A. Larson

发表

Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6.

N. Hauser, B. Graham, J. Christodoulou, 2019, Mitochondrion.

Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy

Michael F. Wangler, Katerina O. Wells, E. Roeder, 2019, Human mutation.

Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions

Undiagnosed Diseases Network, J. Rosenfeld, I. Scheffer, 2020, Journal of inherited metabolic disease.

Nucleotide sequence analysis of a provirus derived from an individual with tropical spastic paraparesis.

A. Haase, D. McFarlin, E. Retzel, 1990, Microbial pathogenesis.

LONP1 de novo dominant mutation causes mitochondrial encephalopathy with loss of LONP1 chaperone activity and excessive LONP1 proteolytic activity.

P. Bonnen, A. Larson, A. Besse, 2020, Mitochondrion.

The mitochondrial DNA variant m.9032T>C in MT-ATP6 encoding p.(Leu169Pro) causes a complex mitochondrial neurological syndrome.

A. Larson, J. V. Van Hove, L. Wong, 2020, Mitochondrion.

Responsiveness of sphingosine phosphate lyase insufficiency syndrome to vitamin B6 cofactor supplementation

J. Hodgin, M. Wenk, F. Hildebrandt, 2020, Journal of inherited metabolic disease.

Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis

H. Kayserili, Kenneth Lay, A. Bertoli-Avella, 2022, Nature Genetics.

Association of Head Circumference and Shoulder Dystocia in Macrosomic Neonates

D. Mandelbaum, A. Larson, 2013, Maternal and Child Health Journal.

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.

E. Bertini, M. Karayiorgou, S. Lalani, 2019, American journal of human genetics.

Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype

R. Pfundt, B. D. de Vries, M. Shinawi, 2021, Genetics in Medicine.

Cerebrotendinous Xanthomatosis Presenting with Infantile Spasms and Intellectual Disability.

P. Bonnen, T. Benke, A. Larson, 2017, JIMD reports.

REVIEW: Practical strategies to maintain anabolism by intravenous nutritional management in children with inborn metabolic diseases.

S. McCandless, A. Larson, J. V. Van Hove, 2021, Molecular genetics and metabolism.

Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.

Wei Zheng, Yan Huang, Tim Wood, 2019, American journal of human genetics.

A Novel Intronic Pathogenic Variant in STAR With a Dominant Negative Mechanism Causes Attenuated Lipoid Congenital Adrenal Hyperplasia

A. Larson, N. Meeks, N. Nokoff, 2021, Journal of investigative medicine high impact case reports.

Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

Michael F. Wangler, J. Lupski, R. Gibbs, 2014, PLoS genetics.

Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).

G. Enns, F. Scaglia, E. Pomfret, 2020, Molecular genetics and metabolism.

Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease.

Jinkuk Kim, Annapurna Poduri, P Ellen Grant, 2019, The New England journal of medicine.

MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects

W. Chung, A. Munnich, B. Menten, 2021, Human Genetics.

De novo heterozygous missense and loss‐of‐function variants in CDC42BPB are associated with a neurodevelopmental phenotype

W. Chung, E. Roeder, C. Saunders, 2020, American journal of medical genetics. Part A.

Exonic deletion of OPHN1 resulting in seizures, intellectual disability, and brain malformations

A. Larson, E. Elias, J. Leroux, 2014 .

Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency

J. Vockley, S. Wortmann, T. Derks, 2020, Genetics in Medicine.

IRF2BPL gene mutation: Expanding on neurologic phenotypes

A. Larson, E. Elias, Jasleen K. Singh, 2019, American journal of medical genetics. Part A.

Seizures and methemoglobinemia in an infant after excessive EMLA application.

J. Kaufman, A. Larson, Shireen Banerji, 2013, Pediatric emergency care.

Neurodevelopmental phenotypes in individuals with pathogenic variants in CHAMP1

W. Chung, A. Munnich, G. Bellus, 2021, Cold Spring Harbor molecular case studies.

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder

E. Eichler, J. Vincent, D. Nickerson, 2019, Genetics in Medicine.

The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder

Undiagnosed Diseases Network, J. Rosenfeld, N. Brown, 2021, Human mutation.

M. Reijnders, D. Segal, E. Wirrell, 2021, Neurology. Genetics.

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.

TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy

R. Sokol, A. Bossler, Miroslav P. Milev, 2018, Skeletal Muscle.

Tracheal and lower airway changes in a patient with mucolipidosis type II

A. Larson, J. Weinman, J. Prager, 2020, Pediatric pulmonology.

New insights into the phenotype of FARS2 deficiency

M. Minczuk, S. Seneca, B. Menten, 2017, Molecular genetics and metabolism.

Genetic causes of pituitary hormone deficiencies.

A. Larson, N. Meeks, N. Nokoff, 2015, Discovery medicine.

A novel pericentric inversion of chromosome 3 cosegregates with a developmental-behavioural phenotype

M. de Silva, M. Delatycki, H. Dahl, 2003, Journal of medical genetics.

Patient-customized oligonucleotide therapy for a rare genetic disease

S. Waisbren, P. Grant, Jinkuk Kim, 2020 .

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.

L. Vissers, I. Krantz, R. Bodmer, 2020, American journal of human genetics.

Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring

W. Chung, Kristen Wigby, C. Fagerberg, 2022, Genes.

De novo loss‐of‐function variant in PTDSS1 is associated with developmental delay

T. Balla, J. Pemberton, N. Sengupta, 2022, American journal of medical genetics. Part A.

Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease

R. Banerjee, T. Haack, D. Dimmock, 2020, Journal of inherited metabolic disease.

Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers‐Danlos syndrome

R. Pfundt, S. Nampoothiri, A. Kariminejad, 2018, Human molecular genetics.

Understanding the new BRD4‐related syndrome: Clinical and genomic delineation with an international cohort study

B. Klink, C. Bénéteau, J. Thevenon, 2022, Clinical genetics.

Serial Magnetic Resonance Imaging (MRI) in Pyruvate Dehydrogenase Complex Deficiency

N. Stence, A. Larson, J. V. Van Hove, 2020, Journal of child neurology.

Mitochondrial diseases in North America

Marni J. Falk, Kathryn M. Camp, J. Ganesh, 2020, Neurology: Genetics.

Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome‐wide sequencing

Jill L. Maron, S. Kingsmore, Marilyn C. Jones, 2023, American journal of medical genetics. Part A.

Sorbitol Is a Severity Biomarker for PMM2‐CDG with Therapeutic Implications

E. Perlstein, Christina Lam, D. Cassiman, 2021, Annals of neurology.

Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatment

S. McCandless, A. Larson, J. V. Van Hove, 2021, Journal of inherited metabolic disease.

In memoriam

A. Larson, J. L. Hove, J. Thomas, 2018, Journal of Inherited Metabolic Disease.

Disorders of sex development: clinically relevant genes involved in gonadal differentiation.

A. Larson, S. Travers, N. Nokoff, 2012, Discovery medicine.

Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: Further delineation of the 17p13.3 microdeletion spectrum

J. Rosenfeld, J. Belmont, A. Vanderver, 2018, Genetics in Medicine.

Tracer metabolomics reveals the role of aldose reductase in glycosylation

Christina Lam, M. Schultz, D. Cassiman, 2023, Cell reports. Medicine.

COQ2 nephropathy: a treatable cause of nephrotic syndrome in children

Christina Lam, A. Larson, J. V. Van Hove, 2018, Pediatric Nephrology.

Piloting a multidisciplinary approach to improve outcomes of fetal whole exome sequencing: An overview of workflow and case example

B. Cuneo, S. McCandless, A. Larson, 2023, Prenatal diagnosis.

Human Mutation

Michael F. Wangler, Nurit Assia Batzir, Katerina O. Wells, 2019 .

Biological Influences on Child Development and Behavior and Medical Evaluation of Children With Developmental-Behavioral Disorders

A. Larson, E. Elias, 2018, Developmental and Behavioral Pediatrics.

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.

De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in drosophila.

J. Lupski, H. Bellen, J. Fock, 2022, Human molecular genetics.

Cerebrotendinous Xanthomatosis Presenting with Infantile Spasms and Intellectual Disability.

P. Bonnen, T. Benke, A. Larson, 2017, JIMD reports.