List of Publications

Johnson B v., Kumar R, Oishi S, Alexander S, Kasherman M, Vega MS, Ivancevic A, Gardner A, Domingo D, Corbett M, Parnell E, Yoon S, Oh T, Lines M, Lefroy H, Kini U, van Allen M, Grønborg S, Mercier S, Küry S, Bézieau S, Pasquier L, Raynaud M, Afenjar A, Billette de Villemeur T, Keren B, Désir J, van Maldergem L, Marangoni M, Dikow N, Koolen DA, VanHasselt PM, Weiss M, Zwijnenburg P, Sa J, Reis CF, López-Otín C, Santiago-Fernández O, Fernández-Jaén A, Rauch A, Steindl K, Joset P, Goldstein A, Madan-Khetarpal S, Infante E, Zackai E, Mcdougall C, Narayanan V, Ramsey K, Mercimek-Andrews S, Pena L, Shashi V, Schoch K, Sullivan JA, Pinto e Vairo F, Pichurin PN, Ewing SA, Barnett SS, Klee EW, Perry MS, Koenig MK, Keegan CE, Schuette JL, Asher S, Perilla-Young Y, Smith LD, Rosenfeld JA, Bhoj E, Kaplan P, Li D, Oegema R, van Binsbergen E, van der Zwaag B, Smeland MF, Cutcutache I, Page M, Armstrong M, Lin AE, Steeves MA, Hollander N den, Hoffer MJV, Reijnders MRF, Demirdas S, Koboldt DC, Bartholomew D, Mosher TM, Hickey SE, Shieh C, Sanchez-Lara PA, Graham JM, Tezcan K, Schaefer GB, Danylchuk NR, Asamoah A, Jackson KE, Yachelevich N, Au M, Pérez-Jurado LA, Kleefstra T, Penzes P, Wood SA, Burne T, Pierson TM, Piper M, Gécz J, Jolly LA, Pena L, Shashi V, Schoch K, Sullivan JA, Acosta MT, Adams DR, Aday A, Alejandro ME, Allard P, Ashley EA, Azamian MS, Bacino CA, Bademci G, Baker E, Balasubramanyam A, Baldridge D, Barbouth D, Batzli GF, Beggs AH, Bellen HJ, Bernstein JA, Berry GT, Bican A, Bick DP, Birch CL, Bivona S, Bonnenmann C, Bonner D, Boone BE, Bostwick BL, Briere LC, Brokamp E, Brown DM, Brush M, Burke EA, Burrage LC, Butte MJ, Carrasquillo O, Peter Chang TC, Chao H-T, Clark GD, Coakley TR, Cobban LA, Cogan JD, Cole FS, Colley HA, Cooper CM, Cope H, Craigen WJ, D’Souza P, Dasari S, Davids M, Davidson JM, Dayal JG, Dell’Angelica EC, Dhar SU, Dorrani N, Dorset DC, Douine ED, Draper DD, Dries AM, Duncan L, Eckstein DJ, Emrick LT, Eng CM, Enns GM, Esteves C, Estwick T, Fernandez L, Ferreira C, Fieg EL, Fisher PG, Fogel BL, Forghani I, Friedman ND, Gahl WA, Godfrey RA, Goldman AM, Goldstein DB, Gourdine J-PF, Grajewski A, Groden CA, Gropman AL, Haendel M, Hamid R, Hanchard NA, High F, Holm IA, Hom J, Huang A, Huang Y, Isasi R, Jamal F, Jiang Y, Johnston JM, Jones AL, Karaviti L, Kelley EG, Koeller DM, Kohane IS, Kohler JN, Krakow D, Krasnewich DM, Korrick S, Koziura M, Krier JB, Kyle JE, Lalani SR, Lam B, Lanpher BC, Lanza IR, Lau CC, Lazar J, LeBlanc K, Lee BH, Lee H, Levitt R, Levy SE, Lewis RA, Lincoln SA, Liu P, Liu XZ, Loo SK, Loscalzo J, Maas RL, Macnamara EF, MacRae CA, Maduro V v., Majcherska MM, Malicdan MC v., Mamounas LA, Manolio TA, Markello TC, Marom R, Martin MG, Martínez-Agosto JA, Marwaha S, May T, McCauley J, McConkie-Rosell A, McCormack CE, McCray AT, Merker JD, Metz TO, Might M, Morava-Kozicz E, Moretti PM, Morimoto M, Mulvihill JJ, Murdock DR, Nath A, Nelson SF, Newberry JS, Newman JH, Nicholas SK, Novacic D, Oglesbee D, Orengo JP, Pak S, Pallais JC, Palmer CGS, Papp JC, Parker NH, Phillips JA, Posey JE, Postlethwait JH, Potocki L, Pusey BN, Renteri G, Reuter CM, Rives L, Robertson AK, Rodan LH, Rosenfeld JA, Rowley RK, Sacco R, Sampson JB, Samson SL, Saporta M, Schaechter J, Schedl T, Scott DA, Shakachite L, Sharma P, Shields K, Shin J, Signer R, Sillari CH, Silverman EK, Sinsheimer JS, Smith KS, Solnica-Krezel L, Spillmann RC, Stoler JM, Stong N, Sweetser DA, Tamburro CP, Tan QK-G, Tekin M, Telischi F, Thorson W, Tifft CJ, Toro C, Tran AA, Urv TK, Vogel TP, Waggott DM, Wahl CE, Walley NM, Walsh CA, Walker M, Wambach J, Wan J, Wang L, Wangler MF, Ward PA, Waters KM, Webb-Robertson B-JM, Wegner D, Westerfield M, Wheeler MT, Wise AL, Wolfe LA, Woods JD, Worthey EA, Yamamoto S, Yang J, Yoon AJ, Yu G, Zastrow DB, Zhao C, Zuchner S, Gahl W

Biological Psychiatry. 2020 Jan;87(2):100–12

Marsili L, Overwater E, Hanna N, Baujat G, Baars MJH, Boileau C, Bonneau D, Brehin AC, Capri Y, Cheung HY, Dulfer E, Gerard M, Gouya L, Hilhorst‐Hofstee Y, Houweling AC, Isidor B, le Gloan L, Menke LA, Odent S, Morice‐Picard F, Vanlerberghe C, Voorhoeve E, Tintelen JP, Maugeri A, Arnaud P

Clinical Genetics. 2020 May 16;97(5):723–30

Arnaud P, Racine C, Hanna N, Thevenon J, Alessandri J-L, Bonneau D, Clayton-Smith J, Coubes C, Delobel B, Dupuis-Girod S, Gouya L, Odent S, Carmignac V, Thauvin-Robinet C, le Goff C, Jondeau G, Boileau C, Faivre L.

Human Genetics. 2020 Apr 24;139(4):461–72

Lecoquierre F, Brehin A, Coutant S, Coursimault J, Bazin A, Finck W, Benoist G, Begorre M, Beneteau C, Cailliez D, Chenal P, de Jong M, Degré S, Devisme L, Francannet C, Gérard B, Jeanne C, Joubert M, Journel H, Laurichesse Delmas H, Layet V, Liquier A, Mangione R, Patrier S, Pelluard F, Petit F, Tillouche N, Ravenswaaij‐Arts C, Frebourg T, Saugier‐Veber P, Gruchy N, Nicolas G, Gerard M

Human Mutation. 2020 May;41(5):926–33

Krab LC, Marcos-Alcalde I, Assaf M, Balasubramanian M, Andersen JB, Bisgaard A-M, Fitzpatrick DR, Gudmundsson S, Huisman SA, Kalayci T, Maas SM, Martinez F, McKee S, Menke LA, Mulder PA, Murch OD, Parker M, Pie J, Ramos FJ, Rieubland C, Rosenfeld Mokry JA, Scarano E, Shinawi M, Gómez-Puertas P, Tümer Z, Hennekam RC

Human genetics. 2020 May;139(5):575–92

Ivanovski I, Djuric O, Broccoli S, Caraffi SG, Accorsi P, Adam MP, Avela K, Badura-Stronka M, Bayat A, Clayton-Smith J, Cocco I, Cordelli DM, Cuturilo G, di Pisa V, Dupont Garcia J, Gastaldi R, Giordano L, Guala A, Hoei-Hansen C, Inaba M, Iodice A, Nielsen JEK, Kuburovic V, Lazalde-Medina B, Malbora B, Mizuno S, Moldovan O, Møller RS, Muschke P, Otelli V, Pantaleoni C, Piscopo C, Poch-Olive ML, Prpic I, Marín Reina P, Raviglione F, Ricci E, Scarano E, Simonte G, Smigiel R, Tanteles G, Tarani L, Trimouille A, Valera ET, Schrier Vergano S, Writzl K, Callewaert B, Savasta S, Street ME, Iughetti L, Bernasconi S, Giorgi Rossi P, Garavelli L

Orphanet journal of rare diseases. 2020;15(1):151

Macchiaiolo M, Buonuomo PS, Mastrogiorgio G, Bordi M, Testa B, Weber G, Bellacchio E, Tartaglia M, Cecconi F, Bartuli A.

Molecular genetics and metabolism reports. 2020 Jun;23:100592

Dentici ML, Maglione V, Agolini E, Catena G, Capolino R, Lanari V, Novelli A, Sinibaldi L, Vecchio D, Gonfiantini M v, Macchiaiolo M, Digilio MC, Dallapiccola B, Bartuli A

American journal of medical genetics Part A. 2020;182(8):1977–84

Sferra A, Petrini S, Bellacchio E, Nicita F, Scibelli F, Dentici ML, Alfieri P, Cestra G, Bertini ES, Zanni G

International journal of molecular sciences. 2020 Feb 18;21(4)

Cocciadiferro D, Agolini E, Digilio MC, Sinibaldi L, Castori M, Silvestri E, Dotta A, Dallapiccola B, Novelli A

Medicine. 2020 Feb;99(8):e19169