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Exome sequencing identifies a novel missense variant in CTSC causing nonsyndromic aggressive periodontitis
by
Molitor, Anne
,
Prud'homme, Tony
,
Miao, Zhichao
,
Conrad, Solène
,
Bloch-Zupan, Agnès
,
Pichot, Angélique
,
Hanauer, Antoine
,
Isidor, Bertrand
,
Bahram, Seiamak
,
Carapito, Raphael
Published in
Journal of human genetics
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Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features
by
Carapito, Raphael
,
Konantz, Martina
,
Paillard, Catherine
,
Miao, Zhichao
,
Pichot, Angélique
,
Leduc, Magalie S
,
Yang, Yaping
,
Bergstrom, Katie L
,
Mahoney, Donald H
,
Shardy, Deborah L
,
Alsaleh, Ghada
,
Naegely, Lydie
,
Kolmer, Aline
,
Paul, Nicodème
,
Hanauer, Antoine
,
Rolli, Véronique
,
Müller, Joëlle S
,
Alghisi, Elisa
,
Sauteur, Loïc
,
Macquin, Cécile
,
Morlon, Aurore
,
Sancho, Consuelo Sebastia
,
Amati-Bonneau, Patrizia
,
Procaccio, Vincent
,
Mosca-Boidron, Anne-Laure
,
Marle, Nathalie
,
Osmani, Naël
,
Lefebvre, Olivier
,
Goetz, Jacky G
,
Unal, Sule
,
Akarsu, Nurten A
,
Radosavljevic, Mirjana
,
Chenard, Marie-Pierre
,
Rialland, Fanny
,
Grain, Audrey
,
Béné, Marie-Christine
,
Eveillard, Marion
,
Vincent, Marie
,
Guy, Julien
,
Faivre, Laurence
,
Thauvin-Robinet, Christel
,
Thevenon, Julien
,
Myers, Kasiani
,
Fleming, Mark D
,
Shimamura, Akiko
,
Bottollier-Lemallaz, Elodie
,
Westhof, Eric
,
Lengerke, Claudia
,
Isidor, Bertrand
,
Bahram, Seiamak
Published in
The Journal of clinical investigation
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ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder
by
Carapito, Raphael
,
Ivanova, Ekaterina L.
,
Morlon, Aurore
,
Meng, Linyan
,
Molitor, Anne
,
Erdmann, Eva
,
Kieffer, Bruno
,
Pichot, Angélique
,
Naegely, Lydie
,
Kolmer, Aline
,
Paul, Nicodème
,
Hanauer, Antoine
,
Tran Mau-Them, Frédéric
,
Jean-Marçais, Nolwenn
,
Hiatt, Susan M.
,
Cooper, Gregory M.
,
Tvrdik, Tatiana
,
Muir, Alison M.
,
Dimartino, Clémantine
,
Chopra, Maya
,
Amiel, Jeanne
,
Gordon, Christopher T.
,
Dutreux, Fabien
,
Garde, Aurore
,
Thauvin-Robinet, Christel
,
Wang, Xia
,
Leduc, Magalie S.
,
Phillips, Meredith
,
Crawford, Heather P.
,
Kukolich, Mary K.
,
Hunt, David
,
Harrison, Victoria
,
Kharbanda, Mira
,
Smigiel, Robert
,
Gold, Nina
,
Hung, Christina Y.
,
Viskochil, David H.
,
Dugan, Sarah L.
,
Bayrak-Toydemir, Pinar
,
Joly-Helas, Géraldine
,
Guerrot, Anne-Marie
,
Schluth-Bolard, Caroline
,
Rio, Marlène
,
Wentzensen, Ingrid M.
,
McWalter, Kirsty
,
Schnur, Rhonda E.
,
Lewis, Andrea M.
,
Lalani, Seema R.
,
Mensah-Bonsu, Noël
,
Céraline, Jocelyn
,
Sun, Zijie
,
Ploski, Rafal
,
Bacino, Carlos A.
,
Mefford, Heather C.
,
Faivre, Laurence
,
Bodamer, Olaf
,
Chelly, Jamel
,
Isidor, Bertrand
,
Bahram, Seiamak
Published in
American journal of human genetics
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ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder
by
Carapito, Raphael
,
Ivanova, Ekaterina L.
,
Morlon, Aurore
,
Meng, Linyan
,
Molitor, Anne
,
Erdmann, Eva
,
Kieffer, Bruno
,
Pichot, Angélique
,
Naegely, Lydie
,
Kolmer, Aline
,
Paul, Nicodème
,
Hanauer, Antoine
,
Tran Mau-Them, Frédéric
,
Jean-Marçais, Nolwenn
,
Hiatt, Susan M.
,
Cooper, Gregory M.
,
Tvrdik, Tatiana
,
Muir, Alison M.
,
Dimartino, Clémantine
,
Chopra, Maya
,
Amiel, Jeanne
,
Gordon, Christopher T.
,
Dutreux, Fabien
,
Garde, Aurore
,
Thauvin-Robinet, Christel
,
Wang, Xia
,
Leduc, Magalie S.
,
Phillips, Meredith
,
Crawford, Heather P.
,
Kukolich, Mary K.
,
Hunt, David
,
Harrison, Victoria
,
Kharbanda, Mira
,
Smigiel, Robert
,
Gold, Nina
,
Hung, Christina Y.
,
Viskochil, David H.
,
Dugan, Sarah L.
,
Bayrak-Toydemir, Pinar
,
Joly-Helas, Géraldine
,
Guerrot, Anne-Marie
,
Schluth-Bolard, Caroline
,
Rio, Marlène
,
Wentzensen, Ingrid M.
,
McWalter, Kirsty
,
Schnur, Rhonda E.
,
Lewis, Andrea M.
,
Lalani, Seema R.
,
Mensah-Bonsu, Noël
,
Céraline, Jocelyn
,
Sun, Zijie
,
Ploski, Rafal
,
Bacino, Carlos A.
,
Mefford, Heather C.
,
Faivre, Laurence
,
Bodamer, Olaf
,
Chelly, Jamel
,
Isidor, Bertrand
,
Bahram, Seiamak
Published in
American journal of human genetics
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Correction to ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder
by
Carapito, Raphaël
,
Ivanova, Ekaterina
,
Morlon, Aurore
,
Meng, Linyan
,
Molitor, Anne
,
Erdmann, Eva
,
Kieffer, Bruno
,
Pichot, Angélique
,
Naegely, Lydie
,
Kolmer, Aline
,
Paul, Nicodème
,
Hanauer, Antoine
,
Tran Mau-Them, Frédéric
,
Jean-Marçais, Nolwenn
,
Hiatt, Susan
,
Cooper, Gregory
,
Tvrdik, Tatiana
,
Muir, Alison
,
Dimartino, Clémantine
,
Chopra, Maya
,
Amiel, Jeanne
,
Gordon, Christopher
,
Dutreux, Fabien
,
Garde, Aurore
,
Thauvin-Robinet, Christel
,
Wang, Xia
,
Leduc, Magalie
,
Phillips, Meredith
,
Crawford, Heather
,
Kukolich, Mary
,
Hunt, David
,
Harrison, Victoria
,
Kharbanda, Mira
,
Smigiel, Robert
,
Gold, Nina
,
Hung, Christina
,
Viskochil, David
,
Dugan, Sarah
,
Bayrak-Toydemir, Pinar
,
Joly-Helas, Géraldine
,
Guerrot, Anne-Marie
,
Schluth-Bolard, Caroline
,
Rio, Marlène
,
Wentzensen, Ingrid M.
,
Mcwalter, Kirsty
,
Schnur, Rhonda
,
Lewis, Andrea
,
Lalani, Seema
,
Mensah-Bonsu, Noël
,
Céraline, Jocelyn
,
Sun, Zijie
,
Ploski, Rafal
,
Bacino, Carlos
,
Mefford, Heather
,
Faivre, Laurence
,
Bodamer, Olaf
,
Chelly, Jamel
,
Isidor, Bertrand
,
Bahram, Seiamak
Published in
American journal of human genetics
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A pleiotropic recurrent dominant ITPR3 variant causes a complex multisystemic disease
by
Molitor, Anne
,
Lederle, Alexandre
,
Radosavljevic, Mirjana
,
Sapuru, Vinay
,
Zavorka Thomas, Megan E.
,
Yang, Jianying
,
Shirin, Mahsa
,
Collin-Bund, Virginie
,
Jerabkova-Roda, Katerina
,
Miao, Zhichao
,
Bernard, Alice
,
Rolli, Véronique
,
Grenot, Pierre
,
Castro, Carla Noemi
,
Rosenzwajg, Michelle
,
Lewis, Elyssa G.
,
Person, Richard
,
Esperón-Moldes, Uxía-Saraiva
,
Kaare, Milja
,
Nokelainen, Pekka T.
,
Batzir, Nurit Assia
,
Hoffer, Gal Zaks
,
Paul, Nicodème
,
Stemmelen, Tristan
,
Naegely, Lydie
,
Hanauer, Antoine
,
Bibi-Triki, Sabrina
,
Grün, Sarah
,
Jung, Sophie
,
Busnelli, Ignacio
,
Tripolszki, Kornelia
,
Al-Ali, Ruslan
,
Ordonez, Natalia
,
Bauer, Peter
,
Song, Eunkyung
,
Zajo, Kristin
,
Partida-Sanchez, Santiago
,
Robledo-Avila, Frank
,
Kumanovics, Attila
,
Louzoun, Yoram
,
Hirschler, Aurélie
,
Pichot, Angélique
,
Toker, Ori
,
Mejía, Cesar Andrés Muñoz
,
Parvaneh, Nima
,
Knapp, Esther
,
Hersh, Joseph H.
,
Kenney, Heather
,
Delmonte, Ottavia M.
,
Notarangelo, Luigi D.
,
Goetz, Jacky G.
,
Kahwash, Samir B.
,
Carapito, Christine
,
Bajwa, Rajinder P. S.
,
Thomas, Caroline
,
Ehl, Stephan
,
Isidor, Bertrand
,
Carapito, Raphael
,
Abraham, Roshini S.
,
Hite, Richard K.
,
Marcus, Nufar
,
Bertoli-Avella, Aida
,
Bahram, Seiamak
Published in
Science advances
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SurvMaximin: Robust federated approach to transporting survival risk prediction models
by
Wang, Xuan
,
Zhang, Harrison G.
,
Xiong, Xin
,
Hong, Chuan
,
Weber, Griffin M.
,
Brat, Gabriel A.
,
Bonzel, Clara-Lea
,
Luo, Yuan
,
Duan, Rui
,
Palmer, Nathan P.
,
Hutch, Meghan R.
,
Gutiérrez-Sacristán, Alba
,
Bellazzi, Riccardo
,
Chiovato, Luca
,
Cho, Kelly
,
Dagliati, Arianna
,
Estiri, Hossein
,
García-Barrio, Noelia
,
Griffier, Romain
,
Hanauer, David A.
,
Ho, Yuk-Lam
,
Holmes, John H.
,
Keller, Mark S.
,
Klann MEng, Jeffrey G.
,
L'Yi, Sehi
,
Lozano-Zahonero, Sara
,
Maidlow, Sarah E.
,
Makoudjou, Adeline
,
Malovini, Alberto
,
Moal, Bertrand
,
Moore, Jason H.
,
Morris, Michele
,
Mowery, Danielle L.
,
Murphy, Shawn N
,
Neuraz, Antoine
,
Yuan Ngiam, Kee
,
Omenn, Gilbert S.
,
Patel, Lav P.
,
Pedrera-Jiménez, Miguel
,
Prunotto, Andrea
,
Jebathilagam Samayamuthu, Malarkodi
,
Sanz Vidorreta, Fernando J
,
Schriver, Emily R.
,
Schubert, Petra
,
Serrano-Balazote, Pablo
,
South, Andrew M.
,
Tan, Amelia L.M.
,
Tan, Byorn W.L.
,
Tibollo, Valentina
,
Tippmann, Patric
,
Visweswaran, Shyam
,
Xia, Zongqi
,
Yuan, William
,
Zöller, Daniela
,
Kohane, Isaac S.
,
Avillach, Paul
,
Guo, Zijian
,
Cai, Tianxi
Published in
Journal of biomedical informatics
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SurvMaximin: Robust federated approach to transporting survival risk prediction models
by
Wang, Xuan
,
Zhang, Harrison
,
Xiong, Xin
,
Hong, Chuan
,
Weber, Griffin
,
Brat, Gabriel
,
Bonzel, Clara-Lea
,
Luo, Yuan
,
Duan, Rui
,
Palmer, Nathan
,
Hutch, Meghan
,
Gutiérrez-Sacristán, Alba
,
Bellazzi, Riccardo
,
Chiovato, Luca
,
Cho, Kelly
,
Dagliati, Arianna
,
Estiri, Hossein
,
García-Barrio, Noelia
,
Griffier, Romain
,
Hanauer, David
,
Ho, Yuk-Lam
,
Holmes, John
,
Keller, Mark
,
Klann Meng, Jeffrey
,
L'Yi, Sehi
,
Lozano-Zahonero, Sara
,
Maidlow, Sarah
,
Makoudjou, Adeline
,
Malovini, Alberto
,
Moal, Bertrand
,
Moore, Jason
,
Morris, Michele
,
Mowery, Danielle
,
Murphy, Shawn
,
Neuraz, Antoine
,
Yuan Ngiam, Kee
,
Omenn, Gilbert
,
Patel, Lav
,
Pedrera-Jiménez, Miguel
,
Prunotto, Andrea
,
Jebathilagam Samayamuthu, Malarkodi
,
Sanz Vidorreta, Fernando
,
Schriver, Emily
,
Schubert, Petra
,
Serrano-Balazote, Pablo
,
South, Andrew
,
Tan, Amelia L.M.
,
Tan, Byorn W.L.
,
Tibollo, Valentina
,
Tippmann, Patric
,
Visweswaran, Shyam
,
Xia, Zongqi
,
Yuan, William
,
Zöller, Daniela
,
Kohane, Isaac
,
Avillach, Paul
,
Guo, Zijian
,
Cai, Tianxi
Published in
Journal of biomedical informatics
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Neurological diagnoses in hospitalized COVID-19 patients associated with adverse outcomes: A multinational cohort study
by
Meghan R. Hutch
,
Jiyeon Son
,
Trang T. Le
,
Chuan Hong
,
Xuan Wang
,
Zahra Shakeri Hossein Abad
,
Michele Morris
,
Alba Gutiérrez-Sacristán
,
Jeffrey G. Klann
,
Anastasia Spiridou
,
Ashley Batugo
,
Riccardo Bellazzi
,
Vincent Benoit
,
Clara-Lea Bonzel
,
William A. Bryant
,
Lorenzo Chiudinelli
,
Kelly Cho
,
Priyam Das
,
Tomás González González
,
David A. Hanauer
,
Darren W. Henderson
,
Yuk-Lam Ho
,
Ne Hooi Will Loh
,
Adeline Makoudjou
,
Simran Makwana
,
Alberto Malovini
,
Bertrand Moal
,
Danielle L. Mowery
,
Antoine Neuraz
,
Malarkodi Jebathilagam Samayamuthu
,
Fernando J. Sanz Vidorreta
,
Emily R. Schriver
,
Petra Schubert
,
Jeffery Talbert
,
Amelia L. M. Tan
,
Byorn W. L. Tan
,
Bryce W. Q. Tan
,
Valentina Tibollo
,
Patric Tippman
,
Guillaume Verdy
,
William Yuan
,
Paul Avillach
,
Nils Gehlenborg
,
Gilbert S. Omenn
,
The Consortium for Clinical Characterization of COVID-19 by EHR (4CE)
,
Shyam Visweswaran
,
Tianxi Cai
,
Yuan Luo
,
Zongqi Xia
Published in
PLOS digital health
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Acute respiratory distress syndrome after SARS-CoV-2 infection on young adult population: International observational federated study based on electronic health records through the...
by
Bertrand Moal
,
Arthur Orieux
,
Thomas Ferté
,
Antoine Neuraz
,
Gabriel A Brat
,
Paul Avillach
,
Clara-Lea Bonzel
,
Tianxi Cai
,
Kelly Cho
,
Sébastien Cossin
,
Romain Griffier
,
David A Hanauer
,
Christian Haverkamp
,
Yuk-Lam Ho
,
Chuan Hong
,
Meghan R Hutch
,
Jeffrey G Klann
,
Trang T Le
,
Ne Hooi Will Loh
,
Yuan Luo
,
Adeline Makoudjou
,
Michele Morris
,
Danielle L Mowery
,
Karen L Olson
,
Lav P Patel
,
Malarkodi J Samayamuthu
,
Fernando J Sanz Vidorreta
,
Emily R Schriver
,
Petra Schubert
,
Guillaume Verdy
,
Shyam Visweswaran
,
Xuan Wang
,
Griffin M Weber
,
Zongqi Xia
,
William Yuan
,
Harrison G Zhang
,
Daniela Zöller
,
Isaac S Kohane
,
Consortium for Clinical Characterization of COVID-19 by EHR (4CE)
,
Alexandre Boyer
,
Vianney Jouhet
Published in
PloS one
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