Alice A. Basinger

发表

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.

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

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

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

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

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.

TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

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

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.

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.

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations

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

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.

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 .

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.

Human KCNQ5 de novo Mutations Underlie Epilepsy and Intellectual Disability.

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