Array ( [a205680] => Zanti, M.* [a205681] => O'Mahony, D.G.* [a175082] => Parsons, M.T.* [a42027] => Li, H.* [a102169] => Dennis, J.* [a205682] => Aittomäkkiki, K.* [a58579] => Andrulis, I.L.* [a58636] => Anton-Culver, H.* [a175012] => Aronson, K.J.* [a192588] => Augustinsson, A.* [a88432] => Becher, H.* [a58644] => Bojesen, S.E.* [a110825] => Bolla, M.K.* [a867] => Brenner, H.* [a31589] => Brown, M.A.* [a81632] => Buys, S.S.* [a18793] => Canzian, F.* [a205683] => Caputo, S.M.* [a192590] => Castelao, J.E.* [a6484] => Chang-Claude, J.* [a81423] => Czene, K.* [a175026] => Daly, M.B.* [a205684] => De Nicolo, A.* [a58576] => Devilee, P.* [a58621] => Dörk, T.* [a81419] => Dunning, A.M.* [a175031] => Dwek, M.* [a105243] => Eccles, D.M.* [a16596] => Engel, C.* [a67101] => Evans, D.G.* [a72038] => Fasching, P.A.* [a175029] => Gago-Dominguez, M.* [a30702] => Garcia-Closas, M.* [a175041] => García-Sáenz, J.A.* [a205686] => Gentry-Maharaj, A.* [a200026] => Geurts-Giele, W.R.R.* [a58592] => Giles, G.G.* [a58578] => Glendon, G.* [a110701] => Goldberg, M.S.* [a206195] => Garcia, E.B.G.* [a192581] => Gündert, M. [a65236] => Guénel, P.* [a192596] => Hahnen, E.* [a107669] => Haiman, C.A.* [a7063] => Hall, P.* [a4455] => Hamann, U.* [a198666] => Harkness, E.F.* [a198667] => Hogervorst, F.B.L.* [a56626] => Hollestelle, A.* [a192599] => Hoppe, R.* [a79038] => Hopper, J.L.* [a205688] => Houdayer, C.* [a19115] => Houlston, R.S.* [a197375] => Howell, A.* [a206196] => Investigators, A.* [a205689] => Jakimovska, M.* [a56620] => Jakubowska, A.* [a205690] => Jernström, H.* [a58585] => John, E.M.* [a2166] => Kaaks, R.* [a193767] => Kitahara, C.M.* [a175055] => Koutros, S.* [a1033] => Kraft, P.* [a110671] => Kristensen, V.N.* [a192606] => Lacey, J.V.* [a36629] => Lambrechts, D.* [a38442] => Leone, M.* [a58610] => Lindblom, A.* [a197378] => Lush, M.* [a58608] => Mannermaa, A.* [a192608] => Manoochehri, M.* [a58600] => Manoukian, S.* [a58609] => Margolin, S.* [a197379] => Martinez, M.E.* [a192611] => Menon, U.* [a58640] => Milne, R.L.* [a150330] => Monteiro, A.N.* [a192613] => Murphy, R.A.* [a175074] => Neuhausen, S.L.* [a101713] => Nevanlinna, H.* [a142018] => Newman, W.G.* [a158851] => Offit, K.* [a158850] => Park, S.K.* [a54864] => James, P.* [a58597] => Peterlongo, P.* [a79001] => Peto, J.* [a175086] => Plaseska-Karanfilska, D.* [a197390] => Punie, K.* [a110690] => Radice, P.* [a37741] => Rashid, M.U.* [a17219] => Rennert, G.* [a173036] => Romero, A.* [a205692] => Rosenberg, E.H.* [a175096] => Saloustros, E.* [a30713] => Sandler, D.P.* [a102171] => Schmidt, M.K.* [a5252] => Schmutzler, R.K.* [a140413] => Shu, X.* [a93544] => Simard, J.* [a78994] => Southey, M.C.* [a78984] => Stone, J.* [a206197] => Stoppa-Lyonnet, D.* [a156415] => Tamimi, R.M.* [a78982] => Tapper, W.J.* [a158849] => Taylor, J.A.* [a111085] => Teo, S.H.* [a192620] => Teras, L.R.* [a119753] => Terry, M.B.* [a158852] => Thomassen, M.* [a193773] => Troester, M.A.* [a107670] => Vachon, C.M.* [a175113] => Vega, A.* [a198677] => Vreeswijk, M.P.G.* [a134723] => Wang, Q.* [a16591] => Wappenschmidt, B.* [a175116] => Weinberg, C.R.* [a147764] => Wolk, A.* [a58285] => Zheng, W.* [a200017] => Feng, B.* [a58596] => Couch, F.J.* [a158824] => Spurdle, A.B.* [a25608] => Easton, D.F.* [a158830] => Goldgar, D.E.* [a102173] => Michailidou, K.* ) Array ( [a173094] => Scala, M.* [a165857] => Wortmann, S.B.* [a165858] => Kaya, N.* [a198333] => Stellingwerff, M.D.* [a198334] => Pistorio, A.* [a198335] => Glamuzina, E.* [a167613] => van Karnebeek, C.D.M.* [a198336] => Skrypnyk, C.* [a163672] => Iwanicka-Pronicka, K.* [a158463] => Piekutowska-Abramczuk, D.* [a156886] => Ciara, E.* [a197853] => Tort, F.* [a197083] => Sheidley, B.R.* [a198337] => Poduri, A.* [a191687] => Jayakar, P.* [a198338] => Jayakar, A.* [a198339] => Upadia, J.* [a198340] => Walano, N.* [a162459] => Haack, T.B.* [a1930] => Prokisch, H. [a191692] => Aldhalaan, H.M.* [a180039] => Karimiani, E.G.* [a109419] => Yildiz, Y.* [a198341] => Ceylan, A.C.* [a197097] => Dameron, A.* [a181201] => Yang, H.* [a183358] => Toosi, M.B.* [a192870] => Ashrafzadeh, F.* [a198342] => Akhondian, J.* [a198343] => Imannezhad, S.* [a198344] => Mirzadeh, H.S.* [a198345] => Maqbool, S.* [a198346] => Farid, A.* [a165851] => Al-Muhaizea, M.A.* [a198347] => Alshwameen, M.O.* [a198348] => Aldowsari, L.* [a165846] => Alsagob, M.* [a198349] => Alyousef, A.* [a165844] => Almass, R.* [a198350] => AlHargan, A.* [a198351] => Alwadei, A.H.* [a198352] => AlRasheed, M.M.* [a2384] => Colak, D.* [a198353] => Alqudairy, H.* [a54615] => Khan, S.* [a198354] => Lines, M.A.* [a198355] => García Cazorla, M.* [a197854] => Ribes, A.* [a157224] => Morava, E.* [a192761] => Bibi, F.* [a192628] => Haider, S.* [a198356] => Ferla, M.P.* [a162166] => Taylor, J.C.* [a178107] => Alsaif, H.S.* [a198357] => Firdous, A.* [a165842] => Hashem, M.* [a198358] => Shashkin, C.* [a198359] => Koneev, K.* [a186660] => Kaiyrzhanov, R.* [a189267] => Efthymiou, S.* [a198360] => Genomics, Q.S.* [a198361] => Schmitt-Mechelke, T.* [a3297] => Ziegler, A.* [a171738] => Issa, M.Y.* [a171733] => Elbendary, H.M.* [a105936] => Striano, P.* [a99777] => Alkuraya, F.S.* [a171751] => Zaki, M.S.* [a138510] => Gleeson, J.G.* [a192882] => Barakat, T.S.* [a160264] => Bierau, J.* [a61909] => van der Knaap, M.S.* [a167552] => Maroofian, R.* [a7937] => Houlden, H.* ) Array ( [a196762] => Smirnov, D. [a188630] => Schlieben, L.D. [a199445] => Peymani, F. [a149243] => Berutti, R. [a194785] => Prokisch, H. ) Array ( [a187825] => Itai, T.* [a187826] => Hamanaka, K.* [a32914] => Sasaki, K.* [a3516] => Wagner, M. [a135522] => Kotzaeridou, U.* [a187827] => Brosse, I.* [a174965] => Ries, M.* [a187828] => Kobayashi, Y.* [a187829] => Tohyama, J.* [a187830] => Kato, M.* [a187831] => Ong, W.P.* [a187832] => Chew, H.B.* [a187833] => Rethanavelu, K.* [a162633] => Ranza, E.* [a187834] => Blanc, X.* [a1509] => Uchiyama, Y.* [a187835] => Tsuchida, N.* [a187836] => Fujita, A.* [a187837] => Azuma, Y.* [a187838] => Koshimizu, E.* [a187839] => Mizuguchi, T.* [a187840] => Takata, A.* [a187841] => Miyake, N.* [a154685] => Takahashi, H.* [a187842] => Miyagi, E.* [a187843] => Tsurusaki, Y.* [a187844] => Doi, H.* [a187845] => Taguri, M.* [a49009] => Antonarakis, S.E.* [a187846] => Nakashima, M.* [a187847] => Saitsu, H.* [a187848] => Miyatake, S.* [a187849] => Matsumoto, N.* ) Array ( [a191680] => Neuser, S.* [a191681] => Brechmann, B.* [a160728] => Heimer, G.* [a191682] => Brösse, I.* [a60903] => Schubert, S.* [a191683] => O'Grady, L.* [a132007] => Zech, M. [a150517] => Srivastava, S.* [a191684] => Sweetser, D.A.* [a184497] => Dincer, Y.* [a136334] => Mall, V.* [a133307] => Winkelmann, J. [a170612] => Behrends, C.* [a191685] => Darras, B.T.* [a191686] => Graham, R.J.* [a191687] => Jayakar, P.* [a191688] => Byrne, B.* [a191689] => El Bar-Aluma, B.* [a191690] => Haberman, Y.* [a191691] => Szeinberg, A.* [a191692] => Aldhalaan, H.M.* [a165842] => Hashem, M.* [a191693] => Tenaiji, A.A.* [a191694] => Ismayl, O.* [a191695] => Al Nuaimi, A.E.* [a191696] => Maher, K.* [a191697] => Ibrahim, S.* [a191698] => Khan, F.* [a7937] => Houlden, H.* [a191699] => Ramakumaran, V.S.* [a172144] => Pagnamenta, A.T.* [a166060] => Posey, J.E.* [a145936] => Lupski, J.R.* [a162641] => Tan, W.H.* [a191700] => ElGhazali, G.* [a191701] => Herman, I.* [a191702] => Muñoz, T.* [a191703] => Repetto, G.M.* [a117236] => Seitz, A.* [a161754] => Krumbiegel, M.* [a191704] => Cecilia Poli, M.* [a172394] => Kini, U.* [a189267] => Efthymiou, S.* [a188766] => Meiler, J.* [a167552] => Maroofian, R.* [a99777] => Alkuraya, F.S.* [a26338] => Jamra, R.A.* [a168937] => Popp, B.* [a160736] => Ben-Zeev, B.* [a148686] => Ebrahimi-Fakhari, D.* ) Array ( [a195299] => Stenton, S. [a158463] => Piekutowska-Abramczuk, D.* [a188750] => Kulterer, L. [a195280] => Kopajtich, R. [a155218] => Claeys, K.G.* [a156886] => Ciara, E.* [a188751] => Eisen, J.* [a156888] => Płoski, R.* [a143890] => Pronicka, E.* [a188752] => Malczyk, K.* [a196054] => Wagner, M. [a135521] => Wortmann, S.B. [a1930] => Prokisch, H. ) Array ( [a139100] => Torraco, A.* [a137460] => Nasca, A.* [a144349] => Verrigni, D.* [a191075] => Pennisi, A.* [a171751] => Zaki, M.S.* [a191076] => Olivieri, G.* [a142056] => Assouline, Z.* [a61915] => Martinelli, D.* [a167552] => Maroofian, R.* [a191077] => Rizza, T.* [a191078] => Di Nottia, M.* [a13126] => Invernizzi, F.* [a35472] => Lamantea, E.* [a191079] => Longo, D.* [a7937] => Houlden, H.* [a194785] => Prokisch, H. [a163400] => Rötig, A.* [a162954] => Dionisi-Vici, C.* [a60730] => Bertini, E.* [a13116] => Ghezzi, D.* [a139099] => Carrozzo, R.* [a136615] => Diodato, D.* ) Array ( [a138654] => Ascari, G.* [a183299] => Peelman, F.* [a183300] => Farinelli, P.* [a183301] => Rosseel, T.* [a165272] => Lambrechts, N.* [a150951] => Wunderlich, K.A.* [a3516] => Wagner, M. [a45791] => Nikopoulos, K.* [a183302] => Martens, P.* [a183303] => Balikova, I.* [a140728] => Derycke, L.* [a140731] => Holtappels, G.* [a162984] => Krysko, O.* [a183304] => Van Laethem, T.* [a183305] => De Jaegere, S.* [a160552] => Guillemyn, B.* [a160557] => De Rycke, R.* [a151568] => de Bleecker, J.* [a183306] => Creytens, D.* [a183307] => Van Dorpe, J.* [a183308] => Gerris, J.* [a49721] => Bachert, C.* [a183309] => Neuhofer, C.* [a183310] => Walraedt, S.* [a59571] => Bischoff, A.* [a149314] => Pedersen, L.B.* [a158466] => Klopstock, T.* [a46551] => Rivolta, C.* [a18272] => Leroy, B.P.* [a18265] => de Baere, E.* [a183311] => Coppieters, F.* ) Array ( [a177034] => Saoura, M.* [a137461] => Powell, C.A.* [a195280] => Kopajtich, R. [a173100] => Alahmad, A.* [a177035] => Al-Balool, H.H.* [a177036] => Albash, B.* [a165841] => Alfadhel, M.* [a140325] => Alston, C.L.* [a60730] => Bertini, E.* [a177037] => Bonnen, P.* [a177038] => Bratkovic, D.* [a139099] => Carrozzo, R.* [a130630] => Donati, M.A.* [a177039] => Nottia, M.D.* [a13116] => Ghezzi, D.* [a177040] => Goldstein, A.* [a177041] => Haan, E.* [a13119] => Horvath, R.* [a15373] => Hughes, J.* [a13126] => Invernizzi, F.* [a35472] => Lamantea, E.* [a177042] => Lucas, B.* [a177043] => Pinnock, K.G.* [a177044] => Pujantell, M.* [a24133] => Rahman, S.* [a164861] => Rebelo-Guiomar, P.* [a127480] => Santra, S.* [a144349] => Verrigni, D.* [a35475] => McFarland, R. [a1930] => Prokisch, H. [a35485] => Taylor, R.W.* [a177045] => Levinger, L.* [a102627] => Minczuk, M.* ) Array ( [a178103] => Suleiman, J.* [a166636] => Riedhammer, K.M. [a178104] => Jicinsky, T.* [a178105] => Mundt, M.* [a164041] => Werner, L.* [a158820] => Gusic, M. [a178106] => Burgemeister, A.L.* [a178107] => Alsaif, H.S.* [a178108] => Abdulrahim, M.* [a178109] => Moghrabi, N.N.* [a178110] => Nicolas-Jilwan, M.* [a166977] => AlSayed, M.* [a175412] => Bi, W.* [a160990] => Sampath, S.* [a99777] => Alkuraya, F.S.* [a165834] => El-Hattab, A.W.* ) Array ( [a167623] => Bruni, F.* [a167624] => Meo, I.D.* [a167625] => Bellacchio, E.* [a167626] => Webb, B.D.* [a35475] => McFarland, R.* [a167627] => Chrzanowska-Lightowlers, Z.M.A.* [a100289] => He, L.* [a167628] => Skorupa, E.* [a59533] => Moroni, I.* [a135615] => Ardissone, A.* [a167629] => Walczak, A.* [a161646] => Tyynismaa, H.* [a157788] => Isohanni, P.* [a142043] => Mandel, H.* [a167630] => Prokisch, H.* [a53506] => Haack, T.B. [a148688] => Bonnen, P.E.* [a167631] => Enrico, B.* [a143890] => Pronicka, E.* [a13116] => Ghezzi, D.* [a35485] => Taylor, R.W.* [a136615] => Diodato, D.* ) Array ( [a165834] => El-Hattab, A.W.* [a165835] => Dai, H.* [a165836] => Almannai, M.* [a156065] => Wang, J.* [a165837] => Faqeih, E.A.* [a165838] => Al Asmari, A.* [a165839] => Saleh, M.A.M.* [a165840] => Elamin, M.A.O.* [a165841] => Alfadhel, M.* [a99777] => Alkuraya, F.S.* [a165842] => Hashem, M.* [a165843] => Aldosary, M.S.* [a165844] => Almass, R.* [a165845] => Almutairi, F.B.* [a165846] => Alsagob, M.* [a165847] => Al-Owain, M.* [a165848] => Al-Sharfa, S.* [a165849] => Al-Hassnan, Z.N.* [a165850] => Rahbeeni, Z.* [a165851] => Al-Muhaizea, M.A.* [a165852] => Makhseed, N.* [a165853] => Foskett, G.K.* [a165854] => Stevenson, D.A.* [a165855] => Gomez-Ospina, N.* [a145157] => Lee, C.* [a142984] => Boles, R.G.* [a165856] => Schrier Vergano, S.A.* [a165857] => Wortmann, S.B. [a45835] => Sperl, W.* [a160739] => Opladen, T.* [a59709] => Hoffmann, G.F.* [a5194] => Hempel, M.* [a1930] => Prokisch, H. [a151384] => Alhaddad, B. [a35480] => Mayr, J.A.* [a157996] => Chan, W.* [a165858] => Kaya, N.* [a165859] => Wong, L.J.C.* ) Array ( [a161425] => Kreimer, A.* [a77627] => Zeng, H.* [a161426] => Edwards, M.D.* [a46912] => Guo, Y.* [a161427] => Tian, K.* [a136555] => Shin, S.* [a6800] => Welch, R.* [a161428] => Wainberg, M.* [a161429] => Mohan, R.* [a161430] => Sinnott-Armstrong, N.A.* [a135277] => Li, Y.* [a161431] => Eraslan, G. [a161432] => Amin, T.B.* [a161433] => Goke, J.* [a33455] => Müller, N.S. [a138055] => Kellis, M.* [a161434] => Kundaje, A.* [a161435] => Beer, M.A.* [a45635] => Keles, S.* [a161436] => Gifford, D.K.* [a146826] => Yosef, N.* ) Array ( [a165340] => Wambach, J.A.* [a152861] => Stettner, G.M.* [a53506] => Haack, T.B. [a165341] => Writzl, K.* [a165342] => Škofljanec, A.* [a165343] => Maver, A.* [a165344] => Munell, F.* [a57205] => Ossowski, S.* [a165345] => Bosio, M.* [a165346] => Wegner, D.J.* [a165347] => Shinawi, M.* [a165348] => Baldridge, D.* [a158392] => Alhaddad, B.* [a4063] => Strom, T.M. [a165349] => Grange, D.K.* [a59710] => Wilichowski, E.* [a165350] => Troxell, R.* [a164589] => Collins, J.E.* [a165351] => Warner, B.B.* [a147734] => Schmidt, R.E.* [a165352] => Pestronk, A.* [a165353] => Cole, F.S.* [a165354] => Steinfeld, R.* ) Array ( [a135521] => Wortmann, S.B. [a164626] => Timal, S.* [a36665] => Venselaar, H.* [a164627] => Wintjes, L.T.* [a122473] => Kopajtich, R. [a140212] => Feichtinger, R.G.* [a164628] => Onnekink, C.* [a164629] => Mühlmeister, M.* [a23454] => Brandt, U.* [a142918] => Smeitink, J.A.M.* [a4059] => Veltman, J.A.* [a45835] => Sperl, W.* [a4567] => Lefeber, D.J.* [a161490] => Pruijn, G.J.M.* [a164630] => Stojanovic, V.* [a22921] => Freisinger, P.* [a164631] => V Spronsen, F.* [a164632] => Derks, T.G.* [a157357] => Veenstra-Knol, H.E.* [a35480] => Mayr, J.A.* [a163400] => Rötig, A.* [a80394] => Tarnopolsky, M.* [a1930] => Prokisch, H. [a59530] => Rodenburg, R.J.* ) Array ( [a151522] => Bögershausen, N.* [a156793] => Gatinois, V.* [a156794] => Riehmer, V.* [a35505] => Kayserili, H.* [a144027] => Becker, J.* [a156795] => Thoenes, M.* [a156796] => Simsek-Kiper, P.* [a156797] => Barat-Houari, M.* [a143069] => Elcioğlu, N.H.* [a37326] => Wieczorek, D.* [a53774] => Tinschert, S.* [a156798] => Sarrabay, G.* [a4063] => Strom, T.M. [a156799] => Fabre, A.* [a156800] => Baynam, G.* [a156801] => Sanchez, E.* [a17893] => Nurnberg, G.* [a156802] => Altunoglu, U.* [a156803] => Capri, Y.* [a49066] => Isidor, B.* [a156804] => Lacombe, D.* [a156805] => Corsini, C.* [a156806] => Cormier-Daire, V.* [a49000] => Sanlaville, D.* [a156807] => Giuliano, F.* [a156808] => Sang, K.L.* [a156809] => Kayirangwa, H.* [a2148] => Nürnberg, P.* [a325] => Meitinger, T. [a147060] => Boduroglu, K.* [a70281] => Zoll, B.* [a151530] => Lyonnet, S.* [a35377] => Tzschach, A.* [a156810] => Verloes, A.* [a156811] => Donato, N.D.* [a156812] => Touitou, I.* [a24705] => Netzer, C.* [a135277] => Li, Y.* [a156813] => Geneviève, D.* [a151532] => Yigit, G.* [a22758] => Wollnik, B.* ) Array ( [a136615] => Diodato, D.* [a60676] => Melchionda, L.* [a53506] => Haack, T.B. [a60675] => Dallabona, C.* [a60943] => Baruffini, E.* [a127481] => Donnini, C.* [a137456] => Granata, T.* [a137457] => Ragona, F.* [a137458] => Balestri, P.* [a137459] => Margollicci, M.* [a35472] => Lamantea, E.* [a137460] => Nasca, A.* [a137461] => Powell, C.A.* [a102627] => Minczuk, M.* [a4063] => Strom, T.M. [a325] => Meitinger, T. [a1930] => Prokisch, H. [a126474] => Lamperti, C.* [a8219] => Zeviani, M.* [a13116] => Ghezzi, D.* ) Array ( [a60943] => Baruffini, E.* [a60675] => Dallabona, C.* [a13126] => Invernizzi, F.* [a127485] => Yarham, J.W.* [a60676] => Melchionda, L.* [a127483] => Blakely, E.L.* [a35472] => Lamantea, E.* [a127481] => Donnini, C.* [a127480] => Santra, S.* [a127479] => Vijayaraghavan, S.* [a127478] => Roper, H.P.* [a127477] => Burlina, A.* [a122473] => Kopajtich, R. [a109273] => Walther, A. [a4063] => Strom, T.M. [a53506] => Haack, T.B. [a1930] => Prokisch, H. [a35485] => Taylor, R.W.* [a13127] => Ferrero, I.* [a8219] => Zeviani, M.* [a13116] => Ghezzi, D.* ) Array ( [a120095] => Parzefall, T.* [a120094] => Shivatzki, S.* [a3851] => Lenz, D.R.* [a495] => Rathkolb, B. [a119649] => Ushakov, K.* [a119648] => Karfunkel, D.* [a119647] => Shapira, Y.* [a628] => Wolf, M.* [a22421] => Mohr, M.* [a2151] => Wolf, E.* [a62999] => Sabrautzki, S. [a324] => Hrabě de Angelis, M. [a120092] => Frydman, M.* [a122460] => Brownstein, Z.* [a15160] => Avraham, K.B.* ) Array ( [a56804] => Horn, D.* [a108804] => Kapeller, J.* [a30961] => Rivera-Brugues, N. [a77001] => Moog, U.* [a4478] => Lorenz-Depiereux, B. [a5195] => Eck, S.H. [a5194] => Hempel, M.* [a2989] => Wagenstaller, J. [a5192] => Gawthrope, A.* [a5191] => Monaco, A.P.* [a5190] => Bonin, M.* [a5189] => Riess, O.* [a5188] => Wohlleber, E.* [a563] => Illig, T. [a5186] => Bezzina, C.R.* [a89] => Franke, A.* [a4872] => Spranger, S.* [a5183] => Villavicencio-Lorini, P.* [a5182] => Seifert, W.* [a5181] => Rosenfeld, J.* [a57884] => Klopocki, E.* [a5180] => Rappold, G.A.* [a4063] => Strom, T.M. ) PuSH - Publikationsserver des Helmholtz Zentrums München: Found

PuSH - Publikationsserver des Helmholtz Zentrums München

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1.
Zanti, M.* et al.: A likelihood ratio approach for utilizing case-control data in the clinical classification of rare sequence variants: Application to BRCA1 and BRCA2. Hum. Mutat. 2023:17 (2023)
2.
Scala, M.* et al.: Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency. Hum. Mutat. 43, 403-419 (2022)
3.
Smirnov, D. ; Schlieben, L.D. ; Peymani, F. ; Berutti, R. & Prokisch, H.: Guidelines for clinical interpretation of variant pathogenicity using RNA phenotypes. Hum. Mutat. 43, 1056-1070 (2022)
4.
Itai, T.* et al.: De novo variants in CELF2  that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy. Hum. Mutat. 42, 66-76 (2021)
5.
Neuser, S.* et al.: Clinical, neuroimaging and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability. Hum. Mutat. 42, 762-776 (2021)
6.
Stenton, S. et al.: Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance. Hum. Mutat. 42, 310-319 (2021)
7.
Torraco, A.* et al.: Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation. Hum. Mutat. 42, 699-710 (2021)
8.
Ascari, G.* et al.: Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility. Hum. Mutat. 41, 998-1011 (2020)
9.
Saoura, M.* et al.: Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3 '-end processing. Hum. Mutat. 40, 1731-1748 (2019)
10.
Suleiman, J.* et al.: Homozygous loss-of-function variants of TASP1, a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomalies. Hum. Mutat. 40, 1985-1992 (2019)
11.
Bruni, F.* et al.: Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease. Hum. Mutat. 39, 563-578 (2018)
12.
El-Hattab, A.W.* et al.: Molecular and clinical spectra of FBXL4 deficiency. Hum. Mutat. 38, 1649-1659 (2017)
13.
Kreimer, A.* et al.: Predicting gene expression in massively parallel reporter assays: A comparative study. Hum. Mutat. 38, 1240-1250 (2017)
14.
Wambach, J.A.* et al.: Survival among children with “Lethal” congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN). Hum. Mutat. 38, 1477-1484 (2017)
15.
Wortmann, S.B. et al.: Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy. Hum. Mutat. 38, 1786-1795 (2017)
16.
Bögershausen, N.* et al.: Mutation update for Kabuki syndrome genes KMT2D and KDM6A and further delineation of X-linked Kabuki syndrome subtype 2. Hum. Mutat. 37, 847-864 (2016)
17.
Diodato, D.* et al.: VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies. Hum. Mutat. 35, 983-989 (2014)
18.
Baruffini, E.* et al.: MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast. Hum. Mutat. 34, 1501-1509 (2013)
19.
Parzefall, T.* et al.: Cytoplasmic mislocalization of POU3F4 due to novel mutations leads to deafness in humans and mice. Hum. Mutat. 34, 1102-1110 (2013)
20.
Horn, D.* et al.: Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits. Hum. Mutat. 31, E1851-E1860 (2010)