Selected Publications
Fischer-Zirnsak B, Escande-Beillard N, Ganesh J, Tan YX, Al Bughaili M, Lin AE, Sahai I, Bahena P, Reichert SL, Loh A, Wright GD, Liu J, Rahikkala E, Pivnick EK, Choudhri AF, Krüger U, Zemojtel T, van Ravenswaaij-Arts C, Mostafavi R, Stolte-Dijkstra I, Symoens S, Pajunen L, Al-Gazali L, Meierhofer D, Robinson PN, Mundlos S, Villarroel CE, Byers P, Masri A, Robertson SP, Schwarze U, Callewaert B, Reversade B, Kornak U: Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa. Am J Hum Genet 2015 Sep 3; 97(3):483-92. doi: 10.1016/j.ajhg.2015.08.001.
Gambin T, Yuan B, Bi W, Coban-Akdemir Z, Liu P, Rosenfeld J, Pursley A,. Nagamani S, Marom R, Golla S, Dengle L, Petrie H, Matalon R, Emrick L, Proud MB, Treadwell-Deering D, Chao H, Hannele K, Brown CW, Urraca-Gutierrez N, Mostafavi R, Bernes S, Roeder ER, Nugent KM, Bader PI, Bellus G, Cummings M, Northrup H, Ashfaq M, Westman R, Wildin R, Beck A, Immken L, Elton LE, Varghese S, Buchanan E, Schaaf CP, Walkiewicz M, Kang SL, Lalani SR, Bacino CA, Beaudet AL, Yang Y, Breman AM, Smith JL, Cheung S, Lupski, JR, Patel A, Shaw CA, Stankiewicz P: Identification of novel disease genes from de novo exonic copy-number variants. Genome Medicine. Genome Med. 2017 Sep 21; 9(1):83. doi: 10.1186/s13073-017-0472-7.
Last update: June 2018