Interpretation and reporting of large regions of homozygosity and suspected consanguinity/uniparental disomy, 2021 revision: A technical standard of the American College of Medical... von Gonzales, Patrick R., Andersen, Erica F., Brown, Teneille R., Horner, Vanessa L., Horwitz, Juli, Rehder, Catherine W., Rudy, Natasha L., Robin, Nathaniel H., Thorland, Erik C., on behalf of the ACMG Laboratory Quality Assurance Committee

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Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology von Banka, Siddharth, Bennington, Abigail, Baker, Martin J, Rijckmans, Ellen, Clemente, Giuliana D, Ansor, Nurhuda Mohamad, Sito, Hilary, Prasad, Pritha, Anyane-Yeboa, Kwame, Badalato, Lauren, Dimitrov, Boyan, Fitzpatrick, David, Hurst, Anna C E, Jansen, Anna C, Kelly, Melissa A, Krantz, Ian, Rieubland, Claudine, Ross, Meredith, Rudy, Natasha L, Sanz, Javier, Stouffs, Katrien, Xu, Zhuo Luan, Malliri, Angeliki, Kazanietz, Marcelo G, Millard, Tom H

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Experiences of Family Communication and Cascade Genetic Testing for Hereditary Cancer in Medically Underserved Populations-A Qualitative Study von Bednar, Erica M, Rauh-Hain, J Alejandro, Garcia, Jose J, de Aguinaga, Norma, Powell, Mary Anne, Peral, Sylvia L, Nitecki, Roni, Jorgensen, Kirsten, Rudy, Natasha L, Lu, Karen H, Leath, 3rd, Charles A, Scarinci, Isabel C

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A previously unrecognized 22q13.2 microdeletion syndrome that encompasses TCF20 and TNFRSF13C von Upadia, Jariya, Gonzales, Patrick R., Atkinson, T. Prescott, Schroeder, Harry W., Robin, Nathaniel H., Rudy, Natasha L., Mikhail, Fady M.

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Compound heterozygous variants within two conserved sialyltransferase motifs of ST3GAL5 cause GM3 synthase deficiency von Rudy, Natasha, Aoki, Kazuhiro, Ananth, Amitha, Holloway, Lynda, Skinner, Cindy, Hurst, Anna, Tiemeyer, Michael, Steet, Richard

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De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway von Asif, Maria, Kaygusuz, Emrah, Shinawi, Marwan, Nickelsen, Anna, Hsieh, Tzung-Chien, Wagle, Prerana, Budde, Birgit S., Hochscherf, Jennifer, Abdullah, Uzma, Höning, Stefan, Nienberg, Christian, Lindenblatt, Dirk, Noegel, Angelika A., Altmüller, Janine, Thiele, Holger, Motameny, Susanne, Fleischer, Nicole, Segal, Idan, Pais, Lynn, Tinschert, Sigrid, Samra, Nadra Nasser, Savatt, Juliann M., Rudy, Natasha L., De Luca, Chiara, Paola Fortugno, White, Susan M., Krawitz, Peter, Hurst, Anna C.E., Niefind, Karsten, Jose, Joachim, Brancati, Francesco, Nürnberg, Peter, Hussain, Muhammad Sajid

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Genetic testing hearing loss: The challenge of non syndromic mimics von Gooch, Catherine, Rudy, Natasha, Smith, Richard JH, Robin, Nathaniel H.

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Keratoconus in a patient with B3GALT6‐related disorder von Descartes, Maria, Melenevsky, Yulia V., Rudy, Natasha, Smith, Kirstin, Callaway, Kaitlin, Parker, Jack S.

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Inherited CSNK2A1 variants in families with Okur‐Chung neurodevelopmental syndrome von Belnap, Newell, Price‐Smith, Aiai, Ramsey, Keri, Leka, Kamawela, Abraham, Anna, Lieberman, Emma, Hassett, Katie, Potu, Sai, Rudy, Natasha, Smith, Kirstin, Mikhail, Fady M., Monaghan, Kirstin G., Hendershot, Andrea, Mourmans, Jeroen, Descartes, Maria, Huentelman, Matthew J., Sills, Jennifer, Rangasamy, Sampath, Narayanan, Vinodh

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Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype von Isidor, Bertrand, Ebstein, Frédéric, Hurst, Anna, Vincent, Marie, Bader, Ingrid, Rudy, Natasha L., Cogne, Benjamin, Mayr, Johannes, Brehm, Anja, Bupp, Caleb, Warren, Kathryn, Bacino, Carlos A., Gerard, Amanda, Ranells, Judith D., Metcalfe, Kay A., van Bever, Yolande, Jiang, Yong-Hui, Mendelssohn, Bryce A., Cope, Heidi, Rosenfeld, Jill A., Blackburn, Patrick R., Goodenberger, McKinsey L., Kearney, Hutton M., Kennedy, Joanna, Scurr, Ingrid, Szczaluba, Krzysztof, Ploski, Rafal, de Saint Martin, Anne, Alembik, Yves, Piton, Amélie, Bruel, Ange-Line, Thauvin-Robinet, Christel, Strong, Alanna, Diderich, Karin E.M., Bourgeois, Dominique, Dahan, Karin, Vignard, Virginie, Bonneau, Dominique, Colin, Estelle, Barth, Magalie, Camby, Caroline, Baujat, Geneviève, Briceño, Ignacio, Gómez, Alberto, Deb, Wallid, Conrad, Solène, Besnard, Thomas, Bézieau, Stéphane, Krüger, Elke, Küry, Sébastien, Stankiewicz, PaweƗ

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Compound heterozygous variants within two conserved sialyltransferase motifs of ST3GAL5 cause GM3 synthase deficiency von Rudy, Natasha, Aoki, Kazuhiro, Ananth, Amitha, Holloway, Lynda, Skinner, Cindy, Hurst, Anna, Tiemeyer, Michael, Steet, Richard

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Keratoconus in a patient with B3GALT6-related disorder von Descartes, Maria, Melenevsky, Yulia V, Rudy, Natasha, Smith, Kirstin, Callaway, Kaitlin, Parker, Jack S

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Current Protocols of Corneal Collagen Cross-Linking: Visual, Refractive, and Tomographic Outcomes von Shetty, Rohit, Pahuja, Natasha Kishore, Nuijts, Rudy M.M.A, Ajani, Amrita, Jayadev, Chaitra, Sharma, Chetna, Nagaraja, Harsha

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Oxidative stress induces dysregulated autophagy in corneal epithelium of keratoconus patients von Shetty, Rohit, Sharma, Anupam, Pahuja, Natasha, Chevour, Priyanka, Padmajan, Neeraja, Dhamodaran, Kamesh, Jayadev, Chaitra, M M A Nuijts, Rudy, Ghosh, Arkasubhra, Nallathambi, Jeyabalan

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Structural system planning in buildings with the concept of metaphor architecture von Tishani, Natasha Kurnia, Trisno, Rudy

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Corneal Biomechanical Changes and Tissue Remodeling After SMILE and LASIK von Shetty, Rohit, Francis, Mathew, Shroff, Rushad, Pahuja, Natasha, Khamar, Pooja, Girrish, Molleti, Nuijts, Rudy M M A, Sinha Roy, Abhijit

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Synthesis on the effectiveness of soil translocation for plant community restoration von Gerrits, Gijs M., Waenink, Rik, Aradottir, Asa L., Buisson, Elise, Dutoit, Thierry, Ferreira, Maxmiller C., Fontaine, Joseph B., Jaunatre, Renaud, Kardol, Paul, Loeb, Roos, Magro Ruiz, Sandra, Maltz, Mia, Pärtel, Meelis, Peco, Begona, Piqueray, Julien, Pilon, Natashi A. L., Santa‐Regina, Ignacio, Schmidt, Katharina T., Sengl, Philip, Diggelen, Rudy, Vieira, Daniel L. M., Brackel, Wolfgang, Waryszak, Pawel, Wills, Tim J., Marrs, Rob H., Wubs, E. R. Jasper

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Dysregulated Tear Fluid Nociception-Associated Factors, Corneal Dendritic Cell Density, and Vitamin D Levels in Evaporative Dry Eye von Khamar, Pooja, Nair, Archana Padmanabhan, Shetty, Rohit, Vaidya, Tanuja, Subramani, Murali, Ponnalagu, Murugeswari, Dhamodaran, Kamesh, D'souza, Sharon, Ghosh, Anuprita, Pahuja, Natasha, Deshmukh, Rashmi, Ahuja, Prerna, Sainani, Kanchan, Nuijts, Rudy M M A, Das, Debashish, Ghosh, Arkasubhra, Sethu, Swaminathan

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Differential Molecular Expression of Extracellular Matrix and Inflammatory Genes at the Corneal Cone Apex Drives Focal Weakening in Keratoconus von Pahuja, Natasha, Kumar, Nimisha R, Shroff, Rushad, Shetty, Rohit, Nuijts, Rudy M M A, Ghosh, Anuprita, Sinha-Roy, Abhijit, Chaurasia, Shyam S, Mohan, Rajiv R, Ghosh, Arkasubhra

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Accelerated Corneal Collagen Cross-Linking in Pediatric Patients: Two-Year Follow-Up Results von Kurian Kummelil, Mathew, Pahuja, Natasha Kishore, Jayadev, Chaitra, Nagaraja, Harsha, Shetty, Rohit, Nuijts, Rudy M. M. A.

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