Lisa T Emrick

Jill A Rosenfeld 6 collaborations

Lindsay C Burrage 5 collaborations

None None 5 collaborations

Sarah H Elsea 4 collaborations

Marwan Shinawi 3 collaborations

Seema R Lalani 3 collaborations

V Reid Sutton 3 collaborations

Mahim Jain 3 collaborations

Carlos A Bacino 3 collaborations

Hsiao-Tuan Chao 3 collaborations

Adam D Kennedy 2 collaborations

Kirk L Pappan 2 collaborations

Taraka Donti 2 collaborations

Mauricio R Delgado 2 collaborations

Toni S Pearson 2 collaborations

Anne M Evans 2 collaborations

Qin Sun 2 collaborations

Alyssa A Tran 2 collaborations

David R Murdock 2 collaborations

Brendan Lee 2 collaborations

Bertrand Isidor 2 collaborations

Fernando Scaglia 2 collaborations

Adeline Vanderver 2 collaborations

John W Belmont 2 collaborations

Daniel G Calame 2 collaborations

Brendan H Lee 2 collaborations

Shannon M DiCarlo 1 collaboration

William E Craigen 1 collaboration

Beryl Royer-Bertrand 1 collaboration

Marine Jequier Gygax 1 collaboration

Katarina Cisarova 1 collaboration

Jennifer A Bassetti 1 collaboration

Oana Moldovan 1 collaboration

Emily O'Heir 1 collaboration

Jake Allen 1 collaboration

Emma Eastman 1 collaboration

Camille Kumps 1 collaboration

Safdar Abbas 1 collaboration

Geraldine Van Winckel 1 collaboration

Nadia Chabane 1 collaboration

Elaine H Zackai 1 collaboration

Sebastien Lebon 1 collaboration

Beth Keena 1 collaboration

Elizabeth J Bhoj 1 collaboration

Muhammad Umair 1 collaboration

Dong Li 1 collaboration

Kirsten A Donald 1 collaboration

Andrea Superti-Furga 1 collaboration

Ronit Marom 1 collaboration

Rossella Venditti 1 collaboration

Aurélie Clément 1 collaboration

Bernardo Blanco-Sánchez 1 collaboration

Daryl A Scott 1 collaboration

Ghayda Mirzaa 1 collaboration

Catherine DeVile 1 collaboration

Rowenna Roberts 1 collaboration

Alistair D Calder 1 collaboration

Jeremy Allgrove 1 collaboration

Ingo Grafe 1 collaboration

Denise G Lanza 1 collaboration

Xiaohui Li 1 collaboration

Kyu Sang Joeng 1 collaboration

Yi-Chien Lee 1 collaboration

I-Wen Song 1 collaboration

Joseph M Sliepka 1 collaboration

Dominyka Batkovskyte 1 collaboration

Megan Washington 1 collaboration

Brian C Dawson 1 collaboration

Zixue Jin 1 collaboration

Ming-Ming Jiang 1 collaboration

Shan Chen 1 collaboration

Yuqing Chen 1 collaboration

Neil A Hanchard 1 collaboration

Gladys E Zapata 1 collaboration

Nitesh R Mehta 1 collaboration

Mary Ann Weis 1 collaboration

Abbey A Scott 1 collaboration

Brenna A Tremp 1 collaboration

Jennifer B Phillips 1 collaboration

Jeremy Wegner 1 collaboration

Tashunka Taylor-Miller 1 collaboration

Richard A Gibbs 1 collaboration

Donna M Muzny 1 collaboration

Shalini N Jhangiani 1 collaboration

John Hicks 1 collaboration

Rolf W Stottmann 1 collaboration

Mary E Dickinson 1 collaboration

John R Seavitt 1 collaboration

Jason D Heaney 1 collaboration

David R Eyre 1 collaboration

Monte Westerfield 1 collaboration

Maria Antonietta De Matteis 1 collaboration

Berardo Rinaldi 1 collaboration

Allan Bayat 1 collaboration

Linda G Zachariassen 1 collaboration

Jia-Hui Sun 1 collaboration

Yu-Han Ge 1 collaboration

Dan Zhao 1 collaboration

Kristine Bonde 1 collaboration

Laura H Madsen 1 collaboration

Ilham Abdimunim Ali Awad 1 collaboration

Duygu Bagiran 1 collaboration

Amal Sbeih 1 collaboration

Syeda Maidah Shah 1 collaboration

Shaymaa El-Sayed 1 collaboration

Signe M Lyngby 1 collaboration

Miriam G Pedersen 1 collaboration

Charlotte Stenum-Berg 1 collaboration

Louise Claudia Walker 1 collaboration

Ilona Krey 1 collaboration

Andrée Delahaye-Duriez 1 collaboration

Krystal Sully 1 collaboration

Chaya N Murali 1 collaboration

Julie Ana Plaud Gonzalez 1 collaboration

Mered Parnes 1 collaboration

Jennifer Friedman 1 collaboration

Jérémie Lefranc 1 collaboration

Sylvia Redon 1 collaboration

Delphine Heron 1 collaboration

Cyril Mignot 1 collaboration

Boris Keren 1 collaboration

Mélanie Fradin 1 collaboration

Christele Dubourg 1 collaboration

Sandra Mercier 1 collaboration

Thomas Besnard 1 collaboration

Benjamin Cogne 1 collaboration

Wallid Deb 1 collaboration

Clotilde Rivier 1 collaboration

Donatella Milani 1 collaboration

Maria Francesca Bedeschi 1 collaboration

Claudia Di Napoli 1 collaboration

Federico Grilli 1 collaboration

Paola Marchisio 1 collaboration

Suzanna Koudijs 1 collaboration

Danielle Veenma 1 collaboration

Emanuela Argilli 1 collaboration

Sally Ann Lynch 1 collaboration

Ping Yee Billie Au 1 collaboration

Fernando Eduardo Ayala Valenzuela 1 collaboration

Carolyn Brown 1 collaboration

Diane Masser-Frye 1 collaboration

Marilyn Jones 1 collaboration

Leslie Patron Romero 1 collaboration

Wenhui Laura Li 1 collaboration

Erin Thorpe 1 collaboration

Laura Hecher 1 collaboration

Jessika Johannsen 1 collaboration

Jonas Denecke 1 collaboration

Vanda McNiven 1 collaboration

Anna Szuto 1 collaboration

Emma Wakeling 1 collaboration

Vincent Cruz 1 collaboration

Valerie Sency 1 collaboration

Heng Wang 1 collaboration

Juliette Piard 1 collaboration

Fanny Kortüm 1 collaboration

Theresia Herget 1 collaboration

Tatjana Bierhals 1 collaboration

Angelo Condell 1 collaboration

Bruria Ben Zeev 1 collaboration

Simranpreet Kaur 1 collaboration

John Christodoulou 1 collaboration

Amelie Piton 1 collaboration

Christiane Zweier 1 collaboration

Cornelia Kraus 1 collaboration

Alessia Micalizzi 1 collaboration

Marina Trivisano 1 collaboration

Nicola Specchio 1 collaboration

Gaetan Lesca 1 collaboration

Rikke S Møller 1 collaboration

Zeynep Tümer 1 collaboration

Maria Musgaard 1 collaboration

Benedicte Gerard 1 collaboration

Johannes R Lemke 1 collaboration

Yun Stone Shi 1 collaboration

Anders S Kristensen 1 collaboration

Ameya S Walimbe 1 collaboration

Keren Machol 1 collaboration

Stephen F Kralik 1 collaboration

Elizabeth A Mizerik 1 collaboration

Yoel Gofin 1 collaboration

Mir Reza Bekheirnia 1 collaboration

Charul Gijavanekar 1 collaboration

Nilesh K Desai 1 collaboration

Austin Larson 1 collaboration

Kimberly Kripps 1 collaboration

Ryan J Taft 1 collaboration

Krista Bluske 1 collaboration

Denise Perry 1 collaboration

Honey Nagakura 1 collaboration

LaDonna L Immken 1 collaboration

Undiagnosed Diseases Network 1 collaboration

KimberlyA Kripps 1 collaboration

Warapan Nakayuenyongsuk 1 collaboration

Brian J Shayota 1 collaboration

William Berquist 1 collaboration

Natalia Gomez-Ospina 1 collaboration

Carlos O Esquivel 1 collaboration

Waldo Concepcion 1 collaboration

Jacinda B Sampson 1 collaboration

David J Cristin 1 collaboration

Whitney E Jackson 1 collaboration

Samuel Gilliland 1 collaboration

Elizabeth A Pomfret 1 collaboration

Michael L Kueht 1 collaboration

Rowland W Pettit 1 collaboration

Youmna A Sherif 1 collaboration

Ryan Himes 1 collaboration

Michio Hirano 1 collaboration

Johan L K Van Hove 1 collaboration

Gregory M Enns 1 collaboration

Austin A Larson 1 collaboration

Vijay S Ganesh 1 collaboration

Kevin Riquin 1 collaboration

Nicolas Chatron 1 collaboration

Kay-Marie Lamar 1 collaboration

Miriam C Aziz 1 collaboration

Pauline Monin 1 collaboration

Melanie O'Leary 1 collaboration

Julia K Goodrich 1 collaboration

Kiran V Garimella 1 collaboration

Eleina England 1 collaboration

Esther Yoon 1 collaboration

Ben Weisburd 1 collaboration

Francois Aguet 1 collaboration

Hongzheng Dai 1 collaboration

Shamika Ketkar 1 collaboration

Yael Sarusi 1 collaboration

Damien Sanlaville 1 collaboration

Saima Kayani 1 collaboration

Brian Broadbent 1 collaboration

Alisée Pengam 1 collaboration

Benjamin Cogné 1 collaboration

Daniel G MacArthur 1 collaboration

Igor Ulitsky 1 collaboration

Gemma L Carvill 1 collaboration

Anne O'Donnell-Luria 1 collaboration

Laura Ann Adang 1 collaboration

Anjana Sevagamoorthy 1 collaboration

Omar Sherbini 1 collaboration

Jamie L Fraser 1 collaboration

Joshua L Bonkowsky 1 collaboration

Francesco Gavazzi 1 collaboration

Russel D'Aiello 1 collaboration

Nicholson B Modesti 1 collaboration

Emily Yu 1 collaboration

Sylvia Mutua 1 collaboration

Emma Kotes 1 collaboration

Justine Shults 1 collaboration

Ariel Vincent 1 collaboration

Stephanie Keller 1 collaboration

Keith P Van Haren 1 collaboration

Sarah Woidill 1 collaboration

Isabella Barcelos 1 collaboration

Amy Pizzino 1 collaboration

Johanna L Schmidt 1 collaboration

Florian Eichler 1 collaboration

Ali Fatemi 1 collaboration

Maureen Handoko 1 collaboration

Xia Wang 1 collaboration

Alicia Turner 1 collaboration

Dongxue Mao 1 collaboration

Chloe M Reuter 1 collaboration

Maura R Z Ruzhnikov 1 collaboration

Anita E Beck 1 collaboration

Emily G Farrow 1 collaboration

Katherine M Mackenzie 1 collaboration

Laurie Robak 1 collaboration

Matthew T Wheeler 1 collaboration

Pengfei Liu 1 collaboration

Daniel Calame 1 collaboration

Sébastien Küry 1 collaboration

Martin Sillesen 1 collaboration

Klaus Schmitz-Abe 1 collaboration

Davide Tonduti 1 collaboration

Luigina Spaccini 1 collaboration

Maria Iascone 1 collaboration

Casie A Genetti 1 collaboration

Mary K Koenig 1 collaboration

Madeline Graf 1 collaboration

Alyssa Tran 1 collaboration

Mercedes Alejandro 1 collaboration

Isabelle Thiffault 1 collaboration

Pankaj B Agrawal 1 collaboration

Jonathan A Bernstein 1 collaboration

Hugo J Bellen 1 collaboration

William J Craigen 1 collaboration

Meagan Hainlen 1 collaboration

Danielle Takacs 1 collaboration

Leah Ferrante 1 collaboration

Kayla Pence 1 collaboration

Affiliations

Publications (15)

The Expanding Role of Genetics in Cerebral Palsy.

2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis.

De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures.

COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay.

Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.

Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case report.

Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrum.

Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).

Novel syndromic neurodevelopmental disorder caused by de novo deletion of

Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach.

Functional genomics and small molecules in mitochondrial neurodevelopmental disorders.

Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature.

De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.

Corrigendum: 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis.

Réseau de co-auteurs