Professor, Pediatrics, Perelman School of Medicine

Medical Genetics

Krantz works in the field of Medical Genetics. He attended NYU School of Medicine. He over the years received 1 awards: "Fellow (FAAP)". Dr. Ian D. Krantz is a published MD. He has 100 papers published. The most current publication "Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families."

Publications

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• Drosophila Nipped-B Mutants Model Cornelia de Lange Syndrome in Growth and Behavior.
• Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin.
• Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation-negative patient with clinically diagnosed Alagille syndrome.
• Heterozygous Deletion of FOXA2 Segregates with Disease in a Family with Heterotaxy, Panhypopituitarism, and Biliary Atresia.
• NKX2.5 mutation identification on exome sequencing in a patient with heterotaxy.
• 12p microRNA expression in fibroblast cell lines from probands with Pallister-Killian syndrome.
• Cornelia de Lange syndrome: Further delineation of phenotype, cohesin biology and educational focus, 5th Biennial Scientific and Educational Symposium abstracts.
• Cardiac manifestations of Pallister-Killian syndrome.
• PECONPI: A novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disorders.
• Homozygosity for the V37I GJB2 mutation in fifteen probands with mild to moderate sensorineural hearing impairment: Further confirmation of pathogenicity and haplotype...
• Immunologic features of cornelia de lange syndrome.
• Semaphorin 3d signaling defects are associated with anomalous pulmonary venous connections.
• Novel MBTPS2 Missense Mutation in the N-Terminus Transmembrane Domain in a Patient with Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome.
• Novel COCH mutation in a family with autosomal dominant late onset sensorineural hearing impairment and tinnitus.
• Duplication 12p and Pallister-Killian syndrome: A case report and review of the literature toward defining a Pallister-Killian syndrome minimal critical region.
• Novel clinical manifestations in Pallister-Killian syndrome: Comprehensive evaluation of 59 affected individuals and review of previously reported cases.
• Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister-Killian syndrome.
• HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle.
• Investigation of autistic features among individuals with mild to moderate Cornelia de Lange syndrome.
• Identification of a prenatal profile of Cornelia de Lange syndrome (CdLS): A review of 53 CdLS pregnancies.
• Alagille syndrome in a Vietnamese cohort: Mutation analysis and assessment of facial features.
• NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype-phenotype correlation.
• Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment.
• Renal anomalies in Alagille syndrome: A disease-defining feature.
• Causes of death and autopsy findings in a large study cohort of individuals with Cornelia de Lange syndrome and review of the literature.
• Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction.
• The incidence of thrombocytopenia in children with Cornelia de Lange syndrome.
• Evaluating the quality of care provided by graduates of international medical schools.
• Somatic mosaicism for PDHA1 mutation in a male with pyruvate dehydrogenase complex deficiency.
• Cohesin biology and the cohesinopathies: Abstracts from the Second Biennial Conference, Pontignano, Italy, 2009.
• Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey.
• Update on "two siblings with alternate unbalanced recombinants derived from a large cryptic maternal pericentric inversion of chromosome 20".
• Interpretation of association signals and identification of causal variants from genome-wide association studies.
• Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
• Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis.
• Genomic alterations in biliary atresia suggest region of potential disease susceptibility in 2q37.3.
• Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome.
• Two siblings with alternate unbalanced recombinants derived from a large cryptic maternal pericentric inversion of chromosome 20.
• Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease.
• SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome.
• Detailed assessment of the ear in Cornelia de Lange syndrome: comparison with a control sample using the new dysmorphology guidelines.
• FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation.
• Transcriptional dysregulation in NIPBL and cohesin mutant human cells.
• SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation.
• On the molecular etiology of Cornelia de Lange syndrome.
• Mutations in the chromatin-associated protein ATRX.
• Fine-mapping subtelomeric deletions and duplications by comparative genomic hybridization in 42 individuals.
• Bile duct anomalies in a male child with Noonan syndrome: a case for ras and notch pathway synergism.
• Cohesin and human disease.
• Novel microdeletion syndromes.
• Additional clinical manifestations in children with sensorineural hearing loss and biallelic GJB2 mutations: who should be offered GJB2 testing?
• Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance.
• Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.
• NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway.
• Outcomes of clinical examination and genetic testing of 500 individuals with hearing loss evaluated through a genetics of hearing loss clinic.
• Ophthalmologic findings in Cornelia de Lange syndrome: a genotype-phenotype correlation study.
• Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome.
• Chromosome rearrangements in cornelia de Lange syndrome (CdLS): report of a der(3)t(3;12)(p25.3;p13.3) in two half sibs with features of CdLS and review of reported Cd...
• Intracranial vascular abnormalities in patients with Alagille syndrome.
• Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome.
• NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations.
• Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome.
• Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B.
• Vascular anomalies in Alagille syndrome: a significant cause of morbidity and mortality.
• Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome.
• Monozygotic twins with a severe form of Alagille syndrome and phenotypic discordance.
• Alagille syndrome inherited from a phenotypically normal mother with a mosaic 20p microdeletion.
• Craniosynostosis in Alagille syndrome.
• Supernumerary digital flexion creases: an additional clinical manifestation of Alagille syndrome.
• Facial features in Alagille syndrome: specific or cholestasis facies?
• Alagille syndrome: chipping away at the tip of the iceberg.
• Isolated NIPBL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction.
• Genome-wide DNA methylation analysis in cohesin mutant human cell lines.
• NOTCH2 mutations in Alagille syndrome.
• Microduplications of 16p11.2 are associated with schizophrenia.
• Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis.
• A giant novel gene undergoing extensive alternative splicing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3.
• Clinical and mutational spectrum of Mowat-Wilson syndrome.
• Parental narratives on genetic testing for children with hearing loss: a qualitative inquiry.
• Assessing parental attitudes toward genetic testing for childhood hearing loss: before and after genetic consultation.
• Parental narratives of genetic testing for hearing loss: audiologic implications for clinical work with children and families.
• Natural history of aging in Cornelia de Lange syndrome.
• Dosage effects of cohesin regulatory factor PDS5 on mammalian development: implications for cohesinopathies.
• Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA.
• Rare variants create synthetic genome-wide associations.
• Pyrosequencing for detection of mutations in the connexin 26 (GJB2) and mitochondrial 12S RNA (MTRNR1) genes associated with hereditary hearing loss.
• Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate.
• Consequences of JAG1 mutations.
• Jagged1 mutations in patients ascertained with isolated congenital heart defects.
• Dominant paternal transmission of Cornelia de Lange syndrome: a new case and review of 25 previously reported familial recurrences.
• Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families.
• Jagged1 mutations in alagille syndrome.
• Chromosomal localization, genomic characterization, and mapping to the Noonan syndrome critical region of the human Deltex (DTX1) gene.
• Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients.
• Exclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange syndrome.
• Alagille syndrome.
• Deletions of 20p12 in Alagille syndrome: frequency and molecular characterization.
• Mutations in the human Jagged1 gene are responsible for Alagille syndrome.
• Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1.

Doctors Specialties

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• Clinical Cytogenetics
• Clinical Genetics
• Pediatrics
• Medical Genetics

Accepted Insurances

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Awards

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• Fellow (FAAP)

Education

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• NYU School of Medicine
• Tel Aviv University Sackler

Hospital

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• Hospital of the University of Pennsylvania
• Pennsylvania Hospital

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