P. Arn

发表

Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1.

C. Schwartz, S. Colman, M. Wallace, 1998, Journal of medical genetics.

Phenotypic variability in deficiency of the α subunit of succinate‐CoA ligase

S. Waisbren, D. Harris, P. Arn, 2019, JIMD reports.

Analysis of DNA restriction fragments greater than 5.7 Mb in size from the centromeric region of human chromosomes

D. Schwartz, E. Jabs, P. Arn, 2004, Mammalian Genome.

comprehensive newborn screening is not yet available.

P. Arn, 2007 .

Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry

P. Kaplan, P. Arn, R. Giugliani, 2012, European Journal of Pediatrics.

deletions in neurofibromatosis type 1 . Constitutional and mosaic large NF 1 gene

C. R. Abernathy, C. Schwartz, S. Colman, 2022 .

The macromolecular organization of human centromeric regions.

D. Schwartz, E. Jabs, P. Arn, 1989, Progress in clinical and biological research.

Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.

E. Zackai, B. Korf, V. Narayanan, 2009, JAMA.

Methylenetetrahydrofolate reductase deficiency in a patient with phenotypic findings of Angelman syndrome.

D. J. Driscoll, C. Williams, P. Arn, 1998, American journal of medical genetics.

Characterization of human centromeric regions using restriction enzyme banding, alphoid DNA and structural alterations.

E. Jabs, P. Arn, 1990, Molecular biology & medicine.

Mutations in the TGF-β Repressor SKI Cause Shprintzen-Goldberg Syndrome with Aortic Aneurysm

Seneca L. Bessling, A. McCallion, M. Caulfield, 2012, Nature Genetics.

Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

W. Chung, M. Watson, P. Arn, 2019 .

Hyperammonemia in women with a mutation at the ornithine carbamoyltransferase locus. A cause of postpartum coma.

S. Brusilow, P. Arn, G. Thomas, 1990, The New England journal of medicine.

The MPS I registry: design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I.

Joseph Muenzer, Elsa Shapiro, Janet Thomas, 2007, Molecular genetics and metabolism.

High rate of postoperative mortality in patients with mucopolysaccharidosis I: findings from the MPS I Registry.

H. W. Webb, P. Arn, J. E. Wraith, 2012, Journal of pediatric surgery.

The natural history of MPS I: global perspectives from the MPS I Registry

P. Arn, R. Giugliani, T. Okuyama, 2014, Genetics in Medicine.

Characterization of surgical procedures in patients with mucopolysaccharidosis type I: findings from the MPS I Registry.

P. Arn, J. E. Wraith, J. Wraith, 2009, The Journal of pediatrics.

Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics

W. Chung, M. Watson, S. B. Wechsler, 2014, Genetics in Medicine.

Hyperphenylalaninemia with high levels of 7-biopterin is associated with mutations in the PCBD gene encoding the bifunctional protein pterin-4a-carbinolamine dehydratase and transcriptional coactivator (DCoH).

N. Blau, J. Ayling, P. Arn, 1998, American journal of human genetics.

Outcome of pectus excavatum in patients with Marfan syndrome and in the general population.

J. Haller, R. Pyeritz, P. Arn, 1989, The Journal of pediatrics.

SRVX, a sex reversing locus in Xp21.2→p22.11

S. Wachtel, Shibo Li, P. Arn, 1994, Human Genetics.

Recessive Mutations in PCBD1 Cause a New Type of Early-Onset Diabetes

N. Hübner, F. Spagnoli, N. Blau, 2014, Diabetes.

Reproductive outcome in 3 families with a satellited chromosome 4 with review of the literature.

P. Arn, S. Russo, J. Zackowski, 1995, American journal of medical genetics.

Spectrum of Phenotypic Manifestations from a Single Point Mutation of the p63 Gene, Including New Cutaneous and Immunologic Findings

P. Arn, J. Steele, P. Kwong, 2005, Pediatric dermatology.

Mild mandibulofacial dysostosis in a child with a deletion of 3p.

E. Jabs, P. Arn, C. Mankinen, 1993, American journal of medical genetics.

Increased occurrence of cleft lip in glycogen storage disease type II (GSDII): exclusion of a contiguous gene syndrome in two patients by presence of intragenic mutations including a novel nonsense mutation Gln58Stop.

P. Arn, C. Greenberg, R. Hirschhorn, 1999, American journal of medical genetics.

P. Arn, J. E. Wraith, I. Bruce, 2015, The Annals of otology, rhinology, and laryngology.

Genetic Abnormalities and Congenital Malformations as a Cause of Cerebral Palsy

P. Arn, Kristen Ferriero, 2019, Cerebral Palsy.

Glycogen Storage Disease Type III diagnosis and management guidelines

W. Chung, M. Watson, S. B. Wechsler, 2010, Genetics in Medicine.

Hepatocellular carcinoma in glycogen storage disease type Ia: A case series

D. Frush, P. Arn, Yuan-Tsong Chen, 2005, Journal of Inherited Metabolic Disease.

Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome

C. Ferreira, A. Gezdirici, P. Arn, 2019, Journal of Medical Genetics.

Surgical management of children and young adults with Marfan syndrome and pectus excavatum.

J. Haller, P. Arn, L. Scherer, 1988, Journal of pediatric surgery.

Key Considerations for Selecting a Genomic Decision Support Platform for Implementing Pharmacogenomics

K. Gripp, P. Arn, V. Funanage, 2021, Clinical pharmacology and therapeutics.

3-methylglutaconic aciduria disorders: the clinical spectrum increases.

P. Arn, V. Funanage, 2006, Journal of pediatric hematology/oncology.

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

Ellen F. Macnamara, Theodore G. Drivas, J. Constantino, 2023, Science advances.

TANGO2 Mutation: A Genetic Cause of Multifocal Combined Dystonia

I. Malaty, P. Arn, A. Wagle Shukla, 2021, Movement disorders clinical practice.

Newborn screening: current status.

P. Arn, Pamela H Arn, 2007, Health affairs.

Recessive mutations in PCBD 1 cause a new type of early-onset diabetes Short title : PCBD 1 mutations cause diabetes

N. Hübner, F. Spagnoli, N. Blau, 2014 .

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms

I. Krantz, E. Roeder, J. Graham, 2023, American journal of medical genetics. Part A.

Methylenetetrahydrofolate reductase deficiency in a patient with phenotypic findings of Angelman syndrome.

D. J. Driscoll, P. Arn, R. Zori, 1998, American journal of medical genetics.

Education format and resource preferences among registrants of a pediatric-focused CME website

P. Arn, Jason J. Olivieri, Melissa B Knoll, 2009, Medical teacher.

Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics

W. Chung, S. B. Wechsler, P. Arn, 2014, Genetics in Medicine.