Search Results - "Rohena, Luis"

Novel Phenotype in Unbalanced 7;9 Translocation with Critical Incidental Finding by Fischer, Julie, Rohena, Luis

“…This case discusses a now 13-year-old boy who underwent chromosome analysis and fluorescence in situ hybridization (FISH) for subtelomeric rearrangements due…”
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Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic‐dyskinetic encephalopathy by Carvill, Gemma L., Helbig, Katherine L., Myers, Candace T., Scala, Marcello, Huether, Robert, Lewis, Sara, Kruer, Tyler N., Guida, Brandon S., Bakhtiari, Somayeh, Sebe, Joy, Tang, Sha, Stickney, Heather, Oktay, Sehribani Ulusoy, Bhandiwad, Ashwin A., Ramsey, Keri, Narayanan, Vinodh, Feyma, Timothy, Rohena, Luis O., Accogli, Andrea, Severino, Mariasavina, Hollingsworth, Georgina, Gill, Deepak, Depienne, Christel, Nava, Caroline, Sadleir, Lynette G., Caruso, Paul A., Lin, Angela E., Jansen, Floor E., Koeleman, Bobby, Brilstra, Eva, Willemsen, Marjolein H., Kleefstra, Tjitske, Sa, Joaquim, Mathieu, Marie‐Laure, Perrin, Laurine, Lesca, Gaetan, Striano, Pasquale, Casari, Giorgio, Scheffer, Ingrid E., Raible, David, Sattlegger, Evelyn, Capra, Valeria, Padilla‐Lopez, Sergio, Mefford, Heather C., Kruer, Michael C.

“…Heterozygous de novo variants in the eukaryotic elongation factor EEF1A2 have previously been described in association with intellectual disability and…”
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Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy by Carvill, Gemma L, Helbig, Katherine L, Myers, Candace T, Scala, Marcello, Huether, Robert, Lewis, Sara, Kruer, Tyler N, Guida, Brandon S, Bakhtiari, Somayeh, Sebe, Joy, Tang, Sha, Stickney, Heather, Oktay, Sehribani Ulusoy, Bhandiwad, Ashwin A, Ramsey, Keri, Narayanan, Vinodh, Feyma, Timothy, Rohena, Luis O, Accogli, Andrea, Severino, Mariasavina, Hollingsworth, Georgina, Gill, Deepak, Depienne, Christel, Nava, Caroline, Sadleir, Lynette G, Caruso, Paul A, Lin, Angela E, Jansen, Floor E, Koeleman, Bobby, Brilstra, Eva, Willemsen, Marjolein H, Kleefstra, Tjitske, Sa, Joaquim, Mathieu, Marie-Laure, Perrin, Laurine, Lesca, Gaetan, Striano, Pasquale, Casari, Giorgio, Scheffer, Ingrid E, Raible, David, Sattlegger, Evelyn, Capra, Valeria, Padilla-Lopez, Sergio, Mefford, Heather C, Kruer, Michael C

“…Heterozygous de novo variants in the eukaryotic elongation factor EEF1A2 have previously been described in association with intellectual disability and…”
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Case report: Novel phenotype in central 22q11.2 deletion syndrome by Dideum, Patrick, Rohena, Luis, Berg, Janet, Percival, Candace

“…Deletions within 22q11.2 are one of the most common microdeletions studied. We report a case of central 22q11.2 deletion with abnormal dentition, a feature not…”
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Ebstein anomaly, left ventricular non-compaction, and early onset heart failure associated with a de novo α-tropomyosin gene mutation by Kelle, Angela M., Bentley, S. Jared, Rohena, Luis O., Cabalka, Allison K., Olson, Timothy M.

“…Ebstein anomaly of the tricuspid valve (EA) can be associated with left ventricular non‐compaction (LVNC), a rare congenital cardiomyopathy. We report a 2…”
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Ebstein anomaly, left ventricular non-compaction, and early onset heart failure associated with a de novo [alpha]-tropomyosin gene mutation by Kelle, Angela M, Bentley, S Jared, Rohena, Luis O, Cabalka, Allison K, Olson, Timothy M

“…Ebstein anomaly of the tricuspid valve (EA) can be associated with left ventricular non-compaction (LVNC), a rare congenital cardiomyopathy. We report a 2…”
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A case series of a mother and two daughters with a GLI2 gene deletion demonstrating variable expressivity and incomplete penetrance by Elward, Cameron, Berg, Janet, Oberlin, John M., Rohena, Luis

“…This case series and review of the literature support that patients with pathogenic variants of the GLI2 gene demonstrate an autosomal dominant inheritance…”
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Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth by DeStefano, Gina M, Kurban, Mazen, Anyane-Yeboa, Kwame, Dall'Armi, Claudia, Di Paolo, Gilbert, Feenstra, Heather, Silverberg, Nanette, Rohena, Luis, López-Cepeda, Larissa D, Jobanputra, Vaidehi, Fantauzzo, Katherine A, Kiuru, Maija, Tadin-Strapps, Marija, Sobrino, Antonio, Vitebsky, Anna, Warburton, Dorothy, Levy, Brynn, Salas-Alanis, Julio C, Christiano, Angela M

“…Inherited hypertrichoses are rare syndromes characterized by excessive hair growth that does not result from androgen stimulation, and are often associated…”
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Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder by Shieh, Christine, Jones, Natasha, Vanle, Brigitte, Au, Margaret, Huang, Alden Y., Silva, Ana P.G., Lee, Hane, Douine, Emilie D., Otero, Maria G., Choi, Andrew, Grand, Katheryn, Taff, Ingrid P., Delgado, Mauricio R., Hajianpour, M.J., Seeley, Andrea, Rohena, Luis, Vernon, Hilary, Gripp, Karen W., Vergano, Samantha A., Mahida, Sonal, Naidu, Sakkubai, Sousa, Ana Berta, Wain, Karen E., Challman, Thomas D., Beek, Geoffrey, Basel, Donald, Ranells, Judith, Smith, Rosemarie, Yusupov, Roman, Freckmann, Mary-Louise, Ohden, Lisa, Davis-Keppen, Laura, Chitayat, David, Dowling, James J., Finkel, Richard, Dauber, Andrew, Spillmann, Rebecca, Pena, Loren D.M., Metcalfe, Kay, Splitt, Miranda, Lachlan, Katherine, McKee, Shane A., Hurst, Jane, Fitzpatrick, David R., Morton, Jenny E.V., Cox, Helen, Venkateswaran, Sunita, Young, Juan I., Marsh, Eric D., Nelson, Stanley F., Martinez, Julian A., Graham, John M., Kini, Usha, Mackay, Joel P., Pierson, Tyler Mark

“…An amendment to this paper has been published and can be accessed via a link at the top of the paper…”
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P348: De novo missense variants in ZBTB47 cause a neurodevelopmental phenotype of developmental delays, seizures, and possible movement abnormalities by Ward, Scott, Burrage, Lindsay, Rosenfeld, Jill, Bacino, Carlos, Lee, Brendan, Craigen, William, Emrick, Lisa, Fisher, Kristen, Wadley, Alexandrea, Tsai, Chun-Hui, Benke, Paul, Sacoto, Maria Guillen, Glaser, Kimberly, Murdock, David, Rohena, Luis, Diderich, K.E.M., Bruggenwirth, H.T., Houck, Kimberly

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Lisch nodules and iris mammillations in two siblings with familial legius syndrome by Bixel, Kaitlyn D., Cano, Miguel J., Johnson, Damon M., Gomez, Benjamin, Lobsinger, Laura V., Valentin, Frank E., Hsieh, David T., Rohena, Luis O.

“…Legius syndrome is characterized by numerous café‐au‐lait macules and intertriginous freckling, but typically lacks the distinctive tumor manifestations of…”
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Early‐Onset Heart Failure, Alopecia, and Cutaneous Abnormalities Associated with a Novel Compound Heterozygous Mutation in Desmoplakin by Antonov, Nina K., Kingsbery, Mina Y., Rohena, Luis O., Lee, Teresa M., Christiano, Angela, Garzon, Maria C., Lauren, Christine T.

“…Mutations in the desmosomal protein desmoplakin have been associated with various conditions affecting the skin and heart. The prototype is Carvajal syndrome,…”
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Rare presentation of 6q16.3 microdeletion syndrome with severe upper limb reduction defects and duodenal atresia by Donahue, Megan L., Rohena, Luis O.

“…Key Clinical Message We present a patient with a 17.31 MB interstitial deletion of 6q16.3‐6q22.31, who demonstrates a unique constellation of 6q‐ features…”
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Tuberous sclerosis complex: Five new things by Hsieh, David T, Whiteway, Susan L, Rohena, Luis O, Thiele, Elizabeth A

“…Tuberous sclerosis complex (TSC) is a variably expressed neurocutaneous genetic disorder characterized by hamartomatous growths in multiple organ systems…”
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eP125 - Novel phenotype in unbalanced 7;9 translocation with critical incidental finding by Fischer, Julie, Rohena, Luis

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Novel phenotype in unbalanced 7;9 translocation with critical incidental finding by Fischer, Julie, Rohena, Luis

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Expanding the phenotype of Harel‐Yoon syndrome: A case report suggesting a genotype/phenotype correlation by Abdul‐Raheem, Jareatha, Nikkola, Elina, Chen, Zhenbin, Rohena, Luis

“…Harel‐Yoon syndrome (HAYOS) is a unique neurodevelopmental genetic disorder characterized by hypotonia, spasticity, intellectual disability, hypertrophic…”
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Somatic Mosaicism of PCDH19 in a male with early infantile epileptic encephalopathy and review of the literature by Perez, Dorian, Hsieh, David T., Rohena, Luis

“…Early infantile epileptic encephalopathy‐9 (EIEE9) linked to mutations of the PCDH19 gene on the X chromosome was once thought to only affect females. Clinical…”
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KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation by Cif, Laura, Demailly, Diane, Lin, Jean-Pierre, Barwick, Katy E, Sa, Mario, Abela, Lucia, Malhotra, Sony, Chong, Wui K, Steel, Dora, Sanchis-Juan, Alba, Ngoh, Adeline, Trump, Natalie, Meyer, Esther, Vasques, Xavier, Rankin, Julia, Allain, Meredith W, Applegate, Carolyn D, Attaripour Isfahani, Sanaz, Baleine, Julien, Balint, Bettina, Bassetti, Jennifer A, Baple, Emma L, Bhatia, Kailash P, Blanchet, Catherine, Burglen, Lydie, Cambonie, Gilles, Seng, Emilie Chan, Bastaraud, Sandra Chantot, Cyprien, Fabienne, Coubes, Christine, d'Hardemare, Vincent, Doja, Asif, Dorison, Nathalie, Doummar, Diane, Dy-Hollins, Marisela E, Farrelly, Ellyn, Fitzpatrick, David R, Fearon, Conor, Fieg, Elizabeth L, Fogel, Brent L, Forman, Eva B, Fox, Rachel G, Gahl, William A, Galosi, Serena, Gonzalez, Victoria, Graves, Tracey D, Gregory, Allison, Hallett, Mark, Hasegawa, Harutomo, Hayflick, Susan J, Hamosh, Ada, Hully, Marie, Jansen, Sandra, Jeong, Suh Young, Krier, Joel B, Krystal, Sidney, Kumar, Kishore R, Laurencin, Chloé, Lee, Hane, Lesca, Gaetan, François, Laurence Lion, Lynch, Timothy, Mahant, Neil, Martinez-Agosto, Julian A, Milesi, Christophe, Mills, Kelly A, Mondain, Michel, Morales-Briceno, Hugo, Ostergaard, John R, Pal, Swasti, Pallais, Juan C, Pavillard, Frédérique, Perrigault, Pierre-Francois, Petersen, Andrea K, Polo, Gustavo, Poulen, Gaetan, Rinne, Tuula, Roujeau, Thomas, Rogers, Caleb, Roubertie, Agathe, Sahagian, Michelle, Schaefer, Elise, Selim, Laila, Selway, Richard, Sharma, Nutan, Signer, Rebecca, Soldatos, Ariane G, Stevenson, David A, Stewart, Fiona, Tchan, Michel, Verma, Ishwar C, de Vries, Bert B A, Wilson, Jenny L, Wong, Derek A, Zaitoun, Raghda, Zhen, Dolly, Znaczko, Anna, Dale, Russell C, de Gusmão, Claudio M, Friedman, Jennifer

“…Heterozygous mutations in KMT2B are associated with an early-onset, progressive and often complex dystonia (DYT28). Key characteristics of typical disease…”
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Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism by Van Esch, Hilde, Colnaghi, Rita, Freson, Kathleen, Starokadomskyy, Petro, Zankl, Andreas, Backx, Liesbeth, Abramowicz, Iga, Outwin, Emily, Rohena, Luis, Faulkner, Claire, Leong, Gary M., Newbury-Ecob, Ruth A., Challis, Rachel C., Õunap, Katrin, Jaeken, Jacques, Seuntjens, Eve, Devriendt, Koen, Burstein, Ezra, Low, Karen J., O’Driscoll, Mark

“…Replicating the human genome efficiently and accurately is a daunting challenge involving the duplication of upward of three billion base pairs. At the core of…”
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