Clinical case report of intractable paroxysmal sympathetic hyperactivity in TANGO2 deficiency disorder
Morrison, Kaitlin, Koshiya, Hitoshi, Safier, Robert, Brown, Amanda, May, Carol, Vockley, Jerry, Ghaloul‐Gonzalez, Lina
Published in American journal of medical genetics. Part A (01.09.2024)
Published in American journal of medical genetics. Part A (01.09.2024)
Get full text
Journal Article
Mitochondrial dysfunction associated with TANGO2 deficiency
Heiman, Paige, Mohsen, Al-Walid, Karunanidhi, Anuradha, St Croix, Claudette, Watkins, Simon, Koppes, Erik, Haas, Richard, Vockley, Jerry, Ghaloul-Gonzalez, Lina
Published in Scientific reports (23.02.2022)
Published in Scientific reports (23.02.2022)
Get full text
Journal Article
B‐complex vitamins for patients with TANGO2‐deficiency disorder
Sandkuhler, Sarah E., Zhang, Lilei, Meisner, Joshua K., Ghaloul‐Gonzalez, Lina, Beach, Cheyenne M., Harris, David, Lonlay, Pascale, Lalani, Seema R., Miyake, Christina Y., Mackenzie, Samuel J.
Published in Journal of inherited metabolic disease (01.03.2023)
Published in Journal of inherited metabolic disease (01.03.2023)
Get full text
Journal Article
Cerebrospinal fluid amino acids glycine, serine, and threonine in nonketotic hyperglycinemia
Swanson, Michael A., Miller, Kristen, Young, Sarah P., Tong, Suhong, Ghaloul‐Gonzalez, Lina, Neira‐Fresneda, Juanita, Schlichting, Lisa, Peck, Cheryl, Gabel, Linda, Friederich, Marisa W., Van Hove, Johan L. K.
Published in Journal of inherited metabolic disease (01.07.2022)
Published in Journal of inherited metabolic disease (01.07.2022)
Get full text
Journal Article
Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts
Staufner, Christian, Haack, Tobias B., Köpke, Marlies G., Straub, Beate K., Kölker, Stefan, Thiel, Christian, Freisinger, Peter, Baric, Ivo, McKiernan, Patrick J., Dikow, Nicola, Harting, Inga, Beisse, Flemming, Burgard, Peter, Kotzaeridou, Urania, Lenz, Dominic, Kühr, Joachim, Himbert, Urban, Taylor, Robert W., Distelmaier, Felix, Vockley, Jerry, Ghaloul-Gonzalez, Lina, Ozolek, John A., Zschocke, Johannes, Kuster, Alice, Dick, Anke, Das, Anib M., Wieland, Thomas, Terrile, Caterina, Strom, Tim M., Meitinger, Thomas, Prokisch, Holger, Hoffmann, Georg F.
Published in Journal of inherited metabolic disease (01.01.2016)
Published in Journal of inherited metabolic disease (01.01.2016)
Get full text
Journal Article
Under‐referral of Plain community members for genetic services despite being qualified for genetic evaluation
Ehrenberg, Sarah, Walsh Vockley, Catherine, Nelson, Erica, Baker, Jennifer, Arcieri, Michael, Lindenberger, Jessica, Ghaloul‐Gonzalez, Lina
Published in Journal of genetic counseling (01.08.2021)
Published in Journal of genetic counseling (01.08.2021)
Get full text
Journal Article
Novel GUCY2C variant causing familial diarrhea in a Mennonite kindred and a potential therapeutic approach
Wolfe, Rachel M., Mohsen, Al‐Walid, Walsh Vockley, Cate, Bertrand, Carol A., Nicholls, Robert D., Heiman, Paige, Seibold, Leah M., Vockley, Jerry, Ghaloul‐Gonzalez, Lina
Published in American journal of medical genetics. Part A (01.07.2021)
Published in American journal of medical genetics. Part A (01.07.2021)
Get full text
Journal Article
A familial case of CAMK2B mutation with variable expressivity
Heiman, Paige, Drewes, Sarah, Ghaloul-Gonzalez, Lina
Published in SAGE open medical case reports (01.02.2021)
Published in SAGE open medical case reports (01.02.2021)
Get full text
Journal Article
Prevalence of Pathogenic and Potentially Pathogenic Inborn Error of Immunity Associated Variants in Children with Severe Sepsis
Kernan, Kate F., Ghaloul-Gonzalez, Lina, Vockley, Jerry, Lamb, Janette, Hollingshead, Deborah, Chandran, Uma, Sethi, Rahil, Park, Hyun-Jung, Berg, Robert A., Wessel, David, Pollack, Murray M., Meert, Kathleen L., Hall, Mark W., Newth, Christopher J. L., Lin, John C., Doctor, Allan, Shanley, Tom, Cornell, Tim, Harrison, Rick E., Zuppa, Athena F., Banks, Russel, Reeder, Ron W., Holubkov, Richard, Notterman, Daniel A., Dean, J. Michael, Carcillo, Joseph A.
Published in Journal of clinical immunology (01.02.2022)
Published in Journal of clinical immunology (01.02.2022)
Get full text
Journal Article
Investigating the link of ACAD10 deficiency to type 2 diabetes mellitus
Bloom, Kaitlyn, Mohsen, Al-Walid, Karunanidhi, Anuradha, El Demellawy, Dina, Reyes-Múgica, Miguel, Wang, Yudong, Ghaloul-Gonzalez, Lina, Otsubo, Chikara, Tobita, Kimi, Muzumdar, Radhika, Gong, Zhenwei, Tas, Emir, Basu, Shrabani, Chen, Jie, Bennett, Michael, Hoppel, Charles, Vockley, Jerry
Published in Journal of inherited metabolic disease (01.01.2018)
Published in Journal of inherited metabolic disease (01.01.2018)
Get full text
Journal Article
Medium chain acyl-CoA dehydrogenase deficiency in a premature infant
Dobrowolski, Steven F, Ghaloul-Gonzalez, Lina, Vockley, Jerry
Published in Pediatric reports (21.11.2017)
Published in Pediatric reports (21.11.2017)
Get full text
Journal Article
Familial microduplication of 17q23.1-q23.2 involving TBX4 is associated with congenital clubfoot and reduced penetrance in females
Peterson, Jess F., Ghaloul-Gonzalez, Lina, Madan-Khetarpal, Suneeta, Hartman, Jessica, Surti, Urvashi, Rajkovic, Aleksandar, Yatsenko, Svetlana A.
Published in American journal of medical genetics. Part A (01.02.2014)
Published in American journal of medical genetics. Part A (01.02.2014)
Get full text
Journal Article
ITCH deficiency clinical phenotype expansion and mitochondrial dysfunction
Wolfe, Rachel, Heiman, Paige, D'Annibale, Olivia, Karunanidhi, Anuradha, Powers, Alyssa, Mcguire, Marianne, Seminotti, Bianca, Dobrowolski, Steven F., Reyes-Múgica, Miguel, Torok, Kathryn S., Mohsen, Al-Walid, Vockley, Jerry, Ghaloul-Gonzalez, Lina
Published in Molecular genetics and metabolism reports (01.12.2022)
Published in Molecular genetics and metabolism reports (01.12.2022)
Get full text
Journal Article
P257: A single institution analysis of in-house whole genome sequencing within pediatric and neonatal intensive care units (The PISCES Study)
Nelson, Peter, Vockley, Cate Walsh, Arnold, Georgianne, Bedoyan, Jirair, Kunovac, Amina, Kelly, Lindsey, Kozak, Dara, Yatsenko, Alexander, Atkinson, Jennifer, Lee, Adrian, Bellissimo, Daniel, Vockley, Jerry, Ghaloul-Gonzalez, Lina
Published in Genetics in Medicine Open (2023)
Published in Genetics in Medicine Open (2023)
Get full text
Journal Article
Absence of skeletal anomalies in siblings with a maternally inherited 12q13.13-q13.2 microdeletion partially involving the HOXC gene cluster
Peterson, Jess F., Hartman, Jessica, Ghaloul-Gonzalez, Lina, Surti, Urvashi, Hu, Jie
Published in American journal of medical genetics. Part A (01.03.2014)
Published in American journal of medical genetics. Part A (01.03.2014)
Get full text
Journal Article
A porcine model of phenylketonuria generated by CRISPR/Cas9 genome editing
Koppes, Erik A, Redel, Bethany K, Johnson, Marie A, Skvorak, Kristen J, Ghaloul-Gonzalez, Lina, Yates, Megan E, Lewis, Dale W, Gollin, Susanne M, Wu, Yijen L, Christ, Shawn E, Yerle, Martine, Leshinski, Angela, Spate, Lee D, Benne, Joshua A, Murphy, Stephanie L, Samuel, Melissa S, Walters, Eric M, Hansen, Sarah A, Wells, Kevin D, Lichter-Konecki, Uta, Wagner, Robert A, Newsome, Joseph T, Dobrowolski, Steven F, Vockley, Jerry, Prather, Randall S, Nicholls, Robert D
Published in JCI insight (15.10.2020)
Published in JCI insight (15.10.2020)
Get full text
Journal Article
Structure and functional studies of TANGO2 protein
Gonzalez, Lina Ghaloul, Powers, Alyssa, Vockley, Jerry, Mohsen, Al-Walid
Published in Molecular genetics and metabolism (01.04.2024)
Published in Molecular genetics and metabolism (01.04.2024)
Get full text
Journal Article
Novel insights into the pathophysiology of TANGO2 deficiency disorder
Kashiparekh, Anokhi, Mohsen, Al-Walid, Vockley, Jerry, Ghaloul-Gonzalez, Lina
Published in Molecular genetics and metabolism (01.04.2024)
Published in Molecular genetics and metabolism (01.04.2024)
Get full text
Journal Article
161 Human ITCH E3 Ubiquitin Protein Ligase (ITCH) Deficiency Syndrome Successfully Treated with Hematopoietic Cell Transplant (HCT)
Neal, Emily, Chong, Hey, Ghaloul-Gonzalez, Lina, Szabolcs, Paul, Torok, Kathryn, Coffey, Kara
Published in Clinical immunology (Orlando, Fla.) (01.05.2024)
Published in Clinical immunology (Orlando, Fla.) (01.05.2024)
Get full text
Journal Article