Lina Ghaloul-Gonzalez

发表

Adults with septic shock and extreme hyperferritinemia exhibit pathogenic immune variation

D. Angus, J. Carcillo, J. Kellum, 2018, Genes & Immunity.

Investigating the link of ACAD10 deficiency to type 2 diabetes mellitus

Yudong Wang, J. Vockley, C. Hoppel, 2018, Journal of Inherited Metabolic Disease.

Mitochondrial respiratory chain disorders in the Old Order Amish population.

D. Morton, J. Vockley, S. Dobrowolski, 2016, Molecular genetics and metabolism.

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

J. Vockley, R. Nicholls, A. Mohsen, 2021, American journal of medical genetics. Part A.

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

John C. Lin, R. Berg, D. Notterman, 2021, Journal of clinical immunology.

A familial case of CAMK2B mutation with variable expressivity

S.S.D. Drewes, Lina Ghaloul-Gonzalez, P. Heiman, 2021, SAGE open medical case reports.

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

Sarah A. Hansen, S. Christ, L. Spate, 2020, JCI insight.

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

J. V. Van Hove, Suhong Tong, S. Young, 2022, Journal of inherited metabolic disease.

Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts

Robert W. Taylor, T. Wieland, I. Harting, 2016, Journal of Inherited Metabolic Disease.

Familial microduplication of 17q23.1–q23.2 involving TBX4 is associated with congenital clubfoot and reduced penetrance in females

U. Surti, A. Rajkovic, S. Yatsenko, 2014, American journal of medical genetics. Part A.

ITCH deficiency clinical phenotype expansion and mitochondrial dysfunction

J. Vockley, S. Dobrowolski, B. Seminotti, 2022, Molecular genetics and metabolism reports.

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

P. Wipf, J. Vockley, G. Leipnitz, 2019, Scientific Reports.

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.

Joshua L. Deignan, T. Bourgeron, R. Delorme, 2019, American journal of human genetics.

Adults with septic shock and extreme hyperferritinemia exhibit pathogenic immune variation

D. Angus, J. Carcillo, J. Kellum, 2018, Genes & Immunity.

Absence of skeletal anomalies in siblings with a maternally inherited 12q13.13‐q13.2 microdeletion partially involving the HOXC gene cluster

U. Surti, Jie Hu, Lina Ghaloul-Gonzalez, 2014, American journal of medical genetics. Part A.

Mutations in ACTL 6 B cause neurodevelopmental deficits and epilepsy and lead to 1 loss of dendrites in human neurons 2 3

Anne, Fassi, Joshua L. Deignan, 2019 .

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

Thomas Meitinger, Julien Gagneur, Holger Prokisch, 2015, American journal of human genetics.

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

J. Vockley, B. Seminotti, C. W. Vockley, 2019, Scientific Reports.

Mitochondrial dysfunction associated with TANGO2 deficiency

J. Vockley, C. S. St. Croix, A. Mohsen, 2022, Scientific Reports.

Development and characterization of a mouse model for Acad9 deficiency.

Yudong Wang, J. Vockley, Yijen L. Wu, 2021, Molecular genetics and metabolism.

Natural history of propionic acidemia in the Amish population

J. Vockley, Z. Ammous, C. Walsh Vockley, 2022, Molecular genetics and metabolism reports.

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

Jennifer L Baker, C. Walsh Vockley, Lina Ghaloul-Gonzalez, 2021, Journal of genetic counseling.

Rapid Whole Genome Sequencing and Fulfilling the Promise of Precision Pediatric Critical Care.

J. Carcillo, J. Vockley, K. Kernan, 2019, Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies.

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

S. Franklin, M. Reyes-Múgica, Marta W. Szulik, 2023, Genes.

B‐complex vitamins for patients with TANGO2‐deficiency disorder

S. Lalani, P. Lonlay, J. Meisner, 2022, Journal of inherited metabolic disease.

Investigating the link of ACAD10 deficiency to type 2 diabetes mellitus

Yudong Wang, J. Vockley, C. Hoppel, 2018, Journal of Inherited Metabolic Disease.

De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features.

Denise G. Lanza, Jason D. Heaney, J. Posey, 2024, American journal of human genetics.