About the Authors

Jenny Shin

Contributed equally to this work with: Jenny Shin, Katrina Epperson

Affiliation Center for Rare and Neglected Diseases, University of Notre Dame, Notre Dame, Indiana, United States of America

Katrina Epperson

Contributed equally to this work with: Jenny Shin, Katrina Epperson

Affiliation Center for Rare and Neglected Diseases, University of Notre Dame, Notre Dame, Indiana, United States of America

Nicole M. Yanjanin

Affiliation Program in Developmental Endocrinology and Genetics, NICHD, National Institutes of Health, DHHS, Bethesda, Maryland, United States of America

Jennifer Albus

Affiliation NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

Laura Borgenheimer

Affiliation NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

Natalie Bott

Affiliation NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

Erin Brennan

Affiliation NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

Daniel Castellanos

Affiliation NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

Melissa Cheng

Affiliation NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

Michael Clark

Affiliation NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

Margaret Devany

Affiliation NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

Courtney Ensslin

Affiliation NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

Nina Farivari

Affiliation NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

Shanik Fernando

Affiliation NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

Lauren Gabriel

Affiliation NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

Rani Gallardo

Affiliation NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

Moriah Castleman

Affiliation NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

Olimpia Gutierrez

Affiliation NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

Allison Herschel

Affiliation NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

Sarah Hodge

Affiliation NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

Anne Horst

Affiliation NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

Mary Howard

Affiliation NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

Evan James

Affiliation NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

Lindsey Jones

Affiliation NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

Mary Kearns

Affiliation NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

Mary Kelly

Affiliation NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

Christine Kim

Affiliation NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

Kinzie Kiser

Affiliation NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

Gregory Klazura

Affiliation NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

Chris Knoedler

Affiliation NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

Emily Kolbus

Affiliation NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

Lauren Lange

Affiliation NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

Joan Lee

Affiliation NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

Eileena Li

Affiliation NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

Wei Lu

Affiliation NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

Andrew Luttrell

Affiliation NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

Emily Ly

Affiliation NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

Katherine McKeough

Affiliation NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

Brianna McSorley

Affiliation NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

Catherine Miller

Affiliation NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

Sean Mitchell

Affiliation NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

Abbey Moon

Affiliation NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

Kevin Moser

Affiliation NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

Shane O'Brien

Affiliation NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

Paula Olivieri

Affiliation NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

Aaron Patzwahl

Affiliation NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

Marie Pereira

Affiliation NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

Craig Pymento

Affiliation NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

Erin Ramelb

Affiliation NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

Bryce Ramos

Affiliation NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

Teresa Raya

Affiliation NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

Stephen Riney

Affiliation NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

Geoff Roberts

Affiliation NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

Mark Robertshaw

Affiliation NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

Frannie Rudolf

Affiliation NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

Samuel Rund

Affiliation NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

Stephanie Sansone

Affiliation NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

Lindsay Schwartz

Affiliation NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

Ryan Shay

Affiliation NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

Edwin Siu

Affiliation NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

Timothy Spear

Affiliation NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

Catherine Tan

Affiliation NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

Marisa Truong

Affiliation NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

Mairaj Uddin

Affiliation NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

Jennifer VanTrieste

Affiliation NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

Omar Veloz

Affiliation NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

Elizabeth White

Affiliation NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

Forbes D. Porter

Affiliation Program in Developmental Endocrinology and Genetics, NICHD, National Institutes of Health, DHHS, Bethesda, Maryland, United States of America

Kasturi Haldar

khaldar@nd.edu

Affiliation Center for Rare and Neglected Diseases, University of Notre Dame, Notre Dame, Indiana, United States of America

Competing Interests

The authors have declared that no competing interests exist.

Author Contributions

Conceived and designed the experiments: KH FDP JS KE NY. Performed the experiments: JS KE NY JA LB NB EB DC M. Castleman M. Cheng M. Clark LD CE NF SF LG RG OG WH A. Herschel SH A. Horst MH EJ LJ M. Kearns M. Kelly C. Kim KK GK C. Knoedler EK LL JL E. Li WL AL E. Ly K. McKeough BM CM SM AM K. Moser SO PO AP MP CP ER BR TR GR MR FR S. Riney S. Rund SS LS RS ES TS CDT MT MU JV OV EW FDP KH. Analyzed the data: JS KE NY JA LB NB EB DC M. Castleman M. Cheng M. Clark LD CE NF SF LG RG OG WH A. Herschel SH A. Horst MH EJ LJ M. Kearns M. Kelly C. Kim KK GK C. Knoedler EK LL JL E. Li WL AL E. Ly K. McKeough BM CM SM AM K. Moser SO PO AP MP CP ER BR TR GR MR FR S. Riney S. Rund SS LS RS ES TS CDT MT MU JV OV EW FDP KH. Contributed reagents/materials/analysis tools: KH FDP JS KE NY. Wrote the paper: KH FDP JS KE NY.