Publications by authors named "Marilyn Jones"

83Publications

Postmortem diagnosis of PPA2-associated sudden cardiac death from dried blood spot in a neonate presenting with vocal cord paralysis.

Cold Spring Harb Mol Case Stud 2020 Oct 7;6(5). Epub 2020 Oct 7.

Rady Children's Institute of Genomic Medicine, University of California San Diego, La Jolla, California 92093, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1101/mcs.a005611DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7552926PMC
October 2020

Health Supervision for People With Achondroplasia.

Pediatrics 2020 06;145(6)

Department of Pediatrics, University of California, San Diego and Rady Children's Hospital, San Diego, California.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1542/peds.2020-1010DOI Listing
June 2020

Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations.

Am J Hum Genet 2020 01 26;106(1):121-128. Epub 2019 Dec 26.

The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, M5G 1X5, Canada; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, M5G 1X8, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2019.12.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7042489PMC
January 2020

Further phenotypic characterization of Kaufman oculocerebrofacial syndrome: report of five new cases and literature review.

Clin Dysmorphol 2019 Oct;28(4):175-183

Department of Pediatrics, Division of Genetics and Dysmorphology, UC San Diego/Rady Children's Hospital.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0000000000000282DOI Listing
October 2019

Whole-exome sequencing reveals novel variant in female fetus with isolated agenesis of the corpus callosum.

Clin Case Rep 2019 Apr 19;7(4):656-660. Epub 2019 Feb 19.

Division of Genetics, Department of Pediatrics University of California San Diego California.

View Article

Download full-text PDF

Source
https://onlinelibrary.wiley.com/doi/abs/10.1002/ccr3.2051
Publisher Site
http://dx.doi.org/10.1002/ccr3.2051DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6452501PMC
April 2019

A novel autosomal dominant mutation in SOX18 resulting in a fatal case of hypotrichosis-lymphedema-telangiectasia syndrome.

Am J Med Genet A 2018 12 14;176(12):2824-2828. Epub 2018 Dec 14.

Department of Pediatrics, University of California, San Diego and Rady Children's Hospital, San Diego, California.

View Article

Download full-text PDF

Source
https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.40532
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.40532DOI Listing
December 2018

A fetal diagnostic center's referral rate for perinatal palliative care.

Ann Palliat Med 2018 Apr 4;7(2):177-185. Epub 2017 May 4.

UCSD Maternal-Fetal Care and Genetics, CA, USA; Department of Radiology, UC San Diego, CA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.21037/apm.2017.03.12DOI Listing
April 2018

Enlarged Cavum Septi Pellucidi and Vergae in the Fetus: A Cause for Concern.

J Ultrasound Med 2017 Aug 18;36(8):1657-1668. Epub 2017 Apr 18.

Maternal-Fetal Care and Genetics Center, University of California, San Diego, California, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.7863/ultra.16.06081DOI Listing
August 2017

Incidence of Le Fort Surgery in a Mature Cohort of Patients With Cleft Lip and Palate.

Ann Plast Surg 2017 May;78(5 Suppl 4):S199-S203

From the *Division of Plastic Surgery, Department of Surgery, UC San Diego Medical Center, San Diego, CA; †Division of Plastic Surgery, University of Massachusetts Memorial, Worcester, MA; and ‡Division of Genetics and Dysmorphology, Rady Children's Hospital San Diego, San Diego, CA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/SAP.0000000000001049DOI Listing
May 2017

Gastrointestinal disorders in Curry-Jones syndrome: Clinical and molecular insights from an affected newborn.

Am J Med Genet A 2017 Jun 6;173(6):1586-1592. Epub 2017 Apr 6.

Department of Pediatrics, University of California San Diego and Rady Children's Hospital - San Diego, San Diego, California.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38232DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5933242PMC
June 2017

Mutation of WIF1: a potential novel cause of a Nail-Patella-like disorder.

Genet Med 2017 10 6;19(10):1179-1183. Epub 2017 Apr 6.

The Scripps Translational Science Institute, La Jolla, California, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2017.20DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5629099PMC
October 2017

Effect of Surgeon Volume and Craniofacial Fellowship Training on Cleft Palate Complication Rates.

Ann Plast Surg 2017 May;78(5 Suppl 4):S229-S232

From the *Division of Plastic Surgery, University of California San Diego, School of Medicine, La Jolla; †Divisions of Plastic Surgery and Genetics/Dysmorphology, Rady Children's Hospital San Diego, San Diego, CA; and ‡Division of Plastic Surgery, University of Massachusetts Medical School, Worcester, MA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/SAP.0000000000001046DOI Listing
May 2017

Number of Surgical Procedures for Patients With Cleft lip and Palate From Birth to 21 Years Old at a Single Children's Hospital.

Ann Plast Surg 2016 May;76 Suppl 3:S205-8

From the *Division of Plastic Surgery, Department of Surgery, University of Massachusetts Medical School, Worcester, MA; †Division of Plastic Surgery, Department of Surgery, University of California San Diego School of Medicine; ‡Clinical and Translational Research Institute (CTRI), University of California San Diego; §Department of Pediatrics, University of California San Diego School of Medicine, La Jolla, CA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/SAP.0000000000000765DOI Listing
May 2016

Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene.

Am J Med Genet A 2016 Apr 5;170A(4):992-8. Epub 2016 Jan 5.

Laboratory for Pediatric Brain Diseases, Howard Hughes Medical Institute, The Rockefeller University, New York City, New York.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37533DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5011457PMC
April 2016

Maternal and fetal capillary malformation-arteriovenous malformation (CM-AVM) due to a novel RASA1 mutation presenting with prenatal non-immune hydrops fetalis.

Am J Med Genet A 2015 Oct 11;167A(10):2440-3. Epub 2015 Jun 11.

Division of Genetics, Department of Pediatrics, University of California, San Diego, California.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37203DOI Listing
October 2015

The Society for Craniofacial Genetics and Developmental Biology 37th annual meeting.

Am J Med Genet A 2015 Jul 30;167(7):1455-73. Epub 2015 Mar 30.

Stowers Institute for Medical Research, Kansas City, MO.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37012DOI Listing
July 2015

Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy.

Case Rep Genet 2014 3;2014:508231. Epub 2014 Feb 3.

University of Chicago, 5841 South Maryland Avenue, Chicago, IL 60637, USA ; Department of Human Genetics, University of Chicago, 5841 South Maryland Avenue, Chicago, IL 60637, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1155/2014/508231DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3930135PMC
March 2014

Prenatally diagnosed fetal split-hand/foot malformations often accompany a spectrum of anomalies.

J Ultrasound Med 2014 Jan;33(1):167-76

Thornton Hospital, 9300 Campus Point Dr, 7756, La Jolla, CA 92037 USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.7863/ultra.33.1.167DOI Listing
January 2014

Growth charts for 22q11 deletion syndrome.

Am J Med Genet A 2012 Nov 6;158A(11):2672-81. Epub 2012 Aug 6.

Department of Pediatric Neurology, Miami Children's Hospital, Miami, Florida, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35485DOI Listing
November 2012

Underlying genetic diagnosis of Pierre Robin sequence: retrospective chart review at two children's hospitals and a systematic literature review.

J Pediatr 2012 Apr 1;160(4):645-650.e2. Epub 2011 Nov 1.

Center for Human Genetics, University Hospitals Case Medical Center and the Department of Pediatrics, Rainbow Babies and Children's Hospital, Cleveland, OH, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jpeds.2011.09.021DOI Listing
April 2012

Diagnosis of fetal limb abnormalities before 15 weeks: cause for concern.

J Ultrasound Med 2011 Jul;30(7):1009-19

Department of Radiology, University of California, San Diego Medical Center, 9300 Campus Point Dr, La Jolla, CA 92037, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.7863/jum.2011.30.7.1009DOI Listing
July 2011

Evaluation of the fetal secondary palate by 3-dimensional ultrasonography.

J Ultrasound Med 2010 Mar;29(3):357-64

Department of Reproductive Medicine, University of California, San Diego, La Jolla, California, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.7863/jum.2010.29.3.357DOI Listing
March 2010

Mandatory influenza vaccination of health care workers: translating policy to practice.

Clin Infect Dis 2010 Feb;50(4):459-64

Washington University School of Medicine, St Louis, MO 63110, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1086/650752DOI Listing
February 2010

Influenza vaccination among healthcare workers: ten-year experience of a large healthcare organization.

Infect Control Hosp Epidemiol 2010 Mar;31(3):233-40

Infectious Disease Division, Washington University in St. Louis School of Medicine, St Louis, Missouri 63110, USA.

View Article

Download full-text PDF

Source
https://www.cambridge.org/core/product/identifier/S019594170
Publisher Site
http://dx.doi.org/10.1086/650449DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3919446PMC
March 2010

Mapping quantitative trait loci (QTL) in sheep. I. A new male framework linkage map and QTL for growth rate and body weight.

Genet Sel Evol 2009 Apr 24;41:34. Epub 2009 Apr 24.

ReproGen--Advanced Technologies in Animal Genetics and Reproduction, Faculty of Veterinary Science, University of Sydney, 425 Werombi Road, Camden, NSW 2570, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1297-9686-41-34DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2686678PMC
April 2009

Developing a national collaborative study system for rare genetic diseases.

Genet Med 2008 May;10(5):325-9

American College of Medical Genetics, Bethesda, Maryland 20814, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/GIM.0b013e31817b80fdDOI Listing
May 2008

Expanding the phenotype of mosaic trisomy 20.

Am J Med Genet A 2008 Feb;146A(3):330-6

Department of Pediatrics, University of California, San Diego, California 92123, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.32126DOI Listing
February 2008

Brain anomalies in encephalocraniocutaneous lipomatosis.

Am J Med Genet A 2007 Dec;143A(24):2963-72

Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.32074DOI Listing
December 2007

Case-control study of surgical site infections associated with pacemakers and implantable cardioverter-defibrillators.

Infect Control Hosp Epidemiol 2007 Nov 27;28(11):1299-304. Epub 2007 Aug 27.

Division of Infectious Diseases, Washington University School of Medicine, St. Louis, MO 63110, USA.

View Article

Download full-text PDF

Source
https://www.cambridge.org/core/product/identifier/S019594170
Publisher Site
http://dx.doi.org/10.1086/520744DOI Listing
November 2007

Catheter-associated bloodstream infections in general medical patients outside the intensive care unit: a surveillance study.

Infect Control Hosp Epidemiol 2007 Aug 27;28(8):905-9. Epub 2007 Jun 27.

Division of Infectious Diseases, Washington University School of Medicine, St. Louis, MO 63110, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1086/519206DOI Listing
August 2007

Facial nerve paralysis: an unrecognized cause of lower eyelid entropion in the pediatric population.

Ophthalmic Plast Reconstr Surg 2007 Mar-Apr;23(2):126-9

Division of Ophthalmic Plastic and Reconstructive Surgery, Department of Ophthalmology, Shiley Eye Center, University of California, San Diego, La Jolla, California 92093-0946, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/IOP.0b013e318031d807DOI Listing
April 2007

Low vision service models in Alberta: innovation, collaboration, and future opportunities.

Can J Ophthalmol 2006 Jun;41(3):373-7

Canadian National Institute for the Blind, Calgary, AB.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1139/I06-028DOI Listing
June 2006

Eradication of methicillin-resistant Staphylococcus aureus from a neonatal intensive care unit by active surveillance and aggressive infection control measures.

Infect Control Hosp Epidemiol 2005 Jul;26(7):616-21

Department of Internal Medicine, Division of Infectious Diseases, Washington University School of Medicine, St. Louis, Missouri 63110, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1086/502590DOI Listing
July 2005

Koilonychia, dome-shaped epiphyses, and vertebral platyspondylia.

J Pediatr 2005 Jul;147(1):112-4

Children's Hospital and Health Center, Pediatric and Adolescent Dermatology, University of California-San Diego, San Diego, CA 92123, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jpeds.2005.03.042DOI Listing
July 2005

Dizygotic twin pregnancy conceived with assisted reproductive technology associated with chromosomal anomaly, imprinting disorder, and monochorionic placentation.

J Pediatr 2005 Apr;146(4):565-7

Department of Pediatrics, Division of Medical Genetics, University of California-San Francisco, San Francisco, CA, USA.

View Article

Download full-text PDF

Source
http://linkinghub.elsevier.com/retrieve/pii/S002234760401173
Publisher Site
http://dx.doi.org/10.1016/j.jpeds.2004.12.021DOI Listing
April 2005

Megalourethra: A report of three cases associated with maternal diabetes and a review of the literature--is sonic hedgehog the common pathway?

Am J Med Genet A 2005 Jan;132A(3):314-7

Department of Pediatrics, University of California, San Diego, La Jolla, California, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.30286DOI Listing
January 2005

Neonatal phenotype in Kabuki syndrome.

Am J Med Genet A 2005 Jan;132A(3):244-7

Department of Pediatrics, University of California, San Diego, La Jolla, California, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.30336DOI Listing
January 2005

Developmental outcome in Kabuki syndrome.

Am J Med Genet A 2005 Jan;132A(3):263-4

Division of Dysmorphology, Department of Pediatrics, University of California, San Diego, La Jolla, California, USA.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.30338
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.30338DOI Listing
January 2005

An educational intervention to reduce ventilator-associated pneumonia in an integrated health system: a comparison of effects.

Chest 2004 Jun;125(6):2224-31

Division of Infectious Diseases, Washington University School of Medicine, St Louis, MO, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1378/chest.125.6.2224DOI Listing
June 2004

Marfanoid habitus with abnormal situs.

Am J Med Genet A 2004 Jun;127A(3):310-2

Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.30022
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.30022DOI Listing
June 2004

Risk factors for surgical site infection in spinal surgery.

J Neurosurg 2003 Mar;98(2 Suppl):149-55

Division of Infectious Diseases and Neurosurgery, Washington University School of Medicine, St Louis, Missouri 63110, USA.

View Article

Download full-text PDF

Source
March 2003

Risk factors for spinal surgical-site infections in a community hospital: a case-control study.

Infect Control Hosp Epidemiol 2003 Jan;24(1):31-6

Division of Infectious Diseases, Washington University School of Medicine, St. Louis, Missouri 63110, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1086/502112DOI Listing
January 2003

Prenatal evaluation of facial clefts with two-dimensional and adjunctive three-dimensional ultrasonography: a prospective trial.

Am J Obstet Gynecol 2002 Oct;187(4):946-9

Division of Reproductive Medicine, University of California, San Diego, CA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1067/mob.2002.127127DOI Listing
October 2002

Prenatal diagnosis of cleft lip and palate: detection rates, accuracy of ultrasonography, associated anomalies, and strategies for counseling.

Authors:
Marilyn C Jones

Cleft Palate Craniofac J 2002 Mar;39(2):169-73

Sharp-Children's Prenatal Diagnostic Center and Cleft Palate and Craniofacial Treatment Programs, Children's Hospital, San Diego, CA 92123, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1597/1545-1569_2002_039_0169_pdocla_2.0.co_2DOI Listing
March 2002

Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocol.

Am J Med Genet 2002 Feb;108(1):80-7

Division of Medical Genetics, A. I. duPont Hospital for Children, Wilmington, Delaware 19899, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.10241DOI Listing
February 2002