Most Recent Additions*

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Educational review: role of the pediatric nephrologists in the work-up and management of kidney stones
Carmen Inés Rodriguez Cuellar, Peter Zhan Tao Wang, Michael Freundlich, and Guido Filler

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Growth hormone deficiency in megalencephaly-capillary malformation syndrome: An association with activating mutations in PIK3CA
Shanlee Davis, Meredith A Ware, Jordan Zeiger, Matthew A Deardorff, Katheryn Grand, Adda Grimberg, Stephanie Hsu, Megan Kelsey, Shideh Majidi, Revi P Matthew, Melanie Napier, Natalie Nokoff, Chitra Prasad, Andrew C Riggs, Margaret L McKinnon, and Ghayda Mirzaa

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New Horizons in the Genetic Etiology of Systemic Lupus Erythematosus and Lupus-Like Disease: Monogenic Lupus and Beyond
Erkan Demirkaya, Sezgin Sahin, Micol Romano, Qing Zhou, and Ivona Aksentijevich

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The Sclerosing Cholangitis Outcomes in Pediatrics (SCOPE) Index: A Prognostic Tool for Children
Mark R Deneau, Cara Mack, Emily R Perito, Amanda Ricciuto, Pamela L Valentino, Mansi Amin, Achiya Z Amir, Madeleine Aumar, Marcus Auth, Annemarie Broderick, Matthew DiGuglielmo, Laura G Draijer, Eleonora Druve Tavares Fagundes, Wael El-Matary, Federica Ferrari, Katryn N Furuya, Nitika Gupta, Jessica T Hochberg, Matjaz Homan, Simon Horslen, Raffaele Iorio, M Kyle Jensen, Maureen M Jonas, Binita M Kamath, Nanda Kerkar, Kyung Mo Kim, Kaija-Leena Kolho, Bart G P Koot, Trevor J Laborda, Christine K Lee, Kathleen M Loomes, Mercedes Martinez, Alexander Miethke, Tamir Miloh, Douglas Mogul, Saeed Mohammad, Parvathi Mohan, Stacy Moroz, Nadia Ovchinsky, Sirish Palle, Alexandra Papadopoulou, Girish Rao, Alexandre Rodrigues Ferreira, Pushpa Sathya, Kathleen B Schwarz, Uzma Shah, Eyal Shteyer, Ruchi Singh, Vratislav Smolka, Nisreen Soufi, Atsushi Tanaka, Raghu Varier, Bernadette Vitola, Marek Woynarowski, Melissa Zerofsky, Andréanne Zizzo, and Stephen L Guthery

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Phenotypic Variation in Paediatric Inflammatory Bowel Disease by Age: A Multicentre Prospective Inception Cohort Study of the Canadian Children IBD Network
J Dhaliwal, T D Walters, D R Mack, H Q Huynh, K Jacobson, A R Otley, J Debruyn, W El-Matary, C Deslandres, M E Sherlock, J N Critch, Kevin Bax, E Seidman, P Jantchou, A Ricciuto, M Rashid, A M Muise, E Wine, M Carroll, S Lawrence, J Van Limbergen, E I Benchimol, P Church, and A M Griffiths

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A novel homozygous variant in REN in a family presenting with classic features of disorders involving the renin-angiotensin pathway, without renal tubular dysgenesis
Allison A Dilliott, Jian Wang, Emma Brown, Gagandeep Singh, Michael J Shkrum, Madeleine Clin, Charles Anthony Rupar, Robert A Hegele, and Victoria Mok Siu

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A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome
Theodore G Drivas, Dong Li, Divya Nair, Joseph T Alaimo, Mariëlle Alders, Janine Altmüller, Tahsin Stefan Barakat, E Martina Bebin, Nicole L Bertsch, Patrick R Blackburn, Alyssa Blesson, Arjan M Bouman, Knut Brockmann, Perrine Brunelle, Margit Burmeister, Gregory M Cooper, Jonas Denecke, Anne Dieux-Coëslier, Holly Dubbs, Alejandro Ferrer, Danna Gal, Lauren E Bartik, Lauren B Gunderson, Linda Hasadsri, Mahim Jain, Catherine Karimov, Beth Keena, Eric W Klee, Katja Kloth, Baiba Lace, Marina Macchiaiolo, Julien L Marcadier, Jeff M Milunsky, Melanie P Napier, Xilma R Ortiz-Gonzalez, Pavel N Pichurin, Jason Pinner, Zoe Powis, Chitra Prasad, Francesca Clementina Radio, Kristen J Rasmussen, Deborah L Renaud, Eric T Rush, Carol Saunders, Duygu Selcen, Ann R Seman, Deepali N Shinde, Erica D Smith, Thomas Smol, Lot Snijders Blok, Joan M Stoler, Sha Tang, Marco Tartaglia, Michelle L Thompson, Jiddeke M van de Kamp, Jingmin Wang, Dagmar Weise, Karin Weiss, Rixa Woitschach, Bernd Wollnik, Huifang Yan, Elaine H Zackai, Giuseppe Zampino, Philippe Campeau, and Elizabeth Bhoj

*Updated as of 05/14/21.