J. Goldstein

发表

Evaluating the clinical validity of gene-disease associations: an evidence-based framework developed by the Clinical Genome Resource

J. Michael Cherry, Heidi L. Rehm, Erin Rooney Riggs, 2017, bioRxiv.

Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes

C. Caleshu, J. Ware, Q. Wells, 2019, Circulation. Genomic and precision medicine.

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios

Yujun Han, Doron Lancet, Elon Pras, 2015, Genetics in Medicine.

Human Exposure to Selected Animal Neurocarcinogens: A Biomarker-Based Assessment and Implications for Brain Tumor Epidemiology

P. Vineis, D. Bigner, F. Davis, 2009, Journal of toxicology and environmental health. Part B, Critical reviews.

Lumping versus splitting: How to approach defining a disease to enable accurate genomic curation

Marina T. DiStefano, H. Rehm, A. Hamosh, 2022, Cell genomics.

Treatment outcome of creatine transporter deficiency: international retrospective cohort study

K. Õunap, D. Koeberl, A. Schulze, 2018, Metabolic brain disease.

Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study.

J. Abdenur, M. Tassini, N. Dorison, 2018, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Complex III deficiency due to an in-frame MT-CYB deletion presenting as ketotic hypoglycemia and lactic acidosis☆

D. Koeberl, E. Bossen, J. Goldstein, 2015, Molecular genetics and metabolism reports.

The Alström syndrome. Report of three cases with further delineation of the clinical, pathophysiological, and genetic aspects of the disorder.

J. Goldstein, P. Fialkow, 1973, Medicine.

Clinical and Molecular Variability in Patients with PHKA2 Variants and Liver Phosphorylase b Kinase Deficiency.

C. Rehder, D. Bali, P. Kishnani, 2017, JIMD reports.

Predicting cross‐reactive immunological material (CRIM) status in Pompe disease using GAA mutations: Lessons learned from 10 years of clinical laboratory testing experience

C. Rehder, D. Bali, P. Kishnani, 2012, American journal of medical genetics. Part C, Seminars in medical genetics.

Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder

E. Lemyre, P. Kang, Yuan-Tsong Chen, 2010, Journal of Inherited Metabolic Disease.

Which came first: validity or clinical testing? The example of long QT genes

J. Berg, Julianne M. O’Daniel, A. K. Foreman, 2018 .

Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease

D. Stockton, M. Gambello, N. Leslie, 2019, Genetics in Medicine.

Assessing disease severity in Pompe disease: The roles of a urinary glucose tetrasaccharide biomarker and imaging techniques

C. Rehder, P. Laforêt, D. Millington, 2012, American journal of medical genetics. Part C, Seminars in medical genetics.

Molecular analysis and protein processing in late‐onset pompe disease patients with low levels of acid α‐glucosidase activity

D. Bali, P. Kishnani, J. Goldstein, 2011, Muscle & nerve.

Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.

E. Cirulli, C. Rehder, D. Bali, 2017, Molecular genetics and metabolism.

Clinical laboratory experience of blood CRIM testing in infantile Pompe disease

C. Rehder, D. Bali, P. Kishnani, 2015, Molecular genetics and metabolism reports.

Baseline Urinary Glucose Tetrasaccharide Concentrations in Patients with Infantile- and Late-Onset Pompe Disease Identified by Newborn Screening.

Y. Chien, W. Hwu, P. Smith, 2015, JIMD reports.

Blood‐based diagnostic testing for Pompe disease: Consistency between GAA enzyme activity in dried blood spots and GAA gene sequencing results

C. Rehder, D. Bali, P. Kishnani, 2014, Muscle & nerve.

Glycogen Storage Disease Type I

Yuan-Tsong Chen, D. Bali, J. Goldstein, 2016, Definitions.

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 .

AMG 900, pan-Aurora kinase inhibitor, preferentially inhibits the proliferation of breast cancer cell lines with dysfunctional p53

A. Børresen-Dale, A. Langerød, J. Dering, 2013, Breast Cancer Research and Treatment.

Genetics of Autism Spectrum Disorders: The Opportunity and Challenge in the Genetics Clinic

S. Cheung, Xiu Xu, Yong-hui Jiang, 2015 .

Epigenetic dysregulation of SHANK3 in brain tissues from individuals with autism spectrum disorders.

Yi-Ju Li, Hyuna Yang, Yong-hui Jiang, 2014, Human molecular genetics.

Epigenetic dysregulation of SHANK 3 in brain tissues from individuals with autism spectrum disorders

Yi-Ju Li, Hyuna Yang, Yong-hui Jiang, 2014 .

Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients.

E. Thorland, N. Lindor, D. Dawson, 2003, American journal of human genetics.

The progression of the ClinGen gene clinical validity classification over time

J. Berg, C. Thaxton, J. Goldstein, 2018, Human mutation.

Variant interpretation is a component of clinical practice among genetic counselors in multiple specialties

Danielle R Azzariti, B. Lepore, Julianne M. O’Daniel, 2019, Genetics in Medicine.

Chromosomal Microarray Analysis in Clinical Evaluation of Neurodevelopmental Disorders-Reporting a Novel Deletion of SETDB1 and Illustration of Counseling Challenge

Xiu Xu, C. Rehder, Heather Labreche, 2016, Pediatric Research.

Subtelomeric deletion of chromosome 10p15.3: Clinical findings and molecular cytogenetic characterization

J. Rosenfeld, I. Krantz, N. Spinner, 2012, American journal of medical genetics. Part A.

Launch of the gene curation coalition database

Fiona Cunningham, Ewan Birney, Heidi L. Rehm, 2021 .

Molecular analysis of the AGL gene: Identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III

C. Rehder, D. Bali, P. Kishnani, 2010, Genetics in Medicine.

ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines

Diane B. Zastrow, Helio A. Costa, Marina T. DiStefano, 2022, Genome Medicine.

ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines

Diane B. Zastrow, Helio A. Costa, Marina T. DiStefano, 2021, medRxiv.

Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene.

C. Rehder, D. Bali, D. A. Weinstein, 2014, Molecular genetics and metabolism.

Association of platelet-derived growth factor receptor alpha mutations with gastric primary site and epithelioid or mixed cell morphology in gastrointestinal stromal tumors.

E. Wardelmann, C. Manegold, P. Hohenberger, 2004, The Journal of molecular diagnostics : JMD.

Glycogen storage disease type IX: novel PHKA2 missense mutation and cirrhosis.

D. Bali, J. Goldstein, Abiodun O. Johnson, 2012, Journal of pediatric gastroenterology and nutrition.

Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency.

M. den Heijer, R. Wevers, S. Wortmann, 2011, Molecular genetics and metabolism.

New observation of sialuria prompts detection of liver tumor in previously reported patient.

R. Stevenson, M. Huizing, Nansheng Chen, 2016, Molecular genetics and metabolism.

Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiency.

D. Millington, A. Schlune, D. Koeberl, 2013, Molecular genetics and metabolism.

CORRIGENDUM: CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy

C. Rehder, N. Karabul, D. Bali, 2015, Genetics in Medicine.

CRIM-negative infantile Pompe disease: Characterization of immune responses in patients treated with ERT monotherapy

C. Rehder, N. Karabul, D. Bali, 2015, Genetics in Medicine.

Evaluating the strength of evidence for genes implicated in peroxisomal disorders using the ClinGen clinical validity framework and providing updates to the peroxisomal disease nomenclature.

Lora J. H. Bean, Meredith A. Weaver, A. Moser, 2021, Molecular genetics and metabolism.

Screening for pompe disease using a rapid dried blood spot method: Experience of a clinical diagnostic laboratory

D. Millington, D. Bali, P. Kishnani, 2009, Muscle & nerve.

The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources

Carol A. Bocchini, Marina T. DiStefano, E. Birney, 2022, medRxiv.

Incontinentia pigmenti in a boy with XXY mosaicism detected by fluorescence in situ hybridization.

M. McDonald, M. Selim, J. Goldstein, 2006, Journal of American Academy of Dermatology.

Variant Interpretation is a Component of Clinical Practice Among Genetic Counselors in Multiple Specialties

Danielle R Azzariti, B. Lepore, C. Martin, 2019, Genetics in Medicine.

Treatment outcome of creatine transporter deficiency: international retrospective cohort study

K. Õunap, D. Koeberl, A. Schulze, 2018, Metabolic Brain Disease.

Evaluating the clinical validity of gene-disease associations: an evidence-based framework developed by the Clinical Genome Resource

J. Michael Cherry, Avni Santani, Heidi L. Rehm, 2017, bioRxiv.

Predicting Cross Reactive Immunological Material (CRIM) Status in Pompe Disease Using GAA Mutations: Lessons Learned from 10 Years of Clinical Laboratory Testing Experience

C. Rehder, P. Kishnani, J. Goldstein, 2012 .

Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene.

C. Rehder, D. Bali, A. Boneh, 2014, Molecular genetics and metabolism.