Cohesin complex-associated holoprosencephaly
Kruszka, Paul, Berger, Seth I, Casa, Valentina, Dekker, Mike R, Gaesser, Jenna, Weiss, Karin, Martinez, Ariel F, Murdock, David R, Louie, Raymond J, Prijoles, Eloise J, Lichty, Angie W, Brouwer, Oebele F, Zonneveld-Huijssoon, Evelien, Stephan, Mark J, Hogue, Jacob, Hu, Ping, Tanima-Nagai, Momoko, Everson, Joshua L, Prasad, Chitra, Cereda, Anna, Iascone, Maria, Schreiber, Allison, Zurcher, Vickie, Corsten-Janssen, Nicole, Escobar, Luis, Clegg, Nancy J, Delgado, Mauricio R, Hajirnis, Omkar, Balasubramanian, Meena, Kayserili, Hülya, Deardorff, Matthew, Poot, Raymond A, Wendt, Kerstin S, Lipinski, Robert J, Muenke, Maximilian
Published in Brain (London, England : 1878) (01.09.2019)
Published in Brain (London, England : 1878) (01.09.2019)
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Unique cerebrovascular anomalies in Noonan syndrome with RAF1 mutation
Zarate, Yuri A, Lichty, Angie W, Champion, Kristen J, Clarkson, L Kate, Holden, Kenton R, Matheus, M Gisele
Published in Journal of child neurology (01.08.2014)
Published in Journal of child neurology (01.08.2014)
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Clinical utility of the X-chromosome array
Zarate, Yuri A., Dwivedi, Alka, Bartel, Frank O., Bellomo, M. Allison, Cathey, Sara S., Champaigne, Neena L., Clarkson, L. Kate, DuPont, Barbara R., Everman, David B., Geer, Joseph S., Gordon, Barbara C., Lichty, Angie W., Lyons, Michael J., Rogers, R. Curtis, Saul, Robert A., Schroer, Richard J., Skinner, Steven A., Stevenson, Roger E.
Published in American journal of medical genetics. Part A (01.01.2013)
Published in American journal of medical genetics. Part A (01.01.2013)
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Functional assessment of homozygous ALDH18A1 variants reveals alterations in amino acid and antioxidant metabolism
Colonna, Maxwell B, Moss, Tonya, Mokashi, Sneha, Srikanth, Sujata, Jones, Julie R, Foley, Jackson R, Skinner, Cindy, Lichty, Angie, Kocur, Anthony, Wood, Tim, Stewart, Tracy Murray, Casero Jr, Robert A, Flanagan-Steet, Heather, Edison, Arthur S, Lyons, Michael J, Steet, Richard
Published in Human molecular genetics (19.02.2023)
Published in Human molecular genetics (19.02.2023)
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De novo variants in KCNA3 cause developmental and epileptic encephalopathy
Soldovieri, Maria Virginia, Ambrosino, Paolo, Mosca, Ilaria, Servettini, Ilenio, Pietrunti, Francesca, Belperio, Giorgio, Syrbe, Steffen, Taglialatela, Maurizio, Lemke, Johannes R
Published in Annals of neurology (01.02.2024)
Published in Annals of neurology (01.02.2024)
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Using pyrosequencing to determine the allele origin of 15q duplication syndrome
Patterson, Wesley, Abidi, Fatima, Gass, Jennifer M., Dobson, Amy, Lichty, Angie, Lyda, Savanna, Ziats, Catherine, Coleman, Jessica Cooley, Prijoles, Eloise, DuPont, Barbara, Skinner, Steven, Stevenson, Roger
Published in Molecular genetics and metabolism (01.04.2021)
Published in Molecular genetics and metabolism (01.04.2021)
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eP396 - Using pyrosequencing to determine the allele origin of 15q duplication syndrome
Patterson, Wesley, Abidi, Fatima, Gass, Jennifer M., Dobson, Amy, Lichty, Angie, Lyda, Savanna, Ziats, Catherine, Coleman, Jessica Cooley, Prijoles, Eloise, DuPont, Barbara, Skinner, Steven, Stevenson, Roger
Published in Molecular genetics and metabolism (01.04.2021)
Published in Molecular genetics and metabolism (01.04.2021)
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Paternal UPD14 with sSMC derived from chromosome 14 in Kagami–Ogata syndrome
Wang, Jiyong, Lichty, Angie, Johnson, Jill, Couick, Chandler, Moore, Mary Alice, Christensen, Beth, Howard, Khirston, Lee, Jennifer A., DuPont, Barbara R., Clarkson, Lola, Hilton, Benjamin A.
Published in Chromosome research (19.01.2023)
Published in Chromosome research (19.01.2023)
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Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation
Bhat, Shreyas, Rousseau, Justine, Michaud, Coralie, Lourenço, Charles Marques, Stoler, Joan M., Louie, Raymond J., Clarkson, Lola K., Lichty, Angie, Koboldt, Daniel C., Reshmi, Shalini C., Sisodiya, Sanjay M., Hoytema van Konijnenburg, Eva M.M., Koop, Klaas, van Hasselt, Peter M., Démurger, Florence, Dubourg, Christèle, Sullivan, Bonnie R., Hughes, Susan S., Thiffault, Isabelle, Tremblay, Elisabeth Simard, Accogli, Andrea, Srour, Myriam, Blunck, Rikard, Campeau, Philippe M.
Published in American journal of human genetics (04.04.2024)
Published in American journal of human genetics (04.04.2024)
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Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation
Radenkovic, Silvia, Fitzpatrick-Schmidt, Taylor, Byeon, Seul Kee, Madugundu, Anil K., Saraswat, Mayank, Lichty, Angie, Wong, Sunnie Y.W., McGee, Stephen, Kubiak, Katharine, Ligezka, Anna, Ranatunga, Wasantha, Zhang, Yuebo, Wood, Tim, Friez, Michael J., Clarkson, Katie, Pandey, Akhilesh, Jones, Julie R., Morava, Eva
Published in Molecular genetics and metabolism (01.01.2021)
Published in Molecular genetics and metabolism (01.01.2021)
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Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature
van Jaarsveld, Richard H., Reilly, Jack, Cornips, Marie-Claire, Hadders, Michael A., Agolini, Emanuele, Ahimaz, Priyanka, Anyane-Yeboa, Kwame, Bellanger, Severine Audebert, van Binsbergen, Ellen, van den Boogaard, Marie-Jose, Brischoux-Boucher, Elise, Caylor, Raymond C., Ciolfi, Andrea, van Essen, Ton A.J., Fontana, Paolo, Hopman, Saskia, Iascone, Maria, Javier, Margaret M., Kamsteeg, Erik-Jan, Kerkhof, Jennifer, Kido, Jun, Kim, Hyung-Goo, Kleefstra, Tjitske, Lonardo, Fortunato, Lai, Abbe, Lev, Dorit, Levy, Michael A., Lewis, M.E. Suzanne, Lichty, Angie, Mannens, Marcel M.A.M., Matsumoto, Naomichi, Maya, Idit, McConkey, Haley, Megarbane, Andre, Michaud, Vincent, Miele, Evelina, Niceta, Marcello, Novelli, Antonio, Onesimo, Roberta, Pfundt, Rolph, Popp, Bernt, Prijoles, Eloise, Relator, Raissa, Redon, Sylvia, Rots, Dmitrijs, Rouault, Karen, Saida, Ken, Schieving, Jolanda, Tartaglia, Marco, Tenconi, Romano, Uguen, Kevin, Verbeek, Nienke, Walsh, Christopher A., Yosovich, Keren, Yuskaitis, Christopher J., Zampino, Giuseppe, Sadikovic, Bekim, Alders, Mariëlle, Oegema, Renske
Published in Genetics in medicine (01.01.2023)
Published in Genetics in medicine (01.01.2023)
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20. Paternal UPD14 and sSMC derived from chromosome 14: A case report
Wang, Jiyong, Lichty, Angie, Johnson, Jill, Couick, Chandler, Moore, Mary Alice, Christensen, Beth, Howard, Khirston, Lee, Jennifer A., DuPont, Barbara, Clarkson, Lola B., Hilton, Benjamin A.
Published in Cancer genetics (01.06.2022)
Published in Cancer genetics (01.06.2022)
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