N. Hauser

发表

TBX6 null variants and a common hypomorphic allele in congenital scoliosis.

J. Lupski, S. Cheung, Yang Zhao, 2015, The New England journal of medicine.

Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility

J. Church, N. Hauser, C. Strom, 2014, European Journal of Human Genetics.

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

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

Ethan M. Goldberg, Christopher H. Thompson, C. H. Thompson, 2020, Annals of neurology.

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.

Experience with genomic sequencing in pediatric patients with congenital cardiac defects in a large community hospital

N. Hauser, D. Bodian, B. Solomon, 2018, Molecular genetics & genomic medicine.

FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants

A. Fatemi, D. Mitter, N. Hauser, 2017, Genetics in Medicine.

FOXG 1 syndrome : genotype – phenotype association in 83 patients with FOXG 1 variants

A. Fatemi, D. Mitter, N. Hauser, 2017 .

The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency

Robert W. Taylor, A. Rötig, N. Hauser, 2019, Genetics in Medicine.

Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations

Robert W. Taylor, H. Prokisch, N. Hauser, 2015, Journal of Inherited Metabolic Disease.

Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability

J. Rosenfeld, J. Lupski, R. Gibbs, 2021, HGG advances.

Genomic analysis of an infant with intractable diarrhea and dilated cardiomyopathy

N. Hauser, H. Mani, D. Bodian, 2017, Cold Spring Harbor molecular case studies.

De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism

W. Chung, Yvonne W Wu, D. Petrey, 2015, neurogenetics.

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

Marni J. Falk, E. Zackai, C. Cytrynbaum, 2021, American journal of medical genetics. Part A.

Deletion of GPIHBP1 causing severe chylomicronemia

Jonathan C. Cohen, H. Hobbs, N. Hauser, 2011, Journal of Inherited Metabolic Disease.

Exome sequencing identifies ACSF3 as the cause of Combined Malonic and Methylmalonic Aciduria

Leslie G. Biesecker, Marjan Huizing, William L. Nyhan, 2011, Nature genetics.

Utilization of genomic sequencing for population screening of immunodeficiencies in the newborn

Aaron D. Black, N. Hauser, D. Bodian, 2017, Genetics in Medicine.

Expanding the phenotype of ASXL3‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3

J. Graham, F. Alkuraya, N. Hauser, 2021, American journal of medical genetics. Part A.

Mosaicism in ASXL3-related syndrome: Description of five patients from three families.

K. Prescott, N. Hauser, S. Mansour, 2020, European journal of medical genetics.

Genotype-first analysis of a generally healthy population cohort supports genetic testing for diagnosis of hereditary angioedema of unknown cause

N. Hauser, D. Bodian, T. Vilboux, 2019, Allergy, Asthma & Clinical Immunology.

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.

D. MacArthur, L. Vissers, M. Reijnders, 2016, American journal of human genetics.

Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1

S. Klebe, S. Züchner, B. Bender, 2015, Journal of Neurology.

Mutation in an alternative transcript of CDKL5 in a boy with early-onset seizures

Alina Khromykh, Thierry Vilboux, N. Hauser, 2018, Cold Spring Harbor molecular case studies.

New frontiers in neuroimaging applications to inborn errors of metabolism.

N. Hauser, A. Gropman, M. Prust, 2011, Molecular genetics and metabolism.

Scoliosis and vertebral anomalies: Additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement

S. Kulkarni, M. Shinawi, N. Hauser, 2014, American journal of medical genetics. Part A.

Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants

E. Zackai, J. Lupski, R. Gibbs, 2020, Genetics in Medicine.

Variable dietary management of methylmalonic acidemia: metabolic and energetic correlations.

N. Hauser, C. Venditti, I. Manoli, 2011, The American journal of clinical nutrition.

Endosomal trafficking defects in patient cells with KIAA1109 biallelic variants

N. Hauser, J. Niederhuber, T. Vilboux, 2019, Genes & diseases.

Delineating the spectrum of impairments, disabilities, and rehabilitation needs in methylmalonic acidemia (MMA)

S. Paul, N. Hauser, A. Gropman, 2015, American journal of medical genetics. Part A.

Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures.

A. Munnich, S. Petrou, C. Depienne, 2019, Brain : a journal of neurology.

MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome)

Kiely N. James, P. Bauer, A. Caglayan, 2018, Journal of Medical Genetics.

EPG5 Variants with Modest Functional Impact Result in an Ameliorated and Primarily Neurological Phenotype in a 3.5-Year-Old Patient with Vici Syndrome

N. Hauser, S. Srivastava, J. Niederhuber, 2019, Neuropediatrics.

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

Ellen F. Macnamara, J. Constantino, J. Graham, 2023, Science advances.

Rett syndrome (MECP2) and succinic semialdehyde dehydrogenase (ALDH5A1) deficiency in a developmentally delayed female

N. Hauser, T. Bottiglieri, P. Pearl, 2019, Molecular genetics & genomic medicine.

A case study of atypical Larsen syndrome with absent hallmark joint dislocations

N. Hauser, Neslida Kodra, Callie J. Diamonstein, 2019, Molecular genetics & genomic medicine.

Diagnosis of LCHAD/TFP deficiency in an at risk newborn using umbilical cord blood acylcarnitine analysis

N. Hauser, B. Lanpher, D. Regier, 2016, Molecular genetics and metabolism reports.

Pitfalls of clinical exome and gene panel testing: alternative transcripts

N. Hauser, D. Bodian, Prachi Kothiyal, 2018, Genetics in Medicine.