Case Report: Two Distinct Focal Congenital Hyperinsulinism Lesions Resulting From Separate Genetic Events

by Elizabeth Rosenfeld, Elizabeth Rosenfeld, Lauren Mitteer, Lauren Mitteer, Kara Boodhansingh, Kara Boodhansingh, Susan A. Becker, Susan A. Becker, Heather McKnight, Heather McKnight, Linda Boyajian, Linda Boyajian, Amanda M. Ackermann, Amanda M. Ackermann, Amanda M. Ackermann, Jennifer M. Kalish, Jennifer M. Kalish, Jennifer M. Kalish, Tricia R. Bhatti, Tricia R. Bhatti, Lisa J. States, Lisa J. States, N. Scott Adzick, N. Scott Adzick, Katherine Lord, Katherine Lord, Katherine Lord, Diva D. De León, Diva D. De León, Diva D. De León
Published 2021-07-01

Generation of a human Juvenile myelomonocytic leukemia iPSC line, CHOPi001-A, with a mutation in CBL

by Alyssa L. Gagne, Jean Ann Maguire, Shilpa Gandre-Babbe, Stella T. Chou, Sarah K. Tasian, Mignon L. Loh, Mitchell J. Weiss, Paul Gadue, Deborah L. French
Published 2018-08-01

Generation of Spinocerebellar Ataxia Type 2 induced pluripotent stem cell lines, CHOPi002-A and CHOPi003-A, from patients with abnormal CAG repeats in the coding region of the ATXN...

by Jean Ann Maguire, Alyssa L. Gagne, Pedro Gonzalez-Alegre, Beverly L. Davidson, Vikram Shakkottai, Paul Gadue, Deborah L. French
Published 2019-01-01

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
Published 2002-10-01

Congenital diaphragmatic hernia and complete tracheal rings: Repair on ECMO

by Sasha J. Tharakan, Natalie E. Rintoul, Luv R. Javia, Christopher E. Mascio, James T. Connelly, Kha M. Tran, William H. Peranteau, Anne Ades, N. Scott Adzick, Holly L. Hedrick
Published 2015-12-01

A Review of Tertiary Referrals for Management of Pediatric Esophageal Eosinophilia

by Bridget Godwin, Bridget Godwin, Chris Liacouras, Vijay Mehta, Joshua Eisenberg, Atu Agawu, Terri Brown-Whitehorn, Terri Brown-Whitehorn, Melanie A. Ruffner, Melanie A. Ruffner, Ritu Verma, Ritu Verma, Antonella Cianferoni, Antonella Cianferoni, Jonathan M. Spergel, Jonathan M. Spergel, Amanda B. Muir, Amanda B. Muir
Published 2018-06-01

CAMKV Is a Candidate Immunotherapeutic Target in MYCN Amplified Neuroblastoma

by Robyn T. Sussman, Jo Lynne Rokita, Jo Lynne Rokita, Kevin Huang, Pichai Raman, Pichai Raman, Komal S. Rathi, Komal S. Rathi, Daniel Martinez, Kristopher R. Bosse, Kristopher R. Bosse, Maria Lane, Lori S. Hart, Tricia Bhatti, Bruce Pawel, John M. Maris, John M. Maris
Published 2020-03-01

Artemis 123: Development of a whole-head infant MEG system

by Timothy PL Roberts, Douglas N Paulson, Gene eHirschkoff, Kevin ePratt, Anthony eMascarenas, Paul eMiller, Mengali eHan, Jasom eCaffrey, Chuck eKincade, William ePower, Rebecca E Murray, Vivian eChow, Charles eFisk, Matthew eKu, Darina eChudnovskaya, John eDell, Rachel eGolembski, Peter eLam, Lisa eBlaskey, Emily eKuschner, Luke eBloy, William C. Gaetz, James Christopher eEdgar
Published 2014-03-01

GATA6 Plays an Important Role in the Induction of Human Definitive Endoderm, Development of the Pancreas, and Functionality of Pancreatic β Cells

by Amita Tiyaboonchai, Fabian L. Cardenas-Diaz, Lei Ying, Jean Ann Maguire, Xiuli Sim, Chintan Jobaliya, Alyssa L. Gagne, Siddharth Kishore, Diana E. Stanescu, Nkecha Hughes, Diva D. De Leon, Deborah L. French, Paul Gadue
Published 2017-03-01

Neonatal sepsis registry: Time to antibiotic dataset

by Svetlana Ostapenko, Melissa Schmatz, Lakshmi Srinivasan, Okan U. Elci, Scott L. Weiss, Aaron J. Masino, Marissa Tremoglie, Mary Catherine Harris, Robert W. Grundmeier
Published 2019-12-01

Effect of parental origin of damaging variants in pro-angiogenic genes on fetal growth in patients with congenital heart defects: Data and analyses

by Mark W. Russell, Julie S. Moldenhauer, Jack Rychik, Nancy B. Burnham, Erin Zullo, Samuel I. Parry, Rebecca A. Simmons, Michal A. Elovitz, Susan C. Nicolson, Rebecca L. Linn, Mark P. Johnson, Sunkyung Yu, Matthew G. Sampson, Hakon Hakonarson, J. William Gaynor
Published 2019-08-01

Heterogeneous GABAA receptor subunit expression in pediatric epilepsy patients

by Brenda E. Porter, Guojun Zhang, Juanita Celix, Fu-chun Hsu, YogendraSinh H. Raol, Albert Telfeian, Paul R. Gallagher, Douglas A. Coulter, Amy R. Brooks-Kayal
Published 2005-04-01

Generation of Hermansky–Pudlak Syndrome Type 1 (HPS1) induced pluripotent stem cells (iPSCs)

by Jean Ann Maguire, Lin Lu, Jason A. Mills, Lisa M. Sullivan, Alyssa Gagne, Paul Gadue, Deborah L. French
Published 2016-03-01

Postnatal Arx transcriptional activity regulates functional properties of PV interneurons

by Donald J. Joseph, Markus Von Deimling, Yuiko Hasegawa, Ana G. Cristancho, Rebecca C. Ahrens-Nicklas, Stephanie L. Rogers, Rashmi Risbud, Almedia J. McCoy, Eric D. Marsh
Published 2021-01-01

Heart Retransplant Recipients Have Better Survival With Concurrent Kidney Transplant Than With Heart Retransplant Alone

by Jill Savla, Kimberly Y. Lin, Madhura Pradhan, Rebecca L. Ruebner, Rachel S. Rogers, Somaly S. Haskins, Anjali T. Owens, Peter Abt, J. William Gaynor, Robert E. Shaddy, Joseph W. Rossano
Published 2015-12-01

Missing and delayed auditory responses in young and older children with autism spectrum disorders

by J. Christopher eEdgar, Matthew R Lanza, Aleksandra B Daina, Justin F Monroe, Sarah Y Khan, Lisa eBlaskey, Katelyn M Cannon, Julian eJenkins, Saba eQasmieh, Susan E Levy, Timothy eRoberts
Published 2014-06-01

Contrast enhanced genitosonography (CEGS) of urogenital sinus: A case of improved conspicuity with image inversion

by Nicolas Seranio, BS, Kassa Darge, MD, PhD, Douglas A. Canning, MD, Susan J. Back, MD
Published 2018-06-01

Cerebral Pulsed Arterial Spin Labeling Perfusion Weighted Imaging Predicts Language and Motor Outcomes in Neonatal Hypoxic-Ischemic Encephalopathy

by Qiang Zheng, Juan Sebastian Martin-Saavedra, Sandra Saade-Lemus, Arastoo Vossough, Arastoo Vossough, Giulio Zuccoli, Fabrício Guimarães Gonçalves, Colbey W. Freeman, Minhui Ouyang, Varun Singh, Michael A. Padula, Michael A. Padula, Sara B. Demauro, Sara B. Demauro, John Flibotte, John Flibotte, Eric C. Eichenwald, Eric C. Eichenwald, John A. Detre, Raymond Wang Sze, Raymond Wang Sze, Hao Huang, Hao Huang, Misun Hwang, Misun Hwang
Published 2020-09-01

Kaposiform lymphangiomatosis effectively treated with MEK inhibition

by Jessica B Foster, Dong Li, Michael E March, Sarah E Sheppard, Denise M Adams, Hakon Hakonarson, Yoav Dori
Published 2020-10-01

Maturation of Auditory Cortex Neural Activity in Children and Implications for Auditory Clinical Markers in Diagnosis

by J. Christopher Edgar, J. Christopher Edgar, Lisa Blaskey, Lisa Blaskey, Lisa Blaskey, Heather L. Green, Kimberly Konka, Guannan Shen, Marissa A. Dipiero, Jeffrey I. Berman, Jeffrey I. Berman, Luke Bloy, Song Liu, Emma McBride, Matt Ku, Emily S. Kuschner, Emily S. Kuschner, Emily S. Kuschner, Megan Airey, Mina Kim, Rose E. Franzen, Gregory A. Miller, Gregory A. Miller, Timothy P. L. Roberts, Timothy P. L. Roberts
Published 2020-11-01