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Erica Schindewolf, MS, LCGC
About Erica Schindewolf
Erica Schindewolf, MS, LCGC, is a senior genetic counselor and specialist working in the Undiagnosed Disease Program at the Children's Hospital of Philadelphia (CHOP).
Genetic counselors are master's trained board-certified clinicians who specifically practice in genetics and psychosocial counseling. Erica serves within this multidisciplinary team to help families navigate their genetic testing journey, aid in interpretation of test results, and communicate this information to the family in a way that feels meaningful and manageable for each individual.
“To me, genetics is the most interesting field in the world,” says Schindewolf. “It touches all aspects of medicine and basic science and reminds us that we are all connected by this incredibly complicated set of instructions that we still have so much to learn about. I feel the greatest impact that I can have in this field is helping families make sense of this information as it pertains to their unique situation.”
Schindewolf’s favorite part of her role is empowering others. “I feel very fortunate to work with each of our families as they navigate an unknown diagnosis. It is truly the honor of my life to help them understand their child’s diagnosis and genetic testing options,” she adds.
Genetic testing can feel overwhelming. Schindewolf wants families to know they have a team of people behind them to answer any and all questions, whenever they come up. She encourages patient families to lean on the team of experts caring for them at every stage of the process.
In addition to her role in the UDP, Schindewolf also serves as genetic counselor discipline director for CHOP’s Leadership in Neurodevelopmental and Related Disorders (LEND) Fellowship, and course director of the Reproductive and Developmental Genetics course at the Perelman School of Medicine at the University of Pennsylvania.
Titles
Senior Genetic Counselor Specialist
Certifications
Licensed Certified Genetic Counselor (LCGC)
Awards and Honors
2018, Arcadia University Alumni Association 40 under 40 Award
2018-present, Scientist in Residence Grant Recipient Hatboro Horsham Education Foundation
2018, Invited Code Talker Nomination and Publication
2014, Tracy M. Gardner Excellence in Counseling Award
Beta Beta Beta National Biology Honors Society
Psi Chi National Honor Society in Psychology
Dean’s List; Distinguished Honors in Psychology
Graduated Cum Laude
Leadership and Memberships
Memberships in Professional Organizations
2014-present, National Society of Genetic Counselors
- 2018-present, Webinar Subcommittee Chair
Education & training
Undergraduate Degree
BS in Biology and Psychology - Ursinus College, Collegeville, PA
Graduate Degree
MS in Genetic Counseling - Arcadia University, Glenside, PA
Publications
Publications
2023
Shukla DP, Cutshall JO, van der Heijden L, Schindewolf E, Sheppard SE. The importance of patient-specific resources for families dealing with prenatal rare diseases. Am J Med Genet A. 2023 Oct 20. doi: 10.1002/ajmg.a.63450. Epub ahead of print. PMID: 37861066.
Freud LR, Galloway S, Crowley TB, Moldenhauer J, Swillen A, Breckpot J, Borrell A, Vora NL, Cuneo B, Hoffman H, Gilbert L, Nowakowska B, Geremek M, Kutkowska-Kaźmierczak A, Vermeesch JR, Devriendt K, Busa T, Sigaudy S, Vigneswaran T, Simpson JM, Dungan J, Gotteiner N, Gloning KP, Digilio MC, Unolt M, Putotto C, Marino B, Repetto G, Fadic M, Garcia-Minaur S, Achón Buil A, Thomas MA, Fruitman D, Beecroft T, Hui PW, Oskarsdottir S, Bradshaw R, Criebaum A, Norton ME, Lee T, Geiger M, Dunnington L, Isaac J, Wilkins-Haug L, Hunter L, Izzi C, Toscano M, Ghi T, McGlynn J, Romana Grati F, Emanuel BS, Gaiser K, Gaynor JW, Goldmuntz E, McGinn DE, Schindewolf E, Tran O, Zackai EH, Yan Q, Bassett AS, Wapner R, McDonald-McGinn DM. Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age. Am J Obstet Gynecol. 2023 Sep 16:S0002-9378(23)00611-7. doi: 10.1016/j.ajog.2023.09.005. Epub ahead of print. PMID: 37717890.
Sheppard SE, March ME, Seiler C, Matsuoka LS, Kim SE, Kao C, Rubin AI, Battig MR, Khalek N, Schindewolf E, O'Connor N, Pinto E, Priestley JR, Sanders VR, Niazi R, Ganguly A, Hou C, Slater D, Frieden IJ, Huynh T, Shieh JT, Krantz ID, Guerrero JC, Surrey LF, Biko DM, Laje P, Castelo-Soccio L, Nakano TA, Snyder K, Smith CL, Li D, Dori Y, Hakonarson H. Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition. JCI Insight. 2023 May 8;8(9):e155888. doi: 10.1172/jci.insight.155888. PMID: 37154160; PMCID: PMC10243805.
Óskarsdóttir S, Boot E, Crowley TB, Loo JCY, Arganbright JM, Armando M, Baylis AL, Breetvelt EJ, Castelein RM, Chadehumbe M, Cielo CM, de Reuver S, Eliez S, Fiksinski AM, Forbes BJ, Gallagher E, Hopkins SE, Jackson OA, Levitz-Katz L, Klingberg G, Lambert MP, Marino B, Mascarenhas MR, Moldenhauer J, Moss EM, Nowakowska BA, Orchanian-Cheff A, Putotto C, Repetto GM, Schindewolf E, Schneider M, Solot CB, Sullivan KE, Swillen A, Unolt M, Van Batavia JP, Vingerhoets C, Vorstman J, Bassett AS, McDonald-McGinn DM. Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome. Genet Med. 2023 Mar;25(3):100338. doi: 10.1016/j.gim.2022.11.006. Epub 2023 Feb 2. PMID: 36729053.
Blagowidow N, Nowakowska B, Schindewolf E, Grati FR, Putotto C, Breckpot J, Swillen A, Crowley TB, Loo JCY, Lairson LA, Óskarsdóttir S, Boot E, Garcia-Minaur S, Cristina Digilio M, Marino B, Coleman B, Moldenhauer JS, Bassett AS, McDonald-McGinn DM. Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions. Genes (Basel). 2023 Jan 6;14(1):160. doi: 10.3390/genes14010160. PMID: 36672900; PMCID: PMC9858737.
Matalon DR, Bhoj EJ, Li D, McDougall C, Schindewolf E, Khalek N, Wilkens A, McManus M, Deardorff MA, Zackai EH. Genomic sequencing in a cohort of individuals with fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome. Am J Med Genet A. 2023 Apr;191(4):977-982. doi: 10.1002/ajmg.a.63105. Epub 2023 Jan 6. PMID: 36610046.
Schwab ME, Lianoglou BR, Gano D, Gonzalez Velez J, Allen IE, Arvon R, Baschat A, Bianchi DW, Bitanga M, Bourguignon A, Brown RN, Chen B, Chien M, Davis-Nelson S, de Laat MWM, Ekwattanakit S, Gollin Y, Hirata G, Jelin A, Jolley J, Meyer P, Miller J, Norton ME, Ogasawara KK, Panchalee T, Schindewolf E, Shaw SW, Stumbaugh T, Thompson AA, Towner D, Tsai PS, Viprakasit V, Volanakis E, Zhang L, Vichinsky E, MacKenzie TC. The impact of in utero transfusions on perinatal outcomes in patients with alpha thalassemia major: the UCSF registry. Blood Adv. 2023 Jan 24;7(2):269-279. doi: 10.1182/bloodadvances.2022007823. PMID: 36306387; PMCID: PMC9860434.
2022
Ron HA, Crowley TB, Liu Y, Unolt M, Schindewolf E, Moldenhauer J, Rychik J, Goldmuntz E, Emanuel BS, Ryba D, Gaynor JW, Zackai EH, Hakonarson H, McDonald-McGinn DM. Improved Outcomes in Patients with 22q11.2 Deletion Syndrome and Diagnosis of Interrupted Aortic Arch Prior to Birth Hospital Discharge, a Retrospective Study. Genes (Basel). 2022 Dec 24;14(1):62. doi: 10.3390/genes14010062. PMID: 36672801; PMCID: PMC9859187
Wild KT, Schindewolf E, Hedrick HL, Rintoul NE, Hartman T, Gebb J, Moldenhauer JS, Zackai EH, Krantz ID. The Genomics of Congenital Diaphragmatic Hernia: A 10-Year Retrospective Review. J Pediatr. 2022 Sep;248:108-113.e2. doi: 10.1016/j.jpeds.2022.04.012. Epub 2022 Apr 14. PMID: 35430246.
2021
Mueller R, Schindewolf E, Williams S, Jay Kessler L. 'Steep learning curves' to 'Smooth Sailing': A reappraisal of telegenetics amidst the COVID-19 pandemic. J Genet Couns. 2021 Aug;30(4):1010-1023. doi: 10.1002/jgc4.1487. Epub 2021 Aug 6. PMID: 34355459; PMCID: PMC8426875.
2020
Dou Y, Schindewolf E, Crowley TB, McGinn DM, Moldenhauer JS, Coleman B, Oliver ER, Sullivan KE. The Association of Fetal Thymus Size with Subsequent T Cell Counts in 22q11.2 Deletion Syndrome. J Clin Immunol. 2020 Jul;40(5):783-785. doi: 10.1007/s10875-020-00807-5. Epub 2020 Jun 25. PMID: 32583204.
The Association of Fetal Thymus Size With Subsequent T Cell Counts in 22q11.2 Deletion Syndrome. Dou Y, Schindewolf E, Crowley TB, McGinn DM, Moldenhauer JS, Coleman BG, Oliver ER, Sullivan KE. J Clinical Immunol. 2020 Jun 25. doi: 10.1007/s10875-020-00807-5. Online ahead of print.
Schindewolf E., Moldenhauer JS., (2020). Genetic counseling for fetal gastrointestinal anomalies. Curr Opin Obstet Gynecol. 2020 Apr;32(2):134-139. doi: 10.1097/GCO.0000000000000613. PMID:32039977
Pritchard AB, Grand K, Hopkins M., Schindewolf E., Dugoff L, Bjoh, E. (2020). What not to expect when you’re expecting: Unusual cases of placental mosaicism detected on non-invasive prenatal screening. Eur J Med Genet. 2020 Feb 18:103895. doi: 10.1016/j.ejmg.2020.103895.
Sheppard SE, Smith A, Grand K, Pogoriler J, Rubin AI, Schindewolf E, Fitzgerald MP, Moldenhauer J, Laje P, Peranteau W, Bhoj E, McMahon P, Castelo-Soccio L.(2020). Further delineation of the phenotypic spectrum of nevus comedonicus syndrome to include congenital pulmonary airway malformation of the lung and aneurysm. Am J Med Genet A. 2020 Jan 21. doi: 10.1002/ajmg.a.61490. PMID:31961058
2019
Lalonde, E., Ebrahimzadeh, J., Rafferty, K., Richards-Yutz, J., Grant, R, Toorens, E., Rosado,J., Schindewolf E., et al (2019). Molecular diagnosis of somatic overgrowth conditions: A single-center experience. Molecular Genetics and Genomic medicine https;//doi.org.10.1002.mgg3.536
Danzer, E., Hoffman, C., Miller J., Agostino J, Schindewolf E., et al, Autism spectrum disorder and neurodevelopmental delays in children with giant omphalocele”. Journal of Pediatric Surgery; 2019.
Cabet S, Putoux A, Buenerd A, Gueneau L, Reymond A, Thia EWH, Lai AHM, Schindewolf EM, Sanlaville D, Lesca G, Guibaud L. (2020). Prenatal cerebral imaging features a new syndromic entity related to KIAA1109 pathogenic variants mimicking tubulinopathy. Prenat Diagn. 2020 Jan;40(2):276-281. doi: 10.1002/pd.5589. Epub 2019 Dec 5. PMID:31736083
Lalonde E, Ebrahimzadeh J, Rafferty K, Richards-Yutz J, Grant R, Toorens E, Marie Rosado J, Schindewolf E, Ganguly T, Kalish JM, Deardorff MA, Ganguly A. Molecular diagnosis of somatic overgrowth conditions: A single-center experience. Mol Genet Genomic Med. 2019 Feb 13. doi: 10.1002/mgg3.536. [Epub ahead of print]
2018
Campbell IM, Sheppard SE, Crowley TB, McGinn DE, Bailey A, McGinn MJ, Unolt M, Homans JF, Chen EY, Salmons HI, Gaynor JW, Goldmuntz E, Jackson OA2, Katz LE, Mascarenhas MR, Deeney VFX, Castelein RM, Zur KB, Elden L, Kallish S, Kolon TF, Hopkins SE, Chadehumbe MA, Lambert MP, Forbes BJ, Moldenhauer JS, Schindewolf EM1, Solot CB, Moss EM, Gur RE, Sullivan KE, Emanuel BS, Zackai EH, McDonald-McGinn DM. What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia. Am J Med Genet A. 2018 Oct;176(10):2058-2069. doi: 10.1002/ajmg.a.40637.
Schindewolf E, Khalek N, Johnson MP, Gebb J, Coleman B, Crowley TB, Zackai EH, McDonald-McGinn DM, Moldenhauer JS. Expanding the fetal phenotype: Prenatal sonographic findings and perinatal outcomes in a cohort of patients with a confirmed 22q11.2 deletion syndrome. Am J Med Genet A. 2018 Jul 28. doi: 10.1002/ajmg.a.38665. [Epub ahead of print]
2015
Schindewolf, E.M., Conway L., Chadwick S.L. (2015). “Who is the deciding factor?” Analysis of parental perspectives regarding discontinuation of elaprase in children with MPS II. Molecular Genetics and Metabolism, 114, S104.
2012
Principe GF, Cherson M, DiPuppo J, Schindewolf E. Children's natural conversations following exposure to a rumor: linkages to later false reports.
J Exp Child Psychol. 2012 Nov;113(3):383-400.
Principe GF, Schindewolf E. Natural Conversations as a Source of False Memories in Children: Implications for the Testimony of Young Witnesses. Dev Rev. 2012 Sep;32(3):205-223.
Porcelan J, Schindewolf E, Storey K, King K, Hart K, Kohn, R. The effect of Vitamin E on the survival rate of unc-13 caenorhabditis elegans mutants under oxidative stress. Impulse: The Premier Journal for Undergraduate Publications in the Neurosciences, 2012, 1-8.
Abstracts (includes Posters and Scientific Presentations)
2023
Gaiser K., Schindewolf E., Debari, S., Coleman, B., McDonald-MCGinn, D., Moldenhauer, J., Gebb, J., Enlarged cavum septum pellucidum and small thymus as markers for 22q11.2 deletion syndrome. Poster Presentation at SMFM 2023, February 6-11, 2023: San Francisco, California.
Duemler, A., Schindewolf E., Cohen, S., Cristancho A. Its time to listen to the families; a disease concept model for Gould Syndrome, ACMG 23.
Natalie Burrill, MS, LCGC, Erica Schindewolf, MS, LCGC, Lisa Pilchman, MS, LCGC, Renee Dicicco, MS, LCGC, Juliana Gebb, MD, Shelly Soni, MD, Christina Paidas Teefey, MD, Nahla Khalek, MD, MPH, FACOG, Edward R. Oliver, MD, PhD, Rebecca Linn, MD, Julie Moldenhauer, MD. Whole Exome Sequencing in an Enriched Population of Fetuses with Structural Anomalies. Poster Presentation at SMFM 2023, February 6-11, 2023: San Francisco, California.
Schindewolf, E., Cristanco A., Moldenhauer J., Novel Prenatal Phenotypic of Biallelic mutations in SLC5A6; expanding the phenotypic spectrum. American College of Medical Genetics Meeting, Poster Presentation March 2023.
Pilchman, L, Coleman, B., Fisher, A, Combs, N Kaufman, K, Schindewolf, E., Moldenhauer J, Prenatal diagnosis of RNU4ATAC-Related Disorder Detected by Whole Genome Sequencing not seen on Exome. American College of Medical Genetics Meeting, Poster Presentation, March 2023.
DiCicco, R., Burrill N., Crane, H., Khalek, N. Schindewolf, E., Agarwal, S, Whitehead, M., Zarrow, D., Oliver, E., Bach, A., Moldenhauer, J., Two cases of prenatally diagnosed Cri-du- Chat Syndrome and Associated MRI Findings. Poster Presentation American College of Medical Genetics Meeting, March 2023.
Woodis, K., Bowling, A., Schindewolf, E., Sheppard, S. Complex Lymphatic Anomalies: Design of a Prospective Natural History Study. Poster Presentation American College of Medical Genetics Meeting March 2023.
Bowling, A., Woodis, K., Schindewolf, E., Sheppard, S., Development of a Maternal-Fetal Questionnaire to Aid in the improvement of prenatal care for lymphatic anomalies. Poster Presentation, American College of Medical Genetics Meeting, March 2023.
Roni Zemet, Mohamad Ali Maktabi, Alexandra Tinfow, Jessica L. Giordano, Thomas M. Heisler, Qi Yan, Roni Plaschkes, Michal Berkenstadt, Boaz Weisz, David A Crosby, Jennifer M Walsh, Siobhán Corcoran, Juliana Gebb, Erica Schindewolf, Kendra Miller, Kate Swanson, Teresa N Sparks, Asha N. Talati, Neeta L. Vora, Ronald J. Wapner, Ignatia B. Van den Veyver. Diagnostic yield of amniocentesis in pregnancies ≥24 weeks: An international multicenter study. Platform Presentation at ACMG 2023, March 14-18, 2023: Salt Lake City, Utah.
2022
Kasatkin, N., Schindewolf, E., Ritter, A., Conway, L., Woyciechowski, S., Goldmuntz, E., Moldenhauer, J., Zackai, E, Ahrens-Niklas, R., Diagnostic Utility of Genetic Testing Prenatally vs Postnatally in Infants with Congenital Heart Defects. Poster at the National Society of Genetic Counseling Conference November 2022.
2021
Schindewolf E., Soni, S., Coleman, B., Moldenhauer J. Recurrent pregnancies affected with STRA6 mutations consistent with a diagnosis of Matthew Wood Syndrome. Poster at the International Society of Prenatal Diagnosis; June 6-9 2021; Virtual Meeting.
Schindewolf E., Burrill N., Krahling S., Pilchman, L., Linn, R., Khalek N., Gebb, J., Paidas Teefey, C., Soni, S., Moldenhauer J., Clinical utility of postmortem whole exome sequencing in fetal cases of multiple congenital anomalies. Poster at the International Society of Prenatal Diagnosis; June 6-9 2021; Virtual Meeting.
2020
Burrill, N, Johnson, MP, Soni, S, Gebb, J, Khalek, N, Paidas Teefey, C, Schindewolf, E, Moldenhauer, E. Challenges in Prenatal Counseling of Congenital Adrenal Hyperplasia.. Poster at American College of Medical Genetics Annual Virtual Conference, April 2020.
Lectures by Invitation
2023
Duemler, A., Schindewolf E., Cohen, S., Cristancho A., Its time to listen to the families; a disease concept model for Gould Syndrome. Pennsylvania Association of Genetic Counseling Conference, May 2023.
Gaiser K., Schindewolf E., Debari, S., Coleman, B., McDonald-MCGinn, D., Moldenhauer, J., Gebb, J., Enlarged cavum septum pellucidum and small thymus as markers for 22q11.2 deletion syndrome. Pennsylvania Association of Genetic Counseling Conference, May 2023.
Schindewolf, E. Eyes, Ears, Mouth and Nose- Facial Dysmorphology on Prenatal Ultrasound. The Philadelphia Prenatal Conference Invited speaker, June 2023.
Schindewolf, E. Genetic counseling approach for fetal GI Malformations. The Philadelphia Prenatal Conference, Invited speaker, June 2023.
Schindewolf, E. Congenital Heart Defects and genetic etiology. The Philadelphia Prenatal Conference, Invited speaker, June 2023.
Schindewolf, E., Moldenhauer, JS., Wu, S., Medical Management of Hydrops Fetalis. International Gynecology and Obstetrics Conference. March 2023, Presented virtually, conference held at Etihad Towers, Abu Dhabi, UA.
Schindewolf, E. Whole Genome Sequencing Considerations in the Fetal population. Pennsylvania Association of Genetic Counselor, Invited speaker, May 2023.
Schindewolf, E. Whole Genome Sequencing Considerations in the Fetal population. Pennsylvania Association of Genetic Counselor, Invited speaker, May 2023.
Schindewolf, E. 22q11.2 Prenatal Diagnosis and Evaluation. Presented to the HUP MFM Fellows. June 2023.
Schindewolf, E, Porcani, G., COL4A1 and COL4A2 disorders: The CHOP experience. Presented at CHOP grand rounds, June 2023.
Schindewolf, E. Genetics and Fetal Intervention; Women in STEM. Presented to the Devon Prep students March 29th, 2023.
Schindewolf, E and Entin, D. Parental decision making and supporting options. Presented at the CHEMED conference March 2023.
2022
Schindewolf, E., Wu, S., Moldenhauer, J. Hydrops Fetalis Fetal Fireside. Presented virtually for the Fetal Fireside CME Lecture series, November 2, 2022.
Schindewolf, E., Celebrating CHOP Genetic Counselor senior genetic counselor panel speaker. Presented to CHOP and Upenn Genetic community September 29, 2022.
2020
Ventriculomegaly and genetic etiology Burrill N, Cristancho A, Dubbs H, Gebb J, Moldenhauer J, Pilchman, L, Schindewolf E [Lecture] Genetics Grand Rounds, Childrens Hospital of Philadelphia; 2020, July; Philadelphia Pennsylvania.
A common referral with complex etiologies; Ventriculomegaly, Burrill N, Cristancho A, Dubbs H, Gebb J, Moldenhauer J, Pilchman, L, Schindewolf E [Lecture] Genetics Grand Rounds, Childrens Hospital of Philadelphia; 2020, April; Philadelphia Pennsylvania.
Editorials, Reviews, Chapters
2022
Erica M. Schindewolf and Julie S. Moldenhauer. Chapter 21. “Reproduction, prenatal screening, and diagnosis in 22q11.2 deletion syndrome” in McDonald-McGinn DM (2022). The Chromosome 22q11.2 Deletion Syndrome. A Multidisciplinary Approach to Diagnosis and Treatment. Elsevier, Academic Press. London, UK.
Schindewolf, E., Moldenhauer, J.S. (2022). Prenatal Diagnosis and Genetic Counseling. In: Mattei, P. (eds) Fundamentals of Pediatric Surgery. Springer, Cham. https://doi.org/10.1007/978-3-031-07524-7_2