Genomic Diagnosis for Pediatric Disorders: Revolution and Evolution

Autor: Emilie Lalonde, Stefan Rentas, Fumin Lin, Matthew C. Dulik, Cara M. Skraban, Nancy B. Spinner

Publikováno v: Frontiers in Pediatrics, Vol 8 (2020)

Powerful, recent advances in technologies to analyze the genome have had a profound impact on the practice of medical genetics, both in the laboratory and in the clinic. Increasing utilization of genome-wide testing such as chromosomal microarray ana

Externí odkaz: https://doaj.org/article/a283dd5f65dd4d69b2e9e2752c356bbd

Retrospective identification of patients with SRRM2 ‐related neurodevelopmental disorder in a single tertiary children's hospital

Autor: Kelly E. Regan‐Fendt, Alyssa L. Rippert, Livija Medne, Cara M. Skraban, Jeshua DeJesse, Christopher Gray, Sara L. Reichert, Nicholas P. Staropoli, Francis Jeshira Reynoso Santos, Ian D. Krantz, Jill R. Murrell, Kosuke Izumi

Publikováno v: American Journal of Medical Genetics Part A.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7b5fc8336175425d89d7331c57d41772
https://doi.org/10.1002/ajmg.a.63302

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

Expanding the phenotypic spectrum of Mendelian connective tissue disorders to include prominent kidney phenotypes

Autor: Kevin E.C. Meyers, Susan L. Furth, Sonya Lopez, Jessica Gold, Jacqueline Leonard, Elaine H. Zackai, Lauren Galea, Stacey Drant, Wendy Hsiao, Alanna Strong, Sandra Amaral, Nina B. Gold, Cara M. Skraban, Reed E. Pyeritz

Publikováno v: Am J Med Genet A

Heritable connective tissue disorders are a group of diseases, each rare, characterized by various combinations of skin, joint, musculoskeletal, organ, and vascular involvement. Although kidney abnormalities have been reported in some connective tiss

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6f36577b97694156ccd888e607eaefd
https://doi.org/10.1002/ajmg.a.62449

Ciliopathies: Coloring outside of the lines

Autor: Deborah Watson, Hakon Hakonarson, Alanna Strong, Joseph T. Glessner, Erum A. Hartung, Cara M. Skraban, Emma Bedoukian, Jessica Wen, Livija Medne, Ian D. Krantz, Kevin E.C. Meyers, Frank D. Mentch, Dong Li

Publikováno v: American Journal of Medical Genetics. Part a

Ciliopathy syndromes are a diverse spectrum of disease characterized by a combination of cystic kidney disease, hepatobiliary disease, retinopathy, skeletal dysplasia, developmental delay, and brain malformations. Though generally divided into distin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93096ba735abffd7e1a62ef04b40fbbd
https://doi.org/10.1002/ajmg.a.62013