Danny E. Miller

发表

Targeted long-read sequencing identifies missing pathogenic variants in unsolved Werner syndrome cases

E. Eichler, F. Hisama, K. Yokote, 2022, Journal of Medical Genetics.

Dual diagnoses in 152 patients with Turner syndrome: Knowledge of the second condition may lead to modification of treatment and/or surveillance

M. Rohanizadegan, A. Lin, L. Levitsky, 2018, American journal of medical genetics. Part A.

Targeted Long‐Read Sequencing Identifies a Retrotransposon Insertion as a Cause of Altered GNAS Exon A/B Methylation in a Family With Autosomal Dominant Pseudohypoparathyroidism Type 1b (PHP1B)

E. Eichler, H. Jüppner, A. Linglart, 2022, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Beyond the exome: what’s next in diagnostic testing for Mendelian conditions

M. Wheeler, S. Montgomery, M. Bamshad, 2023, ArXiv.

Curated variation benchmarks for challenging medically-relevant autosomal genes

Mark T. W. Ebbert, Nathan D. Olson, Karen H. Miga, 2021, Nature Biotechnology.

Targeted long-read sequencing identifies missing disease-causing variation.

William H. Majoros, Karynne E. Patterson, Timothy E. Reddy, 2021, American journal of human genetics.

Heterozygous inversion breakpoints suppress meiotic crossovers by altering recombination repair outcomes

Danny E. Miller, Miranda Galey, K. N. Crown, 2022, bioRxiv.

Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy

E. Zackai, H. Hakonarson, W. Dobyns, 2020, American journal of medical genetics. Part A.

Further delineation of van den Ende‐Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome

D. Nickerson, M. Bamshad, J. Graham, 2021, American journal of medical genetics. Part A.

Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A

M. Bamshad, P. Byers, A. Stergachis, 2023, bioRxiv.

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis

Sonja W. Scholz, Hannah A. Pliner, Janel O. Johnson, 2021, JAMA neurology.

Mutations in the SPTLC1 gene are a cause of amyotrophic lateral sclerosis that may be amenable to serine supplementation

Sonja W. Scholz, Hannah A. Pliner, Janel O. Johnson, 2019, bioRxiv.

Applications of long-read sequencing to Mendelian genetics

Danny E. Miller, Evan E. Eichler, Francesco K. Mastrorosa, 2023, Genome Medicine.

Characteristics, Genetic Testing, and Diagnoses of Infants with Neonatal Encephalopathy Not Due Hypoxic Ischemic Encephalopathy - A Cohort Study.

E. Weiss, N. Natarajan, T. Wood, 2023, The Journal of pediatrics.

Ciliopathy gene variants and perioperative respiratory outcomes in infants with heterotaxy syndrome and congenital heart disease

Jonathan Marquez, M. Files, Danny E. Miller, 2023, Translational Science of Rare Diseases.

Dominant‐negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome

M. Bamshad, P. Byers, A. Stergachis, 2023, Annals of clinical and translational neurology.

A child with autism, behavioral issues, and dysmorphic features found to have a tandem duplication within CTNND2 by mate‐pair sequencing

Danny E. Miller, Audrey E Squire, James T. Bennett, 2019, American journal of medical genetics. Part A.

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

Beyond the exome: what’s next in diagnostic testing for Mendelian conditions

M. Wheeler, S. Montgomery, M. Bamshad, 2023, American journal of human genetics.

Panels, Exomes, Genomes, and More-Finding the Best Path Through the Diagnostic Odyssey.

Danny E. Miller, Arthur Lenahan, Audrey E Squire, 2023, Pediatric clinics of North America.

Implementation of Nanopore sequencing as a pragmatic workflow for copy number variant confirmation in the clinic

Premal Shah, M. Rabinowitz, B. Levy, 2023, Journal of Translational Medicine.

GENOME REPORT: Chromosome-scale genome assembly of the African spiny mouse (Acomys cahirinus)

Bernard Y. Kim, James W. MacDonald, A. McKenna, 2023, bioRxiv.

Pharmacokinetics of oral l-serine supplementation in a single patient

C. Ferreira, I. Chang, Anna I. Scott, 2020, Molecular Genetics and Metabolism Reports.

Congenital pleuropulmonary blastoma in a newborn with a variant of uncertain significance in DICER1 evaluated by RNA-sequencing

Mihai Puia-Dumitrescu, Danny E. Miller, Mallory R. Taylor, 2023, Maternal Health, Neonatology and Perinatology.

Subdural hemorrhage, macrocephaly, rash, and developmental delay in an infant: A pathogenic variant in NLRP3 causes CINCA/NOMID

K. Feldman, S. Canny, Danny E. Miller, 2023, American journal of medical genetics. Part A.