Publications

Dr. Day-Salvatore's Publications

SELECTED PUBLICATIONS

• Xiangbin Jia, Shujie Zhang, Senwei Tan, Bing Du, Mei He, Haisong Qin, Jia Chen, Xinyu Duan, Jingsi Luo, Fei Chen, Luping Ouyang, Jian Wang, Guodong Chen, Bin Yu, Ge Zhang, Zimin Zhang, Yongqing Lyu, Yi Huang, Chuan Jiao, Jin Yun (Helen) Chen, Kathryn J. Swoboda, Emanuele Agolini, Antonio Novelli, Chiara Leoni, Giuseppe Zampino, Gerarda Cappuccio1, Nicola Brunetti‐Pierri1, Benedicte Gerard, Emmanuelle Ginglinger, Julie Richer, Hugh McMillan, Alexandre White-Brown, Kendra Hoekzema, Raphael A. Bernier, Evangeline C. Kurtz-Nelson, Rachel K. Earl, Claartje Meddens, Marielle Alders, Meredith Fuchs, Roseline Caumes, Perrine Brunelle, Thomas Smol, Ryan Kuehl, Debra-Lynn Day-Salvatore, Kristin G. Monaghan, Michelle Morrow, Evan E. Eichler, Zhengmao Hu, Ling Yuan, Jieqiong Tan, Kun Xia, Yiping Shen, Hui Guo. “De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders”. Science Advances Epub 2022 Aug17.
• Jose Abdenur, Kees Schoonderwoerd, Jessica Myers, Dimitar Gavrilov, Maija Steenari, Debra-Lynn Day-Salvatore, Mary Sowa, Debra Regier, Haley Lynn, Danie Starin, Cristel Chapel-Crespo. “Clinical, biochemical and molecular characteristics of malonyl-CoA decarboxylase deficiency and long-term follow-up of nine patients”. Mol Genet Metab July 29, 2019. EPub.
• Elena-Raluca Nicoli, Mary Weston, Mary Hackbarth, Alissa Becerril, Austin Larson, Wadih M. Zein, Peter R. Baker II, John Douglas Burke, Heidi Dorward, Mariska Davids, Yan Huang, David R. Adams, Patricia M. Zerfas, Dong Chen, Thomas C. Markello, Camilo Toro, Tim Wood, Gene Elliott, Mylinh Vu, Undiagnosed Disease Network, Wei Zheng, Lisa Garrett, Cynthia J. Tifft, William A. Gahl, Debra L. Day-Salvatore, Joseph A. Mindell, May Christine V. Malicdan. “Lysosomal storage and albinism due to effects of a de novo CLCN7 variant on lysosomal acidification”. Am J Hum Genet. 2019 Jun6; 104(6):1127-1138.
• Belal T, Day-Salvatore D, Malcolmson, J. “Microcephaly, Skeletal Dysplasia, and Immunodeficiency in a Newborn”. Pediatrics in Review Index of Suspicion, July 2018.
• Belal T, Day-Salvatore D, Chandra S. “Seizures and Low CSF Glucose in a 4-Day-Old”. Pediatrics in Review Index of Suspicion, May 2018.
• Elsea, Day-Salvatore. “Biochemical Phenotyping Unravels Novel Metabolic Abnormalities and Potnetial Biomarkers Associated with Treatment of GLUT1 Deficiency with Ketogenic Diet”. PLOS ONE 2017.
• The Pompe Disease Newborn Screening Working Group. “Introduction to the Newborn Screening, Diagnosis, and Treatment for Pompe Disease Guidance Supplement”. Pediatrics July 2017 Supplement.
• 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.
• 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.
• 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.
• 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.
• 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.
• 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.
• 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.
• 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
• 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.
• 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.
• Pellegrino JE, Engel JM, Chavez D, Day-Salvatore D. Oculo-Palatal-Cerebral Syndrome: A Second Case. Am J Med Genet 2001; 99:200-203.
• 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.
• 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.
• 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.
• 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.
• Day-Salvatore D, Guzman E, Weinberger B, Shen-Schwartz S, Houlihan C. Genetics Casebook: Amniotic band syndrome. J Perinatology 1995;1:74-77.
• 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.
• Day-Salvatore D, Guzman E, Farren-Chavez D, Sciorra L, Knuppel R. Genetics Casebook: Duplication-deletion syndromes. J Perinatology 1995;15(4):333-337.
• 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.
• 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

• 06/09/22 14th Annual Philadelphia Prenatal Diagnosis, Ultrasound, Obstetrics, and MFM Conference (virtual - international): “Facial Clues to Genetic Syndromes”.
• 04/19/22 National Society of Genetic Counselors (NSGC) Podcast Series: “Newborn Screening and Krabbe Disease”.
• 03/24/22 Rutgers Genetic Counseling Master’s Program Foundations of Genetic Counseling II - Reproductive Genetics Course: “Teratogenesis” (3 hours). Piscataway, NJ
• 09/09/21 CureGM1 International Virtual Conference: “Gene Therapy Update”.
• 07/23/21 Rutgers RWJMS OB/GYN Grand Rounds: “Management of Maternal Genetic Conditions during Pregnancy”. New Brunswick, NJ.
• 06/10/21 13th Annual Philadelphia Prenatal Diagnosis, Ultrasound, Obstetrics, and MFM Conference (virtual - international): “Genetic Syndromes Associated with Congenital Ear Malformations”.
• 03/25/21 Rutgers Genetic Counseling Master’s Program Foundations of Genetic Counseling II - Reproductive Genetics Course: “Teratogenesis” (3 hours). Piscataway, NJ.
• 10/01/20 Pediatric Grand Rounds (virtual): “Newborn Screening Updates”. Saint Peter’s University Hospital, New Brunswick, NJ.
• 06/04/20 12th Annual Philadelphia Prenatal Diagnosis, Ultrasound, Obstetrics, and MFM Conference (virtual - international): “The Geneticist’s Approach to Syndrome Diagnosis”; “Genetic Syndromes with Normal Fetal Ultrasounds – What Are We Missing?”; “Brain Malformations and Genetic Syndromes”.
• 03/12/20 Rutgers Genetic Counseling Master’s Program Foundations of Genetic Counseling II - Reproductive Genetics Course (virtual): “Teratogenesis” (3 hours). Piscataway, NJ.
• 10/02/19 Rutgers Genetic Counseling Master’s Program Foundations of Medical Genetics I: “Lysosomal Storage Disorders” (2½ hours). New Brunswick, NJ.
• 06/28/19 Project 8P Scientific and Family Conference: “Meet the Specialists – Breakout Sessions”. New York-Presbyterian Hospital, New York, NY.
• 04/27/19 Pediatric Academic Societies National Meeting Satellite Symposium: “Newborn Screening for Fabry Disease: What the Neonatologist Needs to Know”. Hilton Baltimore, Baltimore, MD.
• 03/14/19 Rutgers Genetic Counseling Master’s Program Foundations of Genetic Counseling II - Reproductive Genetics Course: “Teratogenesis” (3 hours). Piscataway, NJ.
• 02/26/19 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". Towson, Maryland.
• 11/16/18 Rutgers Robert Wood John Medical School, Obstetrics & Gynecology Grand Rounds: “Teratogens: Essential Knowledge for the Ob/Gyn Provider”. New Brunswick, NJ.
• 11/04/18 American Academy of Pediatrics National Meeting Satellite Symposium: “Newborn Screening for Rare Disorders: Focusing on Pompe Disease and Gaucher Disease”. Hyatt Regency Orlando, Orlando, FL.
• 10/28/18 National Gaucher Foundation Inaugural Physician’s Symposium: “Implementation of Newborn Screening for Gaucher Disease in New Jersey”. The Mezzanine, New York City, NY.
• 10/10/18 Rutgers Genetic Counseling Master’s Program Foundations of Medical Genetics I: “Lysosomal Storage Disorders” (3 hours). New Brunswick, NJ.
• 06/08/18 10th Annual Philadelphia Prenatal Diagnosis, Ultrasound, Obstetrics, and MFM Conference: “Management of Maternal Inborn Errors of Metabolism”. Hilton Philadelphia City Avenue, Philadelphia, PA.
• 06/07/18 10th Annual Philadelphia Prenatal Diagnosis, Ultrasound, Obstetrics, and MFM Conference: “Approach to the Genetic Evaluation of Epilepsy”. Hilton Philadelphia City Avenue, Philadelphia, PA.
• 05/23/18 Women’s Symposium: Updates in Breast Cancer Diagnosis & Treatment” “Evolving Role of Genetic Counseling and Testing in Breast and GYN Cancers”. Edison, NJ.
• 05/09/18 New Disorder Newborn Screening Project Funded by the Division of Family Health Services, NJDOH Awarded by the Association of Public Health Laboratories Through a Cooperative Agreement from HRSA-DHHS: “Mucopolysaccharidosis I”; “Mucopolysaccharidosis II”; and “Gaucher Disease Types 1-3 and Other Subtypes”. New Brunswick, NJ.
• 04/11/18 Rutgers Genetic Counseling Master’s Program Foundations of Genetic Counseling II - Reproductive Genetics Course: “Teratogenesis” (3 hours). New Brunswick, NJ.
• 03/02/18 New Disorder Newborn Screening Project Funded by the Division of Family Health Services, NJDOH Awarded by the Association of Public Health Laboratories Through a Cooperative Agreement from HRSA-DHHS: “Mucopolysaccharidosis I”; “Mucopolysaccharidosis II”; and “Gaucher Disease Types 1-3 and Other Subtypes”. New Brunswick, NJ.
• 02/28/18 SPUH Rare Disease Day: “Overview of Rare Diseases and Orphan Drugs”. New Brunswick, NJ.
• 01/10/18 SPUH Family Medicine Grand Rounds: “Genetic Testing in the Adult Outpatient Setting – Teasing Apart Complex Presentations”. New Brunswick, NJ.
• 08/23/17 Icahn School of Medicine at Mount Sinai. “Genetic Evaluation and Counseling for the IUGR Fetus”. New York City, NY.
• 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".

Francesca Spinosi's Publications

SELECTED PUBLICATIONS

• Trends in coverage and reimbursement for reproductive genetic counseling in New Jersey by multiple payers from 2010 to 2018 - PubMed (nih.gov) published July 2021.

Kristin Hengerer's Publications

PRESENTATIONS

• May 2021: SPUH Pediatric Resident Research Day J. Johnikitty, K. Levandoski, D-L. Day-Salvatore, N. Prakash. Combined Oxidative Phosphorylation Deficiency 5: A Rare Disease Case Report.
• April 2021: ACMG Poster Presentation K. Levandoski, M. Sigdel, C. Benito, D-L. Day-Salvatore. A Case of Combined Oxidative Phosphorylation Deficiency 5 with Prenatal Onset.
• October 2019: Invited Speaker BioNJ’s Patient Advocacy Summit. Educate: How the Landscape is Changing – New innovative Treatments.
• 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.