Ian Krantz

Ian Krantz

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Ian Krantz

Publications by authors named "Ian Krantz"

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Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification.

Hum Mutat 2019 Jul 25. Epub 2019 Jul 25.

Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia and The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/humu.23879DOI Listing
July 2019

Expanded non-invasive prenatal diagnostics.

Nat Med 2019 03;25(3):361-362

Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

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http://dx.doi.org/10.1038/s41591-019-0386-6DOI Listing
March 2019

AUDIOME: a tiered exome sequencing-based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss.

Genet Med 2018 12 29;20(12):1600-1608. Epub 2018 Mar 29.

Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1038/gim.2018.48DOI Listing
December 2018

38th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2017 Annual Meeting.

Am J Med Genet A 2018 Apr 25:1463-1536. Epub 2018 Apr 25.

Division of Human Genetics, The Children's Hospital of Philadelphia and the Perelman School of Medicine at The University of Pennsylvania, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.38698DOI Listing
April 2018

NIPBL haploinsufficiency reveals a constellation of transcriptome disruptions in the pluripotent and cardiac states.

Sci Rep 2018 01 18;8(1):1056. Epub 2018 Jan 18.

Division of Human Genetics, The Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, 19104, USA.

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http://dx.doi.org/10.1038/s41598-018-19173-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5773608PMC
January 2018

ESRP1 Mutations Cause Hearing Loss due to Defects in Alternative Splicing that Disrupt Cochlear Development.

Dev Cell 2017 11 26;43(3):318-331.e5. Epub 2017 Oct 26.

Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Clinical Research Building, Room 463, 415 Curie Boulevard, Philadelphia, PA 19104, USA. Electronic address:

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http://dx.doi.org/10.1016/j.devcel.2017.09.026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5687886PMC
November 2017

EPHB4 Mutation Implicated in Capillary Malformation-Arteriovenous Malformation Syndrome: A Case Report.

Pediatr Dermatol 2017 Sep 21;34(5):e227-e230. Epub 2017 Jul 21.

Department of Pediatrics, Section of Dermatology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1111/pde.13208DOI Listing
September 2017

A taxonomy of medical uncertainties in clinical genome sequencing.

Genet Med 2017 08 19;19(8):918-925. Epub 2017 Jan 19.

Social and Behavioral Research Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1038/gim.2016.212DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5517355PMC
August 2017

A de novo SATB2 mutation in monozygotic twins with cleft palate, dental anomalies, and developmental delay.

Am J Med Genet A 2017 03;173(3):809-812

Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.38071DOI Listing
March 2017

Outcomes of evaluation and testing of 660 individuals with hearing loss in a pediatric genetics of hearing loss clinic.

Am J Med Genet A 2016 10 2;170(10):2523-30. Epub 2016 Aug 2.

Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.37855DOI Listing
October 2016

Oro-dental features of Pallister-Killian syndrome: Evaluation of 21 European probands.

Am J Med Genet A 2016 09 29;170(9):2357-64. Epub 2016 Jun 29.

Department of Biomedical and NeuroMotor Sciences (DiBiNeM), Unit of Dental Care for Special Needs Patients and Paediatric Dentistry, University of Bologna, Bologna, Italy.

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http://dx.doi.org/10.1002/ajmg.a.37815DOI Listing
September 2016

SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss.

Orphanet J Rare Dis 2016 Sep 29;11(1):130. Epub 2016 Sep 29.

Institute of Human Genetics, Friedrich-Alexander-University Erlangen-Nuremberg, 91054, Erlangen, Germany.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5041579PMC
http://dx.doi.org/10.1186/s13023-016-0509-9DOI Listing
September 2016

A de novo interstitial deletion of 7q31.2q31.31 identified in a girl with developmental delay and hearing loss.

Am J Med Genet C Semin Med Genet 2016 06 13;172(2):102-8. Epub 2016 Apr 13.

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http://dx.doi.org/10.1002/ajmg.c.31488DOI Listing
June 2016

Hearing loss, coloboma and left ventricular enlargement in a boy with an interstitial 10q26 deletion.

Am J Med Genet C Semin Med Genet 2016 06 29;172(2):109-16. Epub 2016 Apr 29.

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http://dx.doi.org/10.1002/ajmg.c.31496DOI Listing
June 2016

Dr. Laird G. Jackson Festschrift.

Am J Med Genet C Semin Med Genet 2016 Jun 5;172(2):72-5. Epub 2016 May 5.

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http://dx.doi.org/10.1002/ajmg.c.31499DOI Listing
June 2016

Mosaic ratio quantification of isochromosome 12p in Pallister-Killian syndrome using droplet digital PCR.

Mol Genet Genomic Med 2016 May 20;4(3):257-61. Epub 2016 Jan 20.

Research Center for Epigenetic Disease, Institute for Molecular and Cellular Biosciences The University of Tokyo Tokyo Japan.

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http://dx.doi.org/10.1002/mgg3.200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4867559PMC
May 2016

NIPBL Controls RNA Biogenesis to Prevent Activation of the Stress Kinase PKR.

Cell Rep 2016 Jan 24;14(1):93-102. Epub 2015 Dec 24.

Stowers Institute for Medical Research (SIMR), 1000 East 50(th) Street, Kansas City, MO 64110, USA; University of Kansas School of Medicine, Department of Biochemistry and Molecular Biology, 3901 Rainbow Boulevard, Kansas City, KS 66160, USA. Electronic address:

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http://www.cell.com/cell-reports/pdf/S2211-1247(15)01425-4.p
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http://linkinghub.elsevier.com/retrieve/pii/S221112471501425
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http://dx.doi.org/10.1016/j.celrep.2015.12.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4904785PMC
January 2016

Drosophila Nipped-B Mutants Model Cornelia de Lange Syndrome in Growth and Behavior.

PLoS Genet 2015 Nov 6;11(11):e1005655. Epub 2015 Nov 6.

Edward A Doisy Department of Biochemistry and Molecular Biology, Saint Louis University School of Medicine, Saint Louis, Missouri, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1005655DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4636142PMC
November 2015

Mutant cohesin affects RNA polymerase II regulation in Cornelia de Lange syndrome.

Sci Rep 2015 Nov 19;5:16803. Epub 2015 Nov 19.

Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, Pisa, Italy.

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http://dx.doi.org/10.1038/srep16803DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4652179PMC
November 2015

Clinical utility gene card for: Cornelia de Lange syndrome.

Eur J Hum Genet 2015 Oct 24;23(10). Epub 2014 Dec 24.

Unit of Clinical Genetics and Functional Genomics, Departments of Pharmacology-Physiology and Paediatrics Medical School, University of Zaragoza, CIBERER-GCV and IIS-Aragón, Zaragoza, Spain.

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http://dx.doi.org/10.1038/ejhg.2014.270DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4592075PMC
October 2015

Genome-wide expression analysis in fibroblast cell lines from probands with Pallister Killian syndrome.

PLoS One 2014 16;9(10):e108853. Epub 2014 Oct 16.

The Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America; The Perelman School of Medicine at The University of Pennsylvania, Philadelphia, Pennsylvania, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0108853PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4199614PMC
June 2015

Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation-negative patient with clinically diagnosed Alagille syndrome.

Am J Med Genet A 2015 Apr 3;167A(4):891-3. Epub 2015 Mar 3.

Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.36946DOI Listing
April 2015

12p microRNA expression in fibroblast cell lines from probands with Pallister-Killian syndrome.

Chromosome Res 2014 Dec 1;22(4):453-61. Epub 2014 Jul 1.

The Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA,

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http://dx.doi.org/10.1007/s10577-014-9431-yDOI Listing
December 2014

Introduction--a Pallister jubilee.

Am J Med Genet C Semin Med Genet 2014 Dec 25;166C(4):367-9. Epub 2014 Nov 25.

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http://dx.doi.org/10.1002/ajmg.c.31422DOI Listing
December 2014

Pallister-Killian syndrome.

Am J Med Genet C Semin Med Genet 2014 Dec 25;166C(4):406-13. Epub 2014 Nov 25.

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http://dx.doi.org/10.1002/ajmg.c.31423DOI Listing
December 2014

Cohesin embraces new phenotypes.

Authors:
Ian D Krantz

Nat Genet 2014 Nov;46(11):1157-8

Division of Human Molecular Genetics, The Children's Hospital of Philadelphia and The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1038/ng.3123DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4268132PMC
November 2014

NKX2.5 mutation identification on exome sequencing in a patient with heterotaxy.

Eur J Med Genet 2014 Oct 10;57(10):558-61. Epub 2014 Aug 10.

Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA; The Perelman School of Medicine at The University of Pennsylvania, Philadelphia, PA, USA.

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http://dx.doi.org/10.1016/j.ejmg.2014.08.003DOI Listing
October 2014

Novel MBTPS2 missense mutation in the N-terminus transmembrane domain in a patient with ichthyosis follicularis, alopecia, and photophobia syndrome.

Pediatr Dermatol 2013 Nov-Dec;30(6):e263-4. Epub 2013 Apr 3.

Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1111/pde.12115DOI Listing
August 2014

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

Hum Mol Genet 2014 Jun 8;23(11):2888-900. Epub 2014 Jan 8.

Sektion für Funktionelle Genetik am Institut für Humangenetik, Universität zu Lübeck, Lübeck 23538, Germany.

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http://dx.doi.org/10.1093/hmg/ddu002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4014191PMC
June 2014

Cardiac manifestations of Pallister-Killian syndrome.

Am J Med Genet A 2014 May 6;164A(5):1130-5. Epub 2014 Feb 6.

Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Temple University School of Medicine, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.36413DOI Listing
May 2014

Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome.

Hum Mutat 2013 Dec 16;34(12):1589-96. Epub 2013 Sep 16.

Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, Pisa, Italy.

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http://dx.doi.org/10.1002/humu.22430DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3880228PMC
December 2013

Novel COCH mutation in a family with autosomal dominant late onset sensorineural hearing impairment and tinnitus.

Am J Otolaryngol 2013 May-Jun;34(3):230-5. Epub 2013 Jan 29.

Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

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http://dx.doi.org/10.1016/j.amjoto.2012.11.002DOI Listing
October 2013

Immunologic features of Cornelia de Lange syndrome.

Pediatrics 2013 Aug 1;132(2):e484-9. Epub 2013 Jul 1.

Division of Allergy and Immunology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1542/peds.2012-3815DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4074671PMC
August 2013

Semaphorin 3d signaling defects are associated with anomalous pulmonary venous connections.

Nat Med 2013 Jun 12;19(6):760-5. Epub 2013 May 12.

Department of Pediatrics, Division of Cardiology, Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1038/nm.3185DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3746328PMC
June 2013

Proteomic profile identifies dysregulated pathways in Cornelia de Lange syndrome cells with distinct mutations in SMC1A and SMC3 genes.

J Proteome Res 2012 Dec 5;11(12):6111-23. Epub 2012 Nov 5.

Functional Proteomics Laboratory, Department of Biotechnologies, University of Siena, Siena, Italy.

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http://dx.doi.org/10.1021/pr300760pDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3519430PMC
December 2012

Duplication 12p and Pallister-Killian syndrome: a case report and review of the literature toward defining a Pallister-Killian syndrome minimal critical region.

Am J Med Genet A 2012 Dec 20;158A(12):3033-45. Epub 2012 Nov 20.

Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1002/ajmg.a.35500DOI Listing
December 2012

Seizure characteristics in Pallister-Killian syndrome.

Am J Med Genet A 2012 Dec 20;158A(12):3026-32. Epub 2012 Nov 20.

Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah, USA.

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http://doi.wiley.com/10.1002/ajmg.a.35567
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http://dx.doi.org/10.1002/ajmg.a.35567DOI Listing
December 2012

Developmental and behavioral characteristics of individuals with Pallister-Killian syndrome.

Am J Med Genet A 2012 Dec 20;158A(12):3018-25. Epub 2012 Nov 20.

Alexander Center, Eden Prairie, Minnesota, ,USA.

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http://doi.wiley.com/10.1002/ajmg.a.35670
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http://dx.doi.org/10.1002/ajmg.a.35670DOI Listing
December 2012

Novel clinical manifestations in Pallister-Killian syndrome: comprehensive evaluation of 59 affected individuals and review of previously reported cases.

Am J Med Genet A 2012 Dec 20;158A(12):3002-17. Epub 2012 Nov 20.

Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.

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http://doi.wiley.com/10.1002/ajmg.a.35722
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.35722DOI Listing
December 2012

Congenital heart disease in Cornelia de Lange syndrome: phenotype and genotype analysis.

Am J Med Genet A 2012 Oct 10;158A(10):2499-505. Epub 2012 Sep 10.

Department of Pediatrics, Section of Pediatric Cardiology, The Children's Hospital of Colorado, Denver, USA.

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http://dx.doi.org/10.1002/ajmg.a.35582DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3551981PMC
October 2012

Investigation of autistic features among individuals with mild to moderate Cornelia de Lange syndrome.

Am J Med Genet A 2012 Aug 27;158A(8):1841-7. Epub 2012 Jun 27.

Division of Child Development, Rehabilitation, and Metabolic Disease, The Children's Hospital of Philadelphia, and University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1002/ajmg.a.34014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3557850PMC
August 2012

Identification of a prenatal profile of Cornelia de Lange syndrome (CdLS): a review of 53 CdLS pregnancies.

Am J Med Genet A 2012 Aug 27;158A(8):1848-56. Epub 2012 Jun 27.

Division of Genetics, The Children's Hospital of Philadelphia, and Department of Pediatrics, Perelman School of Medicine at The University of Pennsylvania, Philadelphia, Pennsylvania 19104-4318, USA.

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http://doi.wiley.com/10.1002/ajmg.a.35410
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.35410DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3402646PMC
August 2012