Nancy B Spinner

Nancy B Spinner

UNVERIFIED PROFILE

Are you Nancy B Spinner?   Register this Author

Register author
Nancy B Spinner

Nancy B Spinner

Publications by authors named "Nancy B Spinner"

Are you Nancy B Spinner?   Register this Author

99Publications

2852Reads

14Profile Views

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

Hum Mutat 2019 Dec 26;40(12):2197-2220. Epub 2019 Aug 26.

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.

View Article

Download full-text PDF

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

Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy.

JAMA Netw Open 2019 Apr 5;2(4):e192129. Epub 2019 Apr 5.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/jamanetworkopen.2019.2129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6481455PMC
April 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.

View Article

Download full-text PDF

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

A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1.

PLoS Genet 2018 08 13;14(8):e1007532. Epub 2018 Aug 13.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1371/journal.pgen.1007532DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6107291PMC
August 2018

Prenatal DNA Sequencing: Clinical, Counseling, and Diagnostic Laboratory Considerations.

Prenat Diagn 2018 01 17;38(1):26-32. Epub 2017 Apr 17.

Mother Infant Research Institute, Tufts Medical Center, Boston, MA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.5038DOI Listing
January 2018

Alagille syndrome: Genetics and Functional Models.

Curr Pathobiol Rep 2017 Sep;5(3):233-241

Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s40139-017-0144-8
Publisher Site
http://dx.doi.org/10.1007/s40139-017-0144-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5736143PMC
September 2017

CMIP haploinsufficiency in two patients with autism spectrum disorder and co-occurring gastrointestinal issues.

Am J Med Genet A 2017 Aug 15;173(8):2101-2107. Epub 2017 May 15.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38277DOI Listing
August 2017

"Set in Stone" or "Ray of Hope": Parents' Beliefs About Cause and Prognosis After Genomic Testing of Children Diagnosed with ASD.

J Autism Dev Disord 2017 May;47(5):1453-1463

Division of Genomic Diagnostics and the Division of Human Genetics, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10803-017-3067-7DOI Listing
May 2017

A Challenging Case of Focal Extrahepatic Duct Obstruction/Hypoplasia in Alagille Syndrome.

J Pediatr Gastroenterol Nutr 2017 01;64(1):e18-e22

*Division of Gastroenterology, Hepatology and Nutrition, Children's Hospital of Philadelphia †College of Arts and Sciences, University of Pennsylvania ‡Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia §Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MPG.0000000000000563DOI Listing
January 2017

Sequencing-based diagnostics for pediatric genetic diseases: progress and potential.

Expert Rev Mol Diagn 2016 09 17;16(9):987-99. Epub 2016 Aug 17.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/14737159.2016.1209411DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5040519PMC
September 2016

Is a Candidate Modifier of Liver Disease Severity in Alagille Syndrome.

Cell Mol Gastroenterol Hepatol 2016 Sep 26;2(5):663-675.e2. Epub 2016 May 26.

Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, Pennsylvania.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S2352345X163005
Publisher Site
http://dx.doi.org/10.1016/j.jcmgh.2016.05.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5042888PMC
September 2016

Cytogenetic highlights and transitions.

Authors:
Nancy B Spinner

Am J Med Genet C Semin Med Genet 2016 06 20;172(2):87-91. Epub 2016 Apr 20.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.c.31489
Publisher Site
http://dx.doi.org/10.1002/ajmg.c.31489DOI Listing
June 2016

Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies.

Am J Med Genet A 2016 Mar 24;170(3):750-3. Epub 2015 Dec 24.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37512DOI Listing
March 2016

Discordant clinical phenotype in monozygotic twins with Alagille syndrome: Possible influence of non-genetic factors.

Am J Med Genet A 2016 Feb 13;170A(2):471-475. Epub 2015 Oct 13.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37429DOI Listing
February 2016

Jagged1 (JAG1): Structure, expression, and disease associations.

Gene 2016 Jan 6;576(1 Pt 3):381-4. Epub 2015 Nov 6.

Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.gene.2015.10.065DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4673022PMC
January 2016

Detection of mutually exclusive mosaicism in a girl with genotype-phenotype discrepancies.

Am J Med Genet A 2015 Dec 21;167A(12):3091-5. Epub 2015 Jul 21.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37261DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4715567PMC
December 2015

Parents' perceptions of the usefulness of chromosomal microarray analysis for children with autism spectrum disorders.

J Autism Dev Disord 2015 Oct;45(10):3262-75

Division of Genomic Diagnostics and Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10803-015-2489-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4573251PMC
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

Actionable exomic incidental findings in 6503 participants: challenges of variant classification.

Genome Res 2015 Mar 30;25(3):305-15. Epub 2015 Jan 30.

Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington 98195, USA; Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA;

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1101/gr.183483.114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4352885PMC
March 2015

Moyamoya syndrome associated with Alagille syndrome: outcome after surgical revascularization.

J Pediatr 2015 Feb 30;166(2):470-3. Epub 2014 Oct 30.

Division of Gastroenterology, Hepatology, and Nutrition, The Hospital for Sick Children, Toronto, Ontario, Canada; University of Toronto, Toronto, Ontario, Canada. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00223476140103
Publisher Site
http://dx.doi.org/10.1016/j.jpeds.2014.10.067DOI Listing
February 2015

Mosaicism and clinical genetics.

Am J Med Genet C Semin Med Genet 2014 Dec 25;166C(4):397-405. Epub 2014 Nov 25.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.c.31421DOI Listing
December 2014

A qualitative study of healthcare providers' perspectives on the implications of genome-wide testing in pediatric clinical practice.

J Genet Couns 2014 Aug 14;23(4):474-88. Epub 2013 Sep 14.

Center for the Integration of Genetic Health Care Technologies, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10897-013-9653-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3955216PMC
August 2014

Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome.

J Appl Genet 2014 Aug 20;55(3):329-36. Epub 2014 Apr 20.

Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730, Warsaw, Poland,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s13353-014-0212-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4102774PMC
August 2014

CCBE1 mutation in two siblings, one manifesting lymphedema-cholestasis syndrome, and the other, fetal hydrops.

PLoS One 2013 26;8(9):e75770. Epub 2013 Sep 26.

Liver Center Laboratory, Department of Medicine, University of California San Francisco, San Francisco, California, United States of America.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0075770PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3784396PMC
July 2014

Clinical utility gene card for: Alagille Syndrome (ALGS).

Eur J Hum Genet 2014 Mar 24;22(3). Epub 2013 Jul 24.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2013.140DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3925268PMC
March 2014

Replication of a GWAS signal in a Caucasian population implicates ADD3 in susceptibility to biliary atresia.

Hum Genet 2014 Feb 9;133(2):235-43. Epub 2013 Oct 9.

Genomics and Computational Biology Graduate Group, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00439-013-1368-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3901047PMC
February 2014

Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium.

Genet Med 2013 Nov 24;15(11):860-7. Epub 2013 Oct 24.

1] Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA [2] Carolina Center for Genome Sciences, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA [3] Center for Genomics and Society, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA [4] Lineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2013.133DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3935342PMC
November 2013

Pediatric mortality in males versus females in the United States, 1999-2008.

Pediatrics 2013 Oct 2;132(4):631-8. Epub 2013 Sep 2.

CHOP North-Room 1523, The Children's Hospital of Philadelphia, 34th and Civic Center Blvd, Philadelphia, PA 10194.

View Article

Download full-text PDF

Source
http://pediatrics.aappublications.org/content/pediatrics/ear
Web Search
http://dx.doi.org/10.1542/peds.2013-0339DOI Listing
October 2013

Persistent mosaicism for 12p duplication/triplication chromosome structural abnormality in peripheral blood.

Case Rep Genet 2013 15;2013:857926. Epub 2013 Sep 15.

Department of Pathology, West Virginia University, Morgantown, WV 26506-9203, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1155/2013/857926DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3787625PMC
October 2013

Renal involvement and the role of Notch signalling in Alagille syndrome.

Nat Rev Nephrol 2013 Jul 11;9(7):409-18. Epub 2013 Jun 11.

The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/nrneph.2013.102DOI Listing
July 2013

Evidence from human and zebrafish that GPC1 is a biliary atresia susceptibility gene.

Gastroenterology 2013 May 18;144(5):1107-1115.e3. Epub 2013 Jan 18.

Division of Gastroenterology, Hepatology, and Nutrition, The Children's Hospital of Philadelphia Research Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1053/j.gastro.2013.01.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3736559PMC
May 2013

A genomic view of mosaicism and human disease.

Nat Rev Genet 2013 May;14(5):307-20

National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/nrg3424DOI Listing
May 2013

Mosaic maternal uniparental disomy of chromosome 15 in Prader-Willi syndrome: utility of genome-wide SNP array.

Am J Med Genet A 2013 Jan 7;161A(1):166-71. Epub 2012 Dec 7.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35625DOI Listing
January 2013

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.

View Article

Download full-text PDF

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

Notch signaling in human development and disease.

Semin Cell Dev Biol 2012 Jun 28;23(4):450-7. Epub 2012 Jan 28.

Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia and The Perelman School of Medicine at The University of Pennsylvania, Philadelphia, PA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.semcdb.2012.01.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3638987PMC
June 2012

Ring chromosome 20.

Eur J Med Genet 2012 May 22;55(5):381-7. Epub 2012 Feb 22.

Department of Pathology and Laboratory Medicine, University of Pennsylvania, 1007A Abramson Research Center, 3615 Civic Center Boulevard, The Children's Hospital of Philadelphia, PA 19104, USA.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S17697212120007
Publisher Site
http://dx.doi.org/10.1016/j.ejmg.2012.02.004DOI Listing
May 2012

Alagille syndrome in a Vietnamese cohort: mutation analysis and assessment of facial features.

Am J Med Genet A 2012 May 9;158A(5):1005-13. Epub 2012 Apr 9.

Division of Gastroenterology, Hepatology, and Nutrition, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35255DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3331947PMC
May 2012

"What does it mean?": uncertainties in understanding results of chromosomal microarray testing.

Genet Med 2012 Feb 5;14(2):250-8. Epub 2012 Jan 5.

Center for the Integration of Genetic Healthcare Technologies, Division of Translational Medicine and Human Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2011.52DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3445036PMC
February 2012

Renal anomalies in Alagille syndrome: a disease-defining feature.

Am J Med Genet A 2012 Jan 21;158A(1):85-9. Epub 2011 Nov 21.

Division of Gastroenterology, Hepatology and Nutrition at The Hospital for Sick Children, Toronto, Ontario, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.34369DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4511708PMC
January 2012

8p21 microdeletion in a patient with intellectual disability and behavioral abnormalities.

Am J Med Genet A 2011 Dec 7;155A(12):3148-52. Epub 2011 Nov 7.

Center for Human Genetics, University Hospitals Case Medical Center, Cleveland, Ohio, USA.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.34317
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.34317DOI Listing
December 2011

Mechanisms of ring chromosome formation, ring instability and clinical consequences.

BMC Med Genet 2011 Dec 21;12:171. Epub 2011 Dec 21.

Genetics Division, Department of Morphology and Genetics, Federal University of São Paulo, Botucatu Street 740, Zip Code 04023-900, São Paulo, Brazil.

View Article

Download full-text PDF

Source
http://bmcmedgenet.biomedcentral.com/articles/10.1186/1471-2
Publisher Site
http://dx.doi.org/10.1186/1471-2350-12-171DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3309960PMC
December 2011

Mosaic trisomy 17: variable clinical and cytogenetic presentation.

Am J Med Genet A 2011 Oct;155A(10):2489-95

Department of Pathology and Laboratory Medicine, The Children’s Hospital of Philadelphia, PA, USA.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3197730PMC
http://dx.doi.org/10.1002/ajmg.a.34172DOI Listing
October 2011

Significant liver disease in a patient with Y116H mutation in the MVK gene.

Am J Med Genet A 2011 Jun 5;155A(6):1461-4. Epub 2011 May 5.

Division of Gastroenterology, Hepatology and Nutrition, University of Pennsylvania School of Medicine, The Children's Hospital of Philadelphia, Pennsylvania 19104, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.33915DOI Listing
June 2011

Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patients.

J Med Genet 2011 Jan 23;48(1):1-9. Epub 2010 Oct 23.

Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, The University of Pennsylvania School of Medicine, 19104, USA.

View Article

Download full-text PDF

Source
http://jmg.bmj.com/cgi/doi/10.1136/jmg.2010.080382
Publisher Site
http://dx.doi.org/10.1136/jmg.2010.080382DOI Listing
January 2011

Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease.

Am J Med Genet A 2010 Oct;152A(10):2618-22

Division of Pediatric Nephrology, The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.33628DOI Listing
October 2010

Genome-wide DNA methylation analysis in cohesin mutant human cell lines.

Nucleic Acids Res 2010 Sep 6;38(17):5657-71. Epub 2010 May 6.

Division of Human Genetics, Abramson Research Institute, Center for Biomedical Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/nar/gkq346DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2943628PMC
September 2010

Effect of Kasai procedure on hepatic outcome in Alagille syndrome.

J Pediatr Gastroenterol Nutr 2010 Sep;51(3):319-21

Hospital of the University of Pennsylvania, Philadelphia, PA, USA.

View Article

Download full-text PDF

Source
https://insights.ovid.com/crossref?an=00005176-900000000-995
Publisher Site
http://dx.doi.org/10.1097/MPG.0b013e3181df5fd8DOI Listing
September 2010

Pathologic lower extremity fractures in children with Alagille syndrome.

J Pediatr Gastroenterol Nutr 2010 Jul;51(1):66-70

Department of Pediatrics, The Department of Biostatistics and Epidemiology at the University of Pennsylvania School of Medicine, Philadelphia, PA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MPG.0b013e3181cb9629DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2893241PMC
July 2010

Further evidence for the possible role of MEIS2 in the development of cleft palate and cardiac septum.

Am J Med Genet A 2010 May;152A(5):1326-7

Division of Neonatology, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.33375
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.33375DOI Listing
May 2010

Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis.

Hum Mol Genet 2010 Apr 6;19(7):1263-75. Epub 2010 Jan 6.

Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddq003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3146011PMC
April 2010

An 18-year follow-up report on an infant with a duplication of 9q34.

Am J Med Genet A 2010 Jan;152A(1):230-3

Departments of Psychiatry & Behavioral Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, Kansas, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.33196DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6800088PMC
January 2010

Transcriptional dysregulation in NIPBL and cohesin mutant human cells.

PLoS Biol 2009 May 26;7(5):e1000119. Epub 2009 May 26.

Division of Human Genetics, Abramson Research Institute, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1371/journal.pbio.1000119DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2680332PMC
May 2009

SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation.

Hum Mutat 2009 Mar;30(3):371-8

Division of Gastroenterology and Nutrition, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.20863DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2650004PMC
March 2009

Intracytoplasmic sperm injection (ICSI) with transmission of a ring(Y) chromosome and ovotesticular disorder of sex development in offspring.

Am J Med Genet A 2008 Jul;146A(14):1828-31

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.32358DOI Listing
July 2008

Fine-mapping subtelomeric deletions and duplications by comparative genomic hybridization in 42 individuals.

Am J Med Genet A 2008 Mar;146A(6):730-9

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.32216DOI Listing
March 2008

Interlobular bile duct loss in pediatric cholestatic disease is associated with aberrant cytokeratin 7 expression by hepatocytes.

Pediatr Dev Pathol 2007 Sep-Oct;10(5):383-90

Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, PA, USA.

View Article

Download full-text PDF

Source
http://journals.sagepub.com/doi/10.2350/06-09-0171.1
Publisher Site
http://dx.doi.org/10.2350/06-09-0171.1DOI Listing
December 2007

Novel microdeletion syndromes.

Am J Med Genet C Semin Med Genet 2007 Nov;145C(4):323-6

Division of Human Genetics, 1007-C, Abramson Research Center, The Children's Hospital of Philadelphia, 3615 Civic Center Boulevard, Philadelphia, PA 19104, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.c.30150DOI Listing
November 2007

The cardiovascular manifestations of Alagille syndrome and JAGI mutations.

Methods Mol Med 2006 ;126:217-31

The Division of Cardiology, Abramson Research Center, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1385/1-59745-088-X:217DOI Listing
December 2006

NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway.

Am J Hum Genet 2006 Jul 10;79(1):169-73. Epub 2006 May 10.

Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, PA 19104, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1086/505332DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1474136PMC
July 2006

Familial stenosis of the pulmonary artery branches with a JAG1 mutation.

Rev Port Cardiol 2006 Apr;25(4):447-52

Serviço de Genética, Hospital de Santa Maria, Lisboa, Portugal.

View Article

Download full-text PDF

Source
April 2006

DiGeorge anomaly in a patient with isochromosome 18p born to a diabetic mother.

Am J Med Genet A 2005 Oct;138A(2):155-9

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

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.30913
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.30913DOI Listing
October 2005

Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome.

Am J Med Genet A 2005 Sep;138(1):27-31

Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia and The University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.30919DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2766539PMC
September 2005

A patient with mosaic partial trisomy 18 resulting from dicentric chromosome breakage.

Am J Med Genet A 2005 Aug;137(2):208-12

Division of Human Genetics and Molecular Biology, 1007A Abramson Research Center, Children's Hospital of Philadelphia, 34th Street & Civic Center Boulevard, Philadelphia, PA 19104, USA.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.30845
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.30845DOI Listing
August 2005