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Early neurological impairment and severe anemia in a newborn with Pearson syndrome.
Published in:
2009
By:
- Morel, Anne-Sophie;
- Joris, Nadia;
- Meuli, Reto;
- Jacquemont, Sébastien;
- Ballhausen, Diana;
- Bonafé, Luisa;
- Fattet, Sarah;
- Tolsa, Jean-François;
- Jacquemont, Sébastien;
- Bonafé, Luisa;
- Tolsa, Jean-François
Publication type:
journal article
Impairment of executive cognitive functioning in males with fragile X-associated tremor/ataxia syndrome.
Published in:
2007
By:
- Grigsby, Jim;
- Brega, Angela G.;
- Leehey, Maureen A.;
- Goodrich, Glenn K.;
- Jacquemont, Sébastien;
- Loesch, Danuta Z.;
- Cogswell, Jennifer B.;
- Epstein, Jennifer;
- Wilson, Rebecca;
- Jardini, Tristan;
- Gould, Emma;
- Bennett, Rachael E.;
- Hessl, David;
- Cohen, Susannah;
- Cook, Kylee;
- Tassone, Flora;
- Hagerman, Paul J.;
- Hagerman, Randi J.;
- Jacquemont, Sébastien
Publication type:
journal article
Clinimetric Properties of the Fragile X‐associated Tremor Ataxia Syndrome Rating Scale.
Published in:
Movement Disorders Clinical Practice, 2019, v. 6, n. 2, p. 120, doi. 10.1002/mdc3.12708
By:
- Hall, Deborah A.;
- Stebbins, Glenn T.;
- Jacquemont, Sebastien;
- Berry‐Kravis, Elizabeth;
- Goetz, Christopher G.;
- Hagerman, Randi;
- Zhang, Lin;
- Leehey, Maureen A.
Publication type:
Article
Penetrance of the Fragile X-Associated Tremor/Ataxia Syndrome in a Premutation Carrier Population.
Published in:
JAMA: Journal of the American Medical Association, 2004, v. 291, n. 4, p. 460, doi. 10.1001/jama.291.4.460
By:
- Jacquemont, Sébastien;
- Hagerman, Randi J.;
- Leehey, Maureen A.;
- Hall, Deborah A.;
- Levine, Richard A.;
- Brunberg, James A.;
- Zhang, Lin;
- Jardini, Tristan;
- Gane, Louise W.;
- Harris, Susan W.;
- Herman, Kristin;
- Grigsby, James;
- Greco, Claudia M.;
- Berry-Kravis, Elizabeth;
- Tassone, Flora;
- Hagerman, Paul J.
Publication type:
Article
Dissecting autism and schizophrenia through neuroimaging genomics.
Published in:
2021
By:
- Moreau, Clara A;
- Raznahan, Armin;
- Bellec, Pierre;
- Chakravarty, Mallar;
- Thompson, Paul M;
- Jacquemont, Sebastien
Publication type:
journal article
Convergence and Divergence of Rare Genetic Disorders on Brain Phenotypes: A Review.
Published in:
2022
By:
- Raznahan, Armin;
- Won, Hyejung;
- Glahn, David C.;
- Jacquemont, Sébastien
Publication type:
journal article
Copy Number Variant Risk Scores Associated With Cognition, Psychopathology, and Brain Structure in Youths in the Philadelphia Neurodevelopmental Cohort.
Published in:
2022
By:
- Alexander-Bloch, Aaron;
- Huguet, Guillaume;
- Schultz, Laura M.;
- Huffnagle, Nicholas;
- Jacquemont, Sebastien;
- Seidlitz, Jakob;
- Saci, Zohra;
- Moore, Tyler M.;
- Bethlehem, Richard A. I.;
- Mollon, Josephine;
- Knowles, Emma K.;
- Raznahan, Armin;
- Merikangas, Alison;
- Chaiyachati, Barbara H.;
- Raman, Harshini;
- Schmitt, J. Eric;
- Barzilay, Ran;
- Calkins, Monica E.;
- Shinohara, Russel T.;
- Satterthwaite, Theodore D.
Publication type:
journal article
Deletion of Loss-of-Function-Intolerant Genes and Risk of 5 Psychiatric Disorders.
Published in:
2022
By:
- Wainberg, Michael;
- Merico, Daniele;
- Huguet, Guillaume;
- Zarrei, Mehdi;
- Jacquemont, Sebastien;
- Scherer, Stephen W.;
- Tripathy, Shreejoy J.
Publication type:
journal article
Measuring and Estimating the Effect Sizes of Copy Number Variants on General Intelligence in Community-Based Samples.
Published in:
2018
By:
- Huguet, Guillaume;
- Schramm, Catherine;
- Douard, Elise;
- Jiang, Lai;
- Labbe, Aurélie;
- Tihy, Frédérique;
- Mathonnet, Géraldine;
- Nizard, Sonia;
- Lemyre, Emmanuelle;
- Mathieu, Alexandre;
- Poline, Jean-Baptiste;
- Loth, Eva;
- Toro, Roberto;
- Schumann, Gunter;
- Conrod, Patricia;
- Pausova, Zdenka;
- Greenwood, Celia;
- Paus, Tomas;
- Bourgeron, Thomas;
- Jacquemont, Sébastien
Publication type:
journal article
The psychiatric phenotypes of 1q21 distal deletion and duplication.
Published in:
Translational Psychiatry, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41398-021-01226-9
By:
- Linden, Stefanie C.;
- Watson, Cameron J.;
- Smith, Jacqueline;
- Chawner, Samuel J. R. A.;
- Lancaster, Thomas M.;
- Evans, Ffion;
- Williams, Nigel;
- Skuse, David;
- Raymond, F. Lucy;
- Hall, Jeremy;
- Owen, Michael J.;
- Linden, David E. J.;
- Green-Snyder, LeeAnne;
- Chung, Wendy K.;
- Maillard, Anne M.;
- Jacquemont, Sébastien;
- van den Bree, Marianne B. M.
Publication type:
Article
The psychiatric phenotypes of 1q21 distal deletion and duplication.
Published in:
Translational Psychiatry, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41398-021-01226-9
By:
- Linden, Stefanie C.;
- Watson, Cameron J.;
- Smith, Jacqueline;
- Chawner, Samuel J. R. A.;
- Lancaster, Thomas M.;
- Evans, Ffion;
- Williams, Nigel;
- Skuse, David;
- Raymond, F. Lucy;
- Hall, Jeremy;
- Owen, Michael J.;
- Linden, David E. J.;
- Green-Snyder, LeeAnne;
- Chung, Wendy K.;
- Maillard, Anne M.;
- Jacquemont, Sébastien;
- van den Bree, Marianne B. M.
Publication type:
Article
Corrigendum: EEG Signal Complexity Is Reduced During Resting-State in Fragile X Syndrome.
Published in:
2022
By:
- Proteau-Lemieux, Mélodie;
- Knoth, Inga Sophia;
- Agbogba, Kristian;
- Côté, Valérie;
- Barlahan Biag, Hazel Maridith;
- Thurman, Angela John;
- Martin, Charles-Olivier;
- Bélanger, Anne-Marie;
- Rosenfelt, Cory;
- Tassone, Flora;
- Abbeduto, Leonard J.;
- Jacquemont, Sébastien;
- Hagerman, Randi;
- Bolduc, François;
- Hessl, David;
- Schneider, Andrea;
- Lippé, Sarah
Publication type:
Correction Notice
EEG Signal Complexity Is Reduced During Resting-State in Fragile X Syndrome.
Published in:
Frontiers in Psychiatry, 2021, v. 12, p. 1, doi. 10.3389/fpsyt.2021.716707
By:
- Proteau-Lemieux, Mélodie;
- Knoth, Inga Sophia;
- Agbogba, Kristian;
- Côté, Valérie;
- Barlahan Biag, Hazel Maridith;
- Thurman, Angela John;
- Martin, Charles-Olivier;
- Bélanger, Anne-Marie;
- Rosenfelt, Cory;
- Tassone, Flora;
- Abbeduto, Leonard J.;
- Jacquemont, Sébastien;
- Hagerman, Randi;
- Bolduc, François;
- Hessl, David;
- Schneider, Andrea;
- Lippé, Sarah
Publication type:
Article
Cover Image, Volume 173A, Number 2, February 2017.
Published in:
2017
By:
- Maussion, Gilles;
- Cruceanu, Cristiana;
- Rosenfeld, Jill A.;
- Bell, Scott C.;
- Jollant, Fabrice;
- Szatkiewicz, Jin;
- Collins, Ryan L.;
- Hanscom, Carrie;
- Kolobova, Ilaria;
- de Champfleur, Nicolas Menjot;
- Blumenthal, Ian;
- Chiang, Colby;
- Ota, Vanessa;
- Hultman, Christina;
- O'Dushlaine, Colm;
- McCarroll, Steve;
- Alda, Martin;
- Jacquemont, Sebastien;
- Ordulu, Zehra;
- Marshall, Christian R.
Publication type:
Other
Implication of LRRC4C and DPP6 in neurodevelopmental disorders.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 395, doi. 10.1002/ajmg.a.38021
By:
- Maussion, Gilles;
- Cruceanu, Cristiana;
- Rosenfeld, Jill A.;
- Bell, Scott C.;
- Jollant, Fabrice;
- Szatkiewicz, Jin;
- Collins, Ryan L.;
- Hanscom, Carrie;
- Kolobova, Ilaria;
- de Champfleur, Nicolas Menjot;
- Blumenthal, Ian;
- Chiang, Colby;
- Ota, Vanessa;
- Hultman, Christina;
- O'Dushlaine, Colm;
- McCarroll, Steve;
- Alda, Martin;
- Jacquemont, Sebastien;
- Ordulu, Zehra;
- Marshall, Christian R.
Publication type:
Article
Early-Onset Encephalopathy with Epilepsy Associated with a Novel Splice Site Mutation in SMC1A.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3076, doi. 10.1002/ajmg.a.37364
By:
- Lebrun, Nicolas;
- Lebon, Sébastien;
- Jeannet, Pierre‐Yves;
- Jacquemont, Sébastien;
- Billuart, Pierre;
- Bienvenu, Thierry
Publication type:
Article
Spatial control of nucleoporin condensation by fragile X‐related proteins.
Published in:
EMBO Journal, 2020, v. 39, n. 20, p. 1, doi. 10.15252/embj.2020104467
By:
- Agote‐Aran, Arantxa;
- Schmucker, Stephane;
- Jerabkova, Katerina;
- Jmel Boyer, Inès;
- Berto, Alessandro;
- Pacini, Laura;
- Ronchi, Paolo;
- Kleiss, Charlotte;
- Guerard, Laurent;
- Schwab, Yannick;
- Moine, Hervé;
- Mandel, Jean‐Louis;
- Jacquemont, Sebastien;
- Bagni, Claudia;
- Sumara, Izabela
Publication type:
Article
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.
Published in:
Nature Genetics, 2012, v. 44, n. 1, p. 85, doi. 10.1038/ng.1016
By:
- Le Goff, Carine;
- Mahaut, Clémentine;
- Abhyankar, Avinash;
- Le Goff, Wilfried;
- Serre, Valérie;
- Afenjar, Alexandra;
- Destrée, Anne;
- di Rocco, Maja;
- Héron, Delphine;
- Jacquemont, Sébastien;
- Marlin, Sandrine;
- Simon, Marleen;
- Tolmie, John;
- Verloes, Alain;
- Casanova, Jean-Laurent;
- Munnich, Arnold;
- Cormier-Daire, Valérie
Publication type:
Article
Mutations in CEP57 cause mosaic variegated aneuploidy syndrome.
Published in:
Nature Genetics, 2011, v. 43, n. 6, p. 527, doi. 10.1038/ng.822
By:
- Snape, Katie;
- Hanks, Sandra;
- Ruark, Elise;
- Barros-Núñez, Patricio;
- Elliott, Anna;
- Murray, Anne;
- Lane, Andrew H.;
- Shannon, Nora;
- Callier, Patrick;
- Chitayat, David;
- Clayton-Smith, Jill;
- FitzPatrick, David R;
- Gisselsson, David;
- Jacquemont, Sebastien;
- Asakura-Hay, Keiko;
- Micale, Mark A.;
- Tolmie, John;
- Turnpenny, Peter D.;
- Wright, Michael;
- Douglas, Jenny
Publication type:
Article
Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis.
Published in:
Nature Genetics, 2011, v. 43, n. 4, p. 306, doi. 10.1038/ng.778
By:
- Isidor, ,13Bertrand;
- Lindenbaum, Pierre;
- Pichon, Olivier;
- Bézieau, Stéphane;
- Dina, Christian;
- Jacquemont, Sébastien;
- Martin-Coignard, Dominique;
- Thauvin-Robinet, Christel;
- Le Merrer, Martine;
- Mandel, Jean-Louis;
- David, Albert;
- Faivre, Laurence;
- Cormier-Daire, Valérie;
- Redon, Richard;
- Le Caignec, Cédric
Publication type:
Article
Conditional canonical correlation estimation based on covariates with random forests.
Published in:
Bioinformatics, 2021, v. 37, n. 17, p. 2714, doi. 10.1093/bioinformatics/btab158
By:
- Alakuş, Cansu;
- Larocque, Denis;
- Jacquemont, Sébastien;
- Barlaam, Fanny;
- Martin, Charles-Olivier;
- Agbogba, Kristian;
- Lippé, Sarah;
- Labbe, Aurélie
Publication type:
Article
Pervasive alterations of intra-axonal volume and network organization in young children with a 16p11.2 deletion.
Published in:
Translational Psychiatry, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41398-024-02810-5
By:
- Maillard, Anne M.;
- Romascano, David;
- Villalón-Reina, Julio E.;
- Moreau, Clara A.;
- Almeida Osório, Joana M.;
- Richetin, Sonia;
- Junod, Vincent;
- Yu, Paola;
- Misic, Bratislav;
- Thompson, Paul M.;
- Fornari, Eleonora;
- Gygax, Marine Jequier;
- Jacquemont, Sébastien;
- Chabane, Nadia;
- Rodríguez-Herreros, Borja
Publication type:
Article
Rare Genomic Structural Variants in Complex Disease: Lessons from the Replication of Associations with Obesity.
Published in:
PLoS ONE, 2013, v. 8, n. 3, p. 1, doi. 10.1371/journal.pone.0058048
By:
- Walters, Robin G.;
- Coin, Lachlan J. M.;
- Ruokonen, Aimo;
- de Smith, Adam J.;
- El-Sayed Moustafa, Julia S.;
- Jacquemont, Sebastien;
- Elliott, Paul;
- Esko, Tõnu;
- Hartikainen, Anna-Liisa;
- Laitinen, Jaana;
- Männik, Katrin;
- Martinet, Danielle;
- Meyre, David;
- Nauck, Matthias;
- Schurmann, Claudia;
- Sladek, Rob;
- Thorleifsson, Gudmar;
- Thorsteinsdóttir, Unnur;
- Valsesia, Armand;
- Waeber, Gerard
Publication type:
Article
A Comparative Phenotypic Study of Kallmann Syndrome Patients Carrying Monoallelic and Biallelic Mutations in the Prokineticin 2 or Prokineticin Receptor 2 Genes.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2010, v. 95, n. 2, p. 659, doi. 10.1210/jc.2009-0843
By:
- Sarfati, Julie;
- Guiochon-Mantel, Anne;
- Rondard, Philippe;
- Arnulf, Isabelle;
- Garcia-Piñero, Alfons;
- Wolczynski, Slawomir;
- Brailly-Tabard, Sylvie;
- Bidet, Maud;
- Ramos-Arroyo, Maria;
- Mathieu, Michèle;
- Lienhardt-Roussie, Anne;
- Morgan, Graeme;
- Turki, Zinet;
- Bremont, Catherine;
- Lespinasse, James;
- Boullay, Hélène Du;
- Chabbert-Buffet, Nathalie;
- Jacquemont, Sébastien;
- Reach, Gérard;
- De Talence, Nicole
Publication type:
Article
Clinical and molecular genetic features of ARC syndrome.
Published in:
Human Genetics, 2006, v. 120, n. 3, p. 396, doi. 10.1007/s00439-006-0232-z
By:
- Gissen, Paula;
- Tee, Louise;
- Johnson, Colin A.;
- Genin, Emmanuelle;
- Caliebe, Almuth;
- Chitayat, David;
- Clericuzio, Carol;
- Denecke, Jonas;
- Di Rocco, Maja;
- Fischler, Björn;
- FitzPatrick, David;
- García-Cazorla, Angeles;
- Guyot, Delphine;
- Jacquemont, Sebastien;
- Koletzko, Sibylle;
- Leheup, Bruno;
- Mandel, Hanna;
- Sanseverino, Maria Teresa Viera;
- Houwen, Roderick H. J.;
- McKiernan, Patrick J.
Publication type:
Article
Author Correction: Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts.
Published in:
2023
By:
- Giannuzzi, Giuliana;
- Chatron, Nicolas;
- Mannik, Katrin;
- Auwerx, Chiara;
- Pradervand, Sylvain;
- Willemin, Gilles;
- Hoekzema, Kendra;
- Nuttle, Xander;
- Chrast, Jacqueline;
- Sadler, Marie C.;
- Porcu, Eleonora;
- Männik, Katrin;
- Sanlaville, Damien;
- Schluth-Bolard, Caroline;
- Le Caignec, Cédric;
- Nizon, Mathilde;
- Martin, Sandra;
- Jacquemont, Sébastien;
- Bottani, Armand;
- Gérard, Marion
Publication type:
Correction Notice
Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts.
Published in:
NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00308-x
By:
- Giannuzzi, Giuliana;
- Chatron, Nicolas;
- Mannik, Katrin;
- Auwerx, Chiara;
- Pradervand, Sylvain;
- Willemin, Gilles;
- Hoekzema, Kendra;
- Nuttle, Xander;
- Chrast, Jacqueline;
- Sadler, Marie C.;
- Porcu, Eleonora;
- 16p11.2 Consortium;
- Männik, Katrin;
- Sanlaville, Damien;
- Schluth-Bolard, Caroline;
- Le Caignec, Cédric;
- Nizon, Mathilde;
- Martin, Sandra;
- Jacquemont, Sébastien;
- Bottani, Armand
Publication type:
Article
Using developmental regression to reorganize the clinical importance of autistic atypicalities.
Published in:
Translational Psychiatry, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41398-022-02263-8
By:
- Gagnon, David;
- Zeribi, Abderrahim;
- Douard, Élise;
- Courchesne, Valérie;
- Huguet, Guillaume;
- Jacquemont, Sébastien;
- Loum, Mor Absa;
- Mottron, Laurent
Publication type:
Article
Investigating the contributions of circadian pathway and insomnia risk genes to autism and sleep disturbances.
Published in:
Translational Psychiatry, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41398-022-02188-2
By:
- Tesfaye, Rackeb;
- Huguet, Guillaume;
- Schmilovich, Zoe;
- Renne, Thomas;
- Loum, Mor Absa;
- Douard, Elise;
- Saci, Zohra;
- Jean-Louis, Martineau;
- Martineau, Jean Luc;
- Whelan, Rob;
- Desrivieres, Sylvane;
- Heinz, Andreas;
- Schumann, Gunter;
- Hayward, Caroline;
- Elsabbagh, Mayada;
- Jacquemont, Sebastien
Publication type:
Article
Auditory repetition suppression alterations in relation to cognitive functioning in fragile X syndrome: a combined EEG and machine learning approach.
Published in:
Journal of Neurodevelopmental Disorders, 2018, v. 10, p. 1, doi. 10.1186/s11689-018-9223-3
By:
- Knoth, Inga Sophia;
- Lajnef, Tarek;
- Rigoulot, Simon;
- Lacourse, Karine;
- Vannasing, Phetsamone;
- Michaud, Jacques L.;
- Jacquemont, Sébastien;
- Major, Philippe;
- Jerbi, Karim;
- Lippé, Sarah
Publication type:
Article
Myhre and LAPS syndromes: clinical and molecular review of 32 patients.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1272, doi. 10.1038/ejhg.2013.288
By:
- Michot, Caroline;
- Le Goff, Carine;
- Mahaut, Clémentine;
- Afenjar, Alexandra;
- Brooks, Alice S;
- Campeau, Philippe M;
- Destree, Anne;
- Di Rocco, Maja;
- Donnai, Dian;
- Hennekam, Raoul;
- Heron, Delphine;
- Jacquemont, Sébastien;
- Kannu, Peter;
- Lin, Angela E;
- Manouvrier-Hanu, Sylvie;
- Mansour, Sahar;
- Marlin, Sandrine;
- McGowan, Ruth;
- Murphy, Helen;
- Raas-Rothschild, Annick
Publication type:
Article
Myhre and LAPS syndromes: clinical and molecular review of 32 patients.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1340, doi. 10.1038/ejhg.2014.182
By:
- Michot, Caroline;
- Le Goff, Carine;
- Mahaut, Clémentine;
- Afenjar, Alexandra;
- Brooks, Alice S;
- Campeau, Philippe M;
- Destree, Anne;
- Di Rocco, Maja;
- Donnai, Dian;
- Hennekam, Raoul;
- Heron, Delphine;
- Jacquemont, Sébastien;
- Kannu, Peter;
- Lin, Angela E;
- Manouvrier-Hanu, Sylvie;
- Mansour, Sahar;
- Marlin, Sandrine;
- McGowan, Ruth;
- Murphy, Helen;
- Raas-Rothschild, Annick
Publication type:
Article
Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 9, p. 1, doi. 10.1038/ejhg.2011.55
By:
- Jacquemont, Sebastien;
- Birnbaum, Stefanie;
- Redler, Silke;
- Steinbach, Peter;
- Biancalana, Valérie
Publication type:
Article
The phenotype of recurrent 10q22q23 deletions and duplications.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 4, p. 400, doi. 10.1038/ejhg.2010.211
By:
- van Bon, Bregje W. M.;
- Balciuniene, Jorune;
- Fruhman, Gary;
- Nagamani, Sandesh Chakravarthy Sreenath;
- Broome, Diane L.;
- Cameron, Elizabeth;
- Martinet, Danielle;
- Roulet, Eliane;
- Jacquemont, Sebastien;
- Beckmann, Jacques S;
- Irons, Mira;
- Potocki, Lorraine;
- Lee, Brendan;
- Sau Wai Cheung;
- Patel, Ankita;
- Bellini, Melissa;
- Selicorni, Angelo;
- Ciccone, Roberto;
- Silengo, Margherita;
- Vetro, Annalisa
Publication type:
Article
Biallelic mutations in the prokineticin-2 gene in two sporadic cases of Kallmann syndrome.
Published in:
European Journal of Human Genetics, 2008, v. 16, n. 7, p. 865, doi. 10.1038/ejhg.2008.15
By:
- Leroy, Chrystel;
- Fouveaut, Corinne;
- Leclercq, Sandrine;
- Jacquemont, Sébastien;
- Boullay, Hélène Du;
- Lespinasse, James;
- Delpech, Marc;
- Dupont, Jean-Michel;
- Hardelin, Jean-Pierre;
- Dodé, Catherine
Publication type:
Article
Building genetic medicine, a tale of two countries: Building Genetic Medicine.
Published in:
2008
By:
- Jacquemont, Sébastien
Publication type:
Book Review
Screening for FXTAS.
Published in:
European Journal of Human Genetics, 2005, v. 13, n. 1, p. 2, doi. 10.1038/sj.ejhg.5201318
By:
- Jacquemont, Sébastien
Publication type:
Article
Robust thalamic nuclei segmentation method based on local diffusion magnetic resonance properties.
Published in:
Brain Structure & Function, 2017, v. 222, n. 5, p. 2203, doi. 10.1007/s00429-016-1336-4
By:
- Battistella, Giovanni;
- Najdenovska, Elena;
- Maeder, Philippe;
- Ghazaleh, Naghmeh;
- Daducci, Alessandro;
- Thiran, Jean-Philippe;
- Jacquemont, Sébastien;
- Tuleasca, Constantin;
- Levivier, Marc;
- Bach Cuadra, Meritxell;
- Fornari, Eleonora
Publication type:
Article
Copy Number Variation and Structural Genomic Findings in 116 Cases of Sudden Unexplained Death between 1 and 28 Months of Age.
Published in:
Advanced Genetics, 2023, v. 4, n. 1, p. 1, doi. 10.1002/ggn2.202200012
By:
- Brownstein, Catherine A.;
- Douard, Elise;
- Haynes, Robin L.;
- Koh, Hyun Yong;
- Haghighi, Alireza;
- Keywan, Christine;
- Martin, Bree;
- Alexandrescu, Sanda;
- Haas, Elisabeth A.;
- Vargas, Sara O.;
- Wojcik, Monica H.;
- Jacquemont, Sébastien;
- Poduri, Annapurna H.;
- Goldstein, Richard D.;
- Holm, Ingrid A.
Publication type:
Article
Correction: Psychiatric disorders in children with 16p11.2 deletion and duplication.
Published in:
Translational Psychiatry, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41398-019-0441-6
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Psychiatric disorders in children with 16p11.2 deletion and duplication.
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Translational Psychiatry, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41398-018-0339-8
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Sex differences in brain plasticity: a new hypothesis for sex ratio bias in autism.
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Molecular Autism, 2015, v. 6, n. 1, p. 1, doi. 10.1186/s13229-015-0024-1
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Epigenotype–genotype–phenotype correlations in SETD1A and SETD2 chromatin disorders.
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Human Molecular Genetics, 2023, v. 32, n. 22, p. 3123, doi. 10.1093/hmg/ddad079
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Tinkering with the vasopressin pathway in autism.
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Science Translational Medicine, 2019, v. 11, n. 491, p. N.PAG, doi. 10.1126/scitranslmed.aax7315
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Mavoglurant in fragile X syndrome: Results of two randomized, double-blind, placebo-controlled trials.
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Science Translational Medicine, 2016, v. 8, n. 321, p. 1, doi. 10.1126/scitranslmed.aab4109
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Rationale, design, and methods for Canadian alliance for healthy hearts and minds cohort study (CAHHM) - a Pan Canadian cohort study.
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Mitochondrial tRNA<sup>Leu(UUR)</sup> mutation m.3302A > G presenting as childhood‐onset severe myopathy: threshold determination through segregation study.
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Protein synthesis levels are increased in a subset of individuals with fragile X syndrome.
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Human Molecular Genetics, 2018, v. 27, n. 21, p. 3825, doi. 10.1093/hmg/ddy291
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Protein synthesis levels are increased in a subset of individuals with fragile X syndrome.
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Human Molecular Genetics, 2018, v. 27, n. 12, p. 2039, doi. 10.1093/hmg/ddy099
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Cardiovascular risk scoring and magnetic resonance imaging detected subclinical cerebrovascular disease.
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European Heart Journal - Cardiovascular Imaging, 2020, v. 21, n. 6, p. 692, doi. 10.1093/ehjci/jez226
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- Le, Nhu;
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- Tardif, Jean-Claude;
- Marcotte, Francois;
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