Search Results - "VanSickle, Elizabeth"

Bachmann–Bupp syndrome and treatment by Bachmann, André S., VanSickle, Elizabeth A., Michael, Julianne, Vipond, Marlie, Bupp, Caleb P.

“…Bachmann–Bupp syndrome (BABS) is a neurodevelopmental disorder characterized by developmental delay, hypotonia, and varying forms of non‐congenital alopecia…”
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A novel 3q interstitial deletion including GATA2 and ZNF148: A case report by Martin, Elizabeth, VanSickle, Elizabeth A., Rossetti, Linda Z.

“…GATA2 and ZNF148 have both been mapped to chromosome 3q. Pathogenic variants in GATA2 have been associated with immunodeficiency and high risk for…”
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Dilated coronary arteries in a 2-month-old with RIT1-associated Noonan syndrome: a case report by Aniol, Claudia V, Prokop, Jeremy W, Rajasekaran, Surender, Pageau, Spencer, Elizer, Sydney K, VanSickle, Elizabeth A, Bupp, Caleb P

“…Noonan Syndrome is caused by variants in a variety of genes found in the RAS/MAPK pathway. As more causative genes for Noonan Syndrome have been identified,…”
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Improvement of dermatological symptoms in patients with Bachmann–Bupp syndrome using difluoromethylornithine treatment by Afrin, Antara, Afshan, Tonia S., VanSickle, Elizabeth A., Michael, Julianne, Laarman, Rachel L., Bupp, Caleb P.

“…Bachmann–Bupp syndrome (OMIM #619075) is a novel autosomal dominant disorder caused by variants in the c‐terminus of the ornithine decarboxylase 1 gene,…”
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Repurposing eflornithine to treat a patient with a rare ODC1 gain-of-function variant disease by Rajasekaran, Surender, Bupp, Caleb P, Leimanis-Laurens, Mara, Shukla, Ankit, Russell, Christopher, Junewick, Joseph, Gleason, Emily, VanSickle, Elizabeth A, Edgerly, Yvonne, Wittmann, Bryan M, Prokop, Jeremy W, Bachmann, André S

“…Background: Polyamine levels are intricately controlled by biosynthetic, catabolic enzymes and antizymes. The complexity suggests that minute alterations in…”
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Expansion of the phenotypic spectrum of KARS1‐related disorders to include arthrogryposis multiplex congenita and summary of experiences with lysine supplementation by Bejma, Taylor A., Beidler, Willa S., VanSickle, Elizabeth A., Prokop, Jeremy W., Brown, Wendy T., Scheurer‐Monaghan, Andrea, Rossetti, Linda Z.

“…There are currently multiple disorders of aminoacyl‐tRNA synthetases described, including KARS1‐related disorder resulting from dysfunctional lysyl‐tRNA…”
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P265: Two new cases of 9q21.13 microdeletion syndrome and review of the literature by Pastoor, Emma, VanSickle, Elizabeth, Bupp, Caleb

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P330: A novel WARS2 variant impacting dimerization in trans with a recurrent pathogenic variant in a child with features of NEMMLAS by Burns, Christine Bergeon, VanSickle, Elizabeth, Mark, Paul, Prokop, Jeremy

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Review of a rare maternally-derived unbalanced translocation involving deletion of chromosome 10q26.3 and duplication of chromosome 15q22.2→15q26.3 in a 32-year-old male patient: A case report by Heckel, Paige, VanSickle, Elizabeth, Zitano, Lia, Ebrahim, Salah, Moss, Timothy

“…Deletion of the most distal segment of chromosome 10q in conjunction with duplication of terminal 15q is a rare chromosomal disorder, appearing to be a unique…”
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Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome by VanSickle, Elizabeth A., Michael, Julianne, Bachmann, André S., Rajasekaran, Surender, Prokop, Jeremy W., Kuzniecky, Ruben, Hofstede, Floris C., Steindl, Katharina, Rauch, Anita, Lipson, Mark H., Bupp, Caleb P.

“…Bachmann‐Bupp syndrome (BABS) is a rare syndrome caused by gain‐of‐function variants in the C‐terminus of ornithine decarboxylase (ODC coded by the ODC1 gene)…”
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BKM120 induces apoptosis and inhibits tumor growth in medulloblastoma by Zhao, Ping, Hall, Jacob, Durston, Mary, Voydanoff, Austin, VanSickle, Elizabeth, Kelly, Shannon, Nagulapally, Abhinav B, Bond, Jeffery, Saulnier Sholler, Giselle

“…Medulloblastoma (MB) is the most common malignant brain tumor in children, accounting for nearly 20 percent of all childhood brain tumors. New treatment…”
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Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling by Holtz, Alexander M., VanCoillie, Rachel, Vansickle, Elizabeth A., Carere, Deanna Alexis, Withrow, Kara, Torti, Erin, Juusola, Jane, Millan, Francisca, Person, Richard, Guillen Sacoto, Maria J., Si, Yue, Wentzensen, Ingrid M., Pugh, Jada, Vasileiou, Georgia, Rieger, Melissa, Reis, André, Argilli, Emanuela, Sherr, Elliott H., Aldinger, Kimberly A., Dobyns, William B., Brunet, Theresa, Hoefele, Julia, Wagner, Matias, Haber, Benjamin, Kotzaeridou, Urania, Keren, Boris, Heron, Delphine, Mignot, Cyril, Heide, Solveig, Courtin, Thomas, Buratti, Julien, Murugasen, Serini, Donald, Kirsten A., O’Heir, Emily, Moody, Shade, Kim, Katherine H., Burton, Barbara K., Yoon, Grace, Campo, Miguel del, Masser-Frye, Diane, Kozenko, Mariya, Parkinson, Christina, Sell, Susan L., Gordon, Patricia L., Prokop, Jeremy W., Karaa, Amel, Bupp, Caleb, Raby, Benjamin A.

“…Nonmuscle myosin II complexes are master regulators of actin dynamics that play essential roles during embryogenesis with vertebrates possessing 3 nonmuscle…”
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NAA10 variant in 38-week-gestation male patient: a case study by Afrin, Antara, Prokop, Jeremy W, Underwood, Adam, Uhl, Katie L, VanSickle, Elizabeth A, Baruwal, Roja, Wajda, Morgan, Rajasekaran, Surender, Bupp, Caleb

“…We present a male patient born at 38-wk gestation with rhizomelic shortening of extremities, hepatomegaly, ventriculomegaly, heart failure, severely depressed…”
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Autosomal recessive LRP1-related syndrome featuring cardiopulmonary dysfunction, bone dysmorphology, and corneal clouding by Mark, Paul R, Murray, Stephen A, Yang, Tao, Eby, Alexandra, Lai, Angela, Lu, Di, Zieba, Jacob, Rajasekaran, Surender, VanSickle, Elizabeth A, Rossetti, Linda Z, Guidugli, Lucia, Watkins, Kelly, Wright, Meredith S, Bupp, Caleb P, Prokop, Jeremy W

“…We provide the first study of two siblings with a novel autosomal recessive LRP1-related syndrome identified by rapid genome sequencing and overlapping…”
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Two New Cases of Bachmann-Bupp Syndrome Identified through the International Center for Polyamine Disorders by Michael, Julianne, VanSickle, Elizabeth, Vipond, Marlie, Dalman, Abby, Prokop, Jeremy, Schwartz, Charles E, Rajasekaran, Surender, Bachmann, André S, Barth, Magalie, Prouteau, Clément, Almagor, Yotam, Berkun, Lina, Alterescu, Gheona, Bupp, Caleb P

“…Recent identification of four additional polyaminopathies, including Bachmann-Bupp syndrome, have benefited from previous research on Snyder-Robinson syndrome…”
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High-Density Blood Transcriptomics Reveals Precision Immune Signatures of SARS-CoV-2 Infection in Hospitalized Individuals by Prokop, Jeremy W, Hartog, Nicholas L, Chesla, Dave, Faber, William, Love, Chanise P, Karam, Rachid, Abualkheir, Nelly, Feldmann, Benjamin, Teng, Li, McBride, Tamara, Leimanis, Mara L, English, B Keith, Holsworth, Amanda, Frisch, Austin, Bauss, Jacob, Kalpage, Nathisha, Derbedrossian, Aram, Pinti, Ryan M, Hale, Nicole, Mills, Joshua, Eby, Alexandra, VanSickle, Elizabeth A, Pageau, Spencer C, Shankar, Rama, Chen, Bin, Carcillo, Joseph A, Sanfilippo, Dominic, Olivero, Rosemary, Bupp, Caleb P, Rajasekaran, Surender

“…The immune response to COVID-19 infection is variable. How COVID-19 influences clinical outcomes in hospitalized patients needs to be understood through…”
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eP193: Co-occurring TCF12 and mosaic NALCN likely pathogenic variants: Case report of novel skeletal findings without craniosynostosis, neurologic dysfunction, and apnea by Cook, David, VanSickle, Elizabeth, Moss, Timothy

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Different newborn screening results in siblings with HSD17B4-related peroxisomal disorder by Priestley, Jessica, Moss, Timothy, Vansickle, Elizabeth, Pietryga, Marguerite, Bupp, Caleb

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Leveraging Rapid Genome Sequencing to Alter Care Plans for Pediatric Patients in a Community Hospital Setting in the United States by Beuschel, Jennifer, Geyer, Hannah, Rich, Maria, Leimanis, Mara, Kampfschulte, Andrew, VanSickle, Elizabeth, Rajasekaran, Surender, Bupp, Caleb

“…Rapid genome sequencing impacted real-time diagnostic and therapeutic management for patients in a nonacademic community hospital. A retrospective chart review…”
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Milder presentation of osteogenesis imperfecta type VIII due to compound heterozygosity for a predicted loss-offunction variant and novel missense variant in P3H1-further expansion of the phenotypic spectrum by Mikhail, Kristen A, VanSickle, Elizabeth, Rossetti, Linda Z

“…Osteogenesis imperfecta (OI) is a heritable disorder of bone metabolism characterized by multiple fractures with minimal trauma. Autosomal recessive OI type…”
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