Publications

Dr. Day-Salvatore's Publications

 
SELECTED PUBLICATIONS:
  1. The Pompe Disease Newborn Screening Working Group. “Introduction to the Newborn Screening, Diagnosis, and Treatment for Pompe Disease Guidance Supplement”. Pediatrics July 2017 Supplement.
  1. Clarke LA, Atherton AM, Burton BK, Day-Salvatore DL, Kaplan P, Leslie ND, Scott CR, Stockton DW, Thomas JA, Muenzer J (MPS I Newborn Screening Working Group). “MPS I Newborn Screening: Best Practices for Diagnosis and Management “. Journal of Pediatrics epub ahead of printing Dec 7, 2016.
  1. Bhoj EJ, Li D, Harr M, Edvardson S, Elpeleg O, Chisholm E, Juusola J, Douglas G, Guillen Sacoto MJ, Siquier-Pernet K, Saadi A, Bole-Feysot C, Nitschke P, Narravula A, Walke M, Horner MB, Day-Salvatore DL, Jayakar P, Vergano SA, Tarnopolsky MA, Hegde M, Colleaux L, Crino P, Hakonarson H. “Mutations in TBCK, Encoding TBC1- Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia”. Am J Hum Genet. 2016 Apr 7; 98(4):782-8.
  1. Bertrand Isidor, Olivier Pichon, Richard Redon, Debra Day-Salvatore, Antoine Hamel, Lena Kjellén, Cornelia Kraus, Jules G. Leroy, Geert R. Mortier, Anita Rauch, Alain Verloes, Albert David, Cédric Le Caignec. “Mesomelia-synostosis syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13”. Am J Hum Genet 2010; 87(1):95-100.
  1. Tortorelli S, Turgeon CT, Lim JS, Baumgart S, Day-Salvatore DL, Abdenur J, Bernstein JA, Lorey F, Lichter-Konecki U, Oglesbee D, Raymond K, Matern D, Schimmenti L, Rinaldo P, Gavrilov DK. “Two-Tier Approach to the Newborn Screening of Methylenetetrahydrofolate Reductase Deficiency and Other Remethylation Disorders with Tandem Mass Spectrometry”. J Pediatr. 2010; 157(2):271-275.
  1. Bi W, Sapir T, Shchelochkov OA, Zhang F, Withers MA, Hunter JV, Levy T, Shinder V, Peiffer DA, Gunderson KL, Nezarati MM, Shotts VA, Amato SS, Savage SK, Harris DJ, Day-Salvatore DL, Horner M, Lu XY, Sahoo T, Yanagawa Y, Beaudet AL, Cheung SW, Martinez S, Lupski JR, Reiner O. Increased LIS1 expression affects human and mouse brain development. Nat Genet 2009; 41(2):168-77.
  1. Ficicioglu C, Thomas N, Yager C, Gallagher PR, Hussa C, Mattie A, Day-Salvatore DL, Forbes, BJ. Duarte (DG) galactosemia: A pilot study of biochemical and neuro- developmental assessment in children detected by newborn screening. Mol Genet Metab 2008; 95(4):206-212.
  1. Yeo L, Waldron R, Lashley S, Day-Salvatore D, Vintzileos AM. Prenatal sonographic findings associated with non-mosaic trisomy 9 and literature review. J Ultrasound Med 2003; 22(4):425-30.
  1. Yeo L, Guzman ER, Ananth CV, Walters C, Day-Salvatore D, Vintzileos AM. Prenatal detection of fetal aneuploidy by sonographic ear length. J Ultrasound Med 2003; 22(6):565- 76; quiz 578-9
  1. Yeo L, Guzman ER, Day-Salvatore D, Walters C, Chavez D, Vintzileos AM. Prenatal detection of fetal trisomy 18 through abnormal sonographic features. J Ultrasound Med 2003; 22(6):581-90; quiz 591-2.
  1. Li M, Shuman C, Fei, YL, Cutiongco E, Bender HA, Stevens C, Wilkins-Haug L, Day-Salvatore DL, Yong SL, Geraghty MT, Squire J, Weksberg R. GPC3 Mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome.  Am J Med Genet 2001; 102:161-168.
  1. Pellegrino JE, Engel JM, Chavez D, Day-Salvatore D.  Oculo-Palatal-Cerebral Syndrome: A Second Case.  Am J Med Genet 2001; 99:200-203.
  1. Day-Salvatore D, McLean D.  Belpharophimosis, hypoplastic radius, hypoplastic left heart, telecanthus, hydronephrosis, fused metacarpals and "prehensile" halluces:  a new syndrome? J Med Genetics 1998;80(4):309-313.
  1. Ranzini AC, Day-Salvatore D, Farren-Chavez D, McLean DA, Greco R.  Prenatal Diagnosis of Cornelia de Lange Syndrome.  J Ultrasound Med 1997;16(11):755-758.
  1. Ranzini AC, Day-Salvatore D, Turner T, Smulian JC, Vintzileos AM.  Intrauterine Growth and Ultrasound Findings in Fetuses with Beckwith-Wiedemann Syndrome. Obstet Gynecol 1997;89(4):538-542.
  1. Day-Salvatore D, Smulian J, Guzman E, Mohan C, Weinberger B, Hanley ML, Richardson R. Genetics Casebook:  Pallister-Killian Syndrome.  J Perinatology 1996;16:406-412.
  1. Day-Salvatore D, Guzman E, Weinberger B, Shen-Schwartz S, Houlihan C.  Genetics Casebook:  Amniotic band syndrome.  J Perinatology 1995;1:74-77.
  1. Guzman ER, Ranzini, AC, Day-Salvatore D, Weinberger B, Spigland N, Vintzileos A.  The prenatal ultrasonographic visualization of imperforate anus in a set of monoamniotic twins.  J Ultrasound Med 1995;14(7):547-551.
  1. Day-Salvatore D, Guzman E, Farren-Chavez D, Sciorra L, Knuppel R.  Genetics Casebook: Duplication-deletion syndromes.  J Perinatology 1995;15(4):333-337.
  1. Guzman E R, Spigland N, Day-Salvatore D, Vintzileos A, Shen-Schwartz S.  Congenital cystic adenomatoid malformation of the lung, type I, associated with hydrops successfully treated with serial aspiration. J Maternal Fetal Medicine 1995;4:402-408.
  1. Guzman, ER, Day-Salvatore D, Westover T, Rosenberg JC, Beim D, Grabelle H.  Prenatal ultrasonographic demonstration of the trident hand in heterozygous achondroplasia.  J Ultrasound Med 1994;13(1):63-66.
 MULTIPLE CHAPTERS:
Day-Salvatore D.  29 Chapters.  In Fetal Disorders:  A Multidisciplinary Approach, Boris Petrikovsky (ed), John Wiley & Sons, New York, 1998.  (also translated into Polish by D.W. Publishing Co., Warsaw).
 
SELECTED LECTURES BY INVITATION:
 
06/23/17   2017 North American Rare Disease Registries Meeting. Welcome and Overview on “Furthering Disease Understanding to Improve Patient Lives”. The Westin, Chicago,IL.
 
06/09/17   9th Annual Philadelphia Prenatal Diagnosis, Ultrasound, Obstetrics, and MFM Conference: “Syndromic and Metabolic Causes of Non-Immune Hydrops”. Hilton Philadelphia City Avenue, Philadelphia, PA.
 
06/08/17    9th Annual Philadelphia Prenatal Diagnosis, Ultrasound, Obstetrics, and MFM Conference: “Genetic Evaluation and Counseling for the IUGR Fetus”; “Genetic, Epigenetic, and Phenotypic Discordance in Monozygotic Twins”. Hilton Philadelphia City Avenue, Philadelphia, PA.
 
04/25/17    AAP NJ Chapter and DOH Conference – From ALD to Zika: Newborn Screening and Surveillance in NJ. “Seven Additional Newborn Screening Disorders Coming to NJ: Are You Ready?” The National Conference Center, East Windsor, NJ.
 
02/28/17   ExamPro MFM (Maternal-Fetal Medicine) National Board Review Course: "Basic Genetics and Patterns of Inheritance"; "Chromosome Analysis"; "Common Chromosome Aberrations in Humans, Abortuses and Stillbirths"; "Prenatal Genetic Screening"; "Teratogenesis"; "Cell Cycle, Mitosis, and Meiosis"; "Prenatal Diagnosis of Congenital Disorders"; "Exam Practice Problems". Maryland.
 
11/04/16   2016 East Regional Rare Disease Registries Meeting: “Carpal Tunnel Assessment and Management in Patients with MPS I Disease”. Seaport Hotel, Boston, MA.
 
05/06/16   8th Annual Philadelphia Prenatal Diagnosis, Ultrasound, Obstetrics, and MFM Conference: “Genetic Syndromes Associated with Neural Tube Defects and CNS Malformations”.  Hilton Philadelphia at Penn’s Landing, Philadelphia, PA.
 
10/22/15   ANNA NJ Collaborative Conference: “Fabry Disease”. East Windsor, NJ.
 
09/30/14   SPUH: “Update on Cerdelga”. New Brunswick, NJ.
 
06/06/14    6th Annual Philadelphia Prenatal Diagnosis & Obstetrics Conference: Practical Genetic Counseling – Case-Based”.  Hilton Philadelphia City Avenue, Philadelphia, PA.
 
05/13/14    HGANJ Symposium: “Lysosomal Storage Disorders”. Morristown, NJ.
 
01/16/14    Pediatric Grand Rounds: A Case-Based Approach to Understanding Genetic Laboratory Testing”. New Brunswick, NJ.
 
09/28/13    14th Annual SPUH Pediatric Sub-Specialty Day Symposium: “A Case-Based Approach to Understanding Genetic Laboratory Testing”. New Brunswick, NJ.
 
07/24/13    SPUH Breast Cancer Conference: “Genetics of Breast Cancer”. New Brunswick, NJ.
 
06/08/13    5th Annual Philadelphia Prenatal Diagnosis & Obstetrics Conference: “Fetal Genetic Skeletal Disorders” and “Genetics of Orofacial Clefts”.  Hilton Philadelphia City Avenue, Philadelphia, PA.
 
06/05/13    Central Jersey Family Health Consortium’s Ohhh Baby…Look Who’s Talking Conference: “Update on Newborn Screening Expansion in New Jersey”. Somerset Medical Center, Somerville, NJ.

05/02/13    SPUH Pediatric Grand Rounds: “Update on Newborn Screening Expansion in New Jersey”. New Brunswick, NJ.

04/07/13    Massachusetts General Hospital: “Women’s Health Issues in Gaucher and Fabry Disease”. Russell Museum of Medical History and Innovation, Boston, Massachusetts.
 
03/04/13   ExamPro MFM (Maternal-Fetal Medicine) National Board Review Course: "Basic Genetics and Patterns of Inheritance"; "Chromosome Analysis"; "Common Chromosome Aberrations in Humans"; "Chromosome Abnormalities in Abortuses and Stillbirths"; "Maternal-Fetal Indications for Chromosome Analysis"; "Teratogenesis"; "Cell Cycle, Mitosis, and Meiosis"; Genetic Testing and DNA Diagnostics"; "Prenatal Diagnosis of Congenital Disorders"; "Exam Practice Problems". Crowne Plaza Hotel, Timonium, Maryland.
 
01/18/13   Central Jersey Family Health Consortium: “Update on Newborn Screening Expansion in New Jersey”. North Brunswick, NJ.
 
11/28/12   Hackensack University Medical Center Pediatric Grand Rounds: “Update on Newborn Screening Expansion in New Jersey”. Hackensack, NJ.
 
11/11/11   SPUH Family Medicine and OB Grand Rounds: “Integrating Genetics and Genomics into Medical Practice”.
 
10/19/11   CentraState Medical Center Grand Rounds in Pediatrics and Family Medicine:“Integrating Genetics and Genomics into Medical Practice”.
 
05/18/11   Cleveland Clinic Foundation Keynote Address at Pediatric Research Day: “Integrating Genetics and Genomics into Medical Practice: It’s Time”. Cleveland, Ohio.
 
03/14/11   ExamPro MFM (Maternal-Fetal Medicine) National Board Review Course: "Basic Genetics and Patterns of Inheritance"; "Chromosome Analysis"; "Common Chromosome Aberrations in Humans"; "Chromosome Abnormalities in Abortuses and Stillbirths"; "Maternal-Fetal Indications for Chromosome Analysis"; "Teratogenesis"; "Cell Cycle, Mitosis, and Meiosis"; Genetic Testing and DNA Diagnostics"; "Prenatal Diagnosis of Congenital Disorders"; "Exam Practice Problems". Crowne Plaza Hotel, Timonium, Maryland.
 
01/26/11   UMDNJ-RWJMS: "PKU Clinical Correlation".
 
04/03/09    National Web-Based Seminar on “Gaucher Disease and Pregnancy” sponsored by Genzyme, Inc.
 
09/26/08    Maimonides Medical Center’s Interdepartmental Grand Rounds: “Interventional Genetic Medicine: Enzyme Replacement Therapy in the Treatment of Lysosomal Storage Diseases”.
 
09/27/06    Brigham Women and Children’s Hospital, Boston, MA. “Jewish ancestry screening”; Management of Gaucher Disease during Pregnancy”; “Population-based Genetic Testing and Screening Panels”.
 
01/14/05    Exceptional Parent Teleconference on Pediatric Disabilities in the Lysosomal
Storage Disorders Pompe Disease & MPS I, Teleconference and Web Seminar.
 
10/05/04    HRET Newborn Screen Symposium, Princeton, NJ. Topic: “The Role of Metabolic Centers of Excellence in the Evaluation, Diagnosis, Management, and Treatment of Infants with Positive Newborn Metabolic Screens”.
 
11/20/03    American Conference Institute: Reducing the Risk of Obstetric Malpractice, Philadelphia, PA. Topic: “Recent Medical and Legal Developments in Prenatal Diagnosis and Screening for Fetal Anomalies and Genetic Disorders”.
 
05/09/03    2003 Mid-Atlantic Cystic Fibrosis Retreat, Villanova, PA. Topic: “The Genetics of Cystic Fibrosis”.
 
04/20/02    The John Cardinal Krol Chair of Moral Theology Symposium on Catholic Health Care and Medical Moral Issues, Wynnewood, PA. Topic: “The Diagnosis and Treatment of Genetic Disorders”. 
 
03/08/02    Sarah Lawrence College.  Topic:  “Teratology”. (3 hrs)
 
02/24/02    The Ninth Annual Perinatal Ultrasound Symposium.  Topic:  "The Role of the Geneticist in the Prenatal Diagnosis and Management of Unusual Fetal Disorders".
 
08/02/01    American Association for Clinical Chemistry (AACC) Annual Meeting & Clinical LabExpo, Chicago, IL.  Topic: "Effects of Maternal Disease on the Fetus".
 
03/21/01    Certificate in Bioethics and Public Health Program of the UMDNJ-School of PublicHealth, sponsored by UMDNJ and Rutgers University.  Topic: "Ethical Issues in Genetics, Medicine and Pubic Health". (3 hr)
 
06/02/00     New Jersey Coalition for Prevention of Developmental Disabilities 14th Prevention Conference:  E-Z Pass to the Genetics Highway:  Exploring the Ethical, Legal, and Social Issues of the Human Genome Project, Princeton, NJ.  Topics:  1) Childhood Screening for Genetic Disorders", 2) "Adult Screening for Genetic Disorders".
 
02/29/00    American Conference Institute, Helmsley Hotel, New York.  Topic:  "Complex Medical Malpractice".
 
6/15-17/98   The Micropremie and Beyond Conference, Debrecen, Hungary, sponsored in part by Johnson & Johnson and Project Hope.  Topic:  “Congenital Anomalies”.
 
05/17-21/98  Suzhou Maternal Hospital, the Shanghai Institute for Pediatric Research, Shanghai Second Medical University, Xin Hua Hospital, the Shanghai First Maternity & Infant Health Hospital, and the Guangzhou Research Institute of Obstetrics and Gynecology and Guangzhou Number 2 People’s Hospital.  Topics:  "First Trimester Biochemical Screening for Aneuploidy", "Teratology", "Fetal Dysmorphology", "The Sonographic Diagnosis and Management of Unusual Genetic Syndromes".
 
03/15/98    Association of Professors of Human and Medical Genetics.  Topic:  "Success Stories in Teaching Clinical Genetics to 3rd and 4th Year Medical Students".


Janet Malcolmson's Publications

PRESENTATION:
September 2016:   
The needs and expectations of parents of children with rare conditions that are undergoing whole exome sequencing 
Poster Presentation at the National Society of Genetic Counselors - 35th Annual Education Conference, Seattle, WA

October 2015:
Sickle Cell: Exploring New Horizons Transitioning Young Adults
Presented “ABCs of Genetics” to an audience of young adults and healthcare providers - Hofstra University School of Medicine, Hempstead, NY

PUBLICATIONS:
Malcolmson, J., Kleyner, R., Tegay, D., Adams, W., Ward, K., Coppinger, J., ... & Lyon, G. J. (2016). SCN8A mutation in a child presenting with seizures and developmental delays. Molecular Case Studies, 2(6), a001073.

Kleyner, R., Malcolmson, J., Tegay, D., Ward, K., Maughan, A., Maughan, G., ... & Lyon, G. J. (2016). KBG syndrome involving a single-nucleotide duplication in ANKRD11. Molecular Case Studies, 2(6), a001131.

 

Erin W. Dekanek’s Publications

LECTURES:

“Application and Interview Tips for Genetic Counseling Programs”  - Rutgers Genetic Counseling Program Open House Nov. 12, 2016

POSTERS:
“Physician Knowledge and Attitudes Concerning Breast Cancer Genetics” – University of Pittsburgh: School of Public Health Dean’s Day April 2016

 

Kristin Levandoski’s Publications

Kristin Levandoski

PRESENTATIONS:
September 2016: Maternal sickle cell disease may increase risk for cell free DNA aneuploidy screening failure.
Poster Presentation at the National Society of Genetic Counselors– 35th Annual Education Conference, Seattle, WA.
 
March 2016: First report of a germline PTPN11 E76A mutation causative for severe prenatal Noonan syndrome phenotype.
Poster Presentation at the American College of Medical Genetics Annual Clinical Genetics Meeting, Tampa, FL.
 
July 2015: One clinic’s experience with discordant NIPT results for trisomies 18 and 13: Practical and psychosocial implications of non-invasive prenatal testing.
Poster Presentation at the International Society of Prenatal Diagnosis – 19th International Conference on Prenatal Diagnosis and Therapy, Washington, DC.
 
March 2015: One clinic’s experience with discordant NIPT results for trisomy 13: Continued practical implications of non-invasive prenatal testing.
Poster Presentation at the American College of Medical Genetics Annual Clinical Genetics Meeting, Salt Lake City, UT.
 
September 2014: A case of prenatal detection of duplication (21)(q22.13q22.2): Use of multiple testing methodologies to clarify apparently discordant results.
Poster Presentation at the National Society of Genetic Counselors - 33rd Annual Education Conference, New Orleans, LA.
 
March 2014: One clinic’s experience with discordant NIPT results for trisomy 18: Practical and psychosocial implications.
Poster Presentation at the American College of Medical Genetics Annual Clinical Genetics Meeting, Nashville, TN.
 
October 2013: Abnormal first trimester maternal serum screen results in a pregnancy with Smith-Lemli-Opitz syndrome.
Poster Presentation at the National Society of Genetic Counselors  - 32rd Annual Education Conference, Anaheim, CA.
 

 

Michele Horner’s Publications

Kristin Levandoski


Bhoj, Elizabeth J., Horner, M, Day-Salvatore, D, et al. “Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia.” American Journal of Human Genetics 98.4 (2016): 782–788. PMC.

Woolley E, Day-Salvatore D, Horner M, et al. Biochemical Diagnosis of a Mucolipidosis III by Urinary Screening of Lysosomal Storage Disorders. Abstract/Poster Presentation:  SIMD, 2011.
 

 

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