Accueil
Alexis Heidlebaugh
Alexis Heidlebaugh
Affiliations
Autism & Developmental Medicine Institute, Geisinger, Danville, Pennsylvania, USA.
ORCID: https://orcid.org/0000-0003-3354-1746
Publications (3)
Experiences of genetic counseling students with disabilities and chronic illnesses: A qualitative study.
Journal of genetic counseling
Avec:
Rachel Epstein
,
Laura Fuerstman
,
Alexis Heidlebaugh
,
Julia Schiller
,
Kimberly Zayhowski
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.
American journal of human genetics
Avec:
Daniel G Calame
,
Tianyu Guo
,
Chen Wang
,
Lillian Garrett
,
Angad Jolly
,
Moez Dawood
,
Alina Kurolap
,
Noa Zunz Henig
,
Jawid M Fatih
,
Isabella Herman
,
Haowei Du
,
Tadahiro Mitani
,
Lore Becker
,
Birgit Rathkolb
,
Raffaele Gerlini
,
Claudia Seisenberger
,
Susan Marschall
,
Jill V Hunter
,
Amanda Gerard
,
Alexis Heidlebaugh
,
Thomas Challman
,
Rebecca C Spillmann
,
Shalini N Jhangiani
,
Zeynep Coban-Akdemir
,
Seema Lalani
,
Lingxiao Liu
,
Anya Revah-Politi
,
Alejandro Iglesias
,
Edwin Guzman
,
Evan Baugh
,
Nathalie Boddaert
,
Sophie Rondeau
,
Clothide Ormieres
,
Giulia Barcia
,
Queenie K G Tan
,
Isabelle Thiffault
,
Tomi Pastinen
,
Kazim Sheikh
,
Suur Biliciler
,
Davide Mei
,
Federico Melani
,
Vandana Shashi
,
Yuval Yaron
,
Mary Steele
,
Emma Wakeling
,
Elsebet Østergaard
,
Lusine Nazaryan-Petersen
,
Auteur inconnu
,
Francisca Millan
,
Teresa Santiago-Sim
,
Julien Thevenon
,
Ange-Line Bruel
,
Christel Thauvin-Robinet
,
Denny Popp
,
Konrad Platzer
,
Pawel Gawlinski
,
Wojciech Wiszniewski
,
Dana Marafi
,
Davut Pehlivan
,
Jennifer E Posey
,
Richard A Gibbs
,
Valerie Gailus-Durner
,
Renzo Guerrini
,
Helmut Fuchs
,
Martin Hrabě de Angelis
,
Sabine M Hölter
,
Hoi-Hung Cheung
,
Shen Gu
,
James R Lupski
Dominantly acting variants in vacuolar ATPase subunits impair lysosomal/autophagolysosome function causing a multisystemic disorder with neurocognitive impairment and multiple congenital anomalies.
HGG advances
Avec:
Giovanna Carpentieri
,
Serena Cecchetti
,
Gianfranco Bocchinfuso
,
Francesca Clementina Radio
,
Chiara Leoni
,
Roberta Onesimo
,
Paolo Calligari
,
Agostina Pietrantoni
,
Andrea Ciolfi
,
Marco Ferilli
,
Cristina Calderan
,
Gerarda Cappuccio
,
Simone Martinelli
,
Elena Messina
,
Viviana Caputo
,
Ulrike Hüffmeier
,
Cyril Mignot
,
Stéphane Auvin
,
Yline Capri
,
Charles Marques Lourenco
,
Bianca E Russell
,
Ahna Neustad
,
Nicola Brunetti Pierri
,
Boris Keren
,
André Reis
,
Julie S Cohen
,
Alexis Heidlebaugh
,
Clay Smith
,
Christian T Thiel
,
Leonardo Salviati
,
Giuseppe Zampino
,
Philippe M Campeau
,
Lorenzo Stella
,
Marco Tartaglia
,
Elisabetta Flex
Réseau de co-auteurs
Rachel Epstein
1 collaboration
Laura Fuerstman
1 collaboration
Julia Schiller
1 collaboration
Kimberly Zayhowski
1 collaboration
Daniel G Calame
1 collaboration
Tianyu Guo
1 collaboration
Chen Wang
1 collaboration
Lillian Garrett
1 collaboration
Angad Jolly
1 collaboration
Moez Dawood
1 collaboration
Alina Kurolap
1 collaboration
Noa Zunz Henig
1 collaboration
Jawid M Fatih
1 collaboration
Isabella Herman
1 collaboration
Haowei Du
1 collaboration
Tadahiro Mitani
1 collaboration
Lore Becker
1 collaboration
Birgit Rathkolb
1 collaboration
Raffaele Gerlini
1 collaboration
Claudia Seisenberger
1 collaboration
Susan Marschall
1 collaboration
Jill V Hunter
1 collaboration
Amanda Gerard
1 collaboration
Thomas Challman
1 collaboration
Rebecca C Spillmann
1 collaboration
Shalini N Jhangiani
1 collaboration
Zeynep Coban-Akdemir
1 collaboration
Seema Lalani
1 collaboration
Lingxiao Liu
1 collaboration
Anya Revah-Politi
1 collaboration
Alejandro Iglesias
1 collaboration
Edwin Guzman
1 collaboration
Evan Baugh
1 collaboration
Nathalie Boddaert
1 collaboration
Sophie Rondeau
1 collaboration
Clothide Ormieres
1 collaboration
Giulia Barcia
1 collaboration
Queenie K G Tan
1 collaboration
Isabelle Thiffault
1 collaboration
Tomi Pastinen
1 collaboration
Kazim Sheikh
1 collaboration
Suur Biliciler
1 collaboration
Davide Mei
1 collaboration
Federico Melani
1 collaboration
Vandana Shashi
1 collaboration
Yuval Yaron
1 collaboration
Mary Steele
1 collaboration
Emma Wakeling
1 collaboration
Elsebet Østergaard
1 collaboration
Lusine Nazaryan-Petersen
1 collaboration
None None
1 collaboration
Francisca Millan
1 collaboration
Teresa Santiago-Sim
1 collaboration
Julien Thevenon
1 collaboration
Ange-Line Bruel
1 collaboration
Christel Thauvin-Robinet
1 collaboration
Denny Popp
1 collaboration
Konrad Platzer
1 collaboration
Pawel Gawlinski
1 collaboration
Wojciech Wiszniewski
1 collaboration
Dana Marafi
1 collaboration
Davut Pehlivan
1 collaboration
Jennifer E Posey
1 collaboration
Richard A Gibbs
1 collaboration
Valerie Gailus-Durner
1 collaboration
Renzo Guerrini
1 collaboration
Helmut Fuchs
1 collaboration
Martin Hrabě de Angelis
1 collaboration
Sabine M Hölter
1 collaboration
Hoi-Hung Cheung
1 collaboration
Shen Gu
1 collaboration
James R Lupski
1 collaboration
Giovanna Carpentieri
1 collaboration
Serena Cecchetti
1 collaboration
Gianfranco Bocchinfuso
1 collaboration
Francesca Clementina Radio
1 collaboration
Chiara Leoni
1 collaboration
Roberta Onesimo
1 collaboration
Paolo Calligari
1 collaboration
Agostina Pietrantoni
1 collaboration
Andrea Ciolfi
1 collaboration
Marco Ferilli
1 collaboration
Cristina Calderan
1 collaboration
Gerarda Cappuccio
1 collaboration
Simone Martinelli
1 collaboration
Elena Messina
1 collaboration
Viviana Caputo
1 collaboration
Ulrike Hüffmeier
1 collaboration
Cyril Mignot
1 collaboration
Stéphane Auvin
1 collaboration
Yline Capri
1 collaboration
Charles Marques Lourenco
1 collaboration
Bianca E Russell
1 collaboration
Ahna Neustad
1 collaboration
Nicola Brunetti Pierri
1 collaboration
Boris Keren
1 collaboration
André Reis
1 collaboration
Julie S Cohen
1 collaboration
Clay Smith
1 collaboration
Christian T Thiel
1 collaboration
Leonardo Salviati
1 collaboration
Giuseppe Zampino
1 collaboration
Philippe M Campeau
1 collaboration
Lorenzo Stella
1 collaboration
Marco Tartaglia
1 collaboration
Elisabetta Flex
1 collaboration