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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1997 2
1998 1
2001 2
2003 2
2004 2
2005 6
2006 1
2007 2
2008 4
2009 4
2010 6
2011 5
2012 11
2013 9
2014 12
2015 9
2016 14
2017 13
2018 11
2019 18
2020 22
2021 10
2022 2
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141 results
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Page 1
Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology.
Elouej S, Harhouri K, Le Mao M, Baujat G, Nampoothiri S, Kayserili H, Menabawy NA, Selim L, Paneque AL, Kubisch C, Lessel D, Rubinsztajn R, Charar C, Bartoli C, Airault C, Deleuze JF, Rötig A, Bauer P, Pereira C, Loh A, Escande-Beillard N, Muchir A, Martino L, Gruenbaum Y, Lee SH, Manivet P, Lenaers G, Reversade B, Lévy N, De Sandre-Giovannoli A. Elouej S, et al. Among authors: baujat g. Nat Commun. 2020 Sep 11;11(1):4589. doi: 10.1038/s41467-020-18146-9. Nat Commun. 2020. PMID: 32917887 Free PMC article.
Achondroplasia.
Baujat G, Legeai-Mallet L, Finidori G, Cormier-Daire V, Le Merrer M. Baujat G, et al. Best Pract Res Clin Rheumatol. 2008 Mar;22(1):3-18. doi: 10.1016/j.berh.2007.12.008. Best Pract Res Clin Rheumatol. 2008. PMID: 18328977 Review.
Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.
D'Angelo D, Lebon S, Chen Q, Martin-Brevet S, Snyder LG, Hippolyte L, Hanson E, Maillard AM, Faucett WA, Macé A, Pain A, Bernier R, Chawner SJ, David A, Andrieux J, Aylward E, Baujat G, Caldeira I, Conus P, Ferrari C, Forzano F, Gérard M, Goin-Kochel RP, Grant E, Hunter JV, Isidor B, Jacquette A, Jønch AE, Keren B, Lacombe D, Le Caignec C, Martin CL, Männik K, Metspalu A, Mignot C, Mukherjee P, Owen MJ, Passeggeri M, Rooryck-Thambo C, Rosenfeld JA, Spence SJ, Steinman KJ, Tjernagel J, Van Haelst M, Shen Y, Draganski B, Sherr EH, Ledbetter DH, van den Bree MB, Beckmann JS, Spiro JE, Reymond A, Jacquemont S, Chung WK; Cardiff University Experiences of Children With Copy Number Variants (ECHO) Study; 16p11.2 European Consortium; Simons Variation in Individuals Project (VIP) Consortium. D'Angelo D, et al. Among authors: baujat g. JAMA Psychiatry. 2016 Jan;73(1):20-30. doi: 10.1001/jamapsychiatry.2015.2123. JAMA Psychiatry. 2016. PMID: 26629640 Free PMC article.
Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.
Tatton-Brown K, Douglas J, Coleman K, Baujat G, Cole TR, Das S, Horn D, Hughes HE, Temple IK, Faravelli F, Waggoner D, Turkmen S, Cormier-Daire V, Irrthum A, Rahman N; Childhood Overgrowth Collaboration. Tatton-Brown K, et al. Among authors: baujat g. Am J Hum Genet. 2005 Aug;77(2):193-204. doi: 10.1086/432082. Epub 2005 Jun 7. Am J Hum Genet. 2005. PMID: 15942875 Free PMC article.
Sotos syndrome.
Baujat G, Cormier-Daire V. Baujat G, et al. Orphanet J Rare Dis. 2007 Sep 7;2:36. doi: 10.1186/1750-1172-2-36. Orphanet J Rare Dis. 2007. PMID: 17825104 Free PMC article. Review.
Craniosynostosis and metabolic bone disorder. A review.
Di Rocco F, Rothenbuhler A, Cormier Daire V, Bacchetta J, Adamsbaum C, Baujat G, Rossi M, Lingart A. Di Rocco F, et al. Among authors: baujat g. Neurochirurgie. 2019 Nov;65(5):258-263. doi: 10.1016/j.neuchi.2019.09.008. Epub 2019 Sep 25. Neurochirurgie. 2019. PMID: 31562881 Review.
Ellis-van Creveld syndrome.
Baujat G, Le Merrer M. Baujat G, et al. Orphanet J Rare Dis. 2007 Jun 4;2:27. doi: 10.1186/1750-1172-2-27. Orphanet J Rare Dis. 2007. PMID: 17547743 Free PMC article. Review.
Craniosynostosis and hypophosphatasia.
Di Rocco F, Baujat G, Cormier-Daire V, Rothenbuhler A, Linglart A. Di Rocco F, et al. Among authors: baujat g. Arch Pediatr. 2017 May;24(5S2):5S89-5S92. doi: 10.1016/S0929-693X(18)30022-8. Arch Pediatr. 2017. PMID: 29405940
Special considerations for clinical trials in fibrodysplasia ossificans progressiva (FOP).
Hsiao EC, Di Rocco M, Cali A, Zasloff M, Al Mukaddam M, Pignolo RJ, Grunwald Z, Netelenbos C, Keen R, Baujat G, Brown MA, Cho TJ, De Cunto C, Delai P, Haga N, Morhart R, Scott C, Zhang K, Diecidue RJ, Friedman CS, Kaplan FS, Eekhoff EMW. Hsiao EC, et al. Among authors: baujat g. Br J Clin Pharmacol. 2019 Jun;85(6):1199-1207. doi: 10.1111/bcp.13777. Epub 2018 Nov 6. Br J Clin Pharmacol. 2019. PMID: 30281842 Free PMC article. Review.
Sleep-disordered breathing in children with pycnodysostosis.
Khirani S, Amaddeo A, Baujat G, Michot C, Couloigner V, Pinto G, Arnaud E, Picard A, Cormier-Daire V, Fauroux B. Khirani S, et al. Among authors: baujat g. Am J Med Genet A. 2020 Jan;182(1):122-129. doi: 10.1002/ajmg.a.61393. Epub 2019 Nov 3. Am J Med Genet A. 2020. PMID: 31680459
141 results