Cynthia C Morton

Cynthia C Morton

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Cynthia C Morton

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A proposal for comprehensive newborn hearing screening to improve identification of deaf and hard-of-hearing children.

Genet Med 2019 Nov 7;21(11):2614-2630. Epub 2019 Jun 7.

Department of Otolaryngology-Head & Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, IA, USA.

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http://dx.doi.org/10.1038/s41436-019-0563-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6831511PMC
November 2019

Gene therapy for hearing loss.

Hum Mol Genet 2019 10;28(R1):R65-R79

Molecular Otolaryngology and Renal Research Laboratories, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.

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http://dx.doi.org/10.1093/hmg/ddz129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6796998PMC
October 2019

GWAS Identifies 44 Independent Associated Genomic Loci for Self-Reported Adult Hearing Difficulty in UK Biobank.

Am J Hum Genet 2019 Oct 26;105(4):788-802. Epub 2019 Sep 26.

Department of Twin Research and Genetic Epidemiology, School of Life Course Sciences, King's College London, London SE1 7EH, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.09.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6817556PMC
October 2019

Genome Sequencing Explores Complexity of Chromosomal Abnormalities in Recurrent Miscarriage.

Am J Hum Genet 2019 Oct 29. Epub 2019 Oct 29.

Centre for Reproductive Medicine, Shandong University, Jinan 250021, China; The Key laboratory of Reproductive Endocrinology (Shandong University), Ministry of Education, Jinan 250021, China; National Research Center for Assisted Reproductive Technology and Reproductive Genetics, Jinan 250021, China; Center for Reproductive Medicine, Ren Ji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200135, China; Shanghai Key Laboratory for Assisted Reproduction and Reproductive Genetics, Shanghai 200135, China; Hong Kong Branches of Chinese National Engineering Research Centers - Center for Assisted Reproductive Technology and Reproductive Genetics, Hong Kong, China. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.10.003DOI Listing
October 2019

Correction: A proposal for comprehensive newborn hearing screening to improve identification of deaf and hard-of-hearing children.

Genet Med 2019 Jun 18. Epub 2019 Jun 18.

Department of Otolaryngology-Head & Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, IA, USA.

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http://dx.doi.org/10.1038/s41436-019-0587-xDOI Listing
June 2019

The Iceberg under Water: Unexplored Complexity of Chromoanagenesis in Congenital Disorders.

Am J Hum Genet 2019 Apr;104(4):565-577

Departments of Obstetrics and Gynecology and of Pathology, Brigham and Women's Hospital, Boston, MA 02115, USA; Harvard Medical School, Boston, MA 02115, USA; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA; Manchester Center for Audiology and Deafness, School of Health Sciences, Manchester Academic Health Science Centre, University of Manchester, Manchester M13 9NT, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.02.024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6451730PMC
April 2019

Historical and Clinical Perspectives on Chromosomal Translocations.

Adv Exp Med Biol 2018;1044:1-14

The Developmental Genome Anatomy Project, Brigham and Women's Hospital, Boston, MA, USA.

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http://dx.doi.org/10.1007/978-981-13-0593-1_1DOI Listing
November 2018

Clinical, pathologic, cytogenetic, and molecular profiling in self-identified black women with uterine leiomyomata.

Cancer Genet 2018 04 19;222-223:1-8. Epub 2018 Feb 19.

Department of Obstetrics, Gynecology and Reproductive Biology, Brigham and Women's Hospital, Boston, MA 02115, USA; Harvard Medical School, Boston, MA 02115, USA; Department of Pathology, Brigham and Women's Hospital, Boston, MA 02115, USA; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA; University of Manchester, Manchester Academic Health Science Centre, Manchester, UK. Electronic address:

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http://dx.doi.org/10.1016/j.cancergen.2018.01.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5909837PMC
April 2018

Pelvic and pulmonary benign metastasizing leiomyoma: A case report.

Case Rep Womens Health 2018 Apr 31;18:e00061. Epub 2018 Mar 31.

Center for Infertility and Reproductive Surgery, Department of Obstetrics, Gynecology, and Reproductive Biology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.1016/j.crwh.2018.e00061DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5960028PMC
April 2018

Computational Prediction of Position Effects of Human Chromosome Rearrangements.

Curr Protoc Hum Genet 2018 04 26;97(1). Epub 2018 Apr 26.

Department of Obstetrics, Gynecology, and Reproductive Biology, Brigham and Women's Hospital, Boston, MA 02115, USA.

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http://dx.doi.org/10.1002/cphg.57DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6054318PMC
April 2018

3C-PCR: a novel proximity ligation-based approach to phase chromosomal rearrangement breakpoints with distal allelic variants.

Hum Genet 2018 Jan 1;137(1):55-62. Epub 2017 Dec 1.

Program in Medical and Population Genetics, Broad Institute, Cambridge, MA, USA.

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http://dx.doi.org/10.1007/s00439-017-1853-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5790632PMC
January 2018

Balanced Chromosomal Rearrangement Detection by Low-Pass Whole-Genome Sequencing.

Curr Protoc Hum Genet 2018 01 24;96:8.18.1-8.18.16. Epub 2018 Jan 24.

Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China.

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http://doi.wiley.com/10.1002/cphg.51
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http://dx.doi.org/10.1002/cphg.51DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5924704PMC
January 2018

Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements.

Am J Hum Genet 2017 Aug 20;101(2):206-217. Epub 2017 Jul 20.

Department of Obstetrics, Gynecology, and Reproductive Biology, Brigham and Women's Hospital, Boston, MA 02115, USA; Johannes Gutenberg University, Mainz 55122, Germany; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA; Department of Pathology, Brigham and Women's Hospital, Boston, MA 02115, USA; Division of Evolution and Genomic Science, School of Biological Sciences, Manchester Academic Health Science Centre, Manchester M13 9NT, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297173024
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http://dx.doi.org/10.1016/j.ajhg.2017.06.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5544382PMC
August 2017

Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Nat Genet 2017 05;49(6):969

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http://dx.doi.org/10.1038/ng0617-969cDOI Listing
May 2017

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Nat Genet 2017 Feb 9;49(2):238-248. Epub 2017 Jan 9.

Molecular Neurogenetics Unit and Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/ng.3743DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5473428PMC
February 2017

Histopathology of the Human Inner Ear in the p.L114P COCH Mutation (DFNA9).

Audiol Neurootol 2016 30;21(2):88-97. Epub 2016 Mar 30.

Human Otopathology Laboratory, Department of Otolaryngology, Massachusetts Eye and Ear Infirmary, Boston, Mass., USA.

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https://www.karger.com/Article/FullText/443822
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http://dx.doi.org/10.1159/000443822DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4833584PMC
January 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

Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis.

Am J Hum Genet 2016 Nov 13;99(5):1015-1033. Epub 2016 Oct 13.

Department of Obstetrics, Gynecology, and Reproductive Biology, Brigham and Women's Hospital, Boston, MA 02115, USA; Harvard Medical School, Boston, MA 02115, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Boston, MA 02142, USA; Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA; Division of Evolution and Genomic Science, School of Biological Sciences, University of Manchester, Manchester Academic Health Science Center, Manchester 03101, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.08.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5097935PMC
November 2016

Genetic Association Studies in Uterine Fibroids: Risk Alleles Presage the Path to Personalized Therapies.

Semin Reprod Med 2016 07 11;34(4):235-41. Epub 2016 Aug 11.

Department of Obstetrics, Gynecology and Reproductive Biology, Harvard Medical School, Boston, Massachusetts.

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0036-1585401
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http://dx.doi.org/10.1055/s-0036-1585401DOI Listing
July 2016

Section E6.5-6.8 of the ACMG technical standards and guidelines: chromosome studies of lymph node and solid tumor-acquired chromosomal abnormalities.

Genet Med 2016 06 28;18(6):643-8. Epub 2016 Apr 28.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.

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http://dx.doi.org/10.1038/gim.2016.51DOI Listing
June 2016

Actin capping protein CAPZB regulates cell morphology, differentiation, and neural crest migration in craniofacial morphogenesis†.

Hum Mol Genet 2016 Apr 11;25(7):1255-70. Epub 2016 Jan 11.

Center for Regenerative Medicine, Division of Plastic and Reconstructive Surgery, Harvard Medical School, Harvard University, Boston, MA 02114, USA

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http://dx.doi.org/10.1093/hmg/ddw006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4787901PMC
April 2016

Reporting of Diagnostic Cytogenetic Results.

Curr Protoc Hum Genet 2016 Apr 1;89:A.1D.1-A.1D.23. Epub 2016 Apr 1.

Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts.

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http://dx.doi.org/10.1002/0471142905.hg01ds89DOI Listing
April 2016

A role for HLA-DRB1*1101 and DRB1*0801 in cognitive ability and its decline with age.

Am J Med Genet B Neuropsychiatr Genet 2016 Mar 16;171B(2):209-14. Epub 2015 Oct 16.

Centre for Clinical and Cognitive Neuroscience, Institute of Brain Behaviour and Mental Health, Salford Royal NHS Hospital, The University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.b.32393DOI Listing
March 2016

Training the Future Leaders in Personalized Medicine.

J Pers Med 2016 Jan 7;6(1). Epub 2016 Jan 7.

Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, 75 Francis Street, Boston, MA 02115, USA.

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http://dx.doi.org/10.3390/jpm6010001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4810380PMC
January 2016

Cutaneous and Uterine Leiomyomas.

Mayo Clin Proc 2015 Jul;90(7):990

Harvard Medical School, Brigham and Women's Hospital, Boston, MA.

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http://dx.doi.org/10.1016/j.mayocp.2015.04.014DOI Listing
July 2015

A changing of the guard at human genetics.

Hum Genet 2015 Jan;134(1)

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http://dx.doi.org/10.1007/s00439-014-1510-9DOI Listing
January 2015

Cochlin in normal middle ear and abnormal middle ear deposits in DFNA9 and Coch (G88E/G88E) mice.

J Assoc Res Otolaryngol 2014 Dec 22;15(6):961-74. Epub 2014 Jul 22.

Department of Obstetrics, Gynecology and Reproductive Biology, Brigham and Women's Hospital, Harvard Medical School, 77 Avenue Louis Pasteur, NRB 160, Boston, MA, 02115, USA,

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http://dx.doi.org/10.1007/s10162-014-0481-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4389958PMC
December 2014

Functional analysis of SPECC1L in craniofacial development and oblique facial cleft pathogenesis.

Plast Reconstr Surg 2014 Oct;134(4):748-59

Boston and Cambridge, Mass.; and Vienna, Austria From the Division of Plastic and Reconstructive Surgery and the Center for Regenerative Medicine, Massachusetts General Hospital, Harvard Medical School; the Center for Pathophysiology, Infectiology and Immunology, Medical University of Vienna; the Departments of Obstetrics, Gynecology and Reproductive Biology, and Pathology, Brigham and Women's Hospital, Harvard Medical School; and the Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology.

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http://dx.doi.org/10.1097/PRS.0000000000000517DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4430087PMC
October 2014

Spectrum of genes involved in a unique case of Potocki Schaffer syndrome with a large chromosome 11 deletion.

Clin Neuropathol 2014 May-Jun;33(3):238-44

Institute of Pathology, Neuropathology Section, Jena University Hospital, Friedrich-Schiller-University, Jena, Institute of Neuropathology, Saarland University, School of Medicine, Homburg/S., Germany, Genetic Diagnostic Laboratory, Department of Laboratory Medicine, Children's Hospital Boston, Waltham, MA, Department of Obstetrics and Gynecology, Institute of Molecular Medicine and Genetics, Georgia Regents University, Augusta, GA, and Departments of Obstetrics, Gynecology, and Reproductive Biology and of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4199189PMC
http://dx.doi.org/10.5414/np300691DOI Listing
July 2014

Describing sequencing results of structural chromosome rearrangements with a suggested next-generation cytogenetic nomenclature.

Am J Hum Genet 2014 May 17;94(5):695-709. Epub 2014 Apr 17.

Department of Obstetrics, Gynecology, and Reproductive Biology, Brigham and Women's Hospital, Boston, MA 02115, USA; Department of Pathology, Brigham and Women's Hospital, Boston, MA 02115, USA; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA; Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.03.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4067557PMC
May 2014

Abstract 14: requirement of specc1lb in facial prominence integration and formation of the lower jaw.

Plast Reconstr Surg 2014 Mar;133(3 Suppl):24

1MGH, Boston, MA, 2Brigham and Women's Hospital, Boston, MA.

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http://dx.doi.org/10.1097/01.prs.0000445007.18495.25DOI Listing
March 2014

Identification and function of long non-coding RNA.

Front Cell Neurosci 2013 Oct 2;7:168. Epub 2013 Oct 2.

Douglas Hospital Research Institute Montreal, QC, Canada ; Department of Psychiatry, McGill University Montreal, QC, Canada.

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http://dx.doi.org/10.3389/fncel.2013.00168DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3788346PMC
October 2013

Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome.

Clin Case Rep 2013 10;1(1)

Program in Genomics, Boston Children's Hospital, Boston, MA 02115 USA ; Department of Medicine (Genetics), Boston Children's Hospital, Boston, MA 02115 USA ; Department of Neurology, Boston Children's Hospital, Boston, MA 02115 USA ; Department of Ophthalmology, Boston Children's Hospital, Boston, MA 02115 USA ; FM Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115 USA ; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115 USA ; Harvard Medical School, Boston, MA 02115 USA ; Howard Hughes Medical Institute, Chevy Chase, MD 20815 USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3885256PMC
http://dx.doi.org/10.1002/ccr3.11DOI Listing
October 2013

Mechanisms for Structural Variation in the Human Genome.

Curr Genet Med Rep 2013 Jun;1(2):81-90

Departments of Obstetrics, Gynecology and Reproductive Biology, Brigham and Women's Hospital and Harvard Medical School, New Research Building, Room 160D, 77 Avenue Louis Pasteur, Boston, MA 02115, USA. Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.1007/s40142-013-0012-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3665418PMC
June 2013

Genomic alterations in myeloid neoplasms with novel, apparently balanced translocations.

Cancer Genet 2011 Feb;204(2):68-76

Department of Pathology, Brigham and Women's Hospital, Boston, MA, USA.

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http://dx.doi.org/10.1016/j.cancergen.2010.12.005DOI Listing
February 2011

Disseminated peritoneal leiomyomatosis after laparoscopic supracervical hysterectomy with characteristic molecular cytogenetic findings of uterine leiomyoma.

Genes Chromosomes Cancer 2010 Dec;49(12):1152-60

Department of Obstetrics, Gynecology and Reproductive Biology, Brigham and Women's Hospital and Harvard Medical School, 77 Ave. Louis Pasteur, Boston, MA 02115, USA.

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http://dx.doi.org/10.1002/gcc.20824DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2955189PMC
December 2010

Disseminated peritoneal leiomyomatosis after laparoscopic supracervical hysterectomy with characteristic molecular cytogenetic findings of uterine leiomyoma.

Genes Chromosomes Cancer 2010 Dec;49(12):1152-60

Department of Obstetrics, Gynecology and Reproductive Biology, Brigham and Women's Hospital and Harvard Medical School, 77 Ave. Louis Pasteur, Boston, MA 02115, USA.

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http://dx.doi.org/10.1002/gcc.20824DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2955189PMC
December 2010

Uterine leiomyomata and decreased height: a common HMGA2 predisposition allele.

Hum Genet 2009 Apr 9;125(3):257-63. Epub 2009 Jan 9.

Department of Obstetrics, Gynecology and Reproductive Biology, Brigham and Women's Hospital, Boston, MA 02115, USA.

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http://dx.doi.org/10.1007/s00439-008-0621-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2839499PMC
April 2009

Novel SSBP2-JAK2 fusion gene resulting from a t(5;9)(q14.1;p24.1) in pre-B acute lymphocytic leukemia.

Genes Chromosomes Cancer 2008 Oct;47(10):884-9

Department of Pathology, Brigham and Women's Hospital, Boston, MA 02115, USA.

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http://dx.doi.org/10.1002/gcc.20585DOI Listing
October 2008

Molecular and cytogenetic characterization of plexiform leiomyomata provide further evidence for genetic heterogeneity underlying uterine fibroids.

Am J Pathol 2008 May 10;172(5):1403-10. Epub 2008 Apr 10.

Brigham and Women's Hospital, Department of Obstetrics and Gynecology and Reproductive Biology, 77 Avenue Louis Pasteur, Boston, MA 02115, USA.

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http://dx.doi.org/10.2353/ajpath.2008.071102DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2329848PMC
May 2008

Structural genomic variation and personalized medicine.

N Engl J Med 2008 Feb;358(7):740-1

Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, USA.

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http://dx.doi.org/10.1056/NEJMcibr0708452DOI Listing
February 2008

Ion channel gene expression in the inner ear.

J Assoc Res Otolaryngol 2007 Sep 1;8(3):305-28. Epub 2007 Jun 1.

Hewlett-Packard Labs, 1501 Page Mill Road, Palo Alto, CA 94304, USA.

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http://dx.doi.org/10.1007/s10162-007-0082-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2538437PMC
September 2007

Cochlin in the eye: functional implications.

Prog Retin Eye Res 2007 Sep 22;26(5):453-69. Epub 2007 Jun 22.

Bascom Palmer Eye Institute, University of Miami, Miami, FL 33136, USA.

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http://dx.doi.org/10.1016/j.preteyeres.2007.06.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2064858PMC
September 2007

Is the disruption of an N-myristoyltransferase (NMT2) associated with hypoplastic testes?

Am J Med Genet A 2007 Aug;143A(15):1796-8

Massachusetts General Hospital, Center for Human Genetic Research, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1002/ajmg.a.31799DOI Listing
August 2007

Disruption of diacylglycerol kinase delta (DGKD) associated with seizures in humans and mice.

Am J Hum Genet 2007 Apr 12;80(4):792-9. Epub 2007 Feb 12.

Department of Obstetrics, Gynecology, and Reproductive Biology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA.

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http://dx.doi.org/10.1086/513019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1852716PMC
April 2007

Genetic heterogeneity among uterine leiomyomata: insights into malignant progression.

Hum Mol Genet 2007 Apr;16 Spec No 1:R7-13

Department of Obstetrics, Gynecology and Reproductive Biology, Harvard Medical School, Brigham and Women's Hospital, Boston, MA 02115, USA.

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http://dx.doi.org/10.1093/hmg/ddm043DOI Listing
April 2007