Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications
Johannesen, Katrine M, Koko, Mahmoud, Gjerulfsen, Cathrine E, Schubert, Julian, Eltokhi, Ahmed, Koch, Nils A, Lauxmann, Stephan, Krüger, Johanna, Kegele, Josua, Canafoglia, Laura, Franceschetti, Silvana, Mayer, Thomas, Rebstock, Johannes, Zacher, Pia, Sterbova, Katalin, Vlckova, Marketa, Platzer, Konrad, Krey, Ilona, Heine, Constanze, Wieczorek, Dagmar, Kroell-Seger, Judith, Lund, Caroline, Klein, Karl Martin, Au, P Y Billie, Rho, Jong M, Ho, Alice W, Masnada, Silvia, Veggiotti, Pierangelo, Giordano, Lucio, Accorsi, Patrizia, Hoei-Hansen, Christina E, Zara, Federico, Verhelst, Helene, Verhoeven, Judith S, van der Zwaag, Bert, Harder, Aster V E, Brilstra, Eva, Vaccarezza, Maria, Le, Ngoc Minh, Christensen, Jakob, Grønborg, Sabine, Scherer, Stephen W, Howe, Jennifer, Fazeli, Walid, Howell, Katherine B, Leventer, Richard, Walsh, Sonja, Gerard, Marion, Gerard, Bénédicte, Matricardi, Sara, Bonardi, Claudia M, Sartori, Stefano, Berger, Andrea, Hoffman-Zacharska, Dorota, Vøllo, Arve, Motazacker, M Mahdi, Lakeman, Phillis, Betzler, Cornelia, Altuzarra, Cecilia, Caume, Roseline, Roubertie, Agathe, Guerrini, Renzo, Bilan, Frederic, Tibussek, Daniel, Koch-Hogrebe, Margarete, Perry, M Scott, Dadali, Elena, Sharkov, Artem, Mishina, Irina, Abramov, Mikhail, Kanivets, Ilya, Korostelev, Sergey, Kutsev, Sergey, Wain, Karen E, Eisenhauer, Nancy, Savatt, Juliann M, Bassan, Haim, Borovikov, Artem, Nassogne, Marie Cecile, Schoonjans, An Sofie, Buzatu, Marga, Jansen, Anna, Scalais, Emmanuel, Tan, Wen Hann, Olson, Heather E, Loddenkemper, Tobias, Poduri, Annapurna, Helbig, Katherine L, Helbig, Ingo, Goldberg, Ethan M, Borggraefe, Ingo, Lal, Dennis, Lederer, Damien, Rubboli, Guido, Heyne, Henrike O, Lesca, Gaetan, Hedrich, Ulrike B S, Benda, Jan, Gardella, Elena, Lerche, Holger
Published in Brain (London, England : 1878) (14.09.2022)
Published in Brain (London, England : 1878) (14.09.2022)
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Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels
Riggs, Erin Rooney, Bingaman, Taylor I., Barry, Carrie-Ann, Behlmann, Andrea, Bluske, Krista, Bostwick, Bret, Bright, Alison, Chen, Chun-An, Clause, Amanda R., Dharmadhikari, Avinash V., Ganapathi, Mythily, Gonzaga-Jauregui, Claudia, Grant, Andrew R., Hughes, Madeline Y., Kim, Se Rin, Krause, Amanda, Liao, Jun, Lumaka, Aimé, Mah, Michelle, Maloney, Caitlin M., Mohan, Shruthi, Osei-Owusu, Ikeoluwa A., Reble, Emma, Rennie, Olivia, Savatt, Juliann M., Shimelis, Hermela, Siegert, Rebecca K., Sneddon, Tam P., Thaxton, Courtney, Toner, Kelly A., Tran, Kien Trung, Webb, Ryan, Wilcox, Emma H., Yin, Jiani, Zhuo, Xinming, Znidarsic, Masa, Martin, Christa Lese, Betancur, Catalina, Vorstman, Jacob A.S., Miller, David T., Schaaf, Christian P.
Published in Genetics in medicine (01.09.2022)
Published in Genetics in medicine (01.09.2022)
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Response to van Riel et al
Savatt, Juliann M, Oetjens, Matthew T, Myers, Scott M, Finucane, Brenda M
Published in Genetics in medicine (01.01.2023)
Published in Genetics in medicine (01.01.2023)
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Journal Article
Low adenoma burden in unselected patients with a pathogenic APC variant
Schwiter, Rachel, Rocha, Heather, Johns, Alicia, Savatt, Juliann M., Diehl, David L., Kelly, Melissa A., Williams, Marc S., Buchanan, Adam H.
Published in Genetics in medicine (01.12.2023)
Published in Genetics in medicine (01.12.2023)
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Journal Article
Recontacting registry participants with genetic updates through GenomeConnect, the ClinGen patient registry
Savatt, Juliann M, Azzariti, Danielle R, Ledbetter, David H, Palen, Emily, Rehm, Heidi L, Riggs, Erin Rooney, Martin, Christa Lese
Published in Genetics in medicine (01.09.2021)
Published in Genetics in medicine (01.09.2021)
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Journal Article
P137: Engaging participants in data sharing enables exploration of dual diagnoses
Cooney, Caitlin, Savatt, Juliann, Riggs, Erin, Martin, Christa
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
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Journal Article
Thyroidectomy Outcomes in Patients Identified With RET Pathogenic Variants Through a Population Genomic Screening Program
Pichardo, Priscilla F A, Hellums, Ryan N, Hao, Jing, Savatt, Juliann M, Hassen, Dina, Pellitteri, Phillip K, Alvi, Madiha, Buchanan, Adam H, Purdy, Nicholas C
Published in JAMA otolaryngology-- head & neck surgery (01.03.2023)
Published in JAMA otolaryngology-- head & neck surgery (01.03.2023)
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Journal Article
Frequency of truncating FLCN variants and Birt-Hogg-Dubé-associated phenotypes in a health care system population
Savatt, Juliann M, Shimelis, Hermela, Moreno-De-Luca, Andres, Strande, Natasha T, Oetjens, Matthew T, Ledbetter, David H, Martin, Christa Lese, Myers, Scott M, Finucane, Brenda M
Published in Genetics in medicine (01.09.2022)
Published in Genetics in medicine (01.09.2022)
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Journal Article
The value of genomic variant ClinVar submissions from clinical providers: Beyond the addition of novel variants
Wain, Karen E., Palen, Emily, Savatt, Juliann M., Shuman, Devin, Finucane, Brenda, Seeley, Andrea, Challman, Thomas D., Myers, Scott M., Martin, Christa Lese
Published in Human mutation (01.11.2018)
Published in Human mutation (01.11.2018)
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Journal Article
Expansion of the Genotypic and Phenotypic Spectrum of ASH1L -Related Syndromic Neurodevelopmental Disorder
Cordova, Ineke, Blesson, Alyssa, Savatt, Juliann M, Sveden, Abigail, Mahida, Sonal, Hazlett, Heather, Rooney Riggs, Erin, Chopra, Maya
Published in Genes (28.03.2024)
Published in Genes (28.03.2024)
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Journal Article
Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome
Angelozzi, Marco, Karvande, Anirudha, Molin, Arnaud N, Ritter, Alyssa L, Leonard, Jacqueline M M, Savatt, Juliann M, Douglass, Kristen, Myers, Scott M, Grippa, Mina, Tolchin, Dara, Zackai, Elaine, Donoghue, Sarah, Hurst, Anna C E, Descartes, Maria, Smith, Kirstin, Velasco, Danita, Schmanski, Andrew, Crunk, Amy, Tokita, Mari J, de Lange, Iris M, van Gassen, Koen, Robinson, Hannah, Guegan, Katie, Suri, Mohnish, Patel, Chirag, Bournez, Marie, Faivre, Laurence, Tran-Mau-Them, Frédéric, Baker, Janice, Fabie, Noelle, Weaver, K, Shillington, Amelle, Hopkin, Robert J, Barge-Schaapveld, Daniela Q C.M, Ruivenkamp, Claudia AL, Bökenkamp, Regina, Vergano, Samantha, Seco Moro, Maria Noelia, Díaz de Bustamante, Aranzazu, Misra, Vinod K, Kennelly, Kelly, Rogers, Caleb, Friedman, Jennifer, Wigby, Kristen M, Lenberg, Jerica, Graziano, Claudio, Ahrens-Nicklas, Rebecca C, Lefebvre, Veronique
Published in Journal of medical genetics (01.11.2022)
Published in Journal of medical genetics (01.11.2022)
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Journal Article
O37: Characterization of MyCode participants with pathogenic or likely pathogenic variants in ENG, ACVRL1, or SMAD4 associated with hereditary hemorrhagic telangiectasia
Singer, Tyler, Savatt, Juliann, Kelly, Melissa, Strande, Natasha
Published in Genetics in Medicine Open (2023)
Published in Genetics in Medicine Open (2023)
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Journal Article
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature
Karayol, Remzi, Borroto, Maria Carla, Haghshenas, Sadegheh, Namasivayam, Anoja, Reilly, Jack, Levy, Michael A., Relator, Raissa, Kerkhof, Jennifer, McConkey, Haley, Shvedunova, Maria, Petersen, Andrea K., Magnussen, Kari, Zweier, Christiane, Vasileiou, Georgia, Reis, André, Savatt, Juliann M., Mulligan, Meghan R., Bicknell, Louise S., Poke, Gemma, Abu-El-Haija, Aya, Duis, Jessica, Hannig, Vickie, Srivastava, Siddharth, Barkoudah, Elizabeth, Hauser, Natalie S., van den Born, Myrthe, Hamiel, Uri, Henig, Noa, Baris Feldman, Hagit, McKee, Shane, Krapels, Ingrid P.C., Lei, Yunping, Todorova, Albena, Yordanova, Ralitsa, Atemin, Slavena, Rogac, Mihael, McConnell, Vivienne, Chassevent, Anna, Barañano, Kristin W., Shashi, Vandana, Sullivan, Jennifer A., Peron, Angela, Iascone, Maria, Canevini, Maria P., Friedman, Jennifer, Reyes, Iris A., Kierstein, Janell, Shen, Joseph J., Ahmed, Faria N., Mao, Xiao, Almoguera, Berta, Blanco-Kelly, Fiona, Platzer, Konrad, Treu, Ariana-Berenike, Quilichini, Juliette, Bourgois, Alexia, Chatron, Nicolas, Januel, Louis, Rougeot, Christelle, Carere, Deanna Alexis, Monaghan, Kristin G., Rousseau, Justine, Myers, Kenneth A., Sadikovic, Bekim, Akhtar, Asifa, Campeau, Philippe M.
Published in American journal of human genetics (11.07.2024)
Published in American journal of human genetics (11.07.2024)
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Journal Article
Observational study of population genomic screening for variants associated with endocrine tumor syndromes in a large, healthcare-based cohort
Savatt, Juliann M, Ortiz, Nicole M, Thone, Gretchen M, McDonald, Whitney S, Kelly, Melissa A, Berry, Alexander S F, Alvi, Madiha M, Hallquist, Miranda L G, Malinowski, Jennifer, Purdy, Nicholas C, Williams, Marc S, Sturm, Amy C, Buchanan, Adam H
Published in BMC medicine (07.06.2022)
Published in BMC medicine (07.06.2022)
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Journal Article
Variant interpretation is a component of clinical practice among genetic counselors in multiple specialties
Wain, Karen E., Azzariti, Danielle R., Goldstein, Jennifer L., Johnson, Amy Knight, Krautscheid, Patti, Lepore, Brianna, O’Daniel, Julianne M., Ritter, Deborah, Savatt, Juliann M., Riggs, Erin Rooney, Martin, Christa Lese
Published in Genetics in medicine (01.04.2020)
Published in Genetics in medicine (01.04.2020)
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Journal Article
ClinGen's GenomeConnect registry enables patient‐centered data sharing
Savatt, Juliann M., Azzariti, Danielle R., Faucett, W. Andrew, Harrison, Steven, Hart, Jennifer, Kattman, Brandi, Landrum, Melissa J., Ledbetter, David H., Miller, Vanessa Rangel, Palen, Emily, Rehm, Heidi L., Rhode, Jud, Turner, Stefanie, Vidal, Jo Anne, Wain, Karen E., Riggs, Erin Rooney, Martin, Christa Lese
Published in Human mutation (01.11.2018)
Published in Human mutation (01.11.2018)
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Journal Article
Positive impact of genetic counseling assistants on genetic counseling efficiency, patient volume, and cost in a cancer genetics clinic
Hallquist, Miranda L G, Tricou, Eric P, Hallquist, Michael N, Savatt, Juliann M, Rocha, Heather, Evans, Alyson E, Deckard, Nicole, Hu, Yirui, Kirchner, H Lester, Pervola, Josie, Rahm, Alanna Kulchak, Rashkin, Misha, Schmidlen, Tara J, Schwartz, Marci L B, Williams, Janet L, Williams, Marc S, Buchanan, Adam H
Published in Genetics in medicine (01.08.2020)
Published in Genetics in medicine (01.08.2020)
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