Adeline L Vanderver

Affiliations

Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, United States.
Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, United States.

Publications (7)

Leukocyte and Dried Blood Spot Arylsulfatase A Assay by Tandem Mass Spectrometry.

Analytical chemistry

Avec: Xinying Hong , Arun Babu Kumar , Jessica Daiker , Fan Yi , Martin Sadilek , Fabiola De Mattia , Francesca Fumagalli , Valeria Calbi , Roberta Damiano , Maria Della Bona , Giancarlo la Marca , Adeline L Vanderver , Amy T Waldman , Laura Adang , Omar Sherbini , Sarah Woidill , Teryn Suhr , Joanne Kurtzberg , Maria L Beltran-Quintero , Maria Escolar , Alessandro Aiuti , Alan Finglas , Amber Olsen , Michael H Gelb

Novel

Neurology. Genetics

Avec: Kristen N Wong , Lorenzo D Botto , Miao He , Peter R Baker , Adeline L Vanderver , Joshua L Bonkowsky

Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.

Human mutation

Avec: Gillian I Rice , Sehoon Park , Francesco Gavazzi , Laura A Adang , Loveline A Ayuk , Lien Van Eyck , Luis Seabra , Christophe Barrea , Roberta Battini , Alexandre Belot , Stefan Berg , Thierry Billette de Villemeur , Annette E Bley , Lubov Blumkin , Odile Boespflug-Tanguy , Tracy A Briggs , Elise Brimble , Russell C Dale , Niklas Darin , François-Guillaume Debray , Valentina De Giorgis , Jonas Denecke , Diane Doummar , Gunilla Drake Af Hagelsrum , Despina Eleftheriou , Margherita Estienne , Elisa Fazzi , François Feillet , Jessica Galli , Nicholas Hartog , Julie Harvengt , Bénédicte Heron , Delphine Heron , Diedre A Kelly , Dorit Lev , Virginie Levrat , John H Livingston , Itxaso Marti , Cyril Mignot , Fanny Mochel , Marie-Christine Nougues , Ilena Oppermann , Belén Pérez-Dueñas , Bernt Popp , Mathieu P Rodero , Diana Rodriguez , Veronica Saletti , Cia Sharpe , Davide Tonduti , Gayatri Vadlamani , Keith Van Haren , Miguel Tomas Vila , Julie Vogt , Evangeline Wassmer , Arnaud Wiedemann , Callum J Wilson , Ayelet Zerem , Christiane Zweier , Sameer M Zuberi , Simona Orcesi , Adeline L Vanderver , Sun Hur , Yanick J Crow

RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum.

Annals of clinical and translational neurology

Avec: Marisa I Mendes , Lydia M C Green , Enrico Bertini , Davide Tonduti , Chiara Aiello , Desiree Smith , Ettore Salsano , Shanice Beerepoot , Jozef Hertecant , Sarah von Spiczak , John H Livingston , Lisa Emrick , Jamie Fraser , Laura Russell , Genevieve Bernard , Stefania Magri , Daniela Di Bella , Franco Taroni , Mary K Koenig , Isabella Moroni , Gerarda Cappuccio , Nicola Brunetti-Pierri , Jullie Rhee , Bryce A Mendelsohn , Ingo Helbig , Katherine Helbig , Hiltrud Muhle , Omar Ismayl , Adeline L Vanderver , Gajja S Salomons , Marjo S van der Knaap , Nicole I Wolf

Hepatic Involvement in Aicardi-Goutières Syndrome.

Neuropediatrics

Avec: Francesco Gavazzi , Zachary M Cross , Sarah Woidill , Joseph M McMann , Elizabeth B Rand , Asako Takanohashi , Nicole Ulrick , Justine Shults , Adeline L Vanderver , Laura Adang

Dyschromatosis symmetrica hereditaria: A clue to early diagnosis of Aicardi-Goutières syndrome.

Pediatric dermatology

Avec: Fahad Ahmed , Ngan Do , Adeline L Vanderver , James R Treat

Utility of genome sequencing in exome-negative pediatric patients with neurodevelopmental phenotypes.

American journal of medical genetics. Part A

Avec: Tomoki T Nomakuchi , Eden Y Teferedegn , Dong Li , Kayla J Muirhead , Holly Dubbs , Jacqueline Leonard , Colleen Muraresku , Emily Sergio , Kaley Arnold , Amy Pizzino , Cara M Skraban , Elaine H Zackai , Kai Wang , Rebecca D Ganetzky , Adeline L Vanderver , Rebecca C Ahrens-Nicklas , Elizabeth J K Bhoj

Réseau de co-auteurs

Laura Adang 2 collaborations

Sarah Woidill 2 collaborations

Francesco Gavazzi 2 collaborations

John H Livingston 2 collaborations

Davide Tonduti 2 collaborations

Xinying Hong 1 collaboration

Arun Babu Kumar 1 collaboration

Jessica Daiker 1 collaboration

Fan Yi 1 collaboration

Martin Sadilek 1 collaboration

Fabiola De Mattia 1 collaboration

Francesca Fumagalli 1 collaboration

Valeria Calbi 1 collaboration

Roberta Damiano 1 collaboration

Maria Della Bona 1 collaboration

Giancarlo la Marca 1 collaboration

Amy T Waldman 1 collaboration

Omar Sherbini 1 collaboration

Teryn Suhr 1 collaboration

Joanne Kurtzberg 1 collaboration

Maria L Beltran-Quintero 1 collaboration

Maria Escolar 1 collaboration

Alessandro Aiuti 1 collaboration

Alan Finglas 1 collaboration

Amber Olsen 1 collaboration

Michael H Gelb 1 collaboration

Kristen N Wong 1 collaboration

Lorenzo D Botto 1 collaboration

Miao He 1 collaboration

Peter R Baker 1 collaboration

Joshua L Bonkowsky 1 collaboration

Gillian I Rice 1 collaboration

Sehoon Park 1 collaboration

Laura A Adang 1 collaboration

Loveline A Ayuk 1 collaboration

Lien Van Eyck 1 collaboration

Luis Seabra 1 collaboration

Christophe Barrea 1 collaboration

Roberta Battini 1 collaboration

Alexandre Belot 1 collaboration

Stefan Berg 1 collaboration

Thierry Billette de Villemeur 1 collaboration

Annette E Bley 1 collaboration

Lubov Blumkin 1 collaboration

Odile Boespflug-Tanguy 1 collaboration

Tracy A Briggs 1 collaboration

Elise Brimble 1 collaboration

Russell C Dale 1 collaboration

Niklas Darin 1 collaboration

François-Guillaume Debray 1 collaboration

Valentina De Giorgis 1 collaboration

Jonas Denecke 1 collaboration

Diane Doummar 1 collaboration

Gunilla Drake Af Hagelsrum 1 collaboration

Despina Eleftheriou 1 collaboration

Margherita Estienne 1 collaboration

Elisa Fazzi 1 collaboration

François Feillet 1 collaboration

Jessica Galli 1 collaboration

Nicholas Hartog 1 collaboration

Julie Harvengt 1 collaboration

Bénédicte Heron 1 collaboration

Delphine Heron 1 collaboration

Diedre A Kelly 1 collaboration

Dorit Lev 1 collaboration

Virginie Levrat 1 collaboration

Itxaso Marti 1 collaboration

Cyril Mignot 1 collaboration

Fanny Mochel 1 collaboration

Marie-Christine Nougues 1 collaboration

Ilena Oppermann 1 collaboration

Belén Pérez-Dueñas 1 collaboration

Bernt Popp 1 collaboration

Mathieu P Rodero 1 collaboration

Diana Rodriguez 1 collaboration

Veronica Saletti 1 collaboration

Cia Sharpe 1 collaboration

Gayatri Vadlamani 1 collaboration

Keith Van Haren 1 collaboration

Miguel Tomas Vila 1 collaboration

Julie Vogt 1 collaboration

Evangeline Wassmer 1 collaboration

Arnaud Wiedemann 1 collaboration

Callum J Wilson 1 collaboration

Ayelet Zerem 1 collaboration

Christiane Zweier 1 collaboration

Sameer M Zuberi 1 collaboration

Simona Orcesi 1 collaboration

Sun Hur 1 collaboration

Yanick J Crow 1 collaboration

Marisa I Mendes 1 collaboration

Lydia M C Green 1 collaboration

Enrico Bertini 1 collaboration

Chiara Aiello 1 collaboration

Desiree Smith 1 collaboration

Ettore Salsano 1 collaboration

Shanice Beerepoot 1 collaboration

Jozef Hertecant 1 collaboration

Sarah von Spiczak 1 collaboration

Lisa Emrick 1 collaboration

Jamie Fraser 1 collaboration

Laura Russell 1 collaboration

Genevieve Bernard 1 collaboration

Stefania Magri 1 collaboration

Daniela Di Bella 1 collaboration

Franco Taroni 1 collaboration

Mary K Koenig 1 collaboration

Isabella Moroni 1 collaboration

Gerarda Cappuccio 1 collaboration

Nicola Brunetti-Pierri 1 collaboration

Jullie Rhee 1 collaboration

Bryce A Mendelsohn 1 collaboration

Ingo Helbig 1 collaboration

Katherine Helbig 1 collaboration

Hiltrud Muhle 1 collaboration

Omar Ismayl 1 collaboration

Gajja S Salomons 1 collaboration

Marjo S van der Knaap 1 collaboration

Nicole I Wolf 1 collaboration

Zachary M Cross 1 collaboration

Joseph M McMann 1 collaboration

Elizabeth B Rand 1 collaboration

Asako Takanohashi 1 collaboration

Nicole Ulrick 1 collaboration

Justine Shults 1 collaboration

Fahad Ahmed 1 collaboration

Ngan Do 1 collaboration

James R Treat 1 collaboration

Tomoki T Nomakuchi 1 collaboration

Eden Y Teferedegn 1 collaboration

Dong Li 1 collaboration

Kayla J Muirhead 1 collaboration

Holly Dubbs 1 collaboration

Jacqueline Leonard 1 collaboration

Colleen Muraresku 1 collaboration

Emily Sergio 1 collaboration

Kaley Arnold 1 collaboration

Amy Pizzino 1 collaboration

Cara M Skraban 1 collaboration

Elaine H Zackai 1 collaboration

Kai Wang 1 collaboration

Rebecca D Ganetzky 1 collaboration

Rebecca C Ahrens-Nicklas 1 collaboration

Elizabeth J K Bhoj 1 collaboration