ACMG clinical laboratory standards for next-generation sequencing von Rehm, Heidi L., Bale, Sherri J., Bayrak-Toydemir, Pinar, Berg, Jonathan S., Brown, Kerry K., Deignan, Joshua L., Friez, Michael J., Funke, Birgit H., Hegde, Madhuri R., Lyon, Elaine

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Key apoptotic genes APAF1 and CASP9 implicated in recurrent folate-resistant neural tube defects von Spellicy, Catherine J, Norris, Joy, Bend, Renee, Bupp, Caleb, Mester, Paul, Reynolds, Tracy, Dean, Jane, Peng, Yunhui, Alexov, Emil, Schwartz, Charles E, Stevenson, Roger S, J Friez, Michael

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Autistic Disorder: A 20 Year Chronicle von Skinner, Cindy, Pauly, Rini, Skinner, Steven A., Schroer, Richard J., Simensen, Richard J., Taylor, Harold A., Friez, Michael J., DuPont, Barbara R., Stevenson, Roger E.

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Altered Gene-Regulatory Function of KDM5C by a Novel Mutation Associated With Autism and Intellectual Disability von Vallianatos, Christina N, Farrehi, Clara, Friez, Michael J, Burmeister, Margit, Keegan, Catherine E, Iwase, Shigeki

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Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome von Bend, Eric G, Aref-Eshghi, Erfan, Everman, David B, Rogers, R Curtis, Cathey, Sara S, Prijoles, Eloise J, Lyons, Michael J, Davis, Heather, Clarkson, Katie, Gripp, Karen W, Li, Dong, Bhoj, Elizabeth, Zackai, Elaine, Mark, Paul, Hakonarson, Hakon, Demmer, Laurie A, Levy, Michael A, Kerkhof, Jennifer, Stuart, Alan, Rodenhiser, David, Friez, Michael J, Stevenson, Roger E, Schwartz, Charles E, Sadikovic, Bekim

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Three additional patients with EED-associated overgrowth: potential mutation hotspots identified? von Spellicy, Catherine J, Peng, Yunhui, Olewiler, Leah, Cathey, Sara S, Rogers, R Curtis, Bartholomew, Dennis, Johnson, Jacob, Alexov, Emil, Lee, Jennifer A, Friez, Michael J, Jones, Julie R

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Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders von Sadikovic, Bekim, Levy, Michael A., Kerkhof, Jennifer, Aref-Eshghi, Erfan, Schenkel, Laila, Stuart, Alan, McConkey, Haley, Henneman, Peter, Venema, Andrea, Schwartz, Charles E., Stevenson, Roger E., Skinner, Steven A., DuPont, Barbara R., Fletcher, Robin S., Balci, Tugce B., Siu, Victoria Mok, Granadillo, Jorge L., Masters, Jennefer, Kadour, Mike, Friez, Michael J., van Haelst, Mieke M., Mannens, Marcel M.A.M., Louie, Raymond J., Lee, Jennifer A., Tedder, Matthew L., Alders, Marielle

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Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A von Bronicki, Lucas M, Redin, Claire, Drunat, Severine, Piton, Amélie, Lyons, Michael, Passemard, Sandrine, Baumann, Clarisse, Faivre, Laurence, Thevenon, Julien, Rivière, Jean-Baptiste, Isidor, Bertrand, Gan, Grace, Francannet, Christine, Willems, Marjolaine, Gunel, Murat, Jones, Julie R, Gleeson, Joseph G, Mandel, Jean-Louis, Stevenson, Roger E, Friez, Michael J, Aylsworth, Arthur S

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MED12 mutations link intellectual disability syndromes with dysregulated GLI3-dependent Sonic Hedgehog signaling von Zhou, Haiying, Spaeth, Jason M, Kim, Nam Hee, Xu, Xuan, Friez, Michael J, Schwartz, Charles E, Boyer, Thomas G

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Ovarian Transplantation between Monozygotic Twins Discordant for Premature Ovarian Failure von Silber, Sherman J, Lenahan, Kathleen M, Levine, David J, Pineda, Jorge A, Gorman, Kim S, Friez, Michael J, Crawford, Eric C, Gosden, Roger G

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A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome von Risheg, Hiba, Graham, John M, Clark, Robin D, Rogers, R Curtis, Opitz, John M, Moeschler, John B, Peiffer, Andreas P, May, Melanie, Joseph, Sumy M, Jones, Julie R, Stevenson, Roger E, Schwartz, Charles E, Friez, Michael J

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Recurrent Infections, Hypotonia, and Mental Retardation Caused by Duplication of MECP2 and Adjacent Region in Xq28 von Friez, Michael J, Jones, Julie R, Clarkson, Katie, Lubs, Herbert, Abuelo, Dianne, Bier, Jo-Ann Blaymore, Pai, Shashidhar, Simensen, Richard, Williams, Charles, Giampietro, Philip F, Schwartz, Charles E, Stevenson, Roger E

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Attention: Direct-To-Consumer patrons: Proceed with caution von Friez, Michael J.

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Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair von Bauters, Marijke, Van Esch, Hilde, Friez, Michael J, Boespflug-Tanguy, Odile, Zenker, Martin, Vianna-Morgante, Angela M, Rosenberg, Carla, Ignatius, Jaakko, Raynaud, Martine, Hollanders, Karen, Govaerts, Karen, Vandenreijt, Kris, Niel, Florence, Blanc, Pierre, Stevenson, Roger E, Fryns, Jean-Pierre, Marynen, Peter, Schwartz, Charles E, Froyen, Guy

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Author Correction: Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia von Latham, Sharissa L., Ehmke, Nadja, Reinke, Patrick Y. A., Taft, Manuel H., Eicke, Dorothee, Reindl, Theresia, Stenzel, Werner, Lyons, Michael J., Friez, Michael J., Lee, Jennifer A., Hecker, Ramona, Frühwald, Michael C., Becker, Kerstin, Neuhann, Teresa M., Horn, Denise, Schrock, Evelin, Niehaus, Indra, Sarnow, Katharina, Grützmann, Konrad, Gawehn, Luzie, Klink, Barbara, Rump, Andreas, Chaponnier, Christine, Figueiredo, Constanca, Knöfler, Ralf, Manstein, Dietmar J., Di Donato, Nataliya

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HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study von Friez, Michael J, Brooks, Susan Sklower, Stevenson, Roger E, Field, Michael, Basehore, Monica J, Adès, Lesley C, Sebold, Courtney, McGee, Stephen, Saxon, Samantha, Skinner, Cindy, Craig, Maria E, Murray, Lucy, Simensen, Richard J, Yap, Ying Yzu, Shaw, Marie A, Gardner, Alison, Corbett, Mark, Kumar, Raman, Bosshard, Matthias, van Loon, Barbara, Tarpey, Patrick S, Abidi, Fatima, Gecz, Jozef, Schwartz, Charles E

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Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum von Langley, Katherine G., Brown, Jordan, Gerber, Richard J., Fox, Janelle, Friez, Michael J., Lyons, Michael, Schrier Vergano, Samantha A.

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Analysis of X‐inactivation status in a Rett syndrome natural history study cohort von Fang, Xiaolan, Butler, Kameryn M., Abidi, Fatima, Gass, Jennifer, Beisang, Arthur, Feyma, Timothy, Ryther, Robin C., Standridge, Shannon, Heydemann, Peter, Jones, Mary, Haas, Richard, Lieberman, David N, Marsh, Eric D., Benke, Tim A., Skinner, Steve, Neul, Jeffrey L., Percy, Alan K., Friez, Michael J., Caylor, Raymond C.

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Natural history of Christianson syndrome von Schroer, Richard J., Holden, Kenton R., Tarpey, Patrick S., Matheus, Maria Giselle, Griesemer, David A., Friez, Michael J., Fan, Jane Zheng, Simensen, Richard J., Strømme, Petter, Stevenson, Roger E., Stratton, Michael R., Schwartz, Charles E.

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X‐Linked intellectual disability update 2022 von Schwartz, Charles E., Louie, Raymond J., Toutain, Annick, Skinner, Cindy, Friez, Michael J., Stevenson, Roger E.

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