A familial case of CAMK2B mutation with variable expressivity

por Heiman, Paige, Drewes, Sarah, Ghaloul-Gonzalez, Lina
Publicado 2021

Medium chain acyl-CoA dehydrogenase deficiency in a premature infant

por Dobrowolski, Steven F., Ghaloul-Gonzalez, Lina, Vockley, Jerry
Publicado 2017

Under-referral of Plain community members for genetic services despite being qualified for genetic evaluation

por Ehrenberg, Sarah, Vockley, Catherine Walsh, Nelson, Erica, Baker, Jennifer, Arcieri, Michael, Lindenberger, Jessica, Ghaloul-Gonzalez, Lina
Publicado 2021

Natural history of propionic acidemia in the Amish population

por Ehrenberg, Sarah, Walsh Vockley, Catherine, Heiman, Paige, Ammous, Zineb, Wenger, Olivia, Vockley, Jerry, Ghaloul-Gonzalez, Lina
Publicado 2022

Adults with septic shock and extreme hyperferritinemia exhibit pathogenic immune variation

por Kernan, Kate F., Ghaloul-Gonzalez, Lina, Shakoory, Bita, Kellum, John A., Angus, Derek C., Carcillo, Joseph A.
Publicado 2018

ETHE1 and MOCS1 deficiencies: Disruption of mitochondrial bioenergetics, dynamics, redox homeostasis and endoplasmic reticulum-mitochondria crosstalk in patient fibroblasts

por Grings, Mateus, Seminotti, Bianca, Karunanidhi, Anuradha, Ghaloul-Gonzalez, Lina, Mohsen, Al-Walid, Wipf, Peter, Palmfeldt, Johan, Vockley, Jerry, Leipnitz, Guilhian
Publicado 2019

Mitochondrial dysfunction associated with TANGO2 deficiency

por Heiman, Paige, Mohsen, Al-Walid, Karunanidhi, Anuradha, St Croix, Claudette, Watkins, Simon, Koppes, Erik, Haas, Richard, Vockley, Jerry, Ghaloul-Gonzalez, Lina
Publicado 2022

Novel GUCY2C variant causing familial diarrhea in a Mennonite kindred and a potential therapeutic approach

por 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
Publicado 2021

Identification of Two Homozygous Variants in MYBPC3 and SMYD1 Genes Associated with Severe Infantile Cardiomyopathy

por Szulik, Marta W., Reyes-Múgica, Miguel, Marker, Daniel F., Gomez, Ana M., Zinn, Matthew D., Walsh, Leslie K., Ochoa, Juan Pablo, Franklin, Sarah, Ghaloul-Gonzalez, Lina
Publicado 2023

Reticular Dysgenesis and Mitochondriopathy Induced by Adenylate Kinase 2 Deficiency with Atypical Presentation

por Ghaloul-Gonzalez, Lina, Mohsen, Al-Walid, Karunanidhi, Anuradha, Seminotti, Bianca, Chong, Hey, Madan-Khetarpal, Suneeta, Sebastian, Jessica, Vockley, Catherine Walsh, Reyes-Múgica, Miguel, Vander Lugt, Mark T., Vockley, Jerry
Publicado 2019

Cerebrospinal fluid amino acids glycine, serine, and threonine in nonketotic hyperglycinemia

por 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.
Publicado 2022

ITCH deficiency clinical phenotype expansion and mitochondrial dysfunction

por 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
Publicado 2022

Prevalence of Pathogenic and Potentially Pathogenic Inborn Error of Immunity Associated Variants in Children with Severe Sepsis

por 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.
Publicado 2022

Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy

por Haack, Tobias B., Staufner, Christian, 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, Kühr, Joachim, Himbert, Urban, Taylor, Robert W., Distelmaier, Felix, Vockley, Jerry, Ghaloul-Gonzalez, Lina, Zschocke, Johannes, Kremer, Laura S., Graf, Elisabeth, Schwarzmayr, Thomas, Bader, Daniel M., Gagneur, Julien, Wieland, Thomas, Terrile, Caterina, Strom, Tim M., Meitinger, Thomas, Hoffmann, Georg F., Prokisch, Holger
Publicado 2015

A porcine model of phenylketonuria generated by CRISPR/Cas9 genome editing

por 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.
Publicado 2020