J. Charrow

J. Charrow, R. Listernick, Reut Parness-Yossifon, 2015, Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus.

Orbital optic nerve gliomas in children with neurofibromatosis type 1.

J. Charrow, S. Goldman, R. Listernick, 2006, Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus.

Once- versus twice-daily dosing of eliglustat in adults with Gaucher disease type 1: The Phase 3, randomized, double-blind EDGE trial.

J. Charrow, N. Longo, Xuefan Gu, 2018, Molecular genetics and metabolism.

Knowledge without truth: Screening for complications of neurofibromatosis type 1 in childhood

J. Charrow, R. Listernick, 2004, American journal of medical genetics. Part A.

Carboplatin Therapy for Optic Pathway Tumors in Children with Neurofibromatosis Type-1

J. Charrow, T. Tomita, S. Goldman, 2004, Journal of Neuro-Oncology.

Emergence of optic pathway gliomas in children with neurofibromatosis type 1 after normal neuroimaging results.

J. Charrow, M. Greenwald, R. Listernick, 1992, The Journal of pediatrics.

Neurofibromatosis type 1 in childhood.

J. Charrow, R. Listernick, R. Listernick, 1990, The Journal of pediatrics.

Late onset GM2 gangliosidosis: an α‐locus genetic compound with near normal hexosaminidase activity

J. Charrow, D. Wenger, K. Inui, 1985, Clinical genetics.

Growth Hormone Excess in Children with Optic Pathway Tumors Is a Transient Phenomenon

J. Charrow, R. Habiby, R. Listernick, 2016, Hormone Research in Paediatrics.

Home infusion of intravenous velaglucerase alfa: Experience from pooled clinical studies in 104 patients with type 1 Gaucher disease.

J. Charrow, A. Mehta, T. Burrow, 2017, Molecular genetics and metabolism.

Recommendations for the use of eliglustat in the treatment of adults with Gaucher disease type 1 in the United States.

P. Kaplan, J. Ruskin, J. Charrow, 2016, Molecular genetics and metabolism.

Long‐term treatment outcomes in Gaucher disease

J. Charrow, C. Scott, 2015, American journal of hematology.

The effect of enzyme replacement therapy on bone crisis and bone pain in patients with type 1 Gaucher disease

J. Charrow, G. Grabowski, N. Weinreb, 2007, Clinical genetics.

Documented Transient Third-Degree Atrioventricular Block and Asystole in a Child with Familial Dysautonomia

J. Charrow, B. Deal, A. Rotstein, 2007, Pediatric Cardiology.

Prevalence of type 1 Gaucher disease in the United States.

P. Kaplan, J. Charrow, H. Andersson, 2008, Archives of internal medicine.

Ashkenazi Jewish genetic disorders

J. Charrow, 2004, Familial Cancer.

Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants.

J. Charrow, B. Burton, G. Hoganson, 2020, International journal of neonatal screening.

Safety and efficacy results of switch from imiglucerase to velaglucerase alfa treatment in patients with type 1 Gaucher disease

Laurie D. Smith, T. Hangartner, J. Charrow, 2015, American journal of hematology.

Gaucher disease type 1 patients from the ICGG Gaucher Registry sustain initial clinical improvements during twenty years of imiglucerase treatment.

J. Charrow, P. Mistry, N. Belmatoug, 2021, Molecular genetics and metabolism.

C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia.

J. Charrow, K. Larimore, M. Irving, 2019, The New England journal of medicine.

Lifespan Development: Symptoms Experienced by Individuals with Neurofibromatosis Type 1 Associated Plexiform Neurofibromas from Childhood into Adulthood

J. Lai, J. Charrow, S. Jensen, 2018, Journal of clinical psychology in medical settings.

Using a qualitative approach to conceptualize concerns of patients with neurofibromatosis type 1 associated plexiform neurofibromas (pNF) across the lifespan

J. Lai, J. Charrow, S. Jensen, 2017, American journal of medical genetics. Part A.

Uncombable hair (pili trianguli et canaliculi): evidence for dominant inheritance with complete penetrance based on scanning electron microscopy.

J. Charrow, D. Fretzin, A. Hebert, 1987, American journal of medical genetics.

Biochemical abnormalities in rhizomelic chondrodysplasia punctata.

A. Moser, J. Charrow, P. Watkins, 1988, The Journal of pediatrics.

Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements

P. Kaplan, J. Charrow, G. Andria, 2004, European Journal of Pediatrics.

Autosomal dominant multiple café-au-lait spots and neurofibromatosis-1: evidence of non-linkage.

J. Charrow, K. Ward, R. Listernick, 1993, American journal of medical genetics.

β-Glucocerebrosidase Modulators Promote Dimerization of β-Glucocerebrosidase and Reveal an Allosteric Binding Site.

N. Kelleher, D. Krainc, J. Charrow, 2018, Journal of the American Chemical Society.

Enzyme Replacement Therapy in Gaucher Disease: Beneficial Effects on Bone Crisis and Bone Pain.

J. Charrow, G. Grabowski, N. Weinreb, 2004 .

Enzyme replacement therapy for Gaucher disease

J. Charrow, 2009, Expert opinion on biological therapy.

Acceleration of retarded growth in children with Gaucher disease after treatment with alglucerase.

O Manor, P. Kaplan, J. Charrow, 1996, The Journal of pediatrics.

Paediatric non-neuronopathic Gaucher disease: recommendations for treatment and monitoring

P. Kaplan, K. McHugh, J. Charrow, 2004, European Journal of Pediatrics.

Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.

D. Lockhart, S. Packman, R. Schiffmann, 2016, The New England journal of medicine.

Visual outcomes in children with neurofibromatosis type 1-associated optic pathway glioma following chemotherapy: a multicenter retrospective analysis.

Uri Tabori, Joel Charrow, Eric Bouffet, 2012, Neuro-oncology.

Neural crest anomaly syndromes in children with spina bifida.

J. Charrow, D. Mclone, J. Nye, 1999, Teratology.

Myelomeningocele and Waardenburg syndrome (type 3) in patients with interstitial deletions of 2q35 and the PAX3 gene: possible digenic inheritance of a neural tube defect.

J. Charrow, D. Mclone, J. Nye, 1998, American journal of medical genetics.

The genetics of tethered cord syndrome

D. Stephan, A. Bassuk, J. Charrow, 2005, American journal of medical genetics. Part A.

SAT-LB18 A Randomized Controlled Trial of Vosoritide in Children With Achondroplasia

J. Charrow, M. Irving, K. White, 2020, Journal of the Endocrine Society.

Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial

J. Charrow, M. Irving, K. White, 2020, The Lancet.

Neuroimaging findings in children with rare or novel de novo chromosomal anomalies.

L. Shaffer, A. Bassuk, J. Coppinger, 2008, Birth defects research. Part A, Clinical and molecular teratology.

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

M. Reijnders, W. Chung, A. Munnich, 2020, Genetics in Medicine.

Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study.

J. Charrow, M. Irving, K. White, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study

J. Charrow, M. Irving, K. White, 2021, Genetics in Medicine.

Gender as a disease modifier in neurofibromatosis type 1 optic pathway glioma

Michael Fisher, R. Hoffman, J. Charrow, 2014, Annals of neurology.

Neurofibromatosis type 1 and high-grade tumors of the central nervous system

J. Charrow, S. Goldman, R. Listernick, 2010, Child's Nervous System.

Surgical Treatment of Patients with Lobar Holoprosencephaly: A Personal Note

J. Charrow, J. Pensler, S. Giese, 1993, The Journal of craniofacial surgery.

Carrier screening in the era of expanding genetic technology

J. Charrow, Aishwarya Arjunan, Karen Litwack, 2016, Genetics in Medicine.

Population‐based Tay‐Sachs screening among Ashkenazi Jewish young adults in the 21st century: Hexosaminidase a enzyme assay is essential for accurate testing

J. Charrow, J. Hoffman, N. Schreiber-Agus, 2009, American journal of medical genetics. Part A.

Knowledge and Attitudes Toward a Free Education and Ashkenazi Jewish Carrier Testing Program

K. Ormond, J. Charrow, C. Fairley, 2006, Journal of Genetic Counseling.

Genetics Professionals’ Opinions of Whole-Genome Sequencing in the Newborn Period

W. G. Feero, J. Charrow, C. Wicklund, 2015, Journal of Genetic Counseling.

Fabry disease: Baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry

D. Sillence, J. Charrow, C. Eng, 2007, Journal of Inherited Metabolic Disease.

Tandem mass spectrometry in newborn screening: American College of Medical Genetics/American Society of Human Genetics Test and Technology Transfer Committee Working Group

Joel Charrow, Piero Rinaldo, J. Charrow, 2000, Genetics in Medicine.

Schaaf‐Yang syndrome overview: Report of 78 individuals

J. Charrow, C. Schaaf, T. Roscioli, 2018, American journal of medical genetics. Part A.

Intracranial gliomas in neurofibromatosis type 1.

J. Charrow, D. Gutmann, D H Gutmann, 1999, American journal of medical genetics.

Transcript analysis for variant classification resolution in a child with primary ciliary dyskinesia

J. Charrow, D. Kirschmann, Sabah Kadri, 2021, Cold Spring Harbor molecular case studies.

Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.

N. Guex, N. Brown, W. Chung, 2021, American journal of human genetics.

Variants in the degron of AFF3 cause a multi-system disorder with mesomelic dysplasia, horseshoe kidney and developmental and epileptic encephalopathy

N. Guex, N. Brown, W. Chung, 2019, bioRxiv.

Partial Trisomy 14 (q23->qter) via Segregation of a 14/X Translocation

J. Charrow, M. Cohen, N. Balkin, 2006 .

Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment

J. Charrow, J. Goldblatt, C. Hollak, 2013, Journal of Inherited Metabolic Disease.

Long-term effects of eliglustat on skeletal manifestations in clinical trials of patients with Gaucher disease type 1.

J. Charrow, P. Mistry, M. Foster, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Diagnostic evaluation, monitoring, and perioperative management of spinal cord compression in patients with Morquio syndrome.

J. Charrow, A. Offiah, R. Manara, 2015, Molecular genetics and metabolism.

Long-term velaglucerase alfa treatment in children with Gaucher disease type 1 naïve to enzyme replacement therapy or previously treated with imiglucerase.

Laurie D. Smith, T. Hangartner, J. Charrow, 2016, Molecular genetics and metabolism.

Early speech delay and hepatitis as presenting signs of homocystinuria.

J. Charrow, C. Mack, K. Emerick, 1999, Journal of pediatric gastroenterology and nutrition.

Fanconi–Bickel syndrome: Report of life history and successful pregnancy in an affected patient

J. Charrow, L. Pena, 2011, American journal of medical genetics. Part A.

Real‐world effectiveness of eliglustat in treatment‐naïve and switch patients enrolled in the International Collaborative Gaucher Group Gaucher Registry

J. Charrow, C. Niederau, M. Balwani, 2020, American journal of hematology.

Patient Reported Outcomes Measurement Information System and Quality of Life in Neurological Disorders Measurement System to Evaluate Quality of Life for Children and Adolescents with Neurofibromatosis Type 1 Associated Plexiform Neurofibroma

J. Lai, J. Charrow, S. Jensen, 2019, The Journal of pediatrics.

The Jansen type of metaphyseal chondrodysplasia: confirmation of dominant inheritance and review of radiographic manifestations in the newborn and adult.

A. Poznanski, J. Charrow, 1984, American journal of medical genetics.

Cervical spinal cord compression in infants with achondroplasia: should neuroimaging be routine?

J. Charrow, S. Sheldon, Victoria R. Sanders, 2018, Genetics in Medicine.

Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency

J. Charrow, Ayesha Ahmad, J. Vockley, 2007, Genetics in Medicine.

Translocations in Prader‐WiIIi syndrome

J. Charrow, N. Balkin, M. Cohen, 1983 .

Translocations in Prader-Willi syndrome.

J. Charrow, M. Cohen, N. Balkin, 1983, Clinical genetics.

When is a test result abnormal? Defining limits and risks.

L. Hedges, J. Charrow, 1990, American journal of diseases of children.

Cardiomyopathy and skeletal myopathy in an unusual variant of GM1 gangliosidosis.

J. Charrow, M. Hvizd, 1986, Jornal de Pediatria.

Risk factors for severe clinical events in male and female patients with Fabry disease treated with agalsidase beta enzyme replacement therapy: Data from the Fabry Registry.

J. Charrow, D. Warnock, R. Hopkin, 2016, Molecular genetics and metabolism.

ESPE Position Statement for Paediatric Endocrinology Subspecialty

L. Federici, J. Charrow, T. Battelino, 2016, Hormone Research in Paediatrics.

Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1.

J. Charrow, P. Maison-Blanche, H. Baris, 2018, Blood cells, molecules & diseases.

Reply to: Precocious puberty, growth hormone deficiency, and neurofibromatosis

J. Charrow, B. Silverman, R. Habiby, 1996 .

A 14-year-old boy with pain in hands and feet.

J. Charrow, 2009, Pediatric annals.

Pedal hemangiomas in Turner syndrome.

J. Charrow, A. Paller, N. Esterly, 1983, The Journal of pediatrics.

Partial trisomy 14 (q23 leads to qter) via segregation of a 14/X translocation.

J. Charrow, M. Cohen, N. Balkin, 1983, American Journal of Human Genetics.

Duplication 3p syndrome: report of a new case and review of the literature.

J. Charrow, M. Cohen, D. Meeker, 1981, American journal of medical genetics.

Safety and efficacy of alternative alglucosidase alfa regimens in Pompe disease

J. Clancy, J. Charrow, C. Tifft, 2015, Neuromuscular Disorders.

Neurofibromatosis type I and precocious puberty: beyond the chasm.

J. Charrow, B. Silverman, R. Habiby, 1997, The Journal of pediatrics.

Open-label extension study following the Late-Onset Treatment Study (LOTS) of alglucosidase alfa.

A. Pestronk, J. Charrow, H. Plotkin, 2012, Molecular genetics and metabolism.

Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease

S. Packman, J. Charrow, R. Desnick, 2015, Journal of Medical Genetics.

Oligosaccharyltransferase complex‐congenital disorders of glycosylation: A novel congenital disorder of glycosylation

G. Carvill, J. Charrow, J. Millichap, 2020, American journal of medical genetics. Part A.

Risk factors for severe clinical events in male and female patients with Fabry disease treated with agalsidase beta enzyme replacement therapy: Data from the Fabry Registry.

J. Charrow, D. Warnock, R. Hopkin, 2016, Molecular genetics and metabolism.

Long‐term treatment outcomes in Gaucher disease

J. Charrow, C. Scott, 2015, American journal of hematology.

Recommendations for the use of eliglustat in the treatment of adults with Gaucher disease type 1 in the United States.

P. Kaplan, J. Ruskin, J. Charrow, 2016, Molecular genetics and metabolism.

Masquerading Acidosis After Cardiopulmonary Bypass

J. Charrow, C. Epting, J. Costello, 2015, World journal for pediatric & congenital heart surgery.

Safety and efficacy results of switch from imiglucerase to velaglucerase alfa treatment in patients with type 1 Gaucher disease

Laurie D. Smith, T. Hangartner, J. Charrow, 2015, American journal of hematology.

Long-term velaglucerase alfa treatment in children with Gaucher disease type 1 naïve to enzyme replacement therapy or previously treated with imiglucerase.

Laurie D. Smith, T. Hangartner, J. Charrow, 2016, Molecular genetics and metabolism.

Gender as a disease modifier in neurofibromatosis type 1 optic pathway glioma

Michael Fisher, R. Hoffman, J. Charrow, 2014, Annals of Neurology.

C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia.

J. Charrow, K. Larimore, M. Irving, 2019, The New England journal of medicine.

Long-term effectiveness of eliglustat treatment: A real-world analysis from the International Collaborative Gaucher Group Gaucher Registry.

J. Charrow, M. Balwani, Jeremy Lorber, 2024, American journal of hematology.

Myelocystocele-cloacal exstrophy in a pedigree with a mitochondrial 12S rRNA mutation, aminoglycoside-induced deafness, pigmentary disturbances, and spinal anomalies.

A. Pandya, J. Charrow, M. Speer, 2000, Teratology.

Correction of enzyme levels with allogeneic hematopoeitic progenitor cell transplantation in Niemann‐Pick type B

J. Charrow, J. Schneiderman, K. Thormann, 2007, Pediatric blood & cancer.