Toutes les publications

Find a publication

Finding patients using similarity measures in a rare diseases-oriented clinical data warehouse: Dr. Warehouse and the needle in the needle stack.

Garcelon N. Garcelon, N., Neuraz, A., Benoit, V., Salomon, R., Kracker, S., Suarez, F., Bahi-Buisson, N., Hadj-Rabia, S., Fischer, A., Munnich, A., Burgun, A.

Journal of Biomedical Informatics. 2017 Volume 73, September 2017, Pages 51-61.


Improving a full-text search engine: the importance of negation detection and family history context to identify cases in a biomedical data warehouse.

Garcelon N. Garcelon, N., Neuraz, A., Benoit, V., Salomon, R., Burgun, A.

J Am Med Inform Assoc. 2017 24(3):607-613.


Single-cell analysis identifies cellular markers of the HIV permissive cell.

RATO S, RAUSELL A, MUNOZ M, TELENTI A, CIUFFI A.

PLoS Pathog. 2017 13(10):e1006678.


Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects

Simons M Rujano MA, Cannata Serio M, Panasyuk G, Péanne R, Reunert J, Rymen D, Hauser V, Park JH, Freisinger P, Souche E, Guida MC, Maier EM, Wada Y, Jäger S, Krogan NJ, Kretz O, Nobre S, Garcia P, Quelhas D, Bird TD, Raskind WH, Schwake M, Duvet S, Foulquier F, Matthijs G, Marquardt T, Simons M (corresponding author)

Journal of Experimental Medicine, 2017 214(12):3707-3729.


WDR81 mutations cause microlissencephaly and microcephaly and impair mitotic progression in neural progenitors

Bahi-Buisson N, Cavallin M, Rujano MA, Bednarek N, Medina-Cano D, Bernabe Gelot A, Drunat S, Maillard C, Garfa-Traore M, Bole C, Nitschké P, Beneteau C, Besnard T, Cogné B, Eveillard M, Kuster A, Poirier K, Verloes A, Martinovic J, Bidat L, Rio M, Lyonnet S, Reilly ML, Boddaert N, Jenneson-Liver M, Motte J, Doco-Fenzy M, Chelly J, Attie-Bitach T, Simons M, Cantagrel V, Passemard S, Baffet A, Thomas S

Brain, 2017 140(10):2597-2609 (2017).


SGPL1 mutations cause nephrosis with ichthyosis and adrenal insufficiency

Hildebrandt H, Lovric S, Goncalves S, Gee HY, Oskouian B, Srinivas H, Choi WI, Shril S, Ashraf S, Tan W, Rao J, Airik M, Schapiro D, Braun DA, Sadowski CE, Widmeier E, Jobst-Schwan T, Schmidt JM, Girik V, Capitani G, Suh JH, Lachaussée N, Arrondel C, Patat J, Gribouval O, Furlano M, Boyer O, Schmitt A, Vuiblet V, Hashmi S, Wilcken R, Bernier FP, Innes AM, Parboosingh JS, Lamont RE, Midgley JP, Wright N, Majewski J, Zenker M, Schaefer F, Kuss N, Greil J, Giese T, Schwarz K, Catheline V, Schanze D, Franke I, Sznajer Y, Truant AS, Adams B, Désir J, Biemann R, Pei Y, Ars E, Lloberas N, Madrid A, Dharnidharka VR, Connolly AM, Willing MC, Cooper MA, Lifton RP, Simons M, Riezman H, Antignac C, Saba J

Journal of Clinical Investigation, 2017 127, 912-928


Targeting mTOR Signaling Can Prevent the Progression of FSGS

Huber TB Zschiedrich S, Bork T, Liang W, Wanner N, Eulenbruch K, Munder S, Hartleben B, Kretz O, Gerber S, Simons M, Viau A, Burtin M, Wei C, Reiser J, Herbach N, Rastaldi MP, Cohen CD, Tharaux PL, Terzi F, Walz G, Gödel M

J Am Soc Nephrol. 2017 28(7):2144-2157.


Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

Hildebrandt F. Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W, Gribouval O, Boyer O, Revy P, Jobst-Schwan T, Schmidt JM, Lawson JA, Schanze D, Ashraf S, Ullmann JFP, Hoogstraten CA, Boddaert N, Collinet B, Martin G, Liger D, Lovric S, Furlano M, Guerrera IC, Sanchez-Ferras O, Hu JF, Boschat AC, Sanquer S, Menten B, Vergult S, De Rocker N, Airik M, Hermle T, Shril S, Widmeier E, Gee HY, Choi WI, Sadowski CE, Pabst WL, Warejko JK, Daga A, Basta T, Matejas V, Scharmann K, Kienast SD, Behnam B, Beeson B, Begtrup A, Bruce M, Ch'ng GS, Lin SP, Chang JH, Chen CH, Cho MT, Gaffney PM, Gipson PE, Hsu CH, Kari JA, Ke YY, Kiraly-Borri C, Lai WM, Lemyre E, Littlejohn RO, Masri A, Moghtaderi M, Nakamura K, Ozaltin F, Praet M, Prasad C, Prytula A, Roeder ER, Rump P, Schnur RE, Shiihara T, Sinha MD, Soliman NA, Soulami K, Sweetser DA, Tsai WH, Tsai JD, Topaloglu R, Vester U, Viskochil DH, Vatanavicharn N, Waxler JL, Wierenga KJ, Wolf MTF, Wong SN, Leidel SA, Truglio G, Dedon PC, Poduri A, Mane S, Lifton RP, Bouchard M, Kannu P, Chitayat D, Magen D, Callewaert B, van Tilbeurgh H, Zenker M, Antignac C

Nat Genet. 2017 doi: 10.1038/ng.3933


BMP signaling regulates satellite cell dependent postnatal muscle growth

Stantzou, A, A, Schirwis, E, Swist, S, Alonso-Martin, S, Polydorou, I, Zarrouki, F, Mouisel, E, Beley, C, Julien, A, Le Grand, F, Garcia, L, Colnot, C, Birchmeier, C, Braun, T, Schuelke, M, Relaix, F and Amthor, H.

Developpment 2017 144(15): 2737-47


Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency.

Lovric S, Goncalves S, Gee HY, Oskouian B, Srinivas H, Choi WI, Shril S, Ashraf S, Tan W, Rao J, Airik M, Schapiro D, Braun DA, Sadowski CE, Widmeier E, Jobst-Schwan T, Schmidt JM, Girik V, Capitani G, Suh JH, Lachaussée N, Arrondel C, Patat J, Gribouval O, Furlano M, Boyer O, Schmitt A, Vuiblet V, Hashmi S, Wilcken R, Bernier FP, Innes AM, Parboosingh JS, Lamont RE, Midgley JP, Wright N, Majewski J, Zenker M, Schaefer F, Kuss N, Greil J, Giese T, Schwarz K, Catheline V, Schanze D, Franke I, Sznajer Y, Truant AS, Adams B, Désir J, Biemann R, Pei Y, Ars E, Lloberas N, Madrid A, Dharnidharka VR, Connolly AM, Willing MC, Cooper MA, Lifton RP, Simons M, Riezman H, Antignac C, Saba JD, Hildebrandt F.

J Clin Invest. 2017 127(3):912-928.


Imagine's 400 faces

See More