Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia
Schmidt, Wolfgang M., Rutledge, S. Lane, Schüle, Rebecca, Mayerhofer, Benjamin, Züchner, Stephan, Boltshauser, Eugen, Bittner, Reginald E.
Published in American journal of human genetics (03.12.2015)
Published in American journal of human genetics (03.12.2015)
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A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome
Ghosh, Shereen G, Scala, Marcello, Beetz, Christian, Helman, Guy, Stanley, Valentina, Yang, Xiaoxu, Breuss, Martin W, Mazaheri, Neda, Selim, Laila, Hadipour, Fatemeh, Pais, Lynn, Stutterd, Chloe A, Karageorgou, Vasiliki, Begtrup, Amber, Crunk, Amy, Juusola, Jane, Willaert, Rebecca, Flore, Leigh A, Kennelly, Kelly, Spencer, Christopher, Brown, Martha, Trapane, Pamela, Hurst, Anna C E, Lane Rutledge, S, Goodloe, Dana H, McDonald, Marie T, Shashi, Vandana, Schoch, Kelly, Tomoum, Hoda, Zaitoun, Raghda, Hadipour, Zahra, Galehdari, Hamid, Pagnamenta, Alistair T, Mojarrad, Majid, Sedaghat, Alireza, Dias, Patrícia, Quintas, Sofia, Eslahi, Atiyeh, Shariati, Gholamreza, Bauer, Peter, Simons, Cas, Houlden, Henry, Issa, Mahmoud Y, Zaki, Maha S, Maroofian, Reza, Gleeson, Joseph G
Published in European journal of human genetics : EJHG (01.02.2021)
Published in European journal of human genetics : EJHG (01.02.2021)
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Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6
Larson, Austin A, Balasubramaniam, Shanti, Christodoulou, John, Burrage, Lindsay C, Marom, Ronit, Graham, Brett H, Diaz, George A, Glamuzina, Emma, Hauser, Natalie, Heese, Bryce, Horvath, Gabriella, Mattman, Andre, van Karnebeek, Clara, Lane Rutledge, S, Williamson, Amy, Estrella, Lissette, Van Hove, Johan K L, Weisfeld-Adams, James D
Published in Mitochondrion (01.01.2019)
Published in Mitochondrion (01.01.2019)
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Clinical relevance of small copy-number variants in chromosomal microarray clinical testing
Hollenbeck, Dana, Williams, Crescenda L., Drazba, Kathryn, Descartes, Maria, Korf, Bruce R., Rutledge, S. Lane, Lose, Edward J., Robin, Nathaniel H., Carroll, Andrew J., Mikhail, Fady M.
Published in Genetics in medicine (01.04.2017)
Published in Genetics in medicine (01.04.2017)
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Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects
Theunissen, Tom E J, Szklarczyk, Radek, Gerards, Mike, Hellebrekers, Debby M E I, Mulder-Den Hartog, Elvira N M, Vanoevelen, Jo, Kamps, Rick, de Koning, Bart, Rutledge, S Lane, Schmitt-Mechelke, Thomas, van Berkel, Carola G M, van der Knaap, Marjo S, de Coo, Irenaeus F M, Smeets, Hubert J M
Published in Frontiers in neurology (16.11.2016)
Published in Frontiers in neurology (16.11.2016)
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Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: A clinical, molecular, and functional study
Tessa, Alessandra, Fiermonte, Giuseppe, Dionisi-Vici, Carlo, Paradies, Eleonora, Baumgartner, Matthias R, Chien, Yin-Hsiu, Loguercio, Carmela, de Baulny, Helene Ogier, Nassogne, Marie-Cecile, Schiff, Manuel, Deodato, Federica, Parenti, Giancarlo, Lane Rutledge, S, Antonia Vilaseca, M, Melone, Mariarosa A.B, Scarano, Gioacchino, Aldamiz-Echevarría, Luiz, Besley, Guy, Walter, John, Martinez-Hernandez, Eugenia, Hernandez, Jose M, Pierri, Ciro L, Palmieri, Ferdinando, Santorelli, Filippo M
Published in Human mutation (01.05.2009)
Published in Human mutation (01.05.2009)
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Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders
Mikhail, Fady M., Lose, Edward J., Robin, Nathaniel H., Descartes, Maria D., Rutledge, Katherine D., Rutledge, S. Lane, Korf, Bruce R., Carroll, Andrew J.
Published in American journal of medical genetics. Part A (01.10.2011)
Published in American journal of medical genetics. Part A (01.10.2011)
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ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients
Ng, Bobby G., Shiryaev, Sergey A., Rymen, Daisy, Eklund, Erik A., Raymond, Kimiyo, Kircher, Martin, Abdenur, Jose E., Alehan, Fusun, Midro, Alina T., Bamshad, Michael J., Barone, Rita, Berry, Gerard T., Brumbaugh, Jane E., Buckingham, Kati J., Clarkson, Katie, Cole, F. Sessions, O'Connor, Shawn, Cooper, Gregory M., Van Coster, Rudy, Demmer, Laurie A., Diogo, Luisa, Fay, Alexander J., Ficicioglu, Can, Fiumara, Agata, Gahl, William A., Ganetzky, Rebecca, Goel, Himanshu, Harshman, Lyndsay A., He, Miao, Jaeken, Jaak, James, Philip M., Katz, Daniel, Keldermans, Liesbeth, Kibaek, Maria, Kornberg, Andrew J., Lachlan, Katherine, Lam, Christina, Yaplito-Lee, Joy, Nickerson, Deborah A., Peters, Heidi L., Race, Valerie, Régal, Luc, Rush, Jeffrey S., Rutledge, S. Lane, Shendure, Jay, Souche, Erika, Sparks, Susan E., Trapane, Pamela, Sanchez-Valle, Amarilis, Vilain, Eric, Vøllo, Arve, Waechter, Charles J., Wang, Raymond Y., Wolfe, Lynne A., Wong, Derek A., Wood, Tim, Yang, Amy C., Matthijs, Gert, Freeze, Hudson H.
Published in Human mutation (01.07.2016)
Published in Human mutation (01.07.2016)
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Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p
Ptácek, Louis J, Gouw, Launce G, Matilla, Antoni, Leppert, Mark, Kaplan, Craig D, Digre, Kathleen B, Haines, John H, Zoghbi, Huda Y, Rutledge, S. Lane
Published in Nature genetics (01.05.1995)
Published in Nature genetics (01.05.1995)
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The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: a proposed categorization system
Mikhail, Fady M., Burnside, Rachel D., Rush, Brooke, Ibrahim, Jennifer, Godshalk, Robin, Rutledge, S. Lane, Robin, Nathaniel H., Descartes, Maria D., Carroll, Andrew J.
Published in Genetics in medicine (2014)
Published in Genetics in medicine (2014)
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Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848
Koczkowska, Magdalena, Chen, Yunjia, Callens, Tom, Gomes, Alicia, Sharp, Angela, Johnson, Sherrell, Hsiao, Meng-Chang, Chen, Zhenbin, Balasubramanian, Meena, Barnett, Christopher P., Becker, Troy A., Ben-Shachar, Shay, Bertola, Debora R., Blakeley, Jaishri O., Burkitt-Wright, Emma M.M., Callaway, Alison, Crenshaw, Melissa, Cunha, Karin S., Cunningham, Mitch, D’Agostino, Maria D., Dahan, Karin, De Luca, Alessandro, Destrée, Anne, Dhamija, Radhika, Eoli, Marica, Evans, D. Gareth R., Galvin-Parton, Patricia, George-Abraham, Jaya K., Gripp, Karen W., Guevara-Campos, Jose, Hanchard, Neil A., Hernández-Chico, Concepcion, Immken, LaDonna, Janssens, Sandra, Jones, Kristi J., Keena, Beth A., Kochhar, Aaina, Liebelt, Jan, Martir-Negron, Arelis, Mahoney, Maurice J., Maystadt, Isabelle, McDougall, Carey, McEntagart, Meriel, Mendelsohn, Nancy, Miller, David T., Mortier, Geert, Morton, Jenny, Pappas, John, Plotkin, Scott R., Pond, Dinel, Rosenbaum, Kenneth, Rubin, Karol, Russell, Laura, Rutledge, Lane S., Saletti, Veronica, Schonberg, Rhonda, Schreiber, Allison, Seidel, Meredith, Siqveland, Elizabeth, Stockton, David W., Trevisson, Eva, Ullrich, Nicole J., Upadhyaya, Meena, van Minkelen, Rick, Verhelst, Helene, Wallace, Margaret R., Yap, Yoon-Sim, Zackai, Elaine, Zonana, Jonathan, Zurcher, Vickie, Claes, Kathleen, Martin, Yolanda, Korf, Bruce R., Legius, Eric, Messiaen, Ludwine M.
Published in American journal of human genetics (04.01.2018)
Published in American journal of human genetics (04.01.2018)
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A novel c.592-4_c.592-3delTT mutation in DGUOK gene causes exon skipping
Ji, Jack Q, Dimmock, David, Tang, Lin-Ya, Descartes, Maria, Gomez, Roberto, Rutledge, S Lane, Schmitt, Eric S, Wong, Lee-Jun
Published in Mitochondrion (01.03.2010)
Published in Mitochondrion (01.03.2010)
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Case report: liver glycogen synthase deficiency--a cause of ketotic hypoglycemia
Rutledge, S L, Atchison, J, Bosshard, N U, Steinmann, B
Published in Pediatrics (Evanston) (01.08.2001)
Published in Pediatrics (Evanston) (01.08.2001)
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Chiari I malformation and neurofibromatosis type 1
Tubbs, Richard Shane, Rutledge, S.Lane, Kosentka, Anna, Bartolucci, Alfred A, Oakes, Walter Jerry
Published in Pediatric neurology (01.04.2004)
Published in Pediatric neurology (01.04.2004)
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Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1
Koczkowska, Magdalena, Callens, Tom, Chen, Yunjia, Gomes, Alicia, Hicks, Alesha D., Sharp, Angela, Johns, Eric, Uhas, Kim Armfield, Armstrong, Linlea, Bosanko, Katherine Armstrong, Babovic‐Vuksanovic, Dusica, Baker, Laura, Basel, Donald G., Bennett, James T., Chambers, Chelsea, Clarkson, Lola K., Clementi, Maurizio, Cortés, Fanny M., Cunningham, Mitch, D'Agostino, M. Daniela, Delatycki, Martin B., Digilio, Maria C., Dosa, Laura, Esposito, Silvia, Fox, Stephanie, Freckmann, Mary‐Louise, Fauth, Christine, Giugliano, Teresa, Giustini, Sandra, Goetsch, Allison, Greenwood, Robert S., Griffis, Cristin, Gripp, Karen W., Gupta, Punita, Haan, Eric, Hachen, Rachel K., Haygarth, Tamara L., Hernández‐Chico, Concepción, Hodge, Katelyn, Hopkin, Robert J., Hudgins, Louanne, Janssens, Sandra, Keller, Kory, Kelly‐Mancuso, Geraldine, Kochhar, Aaina, Korf, Bruce R., Lewis, Andrea M., Liebelt, Jan, Lichty, Angie, Listernick, Robert H., Lyons, Michael J., Maystadt, Isabelle, Martinez Ojeda, Mayra, McDougall, Carey, McGregor, Lesley K., Melis, Daniela, Mendelsohn, Nancy, Nowaczyk, Malgorzata J.M., Ortenberg, June, Panzer, Karin, Pierpont, Mary Ella, Piluso, Giulio, Pinna, Valentina, Pivnick, Eniko K., Pond, Dinel A., Powell, Cynthia M., Rogers, Caleb, Ruhrman Shahar, Noa, Rutledge, S. Lane, Saletti, Veronica, Sandaradura, Sarah A., Schatz, Ulrich A., Scott, Daryl A., Sellars, Elizabeth A., Sheffer, Ruth, Siqveland, Elizabeth, Slopis, John M., Smith, Rosemarie, Spalice, Alberto, Stockton, David W., Streff, Haley, Theos, Amy, Tomlinson, Gail E., Tran, Grace, Trapane, Pamela L., Trevisson, Eva, Ullrich, Nicole J., Van den Ende, Jenneke, Schrier Vergano, Samantha A., Wallace, Stephanie E., Wangler, Michael F., Yohay, Kaleb H., Zackai, Elaine, Zonana, Jonathan, Claes, Kathleen B. M., Eoli, Marica, Wimmer, Katharina, De Luca, Alessandro, Legius, Eric, Messiaen, Ludwine M.
Published in Human mutation (01.01.2020)
Published in Human mutation (01.01.2020)
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Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation
Koczkowska, Magdalena, Callens, Tom, Gomes, Alicia, Sharp, Angela, Chen, Yunjia, Hicks, Alesha D., Aylsworth, Arthur S., Azizi, Amedeo A., Basel, Donald G., Bellus, Gary, Bird, Lynne M., Blazo, Maria A., Burke, Leah W., Cannon, Ashley, Collins, Felicity, DeFilippo, Colette, Denayer, Ellen, Digilio, Maria C., Dills, Shelley K., Dosa, Laura, Greenwood, Robert S., Griffis, Cristin, Gupta, Punita, Hachen, Rachel K., Hernández-Chico, Concepción, Janssens, Sandra, Jones, Kristi J., Jordan, Justin T., Kannu, Peter, Korf, Bruce R., Lewis, Andrea M., Listernick, Robert H., Lonardo, Fortunato, Mahoney, Maurice J., Ojeda, Mayra Martinez, McDonald, Marie T., McDougall, Carey, Mendelsohn, Nancy, Miller, David T., Mori, Mari, Oostenbrink, Rianne, Perreault, Sebastién, Pierpont, Mary Ella, Piscopo, Carmelo, Pond, Dinel A., Randolph, Linda M., Rauen, Katherine A., Rednam, Surya, Rutledge, S. Lane, Saletti, Veronica, Schaefer, G. Bradley, Schorry, Elizabeth K., Scott, Daryl A., Shugar, Andrea, Siqveland, Elizabeth, Starr, Lois J., Syed, Ashraf, Trapane, Pamela L., Ullrich, Nicole J., Wakefield, Emily G., Walsh, Laurence E., Wangler, Michael F., Zackai, Elaine, Claes, Kathleen B. M., Wimmer, Katharina, van Minkelen, Rick, De Luca, Alessandro, Martin, Yolanda, Legius, Eric, Messiaen, Ludwine M.
Published in Genetics in medicine (01.04.2019)
Published in Genetics in medicine (01.04.2019)
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Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome
Bainbridge, Matthew N, Mazumder, Aloran, Ogasawara, Daisuke, Abou Jamra, Rami, Bernard, Geneviève, Bertini, Enrico, Burglen, Lydie, Cope, Heidi, Crawford, Ali, Derksen, Alexa, Dure, Leon, Gantz, Emily, Koch-Hogrebe, Margarete, Hurst, Anna C E, Mahida, Sonal, Marshall, Paige, Micalizzi, Alessia, Novelli, Antonio, Peng, Hongfan, Rodriguez, Diana, Robbins, Shira L, Rutledge, S Lane, Scalise, Roberta, Schließke, Sophia, Shashi, Vandana, Srivastava, Siddharth, Thiffault, Isabella, Topol, Sarah, Qebibo, Leila, Wieczorek, Dagmar, Cravatt, Benjamin, Haricharan, Svasti, Torkamani, Ali, Friedman, Jennifer
Published in Brain (London, England : 1878) (21.10.2022)
Published in Brain (London, England : 1878) (21.10.2022)
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Improved growth and nutrition status in children with methylmalonic or propionic acidemia fed an elemental medical food
Yannicelli, Steven, Acosta, Phyllis B, Velazquez, Antonio, Bock, Hans-Georg, Marriage, Barbara, Kurczynski, Thaddeus W, Miller, Marvin, Korson, Mark, Steiner, Robert D, Rutledge, Lane, Bernstein, Laurie, Chinsky, Jeffrey, Galvin-Parton, Patricia, Arnold, Georgianne L
Published in Molecular genetics and metabolism (01.09.2003)
Published in Molecular genetics and metabolism (01.09.2003)
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