Search Results - "Schrier Vergano, Samantha A"

Making Decisions About Krabbe Disease Newborn Screening by Schrier Vergano, Samantha A, Kanungo, Shibani, Arnold, Georgianne

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Schaaf‐Yang syndrome overview: Report of 78 individuals by 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.

“…Schaaf‐Yang Syndrome (SYS) is a genetic disorder caused by truncating pathogenic variants in the paternal allele of the maternally imprinted, paternally…”
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Evidence for an association between Coffin‐Siris syndrome and congenital diaphragmatic hernia by Gofin, Yoel, Zhao, Xiaonan, Gerard, Amanda, Scaglia, Fernando, Wangler, Michael F., Schrier Vergano, Samantha A., Scott, Daryl A.

“…Coffin‐Siris syndrome (CSS) is an autosomal dominant neurodevelopmental syndrome that can present with a variety of structural birth defects. Pathogenic…”
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Clinical and molecular spectrum of thymidine kinase 2-related mtDNA maintenance defect by 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

“…Mitochondrial DNA maintenance (mtDNA) defects have a wide range of causes, each with a set of phenotypes that overlap with many other neurological or muscular…”
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Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia by 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

“…Through an international multi-center collaboration, 13 individuals from nine unrelated families and affected by likely pathogenic biallelic variants in…”
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SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases by 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.

“…Coffin–Siris syndrome (CSS, MIM 135900), is a well‐described, multiple congenital anomaly syndrome characterized by coarse facial features, hypertrichosis,…”
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Genotype-Phenotype Correlations in 208 Individuals with Coffin-Siris Syndrome by Vasko, Ashley, Drivas, Theodore G, Schrier Vergano, Samantha A

“…Coffin-Siris syndrome (CSS, MIM 135900) is a multi-system intellectual disability syndrome characterized by classic dysmorphic features, developmental delays,…”
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Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum by Langley, Katherine G., Brown, Jordan, Gerber, Richard J., Fox, Janelle, Friez, Michael J., Lyons, Michael, Schrier Vergano, Samantha A.

“…Intellectual disability (ID) is estimated to affect 1–3% of the general population and is a common reason for referrals to pediatric and adult geneticists, as…”
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Language Impairments in Individuals With Coffin-Siris Syndrome by Vasko, Ashley, Schrier Vergano, Samantha A

“…Coffin-Siris syndrome (CSS, MIM 135900) is a now well-described, multiple congenital anomaly/intellectual disability syndrome classically characterized by…”
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De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes by 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

“…Abstract KCNMA1 encodes the large-conductance Ca2+- and voltage-activated K+ (BK) potassium channel α-subunit, and pathogenic gain-of-function variants in this…”
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Addressing underrepresentation in genomics research through community engagement by 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.

“…The vision of the American Society of Human Genetics (ASHG) is that people everywhere will realize the benefits of human genetics and genomics. Implicit in…”
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Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2 by 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.

“…Objective We describe the clinical characteristics and genetic etiology of several new cases within the ACO2‐related disease spectrum. Mitochondrial aconitase…”
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Inborn Errors of Metabolism: Becoming Ready for Rare by Vergano, Samantha A. Schrier

“…Inborn errors of metabolism (IEMs) are a large group of disorders that can present in any age group and must be considered in the differential diagnosis for a…”
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First data from a parent‐reported registry of 81 individuals with Coffin–Siris syndrome: Natural history and management recommendations by Mannino, Elizabeth A., Miyawaki, Hanae, Santen, Gijs, Schrier Vergano, Samantha A.

“…Coffin–Siris syndrome (CSS; MIM 135900) is a multisystem congenital anomaly syndrome caused by mutations in the genes in the Brg‐1 associated factors (BAF)…”
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Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire by 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.

“…This paper aims to report collective information on safety and efficacy of empagliflozin drug repurposing in individuals with glycogen storage disease type Ib…”
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The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis by 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

“…Purpose Sifrim–Hitz–Weiss syndrome (SIHIWES) is a recently described multisystemic neurodevelopmental disorder caused by de novo variants in CHD4 . In this…”
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Exome and RNA‐Seq analyses of an incomplete penetrance variant in USP9X in female‐specific syndromic intellectual disability by Li, Dong, March, Michael E., Wang, Tiancheng, Merengwa, Victoria, Sertori Finoti, Livia, Schrier Vergano, Samantha A., Hakonarson, Hakon, Bhoj, Elizabeth J.

“…Pathogenic variants in USP9X, on X chromosome, have been implicated in syndromic intellectual disability (ID) in both males and females with distinct…”
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Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia by Muir, Alison M., Gardner, Jennifer F., van Jaarsveld, Richard H., de Lange, Iris M., van der Smagt, Jasper J., Wilson, Golder N., Dubbs, Holly, Goldberg, Ethan M., Zitano, Lia, Bupp, Caleb, Martinez, Jose, Srour, Myriam, Accogli, Andrea, Alhakeem, Afnan, Meltzer, Meira, Gropman, Andrea, Brewer, Carole, Caswell, Richard C., Montgomery, Tara, McKenna, Caoimhe, McKee, Shane, Powell, Corinna, Vasudevan, Pradeep C., Brady, Angela F., Joss, Shelagh, Tysoe, Carolyn, Noh, Grace, Tarnopolsky, Mark, Brady, Lauren, Zafar, Muhammad, Schrier Vergano, Samantha A., Murray, Brianna, Sawyer, Lindsey, Hainline, Bryan E., Sapp, Katherine, DeMarzo, Danielle, Huismann, Darcy J., Wentzensen, Ingrid M., Schnur, Rhonda E., Monaghan, Kristin G., Juusola, Jane, Rhodes, Lindsay, Dobyns, William B., Lecoquierre, Francois, Goldenberg, Alice, Polster, Tilman, Axer-Schaefer, Susanne, Platzer, Konrad, Klöckner, Chiara, Hoffman, Trevor L., MacArthur, Daniel G., O’Leary, Melanie C., VanNoy, Grace E., England, Eleina, Varghese, Vinod C., Mefford, Heather C.

“…Purpose Neurodevelopmental disorders (NDDs) encompass a spectrum of genetically heterogeneous disorders with features that commonly include developmental…”
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Molecular and clinical spectra of FBXL4 deficiency by 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.

“…F‐box and leucine‐rich repeat protein 4 (FBXL4) is a mitochondrial protein whose exact function is not yet known. However, cellular studies have suggested that…”
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EP300‐related Rubinstein–Taybi syndrome: Highlighted rare phenotypic findings and a genotype–phenotype meta‐analysis of 74 patients by 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.

“…Pathogenic variants in the homologous and highly conserved genes—CREBBP and EP300—are causal for Rubinstein–Taybi syndrome (RSTS). CREBBP and EP300 encode…”
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