2021)
Jirat Chenbhanich, Yan Hu, Steven Hetts, Daniel Cooke, Christopher Dowd, Patrick Devine, null null, Bianca E Russell, Sung Hae L Kang, Vivian Y Chang, Adib A Abla, Patricia Cornett, Iwei Yeh, Hane Lee, Julian A Martinez, Ilona J Frieden, Joseph T C Shieh
Segmental overgrowth and aneurysms due to mosaic PDGFRB p.(Tyr562Cys). American journal of medical genetics. Part A 185 (5) (2021)
Margot A Cousin, Blake A Creighton, Keith A Breau, Rebecca C Spillmann, Erin Torti, Sruthi Dontu, Swarnendu Tripathi, Deepa Ajit, Reginald J Edwards, Simone Afriyie, Julia C Bay, Kathryn M Harper, Alvaro A Beltran, Lorena J Munoz, Liset Falcon Rodriguez, Michael C Stankewich, Richard E Person, Yue Si, Elizabeth A Normand, Amy Blevins, Alison S May, Louise Bier, Vimla Aggarwal, Grazia M S Mancini, Marjon A van Slegtenhorst, Kirsten Cremer, Jessica Becker, Hartmut Engels, Stefan Aretz, Jennifer J MacKenzie, Eva Brilstra, Koen L I van Gassen, Richard H van Jaarsveld, Renske Oegema, Gretchen M Parsons, Paul Mark, Ingo Helbig, Sarah E McKeown, Robert Stratton, Benjamin Cogné, Bertrand Isidor, Pilar Cacheiro, Damian Smedley, Helen V Firth, Tatjana Bierhals, Katja Kloth, Deike Weiss, Cecilia Fairley, Joseph T C Shieh, Amy Kritzer, Parul Jayakar, Evangeline Kurtz-Nelson, Raphael A Bernier, Tianyun Wang, Evan E Eichler, Ingrid M B H van de Laar, Allyn McConkie-Rosell, Marie T McDonald, Jennifer Kemppainen, Brendan C Lanpher, Laura E Schultz-Rogers, Lauren B Gunderson, Pavel N Pichurin, Grace Yoon, Michael Zech, Robert Jech, Juliane Winkelmann, null null, null null, Adriana S Beltran, Michael T Zimmermann, Brenda Temple, Sheryl S Moy, Eric W Klee, Queenie K-G Tan, Damaris N Lorenzo
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome. Nature genetics 53 (7) (2021)
Bryce A Mendelsohn, Daniah T Beleford, Aya Abu-El-Haija, Norah S Alsaleh, Zuhair Rahbeeni, Pierre-Marie Martin, Shannon Rego, Alyssa Huang, Gina Capodanno, Joseph T C Shieh, Jessica Van Ziffle, Neil Risch, Fowzan Sami Alkuraya, Anne M Slavotinek
A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy. American journal of medical genetics. Part A 182 (3) (2019)
Akash Kumar, Diane B Zastrow, Elijah J Kravets, Daniah Beleford, Maura R Z Ruzhnikov, Megan E Grove, Annika M Dries, Jennefer N Carter, Daryl M Waggott, Yaping Yang, Yong Huang, null null, Katherine M Mackenzie, Christine M Eng, Paul Graham Fisher, Euan A Ashley, Joyce M Teng, David A Stevenson, Joseph T C Shieh, Matthew T Wheeler, Jonathan A Bernstein
Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review. American journal of medical genetics. Part A 179 (6) (2019)
Daniah T Beleford, Mohammad Diab, William F Qubty, Mary J Malloy, Roger K Long, Joseph T C Shieh
Schimke immunoosseous dysplasia and management considerations for vascular risks. American journal of medical genetics. Part A 179 (7) (2019)
Jiyoo Chang, Monica Penon-Portmann, Joseph T C Shieh
Optimizing genetics online resources for diverse readers. Genetics in medicine : official journal of the American College of Medical Genetics 22 (3) (2019)
Thoa K Ha, Anne H Mardy, Daniah Beleford, Andrew Spanier, Brette V Wayman, Monica Penon-Portmann, Arun P Wiita, Joseph T C Shieh
X-linked duplication copy number variation in a familial overgrowth condition. American journal of medical genetics. Part C, Seminars in medical genetics 181 (4) (2019)
Joseph T C Shieh
Emerging RAS superfamily conditions involving GTPase function. PLoS genetics 15 (2) (2019)
Monica Penon-Portmann, Jiyoo Chang, Mira Cheng, Joseph T C Shieh
Genetics workforce: distribution of genetics services and challenges to health care in California. Genetics in medicine : official journal of the American College of Medical Genetics 22 (1) (2019)
Monica Penon, Hengameh Zahed, Victoria Berger, Irene Su, Joseph T C Shieh
Using exome sequencing to decipher family history in a healthy individual: Comparison of pathogenic and population MTM1 variants. Molecular genetics & genomic medicine 6 (5) (2018)

Joseph T C Shieh.css-eqlu8i{font-size:small;padding-left:4px;} (Joseph Shieh, Joseph T Shieh)

Publication Activity (10 Years)

Top Topics

Top Venues

Joseph T C Shieh (Joseph Shieh, Joseph T Shieh)