Kaposiform lymphangiomatosis effectively treated with MEK inhibition
Foster, Jessica B, Li, Dong, March, Michael E, Sheppard, Sarah E, Adams, Denise M, Hakonarson, Hakon, Dori, Yoav
Published in EMBO molecular medicine (07.10.2020)
Published in EMBO molecular medicine (07.10.2020)
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Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly
Liu, Mandi, Smith, Christopher L, Biko, David M, Li, Dong, Pinto, Erin, O'Connor, Nora, Skraban, Cara, Zackai, Elaine H, Hakonarson, Hakon, Dori, Yoav, Sheppard, Sarah E
Published in European journal of human genetics : EJHG (01.09.2022)
Published in European journal of human genetics : EJHG (01.09.2022)
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Journal Article
Central conducting lymphatic anomaly: from bench to bedside
Garlisi Torales, Luciana Daniela, Sempowski, Benjamin A, Krikorian, Georgia L, Woodis, Kristina M, Paulissen, Scott M, Smith, Christopher L, Sheppard, Sarah E
Published in The Journal of clinical investigation (15.04.2024)
Published in The Journal of clinical investigation (15.04.2024)
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Journal Article
Segmental vasoconstricted patches with a border of telangiectasia
Zarowin, Diana, Heymann, Warren R., Yan, Albert C., Treat, James, Sheppard, Sarah E.
Published in Pediatric dermatology (01.05.2023)
Published in Pediatric dermatology (01.05.2023)
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Expanded phenotypic spectrum of JAG1‐associated diseases: Central conducting lymphatic anomaly with a pathogenic variant in JAG1
Li, Dong, Sheppard, Sarah E., Peroutka, Christina, Barnes, Caitlin, Reid, Janet R., Smith, Christopher L., Dori, Yoav, Hakonarson, Hakon
Published in Clinical genetics (01.05.2021)
Published in Clinical genetics (01.05.2021)
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Genotype–phenotype specificity in Menke–Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBP
Banka, Siddharth, Sayer, Rebecca, Breen, Catherine, Barton, Stephanie, Pavaine, Julija, Sheppard, Sarah E., Bedoukian, Emma, Skraban, Cara, Cuddapah, Vishnu A, Clayton‐Smith, Jill
Published in American journal of medical genetics. Part A (01.06.2019)
Published in American journal of medical genetics. Part A (01.06.2019)
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Heterozygous recurrent HNF4A variant p.Arg85Trp causes Fanconi renotubular syndrome 4 with maturity onset diabetes of the young, an autosomal dominant phenocopy of Fanconi Bickel syndrome with colobomas
Sheppard, Sarah E., Barrett, Brett, Muraresku, Colleen, McKnight, Heather, De Leon, Diva D., Lord, Katherine, Ganetzky, Rebecca
Published in American journal of medical genetics. Part A (01.02.2021)
Published in American journal of medical genetics. Part A (01.02.2021)
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Journal Article
Pathogenic variants in PIK3CA are associated with clinical phenotypes of kaposiform lymphangiomatosis, generalized lymphatic anomaly, and central conducting lymphatic anomaly
Grenier, Jeremy M., Borst, Alexandra J., Sheppard, Sarah E., Snyder, Kristen M., Li, Dong, Surrey, Lea F., Al‐Ibraheemi, Alyaa, Weber, David R., Treat, James R., Smith, Christopher L., Laje, Pablo, Dori, Yoav, Adams, Denise M., Acord, Michael, Srinivasan, Abhay S.
Published in Pediatric blood & cancer (01.09.2023)
Published in Pediatric blood & cancer (01.09.2023)
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Trisomy 9 mosaic syndrome: Sixteen additional patients with new and/or less commonly reported features, literature review, and suggested clinical guidelines
Li, Mindy, Glass, Jennifer, Du, Xiaoli, Dubbs, Holly, Harr, Margaret Horton, Falk, Marni, Smolarek, Teresa, Hopkin, Robert J., Zackai, Elaine, Sheppard, Sarah E.
Published in American journal of medical genetics. Part A (01.08.2021)
Published in American journal of medical genetics. Part A (01.08.2021)
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Journal Article
Correction to: Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly
Liu, Mandi, Smith, Christopher L, Biko, David M, Li, Dong, Pinto, Erin, O'Connor, Nora, Skraban, Cara, Zackai, Elaine H, Hakonarson, Hakon, Dori, Yoav, Sheppard, Sarah E
Published in European journal of human genetics : EJHG (03.06.2022)
Published in European journal of human genetics : EJHG (03.06.2022)
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Journal Article
Clinical decision support with a comprehensive in-EHR patient tracking system improves genetic testing follow up
Campbell, Ian M, Karavite, Dean J, Mcmanus, Morgan L, Cusick, Fred C, Junod, David C, Sheppard, Sarah E, Lourie, Eli M, Shelov, Eric D, Hakonarson, Hakon, Luberti, Anthony A, Muthu, Naveen, Grundmeier, Robert W
Published in Journal of the American Medical Informatics Association : JAMIA (20.06.2023)
Published in Journal of the American Medical Informatics Association : JAMIA (20.06.2023)
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Journal Article
What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia
Campbell, Ian M., Sheppard, Sarah E., Crowley, T. Blaine, McGinn, Daniel E., Bailey, Alice, McGinn, Michael J., Unolt, Marta, Homans, Jelle F., Chen, Erin Y., Salmons, Harold I., Gaynor, J. William, Goldmuntz, Elizabeth, Jackson, Oksana A., Katz, Lorraine E., Mascarenhas, Maria R., Deeney, Vincent F. X., Castelein, René M., Zur, Karen B., Elden, Lisa, Kallish, Staci, Kolon, Thomas F., Hopkins, Sarah E., Chadehumbe, Madeline A., Lambert, Michele P., Forbes, Brian J., Moldenhauer, Julie S., Schindewolf, Erica M., Solot, Cynthia B., Moss, Edward M., Gur, Raquel E., Sullivan, Kathleen E., Emanuel, Beverly S., Zackai, Elaine H., McDonald‐McGinn, Donna M.
Published in American journal of medical genetics. Part A (01.10.2018)
Published in American journal of medical genetics. Part A (01.10.2018)
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Journal Article
Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities
Muir, Alison M., Cohen, Jennifer L., Sheppard, Sarah E., Guttipatti, Pavithran, Lo, Tsz Y., Weed, Natalie, Doherty, Dan, DeMarzo, Danielle, Fagerberg, Christina R., Kjærsgaard, Lars, Larsen, Martin J., Rump, Patrick, Löhner, Katharina, Hirsch, Yoel, Zeevi, David A., Zackai, Elaine H., Bhoj, Elizabeth, Song, Yuanquan, Mefford, Heather C.
Published in American journal of human genetics (07.05.2020)
Published in American journal of human genetics (07.05.2020)
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Journal Article
Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema
Byrne, Alicia B, Brouillard, Pascal, Sutton, Drew L, Kazenwadel, Jan, Montazaribarforoushi, Saba, Secker, Genevieve A, Oszmiana, Anna, Babic, Milena, Betterman, Kelly L, Brautigan, Peter J, White, Melissa, Piltz, Sandra G, Thomas, Paul Q, Hahn, Christopher N, Rath, Matthias, Felbor, Ute, Korenke, G Christoph, Smith, Christopher L, Wood, Kathleen H, Sheppard, Sarah E, Adams, Denise M, Kariminejad, Ariana, Helaers, Raphael, Boon, Laurence M, Revencu, Nicole, Moore, Lynette, Barnett, Christopher, Haan, Eric, Arts, Peer, Vikkula, Miikka, Scott, Hamish S, Harvey, Natasha L
Published in Science translational medicine (02.03.2022)
Published in Science translational medicine (02.03.2022)
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Genomic profiling informs diagnoses and treatment in vascular anomalies
Li, Dong, Sheppard, Sarah E., March, Michael E., Battig, Mark R., Surrey, Lea F., Srinivasan, Abhay S., Matsuoka, Leticia S., Tian, Lifeng, Wang, Fengxiang, Seiler, Christoph, Dayneka, Jill, Borst, Alexandra J., Matos, Mary C., Paulissen, Scott M., Krishnamurthy, Ganesh, Nriagu, Bede, Sikder, Tamjeed, Casey, Melissa, Williams, Lydia, Rangu, Sneha, O’Connor, Nora, Thomas, Alexandria, Pinto, Erin, Hou, Cuiping, Nguyen, Kenny, Pellegrino da Silva, Renata, Chehimi, Samar N., Kao, Charlly, Biroc, Lauren, Britt, Allison D., Queenan, Maria, Reid, Janet R., Napoli, Joseph A., Low, David M., Vatsky, Seth, Treat, James, Smith, Christopher L., Cahill, Anne Marie, Snyder, Kristen M., Adams, Denise M., Dori, Yoav, Hakonarson, Hakon
Published in Nature medicine (01.06.2023)
Published in Nature medicine (01.06.2023)
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Journal Article
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants
Kayumi, Sayaka, Pérez-Jurado, Luis A., Palomares, María, Rangu, Sneha, Sheppard, Sarah E., Chung, Wendy K., Kruer, Michael C., Kharbanda, Mira, Amor, David J., McGillivray, George, Cohen, Julie S., García-Miñaúr, Sixto, van Eyk, Clare L., Harper, Kelly, Jolly, Lachlan A., Webber, Dani L., Barnett, Christopher P., Santos-Simarro, Fernando, Pacio-Míguez, Marta, Pozo, Angela del, Bakhtiari, Somayeh, Deardorff, Matthew, Dubbs, Holly A., Izumi, Kosuke, Grand, Katheryn, Gray, Christopher, Mark, Paul R., Bhoj, Elizabeth J., Li, Dong, Ortiz-Gonzalez, Xilma R., Keena, Beth, Zackai, Elaine H., Goldberg, Ethan M., Perez de Nanclares, Guiomar, Pereda, Arrate, Llano-Rivas, Isabel, Arroyo, Ignacio, Fernández-Cuesta, María Ángeles, Thauvin-Robinet, Christel, Faivre, Laurence, Garde, Aurore, Mazel, Benoit, Bruel, Ange-Line, Tress, Michael L., Brilstra, Eva, Fine, Amena Smith, Crompton, Kylie E., Stegmann, Alexander P.A., Sinnema, Margje, Stevens, Servi C.J., Nicolai, Joost, Lesca, Gaetan, Lion-François, Laurence, Haye, Damien, Chatron, Nicolas, Piton, Amelie, Nizon, Mathilde, Cogne, Benjamin, Srivastava, Siddharth, Bassetti, Jennifer, Muss, Candace, Gripp, Karen W., Procopio, Rebecca A., Millan, Francisca, Morrow, Michelle M., Assaf, Melissa, Moreno-De-Luca, Andres, Joss, Shelagh, Hamilton, Mark J., Bertoli, Marta, Foulds, Nicola, McKee, Shane, MacLennan, Alastair H., Gecz, Jozef, Corbett, Mark A.
Published in Genetics in medicine (01.11.2022)
Published in Genetics in medicine (01.11.2022)
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