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Author Details

Ian D Krantz
Children's Hospital of Philadelphia
1996
230
57
PMIDPaper TitleJournal TitlePublished Year
35921603Ocular Biomarkers of Riboflavin Transporter Deficiency.J Neuroophthalmol2023
37808847Heterozygous loss-of-function <i>SMC3</i> variants are associated with variable and incompletely penetrant growth and developmental features.medRxiv2023
37961560CTCF/cohesin organize the ground state of chromatin-nuclear speckle association.bioRxiv2023
37154160Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition.JCI Insight2023
37212523Retrospective identification of patients with SRRM2-related neurodevelopmental disorder in a single tertiary children's hospital.Am J Med Genet A2023
37377026Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.Am J Med Genet A2023
37172641CFAP45, a heterotaxy and congenital heart disease gene, affects cilia stability.Dev Biol2023
37473993Comprehensive Gene Panel Testing for Hearing Loss in Children: Understanding Factors Influencing Diagnostic Yield.J Pediatr2023
36521972Improved management through a better understanding of mortality risk and causes in inborn errors of metabolism.J Pediatr2023
36794641Expanding the reproductive organ phenotype of CHD7-spectrum disorder.Am J Med Genet A2023
3534155850 Years Ago in TheJournalofPediatrics: From Chromosomes to Clinical Care: Klinefelter Syndrome.J Pediatr2022
35642503Clinical Effectiveness of Telemedicine-Based Pediatric Genetics Care.Pediatrics2022
35430246The Genomics of Congenital Diaphragmatic Hernia: A 10-Year Retrospective Review.J Pediatr2022
35567594Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder.Genet Med2022
35870179Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss.Hum Mutat2022
35902925PheNominal: an EHR-integrated web application for structured deep phenotyping at the point of care.BMC Med Inform Decis Mak2022
35951321Severe Familial Exudative Vitreoretinopathy, Congenital Hearing Loss, and Developmental Delay in a Child With Biallelic Variants in FZD4.JAMA Ophthalmol2022
35314152Molecular Mechanisms Contributing to the Etiology of Congenital Diaphragmatic Hernia: A Review and Novel Cases.J Pediatr2022
3506728850 Years Ago in TheJournalofPediatrics: What's In a Name: Lessons Learned from Atypical Malformation Syndromes.J Pediatr2022
3506728350 Years Ago in TheJournalofPediatrics: Advances in the Recognition and Management of Lymphatic Complications of Noonan Syndrome.J Pediatr2022
35065284Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing?J Mol Diagn2022
34849865Disease-associated c-MYC downregulation in human disorders of transcriptional regulation.Hum Mol Genet2022
34877788Cornelia de Lange syndrome and the Cohesin complex: Abstracts from the 9th Biennial Scientific and Educational Virtual Symposium 2020.Am J Med Genet A2022
35139179Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology.Brain2022
33077891Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test results.Genet Med2021
33745059Genome-first approach to rare EYA4 variants and cardio-auditory phenotypes in adults.Hum Genet2021
34570182Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial.JAMA Pediatr2021
3479464350 Years Ago in TheJournalofPediatrics: Molecular Diagnostics Determine Underlying Genetic Etiologies for Well-Described Clinical Syndromes.J Pediatr2021
3444617350 Years Ago in TheJournalofPediatrics: I-Cell Disease: The More Things Change, the More They Stay the Same.J Pediatr2021
34274308Diversity, Equity, and Inclusion in The Journal of Pediatrics.J Pediatr2021
34006846Neuronal genes deregulated in Cornelia de Lange Syndrome respond to removal and re-expression of cohesin.Nat Commun2021
3403083750 Years Ago in TheJournalofPediatrics: Multiple Lentigines Syndrome: Historical Perspective and Contributions of Dr David W. Smith.J Pediatr2021
34111299Audiologic Phenotype and Progression in Pediatric STRC-Related Autosomal Recessive Hearing Loss.Laryngoscope2021
3430475850 Years Ago in TheJournalofPediatrics: To Every Season Turner, Turner, Turner.J Pediatr2021
33316326Structural analysis of histone deacetylase 8 mutants associated with Cornelia de Lange Syndrome spectrum disorders.J Struct Biol2021
33369123Alagille syndrome and risk for hepatocellular carcinoma: Need for increased surveillance in adults with mild liver phenotypes.Am J Med Genet A2021
33369054Ciliopathies: Coloring outside of the lines.Am J Med Genet A2021
31408044Perspective on the Development of a Large-Scale Clinical Data Repository for Pediatric Hearing Research.Ear Hear2020
31729128Professor Laird Jackson, M.D., FFACMG (Physician, Scientist, Educator, and Advocate): 1930-2019.Am J Med Genet A2020
31857706Correction: DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract.Genet Med2020
32102930A Centralized Approach for Practicing Genomic Medicine.Pediatrics2020
31911672Diagnosing Cornelia de Lange syndrome and related neurodevelopmental disorders using RNA sequencing.Genet Med2020
33043588EP300-related Rubinstein-Taybi syndrome: Highlighted rare phenotypic findings and a genotype-phenotype meta-analysis of 74 patients.Am J Med Genet A2020
32553196De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.Am J Hum Genet2020
32442410De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.Am J Hum Genet2020
31527676Clinical utility of exome sequencing in infantile heart failure.Genet Med2020
30580808Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.Am J Hum Genet2019
31474318Redefining the Etiologic Landscape of Cerebellar Malformations.Am J Hum Genet2019
31263215DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract.Genet Med2019
31517052Disruption of cardiac thin filament assembly arising from a mutation in <i>LMOD2</i>: A novel mechanism of neonatal dilated cardiomyopathy.Sci Adv2019
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Collaborators

The Perelman School of Medicine at the University of Pennsylvania
Co-authored papers 65
Children's Hospital of Philadelphia
Co-authored papers 28
The Children's Hospital of Philadelphia
Co-authored papers 25
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Co-authored papers 21
The Center for Applied Genomics, Children's Hospital of Philadelphia
Co-authored papers 15
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Co-authored papers 10
University of California San Francisco
Co-authored papers 9
Children's Hospital of Philadelphia
Co-authored papers 9
Children's Hospital of Philadelphia, University of Pennsylvania
Co-authored papers 9
Co-authored papers 8
The Broad Institute of MIT and Harvard
Co-authored papers 8
Co-authored papers 8
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 7
Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit
Co-authored papers 7
Stowers Institute for Medical Research
Co-authored papers 5
Co-authored papers 5
Co-authored papers 5
Co-authored papers 5
Thomas Jefferson University
Co-authored papers 5
Seattle Children's Hospital.
Co-authored papers 4
Baylor College of Medicine
Co-authored papers 4
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National Human Genome Research Institute, National Institutes of Health
Co-authored papers 4
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University of North Carolina
Co-authored papers 4
Brigham and Women's Hospital, Broad Institute Ariadne Labs and Harvard Medical School
Co-authored papers 4
University of Texas Southwestern Medical Center
Co-authored papers 4
University of Washington Medical Center
Co-authored papers 4
Western General Hospital
Co-authored papers 3
University College Dublin
Co-authored papers 3