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Clinical and genetic spectrum of Fanconi anemia in Australia and New Zealand
Fluhler, Hannah, Granger, Elissah, Sharp, Michael, Harris, Caitlin, Mckinley, Mark, Riyat, Sarbjit, Krieg, Christine, Deans, Andrew, Fraser, Chris, Cross, Siobhan, Carter, Tina, Worgan, Lisa, Nelson, Adam, Fox, Lucy C., Nicholl, Jillian, Attwood, Alison, McLeman, Lorna, Hughes, David, Conyers, Rachel, Kujan, Omar, Velleuer-Carlberg, Eunike, Nandini, Adayapalam, Crismani, Wayne
Published in Genetics in Medicine Open (01.08.2025)
Published in Genetics in Medicine Open (01.08.2025)
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Study Design with Responsible Return of Results for a Fully Remote Genome Sequencing Study in Individuals with Prader-Willi Syndrome
Vrana-Diaz, Caroline J., Bohonowych, Jessica, Richards, Jaimie L., Wilk, Brandon M., Gajapathy, Manavalan, Bar-Peled, Yael, Harris, Anna C., Denton, Jessica J., Brown, Donna, Worthey, Elizabeth A., Strong, Theresa V.
Published in Genetics in Medicine Open (01.08.2025)
Published in Genetics in Medicine Open (01.08.2025)
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Trio exome analysis is a valuable tool for genetic diagnosis of epilepsy in Mali
Bamba, Salia, Jeffries, Lauren, Diarra, Salimata, Nimaga, Karamoko, Touré, Amadou, Goita, Modibo K., Diallo, Seybou H., Ji, Weizhen, Maiga, Alassane Baneye, Traoré, Oumou, Doumbia, Moussa, Koné, Adama, Sanni, Koudoussou Olaréwadjou, Camara, Ahmed, Cissé, Mohamed A., Kane, Ramatoulaye, Nimaga, Ibrahim, Traoré, Mamadou, Cissé, Lassana, Yalcouyé, Abdoulaye, Abdel kader Cissé, Cheick, Mefoung, Samuel Ephrata, Sangaré, Moussa, Kotioumbé, Mahamadou, Touré, Aissata S., Dembélé, Mohamed Emile, Mis, Emily K., Guinto, Cheick Oumar, Samassékou, Oumar, Traoré, Mahamadou, Khokha, Mustafa K., Landouré, Guida, Lakhani, Saquib A.
Published in Genetics in Medicine Open (01.08.2025)
Published in Genetics in Medicine Open (01.08.2025)
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Assessing completeness of cancer family history in EHRs using genetically-defined kinships: a cross-sectional study
Kiser, Daniel, MS, Elhanan, Gai, MD, Schlauch, Karen A., PhD, Read, Robert, MS, Grzymski, Joseph J., PhD
Published in Genetics in Medicine Open (01.08.2025)
Published in Genetics in Medicine Open (01.08.2025)
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Framework for Standardized Genetic Testing Recommendations for Chronic Kidney Disease in Ontario
Du, Angela, Lemay, Kaitlyn, Bagga, Amit, Bhola, Priya T., Brown, Pierre Antoine, Colaiacovo, Samantha, Charames, George S., Lemaire, Mathieu, Lanktree, Matthew B., Schenkel, Laila, Peña, Luis G., Riddell, Samantha, Watkins, Nicholas, Young, Ted, Yu, Wilson, Bell, Kathleen, Kim, Raymond H., Connaughton, Dervla M., Connaughton, Dervla, Garland, Jocelyn, Lanktree, Matthew, Bhola, Priya, Staff, Ontario Health, Kim, Raymond, Aden, Muna, Guerin, Andrea
Published in Genetics in Medicine Open (01.07.2025)
Published in Genetics in Medicine Open (01.07.2025)
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Updated ACMG/AMP specifications for variant interpretation and gene curations from the ClinGen RASopathy expert panels
Wilcox, Emma H., Webb, Ryan F., Tshering, Kezang C., Hughes, Madeline Y., Cavé, Hélène, DiStefano, Marina T., Dziadzio, Hannah, Garber, Kate, Gelb, Bruce D., Gripp, Karen W., Ichikawa, Shoji, Lee, Jennifer A., McCurry, Hannah, Tartaglia, Marco, Williams, Bradley, Zenker, Martin, Vincent, Lisa M., Mason-Suares, Heather, Williams, Bradley, Gelb, Bruce, Dziadzio, Hannah, Mason-Suares, Heather, Cavé, Hélène, Lee, Jennifer, Gripp, Karen, Lafferty, Kat, Tshering, Kezang, Vincent, Lisa, Gomez, Luis Enrique, Tartaglia, Marco, DiStefano, Marina, Zenker, Martin, Ahmadian, Reza, Webb, Ryan, Ichikawa, Shoji
Published in Genetics in Medicine Open (01.01.2025)
Published in Genetics in Medicine Open (01.01.2025)
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Genetic and functional characterization of inherited complex chromosomal rearrangements in a family with multisystem anomalies
Fang, He, Eacker, Stephen M., Wu, Yu, Neufeld-Kaiser, Whitney, Laurino, Mercy, Keel, Siobán, Horwitz, Marshall S., Liu, Yajuan J.
Published in Genetics in Medicine Open (01.01.2025)
Published in Genetics in Medicine Open (01.01.2025)
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Biallelic SLC13A1 loss-of-function variants result in impaired sulfate transport and skeletal phenotypes, including short stature, scoliosis, and skeletal dysplasia
Tise, Christina G., Ashton, Katie, de Hayr, Lachlan, Lee, Kun-Di, Patkar, Omkar L., Krzesinski, Emma, Bassetti, Jennifer A., Carter, Erin M., Raggio, Cathleen, Zankl, Andreas, Khanshour, Anas M., Atala, Kristhen N., Rios, Jonathan J., Wise, Carol A., Zhu, Ying, Zhang, Futao, Roscioli, Tony, Buckley, Michael, Harvey, Robert J., Dawson, Paul A.
Published in Genetics in Medicine Open (2025)
Published in Genetics in Medicine Open (2025)
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Genetics Adviser: The development and usability testing of a new patient digital health application to support clinical genomic testing
Clausen, Marc, Krishnapillai, Suvetha, Hirjikaka, Daena, Kodida, Rita, Shickh, Salma, Reble, Emma, Mighton, Chloe, Sam, Jordan, Adi-Wauran, Ella, Baxter, Nancy N., Feldman, Geoff, Glogowski, Emily, Lerner-Ellis, Jordan, Scheer, Adena, Shastri-Estrada, Serena, Shuman, Cheryl, Armel, Susan Randall, Aronson, Melyssa, Graham, Tracy, Panchal, Seema, Thorpe, Kevin E., Carroll, June C., Eisen, Andrea, Elser, Christine, Kim, Raymond H., Faghfoury, Hanna, Schrader, Kasmintan A., Seto, Emily, Bombard, Yvonne
Published in Genetics in Medicine Open (01.01.2024)
Published in Genetics in Medicine Open (01.01.2024)
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P588: Comparison of high polygenic risk score for hypercholesterolemia and familial hypercholesterolemia risk in the eMERGE IV study
Marathe, Priya, Suckiel, Sabrina, Scarimbolo, Laura, Hanks, Sarah, Odgis, Jacqueline, Bonini, Katherine, Soper, Emily, Nirenberg, Sharon, Gallagher, Emily, Kontorovich, Amy, Murray, Michael, Kenny, Eimear, Abul-Husn, Noura
Published in Genetics in Medicine Open (2025)
Published in Genetics in Medicine Open (2025)
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O07: Global collaboration in childhood cancer gene curation: Formation of the ClinGen Childhood, Adolescent, and Young Adult Cancer Predisposition GCEP
Robertson, Pamela Ajuyah, Paris, Kelley, Bolanos, Noemi Fuentes, Villani, Anita, Porter, Christopher
Published in Genetics in Medicine Open (2025)
Published in Genetics in Medicine Open (2025)
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P655: Improved representation of functional data in ClinVar
Landrum, Melissa, Kaur, Kuljeet, Chitipiralla, Shanmuga, Song, Guangfeng, Liu, Chunlei, Maddipatla, Zenith, Brown, Garth, Chen, Chao, Hart, Jennifer, Hoffman, Douglas, Jang, Wonhee, Maiti, Rama, Mitchell, Joseph, Rezaie, Tayebeh, Riley, George, Yang, Jinpeng, Russette, Andrew, Kattman, Brandi
Published in Genetics in Medicine Open (2025)
Published in Genetics in Medicine Open (2025)
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P844: Prenatally diagnosed 45,X/46,XY mosaicism with a male phenotype
Kashyap, Akshay, Bess, Nikita, Brar, Harbinder, Mueller, Shelley
Published in Genetics in Medicine Open (2025)
Published in Genetics in Medicine Open (2025)
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P680: Performance evaluation of a PCR/nanopore workflow for carrier screening for cystic fibrosis, spinal muscular atrophy, and fragile X syndrome
Martin, Kendall, Sabato, Fernanda, Lynch, Jesse, Ferreira-Gonzalez, Andrea, Barrie, Elizabeth
Published in Genetics in Medicine Open (2025)
Published in Genetics in Medicine Open (2025)
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P708: Investigating the diagnostic yield of long read sequencing in a selected cohort of families with undiagnosed disease
O'Shea, John, Lewis, Robert, Rangel, Alexandra, O'Fallon, Brendan, Dixon, Andrew, Glenzel, Christina, Hirschi, Megan, Clyde, Erica, Network, Undiagnosed Diseases, Baldwin, Erin, Andrews, Ashley, Botto, Lorenzo, Bayrak-Toydemir, Pinar, Mao, Rong
Published in Genetics in Medicine Open (2025)
Published in Genetics in Medicine Open (2025)
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