Laura K Conlin

Laura K Conlin

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Laura K Conlin

Laura K Conlin

Publications by authors named "Laura K Conlin"

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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.

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

DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia.

Am J Med Genet A 2018 01 12;176(1):241-245. Epub 2017 Nov 12.

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

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http://dx.doi.org/10.1002/ajmg.a.38517DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5726891PMC
January 2018

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.

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

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

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

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.

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

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;

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

Mosaicism and clinical genetics.

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

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

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

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.

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

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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.

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

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

Diagnostic implications of excessive homozygosity detected by SNP-based microarrays: consanguinity, uniparental disomy, and recessive single-gene mutations.

Clin Lab Med 2011 Dec 20;31(4):595-613, ix. Epub 2011 Oct 20.

Fullerton Genetics Center, Mission Health System, 267 McDowell Street, Asheville, NC 28803, USA.

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http://dx.doi.org/10.1016/j.cll.2011.08.003DOI 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.

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

Clonal diversity analysis using SNP microarray: a new prognostic tool for chronic lymphocytic leukemia.

Cancer Genet 2011 Dec;204(12):654-65

Department of Pathology and Laboratory Medicine, Medical University of South Carolina, Charleston, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S221077621100305
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http://dx.doi.org/10.1016/j.cancergen.2011.10.012DOI Listing
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.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3197730PMC
October 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.

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http://jmg.bmj.com/cgi/doi/10.1136/jmg.2010.080382
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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.

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

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.

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

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.

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

Water structure in vitro and within Saccharomyces cerevisiae yeast cells under conditions of heat shock.

Biochim Biophys Acta 2008 Jan 26;1780(1):41-50. Epub 2007 Sep 26.

Johnson Research Foundation, Department of Biochemistry and Biophysics, School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1016/j.bbagen.2007.09.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2231520PMC
January 2008

The natural osmolyte trehalose is a positive regulator of the heat-induced activity of yeast heat shock transcription factor.

Mol Cell Biol 2007 Feb 4;27(4):1505-15. Epub 2006 Dec 4.

University of Pennsylvania School of Medicine, Department of Biochemistry and Biophysics, 813A Stellar-Chance, 422 Curie Blvd., Philadelphia, PA 19104-6059, USA.

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http://dx.doi.org/10.1128/MCB.01158-06DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1800720PMC
February 2007

Natural variation in human gene expression assessed in lymphoblastoid cells.

Nat Genet 2003 Mar 3;33(3):422-5. Epub 2003 Feb 3.

Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1038/ng1094DOI Listing
March 2003