Making Decisions About Krabbe Disease Newborn Screening
Schrier Vergano, Samantha A, Kanungo, Shibani, Arnold, Georgianne
Published in Pediatrics (Evanston) (01.04.2022)
Published in Pediatrics (Evanston) (01.04.2022)
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Schaaf‐Yang syndrome overview: Report of 78 individuals
McCarthy, John, Lupo, Philip J., Kovar, Erin, Rech, Megan, Bostwick, Bret, Scott, Daryl, Kraft, Katerina, Roscioli, Tony, Charrow, Joel, Schrier Vergano, Samantha A., Lose, Edward, Smiegel, Robert, Lacassie, Yves, Schaaf, Christian P.
Published in American journal of medical genetics. Part A (01.12.2018)
Published in American journal of medical genetics. Part A (01.12.2018)
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Journal Article
Evidence for an association between Coffin‐Siris syndrome and congenital diaphragmatic hernia
Gofin, Yoel, Zhao, Xiaonan, Gerard, Amanda, Scaglia, Fernando, Wangler, Michael F., Schrier Vergano, Samantha A., Scott, Daryl A.
Published in American journal of medical genetics. Part A (01.09.2022)
Published in American journal of medical genetics. Part A (01.09.2022)
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Journal Article
Clinical and molecular spectrum of thymidine kinase 2-related mtDNA maintenance defect
Wang, Julia, Kim, Emily, Dai, Honzheng, Stefans, Vikki, Vogel, Hannes, Al Jasmi, Fatma, Schrier Vergano, Samantha A., Castro, Diana, Bernes, Saunder, Bhambhani, Vikas, Long, Catherine, El-Hattab, Ayman W., Wong, Lee-Jun
Published in Molecular genetics and metabolism (01.06.2018)
Published in Molecular genetics and metabolism (01.06.2018)
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Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia
Bhoj, Elizabeth J., Li, Dong, Harr, Margaret, Edvardson, Shimon, Elpeleg, Orly, Chisholm, Elizabeth, Juusola, Jane, Douglas, Ganka, Guillen Sacoto, Maria J., Siquier-Pernet, Karine, Saadi, Abdelkrim, Bole-Feysot, Christine, Nitschke, Patrick, Narravula, Alekhya, Walke, Maria, Horner, Michele B., Day-Salvatore, Debra-Lynn, Jayakar, Parul, Vergano, Samantha A. Schrier, Tarnopolsky, Mark A., Hegde, Madhuri, Colleaux, Laurence, Crino, Peter, Hakonarson, Hakon
Published in American journal of human genetics (07.04.2016)
Published in American journal of human genetics (07.04.2016)
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Journal Article
SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases
Zarate, Yuri A., Bhoj, Elizabeth, Kaylor, Julie, Li, Dong, Tsurusaki, Yoshinori, Miyake, Noriko, Matsumoto, Naomichi, Phadke, Shubha, Escobar, Luis, Irani, Afifa, Hakonarson, Hakon, Schrier Vergano, Samantha A.
Published in American journal of medical genetics. Part A (01.08.2016)
Published in American journal of medical genetics. Part A (01.08.2016)
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Journal Article
Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum
Langley, Katherine G., Brown, Jordan, Gerber, Richard J., Fox, Janelle, Friez, Michael J., Lyons, Michael, Schrier Vergano, Samantha A.
Published in American journal of medical genetics. Part A (01.12.2015)
Published in American journal of medical genetics. Part A (01.12.2015)
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Journal Article
Addressing underrepresentation in genomics research through community engagement
Lemke, Amy A., Esplin, Edward D., Goldenberg, Aaron J., Gonzaga-Jauregui, Claudia, Hanchard, Neil A., Harris-Wai, Julie, Ideozu, Justin E., Isasi, Rosario, Landstrom, Andrew P., Prince, Anya E.R., Turbitt, Erin, Sabatello, Maya, Schrier Vergano, Samantha A., Taylor, Matthew R.G., Yu, Joon-Ho, Brothers, Kyle B., Garrison, Nanibaa’ A.
Published in American journal of human genetics (01.09.2022)
Published in American journal of human genetics (01.09.2022)
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Journal Article
De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes
Liang, Lina, Li, Xia, Moutton, Sébastien, Schrier Vergano, Samantha A, Cogné, Benjamin, Saint-Martin, Anne, Hurst, Anna C E, Hu, Yushuang, Bodamer, Olaf, Thevenon, Julien, Hung, Christina Y, Isidor, Bertrand, Gerard, Bénédicte, Rega, Adelaide, Nambot, Sophie, Lehalle, Daphné, Duffourd, Yannis, Thauvin-Robinet, Christel, Faivre, Laurence, Bézieau, Stéphane, Dure, Leon S, Helbling, Daniel C, Bick, David, Xu, Chengqi, Chen, Qiuyun, Mancini, Grazia M S, Vitobello, Antonio, Wang, Qing Kenneth
Published in Human molecular genetics (01.09.2019)
Published in Human molecular genetics (01.09.2019)
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Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2
Blackburn, Patrick R., Schultz, Matthew J., Lahner, Carrie A., Li, Dong, Bhoj, Elizabeth, Fisher, Laura J., Renaud, Deborah L., Kenney, Amy, Ibrahim, Niema, Hashem, Mais, Zain Seidahmed, Mohammed, Hasadsri, Linda, Schrier Vergano, Samantha A., Alkuraya, Fowzan S., Lanpher, Brendan C.
Published in Annals of clinical and translational neurology (01.06.2020)
Published in Annals of clinical and translational neurology (01.06.2020)
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Journal Article
First data from a parent‐reported registry of 81 individuals with Coffin–Siris syndrome: Natural history and management recommendations
Mannino, Elizabeth A., Miyawaki, Hanae, Santen, Gijs, Schrier Vergano, Samantha A.
Published in American journal of medical genetics. Part A (01.11.2018)
Published in American journal of medical genetics. Part A (01.11.2018)
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Journal Article
Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire
Grünert, Sarah C., Derks, Terry G.J., Adrian, Katarina, Al-Thihli, Khalid, Ballhausen, Diana, Bidiuk, Joanna, Bordugo, Andrea, Boyer, Monica, Bratkovic, Drago, Brunner-Krainz, Michaela, Burlina, Alberto, Chakrapani, Anupam, Corpeleijn, Willemijn, Cozens, Alison, Dawson, Charlotte, Dhamko, Helena, Milosevic, Maja Djordjevic, Eiroa, Hernan, Finezilber, Yael, Moura de Souza, Carolina Fischinger, Garcia-Jiménez, Maria Concepción, Gasperini, Serena, Haas, Dorothea, Häberle, Johannes, Halligan, Rebecca, Fung, Law Hiu, Hörbe-Blindt, Alexandra, Horka, Laura Maria, Huemer, Martina, Uçar, Sema Kalkan, Kecman, Bozica, Kilavuz, Sebile, Kriván, Gergely, Lindner, Martin, Lüsebrink, Natalia, Makrilakis, Konstantinos, Mei-Kwun Kwok, Anne, Maier, Esther M., Maiorana, Arianna, McCandless, Shawn E., Mitchell, John James, Mizumoto, Hiroshi, Mundy, Helen, Ochoa, Carlos, Pierce, Kathryn, Fraile, Pilar Quijada, Regier, Debra, Rossi, Alessandro, Santer, René, Schuman, Hester C., Sobieraj, Piotr, Spenger, Johannes, Spiegel, Ronen, Stepien, Karolina M., Tal, Galit, Tanšek, Mojca Zerjav, Torkar, Ana Drole, Tchan, Michel, Thyagu, Santhosh, Schrier Vergano, Samantha A., Vucko, Erika, Weinhold, Natalie, Zsidegh, Petra, Wortmann, Saskia B.
Published in Genetics in medicine (01.08.2022)
Published in Genetics in medicine (01.08.2022)
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The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis
Weiss, Karin, Lazar, Hayley P, Kurolap, Alina, Martinez, Ariel F, Paperna, Tamar, Cohen, Lior, Smeland, Marie F, Whalen, Sandra, Heide, Solveig, Keren, Boris, Terhal, Pauline, Irving, Melita, Takaku, Motoki, Roberts, John D, Petrovich, Robert M, Schrier Vergano, Samantha A, Kenney, Amy, Hove, Hanne, DeChene, Elizabeth, Quinonez, Shane C, Colin, Estelle, Ziegler, Alban, Rumple, Melissa, Jain, Mahim, Monteil, Danielle, Roeder, Elizabeth R, Nugent, Kimberly, van Haeringen, Arie, Gambello, Michael, Santani, Avni, Medne, Līvija, Krock, Bryan, Skraban, Cara M, Zackai, Elaine H, Dubbs, Holly A, Smol, Thomas, Ghoumid, Jamal, Parker, Michael J, Wright, Michael, Turnpenny, Peter, Clayton-Smith, Jill, Metcalfe, Kay, Kurumizaka, Hitoshi, Gelb, Bruce D, Baris Feldman, Hagit, Campeau, Philippe M, Muenke, Maximilian, Wade, Paul A, Lachlan, Katherine
Published in Genetics in medicine (01.02.2020)
Published in Genetics in medicine (01.02.2020)
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Exome and RNA‐Seq analyses of an incomplete penetrance variant in USP9X in female‐specific syndromic intellectual disability
Li, Dong, March, Michael E., Wang, Tiancheng, Merengwa, Victoria, Sertori Finoti, Livia, Schrier Vergano, Samantha A., Hakonarson, Hakon, Bhoj, Elizabeth J.
Published in American journal of medical genetics. Part A (01.06.2022)
Published in American journal of medical genetics. Part A (01.06.2022)
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Journal Article
Molecular and clinical spectra of FBXL4 deficiency
El‐Hattab, Ayman W., Dai, Hongzheng, Almannai, Mohammed, Wang, Julia, Faqeih, Eissa A., Al Asmari, Ali, Saleh, Mohammed A. M., Elamin, Mohammed A. O., Alfadhel, Majid, Alkuraya, Fowzan S., Hashem, Mais, Aldosary, Mazhor S., Almass, Rawan, Almutairi, Faten B., Alsagob, Maysoon, Al‐Owain, Mohammed, Al‐Sharfa, Shirin, Al‐Hassnan, Zuhair N., Rahbeeni, Zuhair, Al‐Muhaizea, Mohammed A., Makhseed, Nawal, Foskett, Gretchen K., Stevenson, David A., Gomez‐Ospina, Natalia, Lee, Chung, Boles, Richard G., Schrier Vergano, Samantha A., Wortmann, Saskia B., Sperl, Wolfgang, Opladen, Thomas, Hoffmann, Georg F., Hempel, Maja, Prokisch, Holger, Alhaddad, Bader, Mayr, Johannes A., Chan, Wenyaw, Kaya, Namik, Wong, Lee‐Jun C.
Published in Human mutation (01.12.2017)
Published in Human mutation (01.12.2017)
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Journal Article
EP300‐related Rubinstein–Taybi syndrome: Highlighted rare phenotypic findings and a genotype–phenotype meta‐analysis of 74 patients
Cohen, Jennifer L., Schrier Vergano, Samantha A., Mazzola, Sarah, Strong, Alanna, Keena, Beth, McDougall, Carey, Ritter, Alyssa, Li, Dong, Bedoukian, Emma C., Burke, Leah W., Hoffman, Amber, Zurcher, Victoria, Krantz, Ian D., Izumi, Kosuke, Bhoj, Elizabeth, Zackai, Elaine H., Deardorff, Matthew A.
Published in American journal of medical genetics. Part A (01.12.2020)
Published in American journal of medical genetics. Part A (01.12.2020)
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