A. Basinger

发表

Effects of nicotinic acid on fatty acid kinetics, fuel selection, and pathways of glucose production in women.

Wei Wang, M. Hellerstein, R. Neese, 2000, American journal of physiology. Endocrinology and metabolism.

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

J. Rosenfeld, I. Scheffer, H. Mefford, 2016, American journal of human genetics.

Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy

J. Rosenfeld, L. Reinholdt, F. Scaglia, 2017, Human molecular genetics.

Effect of nicotinic acid administration on hepatic very low density lipoprotein-triglyceride production.

S. Myong, M. Hellerstein, R. Neese, 2001, American journal of physiology. Endocrinology and metabolism.

Human KCNQ5 de novo Mutations Underlie Epilepsy and Intellectual Disability.

J. Ramirez, T. Zwingman, J. Verhoeven, 2022, Journal of neurophysiology.

Expanding spectrum of congenital disorder of glycosylation Ig (CDG‐Ig): Sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality

H. Freeze, C. Powell, A. Aylsworth, 2007, American journal of medical genetics. Part A.

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations

J. Ganesh, A. Vanderver, N. Brunetti‐Pierri, 2008, Human mutation.

Genotype and phenotype in 12 additional individuals with SATB2‐associated syndrome

E. Zackai, J. Fish, R. Person, 2017, Clinical genetics.

Genotype and Phenotype in 12 additional individuals with SATB 2-Associated Syndrome

E. Zackai, J. Fish, R. Person, 2017 .

Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

H. Mefford, Manuela Pendziwiat, H. Muhle, 2018, Genetics in Medicine.

Erratum: Effects of nicotinic acid on fatty acid kinetics, fuel selection, and pathways of glucose production in women (American Journal of Physiology-Endocrinology and Metabolism (July 2000) 42 (E50-E59))

M. Hellerstein, Wei Wang, R. Neese, 2000 .

Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy

Carol J. Saunders, C. Saunders, I. Thiffault, 2019, bioRxiv.

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

J. Rosenfeld, L. Vissers, H. Peeters, 2021, Genome medicine.

De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism

Golder N Wilson, Vikki Stefans, Wendy K. Chung, 2017, Cold Spring Harbor molecular case studies.

Natural history and genotype‐phenotype correlations in 72 individuals with SATB2‐associated syndrome

Joseph W Ray, Anne M Slavotinek, Elaine Zackai, 2018, American journal of medical genetics. Part A.

FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability

I. Scheffer, H. Mefford, N. Brunetti‐Pierri, 2020, Epilepsia.

Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood.

U. Stephani, Manuela Pendziwiat, H. Muhle, 2018, American journal of human genetics.

TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

H. Mefford, Manuela Pendziwiat, H. Muhle, 2018, Genetics in Medicine.

Hepatosplenomegaly in an 8-month-old child

Zheng Fan, A. Basinger, J. Muenzer, 2006 .

De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome.

R. Naviaux, A. Basinger, W. Copeland, 2009, Mitochondrion.

De novo mutations in POLG presenting with acute liver failure or encephalopathy.

D. Dimmock, A. Basinger, L. Wong, 2009, Journal of pediatric gastroenterology and nutrition.

Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin.

P. Jayakar, J. Vockley, G. Diaz, 2023, Molecular genetics and metabolism.

Glutaric acidemia type 1 in patients of Lumbee heritage from North Carolina.

J. Booker, A. Basinger, D. Koeberl, 2006, Molecular genetics and metabolism.