Jorge L Granadillo

None None 5 collaborations

Jorge Luis Granadillo 4 collaborations

Rachel Slaugh 3 collaborations

Konrad Platzer 3 collaborations

Rami Abou Jamra 2 collaborations

Alexander P A Stegmann 2 collaborations

Margje Sinnema 2 collaborations

Patricia Newkirk 2 collaborations

Shivarajan M Amudhavalli 2 collaborations

Lindsay C Burrage 2 collaborations

Lisa Emrick 2 collaborations

Kendra Engleman 2 collaborations

Sylvie Odent 2 collaborations

Jill A Rosenfeld 2 collaborations

Isabelle Thiffault 2 collaborations

Rodrigo Tzovenos Starosta 2 collaborations

Boris Keren 2 collaborations

Cyril Mignot 2 collaborations

Laurie H Seaver 2 collaborations

Matthew L Tedder 2 collaborations

Bekim Sadikovic 2 collaborations

Elizabeth A Werren 1 collaboration

Alba Guxholli 1 collaboration

Natasha Jones 1 collaboration

Matias Wagner 1 collaboration

Iris Hannibal 1 collaboration

Amanda V Tyndall 1 collaboration

Amanda Moccia 1 collaboration

Ryan Kuehl 1 collaboration

Kristin M Levandoski 1 collaboration

Debra L Day-Salvatore 1 collaboration

Marsha Wheeler 1 collaboration

Jessica X Chong 1 collaboration

Michael J Bamshad 1 collaboration

A Micheil Innes 1 collaboration

Tyler Mark Pierson 1 collaboration

Joel P Mackay 1 collaboration

Stephanie L Bielas 1 collaboration

Donna M Martin 1 collaboration

Xueyang Pan 1 collaboration

Alice M Tao 1 collaboration

Shenzhao Lu 1 collaboration

Mengqi Ma 1 collaboration

Shabab B Hannan 1 collaboration

Sarah Drewes Williams 1 collaboration

Lauren O'Grady 1 collaboration

Oguz Kanca 1 collaboration

Richard Person 1 collaboration

Melissa T Carter 1 collaboration

Franziska Schnabel 1 collaboration

Amy E Roberts 1 collaboration

Jane W Newburger 1 collaboration

Anya Revah-Politi 1 collaboration

Andrea Accogli 1 collaboration

Vincenzo Salpietro 1 collaboration

Valeria Capra 1 collaboration

Lina Ghaloul-Gonzalez 1 collaboration

Martina Brueckner 1 collaboration

Marleen E H Simon 1 collaboration

David A Sweetser 1 collaboration

Kevin E Glinton 1 collaboration

Susan E Kirk 1 collaboration

Michael F Wangler 1 collaboration

Shinya Yamamoto 1 collaboration

Wendy K Chung 1 collaboration

Hugo J Bellen 1 collaboration

Hui Guo 1 collaboration

Kun Xia 1 collaboration

Brad Angle 1 collaboration

Kelly Bontempo 1 collaboration

Judith D Ranells 1 collaboration

Carrie Costin 1 collaboration

Joleen Viront 1 collaboration

Constanze T Stumpel 1 collaboration

Bianca Panis 1 collaboration

Rolph Pfundt 1 collaboration

Ingrid P C Krapels 1 collaboration

Merel Klaassens 1 collaboration

Joost Nicolai 1 collaboration

Jinliang Li 1 collaboration

Yuwu Jiang 1 collaboration

Elysa Marco 1 collaboration

Ana Canton 1 collaboration

Ana Claudia Latronico 1 collaboration

Luciana Montenegro 1 collaboration

Bruno Leheup 1 collaboration

Celine Bonnet 1 collaboration

Caitlin E Lawson 1 collaboration

Kirsty McWalter 1 collaboration

Aida Telegrafi 1 collaboration

Richard Pearson 1 collaboration

Malin Kvarnung 1 collaboration

Xia Wang 1 collaboration

Weimin Bi 1 collaboration

Jill Anne Rosenfeld 1 collaboration

Marwan Shinawi 1 collaboration

Parith Wongkittichote 1 collaboration

Garland Michael Upchurch 1 collaboration

Louis P Dehner 1 collaboration

Timothy Wood 1 collaboration

Lance H Rodan 1 collaboration

Rebecca C Spillmann 1 collaboration

Harley T Kurata 1 collaboration

Shawn M Lamothe 1 collaboration

Jasmine Maghera 1 collaboration

Anna Alkelai 1 collaboration

Stylianos E Antonarakis 1 collaboration

Isis Atallah 1 collaboration

Omer Bar-Yosef 1 collaboration

Frédéric Bilan 1 collaboration

Kathrine Bjorgo 1 collaboration

Xavier Blanc 1 collaboration

Patrick Van Bogaert 1 collaboration

Yoav Bolkier 1 collaboration

Björn U Christ 1 collaboration

Patricia Dickson 1 collaboration

Kirsten A Donald 1 collaboration

Christèle Dubourg 1 collaboration

Aviva Eliyahu 1 collaboration

Michaela Veronika Gonfiantini 1 collaboration

Jean-Marc Good 1 collaboration

Judith Kalser 1 collaboration

Chiara Kloeckner 1 collaboration

Guus Lachmeijer 1 collaboration

Marina Macchiaiolo 1 collaboration

Francesco Nicita 1 collaboration

Emily O'Heir 1 collaboration

Xilma Ortiz-Gonzalez 1 collaboration

Marta Pacio-Miguez 1 collaboration

María Palomares-Bralo 1 collaboration

Loren Pena 1 collaboration

Mathieu Quinodoz 1 collaboration

Emmanuelle Ranza 1 collaboration

Eliane Roulet-Perez 1 collaboration

Avni Santani 1 collaboration

Fernando Santos-Simarro 1 collaboration

Ben Pode-Shakked 1 collaboration

Cara Skraban 1 collaboration

Andrea Superti-Furga 1 collaboration

Richard H van Jaabrsveld 1 collaboration

Marie Vincent 1 collaboration

Hong-Gang Wang 1 collaboration

Pia Zacher 1 collaboration

Eric Rush 1 collaboration

Geoffrey S Pitt 1 collaboration

Ping Yee Billie Au 1 collaboration

Vandana Shashi 1 collaboration

Andrew C Liu 1 collaboration

Yang Shen 1 collaboration

Carolyn R Serbinski 1 collaboration

Hongzhi He 1 collaboration

Destino Roman 1 collaboration

Mehari Endale 1 collaboration

Lindsey Aschbacher-Smith 1 collaboration

Katherine A King 1 collaboration

Isabel López 1 collaboration

Darcy A Krueger 1 collaboration

Thomas J Dye 1 collaboration

David F Smith 1 collaboration

John B Hogenesch 1 collaboration

Carlos E Prada 1 collaboration

Víctor Faundes 1 collaboration

Martin D Jennings 1 collaboration

Siobhan Crilly 1 collaboration

Sarah Legraie 1 collaboration

Sarah E Withers 1 collaboration

Sara Cuvertino 1 collaboration

Sally J Davies 1 collaboration

Andrew G L Douglas 1 collaboration

Andrew E Fry 1 collaboration

Victoria Harrison 1 collaboration

Jeanne Amiel 1 collaboration

Daphné Lehalle 1 collaboration

William G Newman 1 collaboration

Judith Ranells 1 collaboration

Miranda Splitt 1 collaboration

Laura A Cross 1 collaboration

Carol J Saunders 1 collaboration

Bonnie R Sullivan 1 collaboration

Christopher T Gordon 1 collaboration

Paul R Kasher 1 collaboration

Graham D Pavitt 1 collaboration

Siddharth Banka 1 collaboration

Kalyani R Patel 1 collaboration

Milton J Finegold 1 collaboration

Janis Stoll 1 collaboration

Sakil Kulkarni 1 collaboration

Joanna J Chmielewska 1 collaboration

Deepika Burkardt 1 collaboration

Shamile Morgan 1 collaboration

Joshua Rotenberg 1 collaboration

Luis Escobar 1 collaboration

Peter Turnpenny 1 collaboration

Melissa Zuteck 1 collaboration

Rafal Ploski 1 collaboration

Magdalena Dziembowska 1 collaboration

Anthony Wynshaw-Boris 1 collaboration

Abidemi Adegbola 1 collaboration

Ying-Chen Claire Hou 1 collaboration

Katelyn Leestma 1 collaboration

Prapti Singh 1 collaboration

Luke Viehl 1 collaboration

Linda Manwaring 1 collaboration

Molly C Schroeder 1 collaboration

Jamie N Colombo 1 collaboration

Halana Whitehead 1 collaboration

Patricia Irene Dickson 1 collaboration

Monica L Hulbert 1 collaboration

Hoanh Thi Nguyen 1 collaboration

Edward Jin Lee 1 collaboration

Raja Dandamudi 1 collaboration

Dorothy Katherine Grange 1 collaboration

Aadil Kakajiwala 1 collaboration

Kévin Uguen 1 collaboration

Kilannin Krysiak 1 collaboration

Séverine Audebert-Bellanger 1 collaboration

Sylvia Redon 1 collaboration

Caroline Benech 1 collaboration

Eléonore Viora-Dupont 1 collaboration

Frederic Tran Mau-Them 1 collaboration

Sophie Rondeau 1 collaboration

Ibrahim Elsharkawi 1 collaboration

Julie Neidich 1 collaboration

Celia Azevedo Soares 1 collaboration

Natáliya Tkachenko 1 collaboration

Anne Boland 1 collaboration

Jean-François Deleuze 1 collaboration

Stéphane Bezieau 1 collaboration

Annick Toutain 1 collaboration

Dominique Bonneau 1 collaboration

Brigitte Gilbert-Dussardier 1 collaboration

Laurence Faivre 1 collaboration

Marlène Rio 1 collaboration

Cedric Le Marechal 1 collaboration

Claude Ferec 1 collaboration

Elena Repnikova 1 collaboration

Yang Cao 1 collaboration

Xuan Thi Anh Nguyen 1 collaboration

Thanh Nha Uyen Le 1 collaboration

Toan Q Nguyen 1 collaboration

Hoa Thi Thuy Ha 1 collaboration

Anna Artati 1 collaboration

Nancy C P Leong 1 collaboration

Dat T Nguyen 1 collaboration

Pei Yen Lim 1 collaboration

Adelia Vicanatalita Susanto 1 collaboration

Qianhui Huang 1 collaboration

Ling Fam 1 collaboration

Lo Ngah Leong 1 collaboration

Isabelle Bonne 1 collaboration

Angela Lee 1 collaboration

Catherine Gooch 1 collaboration

Dejie Yu 1 collaboration

Hua Huang 1 collaboration

Tuck Wah Soong 1 collaboration

Matthew Wook Chang 1 collaboration

Markus R Wenk 1 collaboration

Jerzy Adamski 1 collaboration

Amaury Cazenave-Gassiot 1 collaboration

Long N Nguyen 1 collaboration

Maria Carla Borroto 1 collaboration

Heena Patel 1 collaboration

Siddharth Srivastava 1 collaboration

Lindsay C Swanson 1 collaboration

Sandra Whalen 1 collaboration

Xiaodong Wang 1 collaboration

Qian Chen 1 collaboration

Scott McLean 1 collaboration

Rebecca O Littlejohn 1 collaboration

Ruben Attali 1 collaboration

Gaetan Lesca 1 collaboration

Cecile Acquaviva-Bourdain 1 collaboration

Catherine Sarret 1 collaboration

Tobias Bartolomaeus 1 collaboration

Cornelia Wünsch 1 collaboration

Susann Fischer 1 collaboration

Ana Maria Rodriguez Barreto 1 collaboration

Elisabeth Schreiner 1 collaboration

Theresa Brunet 1 collaboration

Ulrich A Schatz 1 collaboration

Sureni V Mullegama 1 collaboration

Jacques L Michaud 1 collaboration

Fadi F Hamdan 1 collaboration

Elsa Rossignol 1 collaboration

Philippe M Campeau 1 collaboration

Daniel J Wegner 1 collaboration

Alexander J Paul 1 collaboration

Marcia Willing 1 collaboration

Kathleen Sisco 1 collaboration

Jennifer A Wambach 1 collaboration

Dustin Baldridge 1 collaboration

Francis Sessions Cole 1 collaboration

Michael A Levy 1 collaboration

Jennifer Kerkhof 1 collaboration

Erfan Aref-Eshghi 1 collaboration

Laila Schenkel 1 collaboration

Alan Stuart 1 collaboration

Haley McConkey 1 collaboration

Peter Henneman 1 collaboration

Andrea Venema 1 collaboration

Charles E Schwartz 1 collaboration

Roger E Stevenson 1 collaboration

Steven A Skinner 1 collaboration

Barbara R DuPont 1 collaboration

Robin S Fletcher 1 collaboration

Tugce B Balci 1 collaboration

Victoria Mok Siu 1 collaboration

Jennefer Masters 1 collaboration

Mike Kadour 1 collaboration

Michael J Friez 1 collaboration

Mieke M van Haelst 1 collaboration

Marcel M A M Mannens 1 collaboration

Raymond J Louie 1 collaboration

Jennifer A Lee 1 collaboration

Marielle Alders 1 collaboration

Affiliations

Publications (16)

De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features.

Pathogenic variants in

Placental pathology in an unsuspected case of mucolipidosis type II with secondary hyperparathyroidism in a premature infant.

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.

Clinical and Functional Studies of MTOR Variants in Smith-Kingsmore Syndrome Reveal Deficits of Circadian Rhythm and Sleep-Wake Behavior.

Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine.

Intrahepatic Cholestasis, Refractory Epilepsy, Skeletal Dysplasia, Endocrine Failure, and Dysmorphic Features in a Child With a Monoallelic 2q24-32.2 Deletion Encompassing ABCB11.

Infantile-onset Pompe disease complicated by sickle cell anemia: Case report and management considerations.

Rare cause of xanthinuria: a pediatric case of molybdenum cofactor deficiency B.

Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly.

MFSD7c functions as a transporter of choline at the blood-brain barrier.

Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder.

Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses.

Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders.

Réseau de co-auteurs