Matthew A Deardorff

Matthew A Deardorff

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Matthew A Deardorff

Publications by authors named "Matthew A Deardorff"

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Characterization of the Beckwith-Wiedemann spectrum: Diagnosis and management.

Am J Med Genet C Semin Med Genet 2019 Aug 30. Epub 2019 Aug 30.

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

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http://dx.doi.org/10.1002/ajmg.c.31740DOI Listing
August 2019

Diagnosis and management of the phenotypic spectrum of twins with Beckwith-Wiedemann syndrome.

Am J Med Genet A 2019 Jul 8;179(7):1139-1147. Epub 2019 May 8.

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

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http://dx.doi.org/10.1002/ajmg.a.61164DOI Listing
July 2019

HACE1 deficiency leads to structural and functional neurodevelopmental defects.

Neurol Genet 2019 Jun 29;5(3):e330. Epub 2019 Apr 29.

IMBA (V.N., T.-P.P., P.M., A.K., I.K., R.N., J.M.P.), Institute of Molecular Biotechnology of the Austrian Academy of Sciences, VBC-Vienna BioCenter Campus, Austria; Department of Medical Genetics (J.M.P.), Life Science Institute, University of British Columbia, Vancouver, Canada; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (V.N., E.L.), Vienna, Austria; Section for Functional Genetics at the Institute of Human Genetics (R.H., F.J.K.), University of Lübeck; German Center for Cardiovascular Research (DZHK e.V.) (F.J.K.), Partner Site Hamburg/Kiel/Lübeck, Lübeck; Institute of Cellular Neurosciences (M.K.H., C.H.), University of Bonn Medical School, Germany; Centre for Neuroendocrinology (M.K.H.), Department of Physiology, School of Biomedical Sciences, University of Otago, Dunedin, New Zealand; Department of Neurophysiology and Neuropharmacology (A.C., F.J.M.Q.), Center for Physiology and Pharmacology, Medical University of Vienna, Austria; Drug Safety and Metabolism (R.N.), IMED Biotech Unit, AstraZeneca, Gothenburg, Sweden; Division of Genetics and the Roberts Individualized Medical Genetics Center (M.A.D., E.C.B.), Children's Hospital of Philadelphia, PA; Departments of Pediatrics (M.A.D.), University of Pennsylvania Perelman School of Medicine, Philadelphia, PA; Institute of Human Genetics (Y.L., G.Y., B.W.), University Medical Center Göttingen, Germany; Institute of Neurology (C.H.), University College London, UK; German Center for Neurodegenerative Diseases (DZNE) (C.H.), Bonn, Germany; Zentrum für Kinder- und Jugendmedizin (G.C.K.), Neuropädiatrie, Klinikum Oldenburg, Germany; Department of Medical Genetics (E.F.P.), Faculty of Medicine, Gazi University, Ankara, Turkey; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences (P.B., J.M.), Vienna, Austria.

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http://dx.doi.org/10.1212/NXG.0000000000000330DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6561753PMC
June 2019

Hematopoietic Stem Cell Transplant for the Treatment of X-MAID.

Front Pediatr 2019 14;7:170. Epub 2019 May 14.

Division of Allergy and Immunology, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.

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http://dx.doi.org/10.3389/fped.2019.00170DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6527778PMC
May 2019

Beckwith-Wiedemann syndrome in diverse populations.

Am J Med Genet A 2019 04 4;179(4):525-533. Epub 2019 Feb 4.

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

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http://dx.doi.org/10.1002/ajmg.a.61053DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454922PMC
April 2019

Molecular diagnosis of somatic overgrowth conditions: A single-center experience.

Mol Genet Genomic Med 2019 03 13;7(3):e536. Epub 2019 Feb 13.

Genetic Diagnostic Laboratory, Department of Genetics, University of Pennsylvania, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/mgg3.536DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6418364PMC
March 2019

Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects.

Am J Hum Genet 2018 12 21;103(6):995-1008. Epub 2018 Nov 21.

Genome Research Division, Human Genetics Department, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Geert Grooteplein Zuid 10, 6525KL Nijmegen, the Netherlands; Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University Faculty of Medicine, Mathildenstrasse 1, 79112 Freiburg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.10.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288205PMC
December 2018

A human case of SLC35A3-related skeletal dysplasia.

Am J Med Genet A 2017 Oct 4;173(10):2758-2762. Epub 2017 Aug 4.

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

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http://dx.doi.org/10.1002/ajmg.a.38374DOI Listing
October 2017

Correspondence to Gripp et al. nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutation.

Am J Med Genet A 2017 08 24;173(8):2293-2295. Epub 2017 May 24.

Department of Pediatrics, Emma Children's Hospital, Academic Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.38290DOI Listing
August 2017

Response to: Toriello et al., "Update on the Toriello-Carey Syndrome." Further delineation of a young woman with deletion 1q42.12-q42.2.

Am J Med Genet A 2017 Jul 26;173(7):1988-1991. Epub 2017 Apr 26.

Medical Genetics Unit, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts.

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http://dx.doi.org/10.1002/ajmg.a.38203DOI Listing
July 2017

Phenotypic predictors and final diagnoses in patients referred for RASopathy testing by targeted next-generation sequencing.

Genet Med 2017 06 20;19(6):715-718. Epub 2016 Oct 20.

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

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http://dx.doi.org/10.1038/gim.2016.169DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6095193PMC
June 2017

The utility of alpha-fetoprotein screening in Beckwith-Wiedemann syndrome.

Am J Med Genet A 2017 Mar 4;173(3):581-584. Epub 2017 Feb 4.

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

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http://dx.doi.org/10.1002/ajmg.a.38068DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5928504PMC
March 2017

Precision therapy for a new disorder of AMPA receptor recycling due to mutations in .

Neurol Genet 2017 Feb 1;3(1):e130. Epub 2017 Feb 1.

Section of Biochemical Genetics (R.C.A.-N., N.S.), Division of Human Genetics (R.C.A.-N., M.A.D., A.B.W.), Department of Pathology and Laboratory Medicine (L.K.C., A.B.S., A.N.), Division of Child Neurology (E.D.M.), Children's Hospital of Philadelphia, PA; Department of Pediatrics (R.C.A.-N., N.S., M.A.D., E.D.M.) and Department of Neurology (E.D.M.), Perelman School of Medicine, and Department of Clinical Pathology (L.K.C., A.B.S.), University of Pennsylvania, Philadelphia; GeneDx (J.J.), Gaithersburg, MD; Neuroregeneration and Stem Cell Programs (G.K.E.U., T.M.D., V.L.D.), Institute for Cell Engineering; Departments of Neurology (G.K.E.U., T.M.D.), Solomon H. Snyder Department of Neuroscience (T.M.D., V.L.D.), Pharmacology and Molecular Sciences (T.M.D., V.L.D.), Physiology (V.L.D.), and Public Health (E.M.), Johns Hopkins University, Baltimore, MD.

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http://dx.doi.org/10.1212/NXG.0000000000000130DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5289017PMC
February 2017

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

Authors:
Claire Redin Harrison Brand Ryan L Collins Tammy Kammin Elyse Mitchell Jennelle C Hodge Carrie Hanscom Vamsee Pillalamarri Catarina M Seabra Mary-Alice Abbott Omar A Abdul-Rahman Erika Aberg Rhett Adley Sofia L Alcaraz-Estrada Fowzan S Alkuraya Yu An Mary-Anne Anderson Caroline Antolik Kwame Anyane-Yeboa Joan F Atkin Tina Bartell Jonathan A Bernstein Elizabeth Beyer Ian Blumenthal Ernie M H F Bongers Eva H Brilstra Chester W Brown Hennie T Brüggenwirth Bert Callewaert Colby Chiang Ken Corning Helen Cox Edwin Cuppen Benjamin B Currall Tom Cushing Dezso David Matthew A Deardorff Annelies Dheedene Marc D'Hooghe Bert B A de Vries Dawn L Earl Heather L Ferguson Heather Fisher David R FitzPatrick Pamela Gerrol Daniela Giachino Joseph T Glessner Troy Gliem Margo Grady Brett H Graham Cristin Griffis Karen W Gripp Andrea L Gropman Andrea Hanson-Kahn David J Harris Mark A Hayden Rosamund Hill Ron Hochstenbach Jodi D Hoffman Robert J Hopkin Monika W Hubshman A Micheil Innes Mira Irons Melita Irving Jessie C Jacobsen Sandra Janssens Tamison Jewett John P Johnson Marjolijn C Jongmans Stephen G Kahler David A Koolen Jerome Korzelius Peter M Kroisel Yves Lacassie William Lawless Emmanuelle Lemyre Kathleen Leppig Alex V Levin Haibo Li Hong Li Eric C Liao Cynthia Lim Edward J Lose Diane Lucente Michael J Macera Poornima Manavalan Giorgia Mandrile Carlo L Marcelis Lauren Margolin Tamara Mason Diane Masser-Frye Michael W McClellan Cinthya J Zepeda Mendoza Björn Menten Sjors Middelkamp Liya R Mikami Emily Moe Shehla Mohammed Tarja Mononen Megan E Mortenson Graciela Moya Aggie W Nieuwint Zehra Ordulu Sandhya Parkash Susan P Pauker Shahrin Pereira Danielle Perrin Katy Phelan Raul E Piña Aguilar Pino J Poddighe Giulia Pregno Salmo Raskin Linda Reis William Rhead Debra Rita Ivo Renkens Filip Roelens Jayla Ruliera Patrick Rump Samantha L P Schilit Ranad Shaheen Rebecca Sparkes Erica Spiegel Blair Stevens Matthew R Stone Julia Tagoe Joseph V Thakuria Bregje W van Bon Jiddeke van de Kamp Ineke van Der Burgt Ton van Essen Conny M van Ravenswaaij-Arts Markus J van Roosmalen Sarah Vergult Catharina M L Volker-Touw Dorothy P Warburton Matthew J Waterman Susan Wiley Anna Wilson Maria de la Concepcion A Yerena-de Vega Roberto T Zori Brynn Levy Han G Brunner Nicole de Leeuw Wigard P Kloosterman Erik C Thorland Cynthia C Morton James F Gusella Michael E Talkowski

Nat Genet 2017 01 14;49(1):36-45. Epub 2016 Nov 14.

Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/ng.3720DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5307971PMC
January 2017

Utility of genetic evaluation in infants with congenital heart defects admitted to the cardiac intensive care unit.

Am J Med Genet A 2016 12 8;170(12):3090-3097. Epub 2016 Sep 8.

Division of Cardiology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.37891DOI Listing
December 2016

Structural aspects of HDAC8 mechanism and dysfunction in Cornelia de Lange syndrome spectrum disorders.

Protein Sci 2016 11 16;25(11):1965-1976. Epub 2016 Sep 16.

Roy and Diana Vagelos Laboratories, Department of Chemistry, University of Pennsylvania, Philadelphia, PA, 19104-6323.

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http://dx.doi.org/10.1002/pro.3030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5079251PMC
November 2016

KCNK9 imprinting syndrome-further delineation of a possible treatable disorder.

Am J Med Genet A 2016 10 6;170(10):2632-7. Epub 2016 May 6.

Genetic Institute, Emek Medical Center, Afula, Israel.

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http://dx.doi.org/10.1002/ajmg.a.37740DOI Listing
October 2016

Tumor screening in Beckwith-Wiedemann syndrome-To screen or not to screen?

Am J Med Genet A 2016 09;170(9):2261-4

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

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http://dx.doi.org/10.1002/ajmg.a.37881DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5930355PMC
September 2016

Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen.

JIMD Rep 2017 12;34:43-47. Epub 2016 Aug 12.

Department of Pediatrics, Division of Human Genetics, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, 3501 Civic Center Blvd, Philadelphia, PA, 19104, USA.

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http://dx.doi.org/10.1007/8904_2016_2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5509549PMC
August 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

MESP1 Mutations in Patients with Congenital Heart Defects.

Hum Mutat 2016 Mar 19;37(3):308-14. Epub 2016 Jan 19.

Division of Cardiology, Children's Hospital of Philadelphia, Department of Pediatrics, University of Pennsylvania, Perelman School of Medicine, Philadelphia, Pennsylvania, 19104.

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http://dx.doi.org/10.1002/humu.22947DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4762608PMC
March 2016

ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis.

JIMD Rep 2016 27;30:33-37. Epub 2016 Feb 27.

Department of Pediatrics, Division of Human Genetics, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, 3501 Civic Center Blvd, Philadelphia, PA, 19104, USA.

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http://dx.doi.org/10.1007/8904_2016_538DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5110442PMC
February 2016

Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith-Wiedemann syndrome.

J Med Genet 2016 Jan 6;53(1):53-61. Epub 2015 Nov 6.

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

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http://dx.doi.org/10.1136/jmedgenet-2015-103394DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4740975PMC
January 2016

Erratum to: Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments.

Hum Genomics 2016 Jan 18;10. Epub 2016 Jan 18.

Center for Applied Genomics, The Children's Hospital of Philadelphia, 1014H, 3615 Civic Center Blvd, Abramson Building, Philadelphia, PA, 19104, USA.

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http://dx.doi.org/10.1186/s40246-016-0060-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4717653PMC
January 2016

Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments.

Hum Genomics 2015 Nov 11;9:31. Epub 2015 Nov 11.

Center for Applied Genomics, The Children's Hospital of Philadelphia, 1014H, 3615 Civic Center Blvd, Abramson Building, Philadelphia, PA, 19104, USA.

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http://dx.doi.org/10.1186/s40246-015-0053-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4642759PMC
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

Biochemical and structural characterization of HDAC8 mutants associated with Cornelia de Lange syndrome spectrum disorders.

Biochemistry 2015 Oct 14;54(42):6501-13. Epub 2015 Oct 14.

Roy and Diana Vagelos Laboratories, Department of Chemistry, University of Pennsylvania , Philadelphia, Pennsylvania 19104-6323, United States.

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http://dx.doi.org/10.1021/acs.biochem.5b00881DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4624487PMC
October 2015

Melorheostosis: segmental osteopoikilosis or a separate entity?

J Pediatr Orthop 2015 Mar;35(2):e13-7

*Division of Orthopaedic Surgery ‡Department of Genetics, The Children's Hospital of Philadelphia †Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.

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http://dx.doi.org/10.1097/BPO.0000000000000384DOI Listing
March 2015

Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia.

Eur J Hum Genet 2015 Feb 30;23(2):264-6. Epub 2014 Apr 30.

1] Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA [2] Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, PA, USA [3] Center for Bone Health, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

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http://dx.doi.org/10.1038/ejhg.2014.76DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4297904PMC
February 2015

Compromised structure and function of HDAC8 mutants identified in Cornelia de Lange Syndrome spectrum disorders.

ACS Chem Biol 2014 Sep 30;9(9):2157-64. Epub 2014 Jul 30.

Roy and Diana Vagelos Laboratories, Department of Chemistry, University of Pennsylvania , Philadelphia, Pennsylvania 19104-6323 United States.

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http://pubs.acs.org/doi/10.1021/cb5003762
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http://dx.doi.org/10.1021/cb5003762DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4168803PMC
September 2014

Clinical features, diagnostic criteria, and management of Coffin-Siris syndrome.

Am J Med Genet C Semin Med Genet 2014 Sep 28;166C(3):252-6. Epub 2014 Aug 28.

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http://dx.doi.org/10.1002/ajmg.c.31411DOI Listing
September 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

Improving surveillance for hyperammonemia in the newborn.

Mol Genet Metab 2013 Sep-Oct;110(1-2):102-5. Epub 2013 May 18.

Section of Biochemical Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1016/j.ymgme.2013.05.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3755016PMC
March 2014

Mutations in the ABCC6 gene as a cause of generalized arterial calcification of infancy: genotypic overlap with pseudoxanthoma elasticum.

J Invest Dermatol 2014 Mar 5;134(3):658-665. Epub 2013 Sep 5.

Division of Endocrinology and Diabetes, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA. Electronic address:

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http://dx.doi.org/10.1038/jid.2013.370DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3945730PMC
March 2014

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.

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

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

The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases.

Am J Med Genet A 2012 Aug 18;158A(8):1865-76. Epub 2012 Jun 18.

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

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http://dx.doi.org/10.1002/ajmg.a.35415DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3402612PMC
August 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
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http://dx.doi.org/10.1002/ajmg.a.35410DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3402646PMC
August 2012

Neutral mitochondrial heteroplasmy and the influence of aging.

Hum Mol Genet 2011 Apr 4;20(8):1653-9. Epub 2011 Feb 4.

Department of Pediatrics, The University of Pennsylvania, Philadelphia, PA, USA.

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http://dx.doi.org/10.1093/hmg/ddr043DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3063991PMC
April 2011

Another tool in the genome-wide association study arsenal: population-based detection of somatic gene conversion.

BMC Med 2011 Feb 3;9:13. Epub 2011 Feb 3.

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

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http://dx.doi.org/10.1186/1741-7015-9-13DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3040696PMC
February 2011

The incidence of thrombocytopenia in children with Cornelia de Lange syndrome.

Am J Med Genet A 2011 Jan 10;155A(1):33-7. Epub 2010 Dec 10.

Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, USA.

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http://dx.doi.org/10.1002/ajmg.a.33631DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3058755PMC
January 2011

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.

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

Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey.

Am J Med Genet A 2010 Jul;152A(7):1641-53

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

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http://dx.doi.org/10.1002/ajmg.a.33441DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4133091PMC
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.

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http://doi.wiley.com/10.1002/ajmg.a.33375
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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.

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

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