Usefulness of Children's Hospital of Philadelphia ROP (CHOP ROP) model in the prediction of type 1 ROP by Barkha Jain, Neha K Sethi, Amanpreet Sethi, Rhythm Arora, Twinkle Gupta, Harnoor Kaur

“…Purpose: Children's Hospital of Philadelphia retinopathy of prematurity (CHOP ROP) model can be used to predict ROP, a leading cause of childhood blindness, using risk factors such as postnatal weight gain, birth weight (BW), and gestation age (GA). …”
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Additive manufacturing (3d printing) in response to a pandemic: Lessons learned at the children's hospital of Philadelphia by Elizabeth Silvestro, Maria Camila Velez-Florez, Daria F. Ferro, Ethan Larsen, Asif Chinwalla, Raymond Sze, Flaura Winston

“…This paper reviews the pandemic response of Children's Hospital of Philadelphia CHAMP 3D Lab, a point-ofcare3D printing team that supports clinical and research projects across the hospital network. …”
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O27: Utility of cfDNA in comprehensive genomic profiling of complex vascular anomalies: Informing decision making in medical therapy by Dong Li, Sarah Sheppard, Michael March, Mark Battig, Lea Surrey, Abhay Srinivasan, Alexandra Borst, Fengxiang Wang, Tamjeed Sikder, Nora O’Connor, Alexandria Thomas, Erin Pinto, Allison Britt, Joseph Napoli, David Low, Seth Vatsky, James Treat, Janet Reid, Christopher Smith, Kristen Snyder, Anne Marie Cahill, Yoav Dori, Denise Adams, Hakon Hakonarson

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P783: Two fetuses with hereditary hemorrhagic telangiectasia presenting with rare finding of arteriovenous malformations by Natalie Burrill, Christina Paidas Teefey, Nankee Kumar, Sonika Agarwal, Lauren Beslow, Edward Oliver, Minh-Huy Le Huynh, Elizabeth Goldmuntz, Bryan Pukenas, Alexandra Borst, Allison Britt, Arastoo Vossough, Stephanie Fuller, Shih-Shan Lang Chen, Erica Schindewolf, Lisa Pilchman, Renee Wright, Haley Crane

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P249: Phenotypic findings associated with nested 22q11.2 deletions* by Daniel McGinn, Victoria Giunta, Bekah Wang, Lauren Lairson, Audrey Green, Daniela Olt, Elaine Zackai, Oanh Tran, Beverly Emanuel, Terrence Crowley, Donna McDonald-McGinn

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P588: Identification of NF1-associated tumor mutations in plasma cfDNA and its clinical application by Feng Xu, Ariel Long, Matthew Lueder, Kajia Cao, Weixuan Fu, Zhiqian Fan, Mateusz Koptyra, Jessica Foster, Thomas De Raedt, Chelsea Kotch, Michael Fisher, Marilyn Li

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P767: Genetics of prenatally diagnosed micro/anophthalmia by Natalie Burrill, Julie Moldenhauer, Erica Schindewolf, Renee Wright, Lisa Pilchman, Haley Crane, Edward Oliver, Nahla Khalek, Juliana Gebb, Christina Paidas Teefey, Shelly Soni

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P269: Essential role of genetic counseling in a multidisciplinary immune dysregulation program by Anna Platt, Hamid Bassiri, Edward Behrens, Scott Canna, Kandace Gollomp, Judith Kelsen, Michele Lambert, Whitney Petrosa, Neil Romberg, Alix Seif, Kathleen Sullivan, David Teachey

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P606: Two cases of prenatally diagnosed Cri-du-chat syndrome and associated MRI findings by Renee DiCicco, Natalie Burrill, Haley Crane, Nahla Khalek, Juliana Gebb, Sonika Agarwal, Matthew Whitehead, Deborah Zarnow, Edward Oliver, Ashley Bach, Julie Moldenhauer

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P248: Is 22q11.2 deletion syndrome truly less common in Black patients? by Donna McDonald-McGinn, Terrence Crowley, Daniel McGinn, Kimberly Gaiser, Victoria Giunta, Lauren Lairson, Elaine Zackai, Oanh Tran, Matt Share, Kathleen Valverde, Steven Pastor, Beverly Emanuel

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Genomic information of children with malignant brain tumors for the prediction of length of hospitalization by Yichuan Liu, Hui‐Qi Qu, Xiao Chang, Frank D Mentch, Haijun Qiu, Kenny Nguyen, Xiang Wang, Amir Hossein Saeidian, Deborah Watson, Joseph Glessner, Hakon Hakonarson

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P785: Milroy disease presenting as hydrops fetalis: A case series by Haley Crane, Julie Moldenhauer, Nahla Khalek, Juliana Gebb, Christina Paidas Teefey, Erica Schindewolf, Natalie Burrill, Lisa Pilchman, Renee Wright, Alexandra Borst, Michael Fox, Beverly Coleman, Shelly Soni

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Deciphering protective genomic factors of tumor development in pediatric Down syndrome via deep learning approach to whole genome and RNA sequencing by Yichuan Liu, Hui‐Qi Qu, Xiao Chang, Frank D Mentch, Haijun Qiu, Kenny Nguyen, Kayleigh Ostberg, Tiancheng Wang, Joseph Glessner, Hakon Hakonarson

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P830: Detection and quantification of multiple deletions in mitochondria and heteroplasmy levels using PacBio long read sequencing by Tanaya Jadhav, Avery Zucco, Matt Aruta, Matthew Dulik, Laura Conlin, Ramakrishnan Rajagopalan, Jing Wang

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P774: Diagnosis of Au Kline syndrome in a fetus with lower urinary tract obstruction: Case report and literature review by Natalie Burrill, Nahla Khalek, Desiree Fiorentino, Beverly Coleman, Erica Schindewolf, Lisa Pilchman, Renee Wright, Haley Crane

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P217: Abnormalities of TBX1 result in broad overlapping features of 22q11.2 deletion syndrome by Donna McDonald-McGinn, Victoria Giunta, T. Blaine Crowley, Daniel McGinn, Lydia Rockart, Audrey Green, Beverly Emanuel, Rosemarie Smith, Ellen Moran, Maciej Geremek, Elaine Zackai, Beata Nowakowska

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P621: Benchmarking phenotype-driven variant prioritization algorithms demonstrates low sensitivity for diagnosing rare Mendelian disorders in pediatric patients by Matt Aruta, Jard Knoblauch, Tanaya Jadhav, Emily Xiong, Yue Xing, Laura Conlin, Ramakrishnan Rajagopalan

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P773: Fetus with Cole-Carpenter type 2 presenting with novel neonatal lethal skeletal dysplasia by Natalie Burrill, Christina Paidas Teefey, Renee Wright, Minh-Huy Le Huynh, Erica Schindewolf, Lisa Pilchman, Haley Crane

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Tumor Necrosis Factor α Increases Neuronal Vulnerability to Excitotoxic Necrosis by Inducing Expression of the AMPA–Glutamate Receptor Subunit GluR1 via an Acid Sphingomyelinase- a... by ZaiFang Yu, Guanjun Cheng, Xiaoming Wen, Gary D. Wu, Wang-Tso Lee, David Pleasure

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P386: Agenesis of olfactory apparatus due to intragenic deletion of SIN3A and MAN2C1 resulting in Witteveen-Kolk syndrome by Sarah Donoghue, Cara Skraban, Jake Squicciarini, Jing Wang, Alyssa Rippert, Donna McDonald-McGinn, Elaine Zackai

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