About the Authors

Sara Gonçalves

Contributed equally to this work with: Sara Gonçalves, Julie Patat

Roles Conceptualization, Formal analysis, Investigation, Methodology, Validation, Visualization, Writing – original draft, Writing – review & editing

Affiliations Laboratory of Hereditary Kidney Diseases, Institut National de la Santé et de la Recherche Médicale (Inserm) UMR1163, Imagine Institute, Paris, France, Laboratory of Epithelial Biology and Disease, Institut National de la Santé et de la Recherche Médicale (Inserm) UMR1163, Imagine Institute, Paris, France, Université Paris Descartes—Sorbonne Paris Cité, Imagine Institute, Paris, France

Julie Patat

Contributed equally to this work with: Sara Gonçalves, Julie Patat

Roles Formal analysis, Investigation, Methodology, Validation, Visualization

Affiliations Laboratory of Hereditary Kidney Diseases, Institut National de la Santé et de la Recherche Médicale (Inserm) UMR1163, Imagine Institute, Paris, France, Université Paris Descartes—Sorbonne Paris Cité, Imagine Institute, Paris, France

Maria Clara Guida

Roles Formal analysis, Investigation, Validation, Visualization, Writing – original draft, Writing – review & editing

Affiliation Development, Aging and Regeneration Program, Sanford-Burnham-Prebys Medical Discovery Institute, La Jolla, CA, United States of America

Noelle Lachaussée

Roles Formal analysis, Investigation, Validation, Visualization, Writing – review & editing

Affiliations Laboratory of Hereditary Kidney Diseases, Institut National de la Santé et de la Recherche Médicale (Inserm) UMR1163, Imagine Institute, Paris, France, Université Paris Descartes—Sorbonne Paris Cité, Imagine Institute, Paris, France

Christelle Arrondel

Roles Investigation, Resources, Writing – review & editing

Affiliations Laboratory of Hereditary Kidney Diseases, Institut National de la Santé et de la Recherche Médicale (Inserm) UMR1163, Imagine Institute, Paris, France, Université Paris Descartes—Sorbonne Paris Cité, Imagine Institute, Paris, France

Martin Helmstädter

Roles Investigation, Writing – review & editing

Affiliation Department of Medicine IV, Medical Center–University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany

Olivia Boyer

Roles Investigation, Resources, Writing – review & editing

Affiliations Laboratory of Hereditary Kidney Diseases, Institut National de la Santé et de la Recherche Médicale (Inserm) UMR1163, Imagine Institute, Paris, France, Université Paris Descartes—Sorbonne Paris Cité, Imagine Institute, Paris, France, Department of Pediatric Nephrology, Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte (MARHEA), Hôpital Necker-Enfants Malades, Assistance Publique—Hôpitaux de Paris (AP-HP), Paris, France

Olivier Gribouval

Roles Investigation, Resources, Writing – review & editing

Affiliations Laboratory of Hereditary Kidney Diseases, Institut National de la Santé et de la Recherche Médicale (Inserm) UMR1163, Imagine Institute, Paris, France, Université Paris Descartes—Sorbonne Paris Cité, Imagine Institute, Paris, France

Marie-Claire Gubler

Roles Investigation, Resources, Writing – review & editing

Affiliations Laboratory of Hereditary Kidney Diseases, Institut National de la Santé et de la Recherche Médicale (Inserm) UMR1163, Imagine Institute, Paris, France, Université Paris Descartes—Sorbonne Paris Cité, Imagine Institute, Paris, France

Geraldine Mollet

Roles Investigation, Resources, Writing – review & editing

Affiliations Laboratory of Hereditary Kidney Diseases, Institut National de la Santé et de la Recherche Médicale (Inserm) UMR1163, Imagine Institute, Paris, France, Université Paris Descartes—Sorbonne Paris Cité, Imagine Institute, Paris, France

Marlène Rio

Roles Resources, Writing – review & editing

Affiliation Department of Genetics, Hôpital Necker-Enfants Malades, AP-HP, Paris, France

Marina Charbit

Roles Resources, Writing – review & editing

Affiliation Department of Pediatric Nephrology, Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte (MARHEA), Hôpital Necker-Enfants Malades, Assistance Publique—Hôpitaux de Paris (AP-HP), Paris, France

Christine Bole-Feysot

Roles Resources, Writing – review & editing

Affiliation Université Paris Descartes—Sorbonne Paris Cité, Imagine Institute, Paris, France

Patrick Nitschke

Roles Resources, Writing – review & editing

Affiliation Université Paris Descartes—Sorbonne Paris Cité, Imagine Institute, Paris, France

Tobias B. Huber

Roles Funding acquisition, Writing – review & editing

Affiliations Department of Medicine IV, Medical Center–University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany, BIOSS Center for Biological Signalling Studies and Center for Systems Biology (ZBSA), Albert-Ludwigs-University, Freiburg, Germany, III. Department of Medicine, University Medical Center Hamburg-Eppendorf, Hamburg, Germany

Patricia G. Wheeler

Roles Resources, Writing – review & editing

Affiliation Division of Genetics, Arnold Palmer Hospital for Children, Orlando Health, Orlando, FL, United States of America

Devon Haynes

Roles Resources, Writing – review & editing

Affiliation Division of Genetics, Arnold Palmer Hospital for Children, Orlando Health, Orlando, FL, United States of America

Jane Juusola

Roles Resources, Writing – review & editing

Affiliation GeneDx, Inc, Gaithersburg, MD, United States of America

Thierry Billette de Villemeur

Roles Resources, Writing – review & editing

Affiliations Sorbonne Université, UPMC, GRC ConCer-LD and AP-HP, Hôpital Trousseau, Service de Neuropédiatrie—Pathologie du développement, Paris, France, Centre de référence des déficits intellectuels de causes rares, Inserm U 1141, Paris, France

Caroline Nava

Roles Resources, Writing – review & editing

Affiliations Sorbonne Universités, UPMC Univ Paris 06, Inserm U1127, CNRS UMR 7225, Institut du Cerveau et de la Moèlle Épinière (ICM), Paris, France, AP-HP, GH Pitié-Salpêtrière, Department of Genetics, Unit of Developmental Genomics, Paris, France

Alexandra Afenjar

Roles Resources, Writing – review & editing

Affiliation AP-HP, Hôpital Trousseau, Centre de référence des malformations et maladies congénitales du cervelet, Département de génétique et embryologie médicale, Paris, France

Boris Keren

Roles Resources, Writing – review & editing

Affiliation AP-HP, GH Pitié-Salpêtrière, Department of Genetics, Unit of Developmental Genomics, Paris, France

Rolf Bodmer

Roles Investigation, Project administration, Resources, Supervision, Validation, Writing – original draft, Writing – review & editing

Affiliation Development, Aging and Regeneration Program, Sanford-Burnham-Prebys Medical Discovery Institute, La Jolla, CA, United States of America

Corinne Antignac

Roles Conceptualization, Funding acquisition, Investigation, Methodology, Project administration, Supervision, Validation, Writing – original draft, Writing – review & editing

corinne.antignac@inserm.fr (CA); matias.simons@institutimagine.org (MS)

Affiliations Laboratory of Hereditary Kidney Diseases, Institut National de la Santé et de la Recherche Médicale (Inserm) UMR1163, Imagine Institute, Paris, France, Université Paris Descartes—Sorbonne Paris Cité, Imagine Institute, Paris, France, Department of Genetics, Hôpital Necker-Enfants Malades, AP-HP, Paris, France

Matias Simons

Roles Conceptualization, Funding acquisition, Investigation, Methodology, Project administration, Resources, Supervision, Validation, Visualization, Writing – original draft, Writing – review & editing

corinne.antignac@inserm.fr (CA); matias.simons@institutimagine.org (MS)

Affiliations Laboratory of Epithelial Biology and Disease, Institut National de la Santé et de la Recherche Médicale (Inserm) UMR1163, Imagine Institute, Paris, France, Université Paris Descartes—Sorbonne Paris Cité, Imagine Institute, Paris, France

Competing Interests

Jane Juusola is an employee of GeneDx, Inc.