O18: Addressing misattributed parentage discovered through trio-based genetic testing: Best practice guideline developed by multidisciplinary team at a pediatric hospital

Autor: Andrea Paras, Sarah Jurgensmeyer, Merlene Peter, Miguel Moran, Seema Shah, Sara Huston, Soo Shim, Katherine Kim

Publikováno v: Genetics in Medicine Open, Vol 2, Iss , Pp 101765- (2024)

Externí odkaz: https://doaj.org/article/38e6e4afafd44ab2a164f6cbb2c6a44c

P454: Investigating the efficacy of targeted NGS panels with rapid TAT for pediatric patients with narrow differential diagnoses

Autor: Andy Drackley, Pamela Rathbun, Alexander Ing, Alissa Wlodaver, Joshua Baker, Rachel Hickey, Merlene Peter, Anne McRae, Sarah Jurgensmeyer, Kai Lee Yap, Carlos Prada

Publikováno v: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100501- (2023)

Externí odkaz: https://doaj.org/article/25af213083c549efa6b4c8b41320e43f

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

Autor: Afshin Saffari, Tracy Lau, Homa Tajsharghi, Ehsan Ghayoor Karimiani, Ariana Kariminejad, Stephanie Efthymiou, Giovanni Zifarelli, Tipu Sultan, Mehran Beiraghi Toosi, Sahar Sedighzadeh, Victoria Mok Siu, Juan Darío Ortigoza-Escobar, Aisha M AlShamsi, Shahnaz Ibrahim, Nouriya Abbas Al-Sannaa, Walla Al-Hertani, Whalen Sandra, Mark Tarnopolsky, Shahryar Alavi, Chumei Li, Debra-Lynn Day-Salvatore, Maria Jesús Martínez-González, Kristin M Levandoski, Emma Bedoukian, Suneeta Madan-Khetarpal, Michaela J Idleburg, Minal Juliet Menezes, Aishwarya Siddharth, Konrad Platzer, Henry Oppermann, Martin Smitka, Felicity Collins, Monkol Lek, Mohmmad Shahrooei, Maryam Ghavideldarestani, Isabella Herman, John Rendu, Julien Faure, Janice Baker, Vikas Bhambhani, Laurel Calderwood, Javad Akhondian, Shima Imannezhad, Hanieh Sadat Mirzadeh, Narges Hashemi, Mohammad Doosti, Mojtaba Safi, Najmeh Ahangari, Paria Najarzadeh Torbati, Soheila Abedini, Vincenzo Salpietro, Elif Yilmaz Gulec, Safieh Eshaghian, Mohammadreza Ghazavi, Michael T Pascher, Marina Vogel, Angela Abicht, Sébastien Moutton, Ange-Line Bruel, Claudine Rieubland, Sabina Gallati, Tim M Strom, Hanns Lochmüller, Mohammad Hasan Mohammadi, Javeria Raza Alvi, Elaine H Zackai, Beth A Keena, Cara M Skraban, Seth I Berger, Erin H Andrew, Elham Rahimian, Michelle M Morrow, Ingrid M Wentzensen, Francisca Millan, Lindsay B Henderson, Hormos Salimi Dafsari, Heinz Jungbluth, Natalia Gomez-Ospina, Anne McRae, Merlene Peter, Danai Veltra, Nikolaos M Marinakis, Christalena Sofocleous, Farah Ashrafzadeh, Davut Pehlivan, Johannes R Lemke, Judith Melki, Audrey Benezit, Peter Bauer, Denisa Weis, James R Lupski, Jan Senderek, John Christodoulou, Wendy K Chung, Rose Goodchild, Amaka C Offiah, Andres Moreno-De-Luca, Mohnish Suri, Darius Ebrahimi-Fakhari, Henry Houlden, Reza Maroofian

Publikováno v: Saffari, Afshin; Lau, Tracy; Tajsharghi, Homa; Karimiani, Ehsan Ghayoor; Kariminejad, Ariana; Efthymiou, Stephanie; Zifarelli, Giovanni; Sultan, Tipu; Toosi, Mehran Beiraghi; Sedighzadeh, Sahar; Siu, Victoria Mok; Ortigoza-Escobar, Juan Darío; AlShamsi, Aisha M; Ibrahim, Shahnaz; Al-Sannaa, Nouriya Abbas; Al-Hertani, Walla; Sandra, Whalen; Tarnopolsky, Mark; Alavi, Shahryar; Li, Chumei; ... (2023). The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. (In Press). Brain : a journal of neurology Oxford University Press 10.1093/brain/awad039

In the field of rare diseases, progress in molecular diagnostics led to the recognition that variants linked to autosomal-dominant neurodegenerative diseases of later onset can, in the context of biallelic inheritance, cause devastating neurodevelopm

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b06949eaa976668e979bbd3a670e289
http://urn.kb.se/resolve?urn=urn:nbn:se:his:diva-22889

An overview of the reproductive system in mucopolysaccharidosis and case control study to identify menstrual and pregnancy complications in women with MPS

Autor: Merlene Peter, Stephanie Cagle

Publikováno v: Molecular Genetics and Metabolism. 129:S127-S128

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::118044749480dcbbe19e950190465bdf
https://doi.org/10.1016/j.ymgme.2019.11.333

Case control study to identify the prevalence of menstrual and pregnancy complications in women with mucopolysaccharidosis

Autor: Stephanie Cagle, Merlene Peter

Publikováno v: Molecular Genetics and Metabolism. 126:S116-S117

Mucopolysaccharidosis (MPS) are a group of inherited lysosomal storage disorders which are caused due to deficiencies in enzymes leading to accumulation of glycosaminoglycans. There is extensive literature available on the systemic impact of MPS. How

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::84a4d2f3f1d42b68fadede28468a0aba
https://doi.org/10.1016/j.ymgme.2018.12.296