부산대학교 도서관

van der Laan, Liselot ; Karimi, Karim ; Rooney, Kathleen ; Lauffer, Peter ; McConkey, Haley ; Caro, Pilar ; Relator, Raissa ; Levy, Michael A. ; Bhai, Pratibha ; Mignot, Cyril ; Keren, Boris ; Briuglia, Silvana ; Sobering, Andrew K. ; Li, Dong ; Vissers, Lisenka E.L.M. ; Dingemans, Alexander J.M. ; Valenzuela, Irene ; Verberne, Eline A. ; Misra-Isrie, Mala ; Zwijnenburg, Petra J.G. ; Waisfisz, Quinten ; Alders, Mariëlle ; Sailer, Sebastian ; Schaaf, Christian P. ; Mannens, Marcel M.A.M. ; Sadikovic, Bekim ; van Haelst, Mieke M. ; Henneman, Peter

In Genetics in Medicine March 2024 26(3)

de Beaufort, Cunera M.C.; van den Akker, Alex C.M.; Kuijper, Caroline F.; Broers, Chantal J.M.; de Jong, Justin R.; de Beer, Sjoerd A.; Straver, Bart; Zwijnenburg, Petra J.G.; Gorter, Ramon R.

Journal of Pediatric Surgery. 58(9):1699-1707

Ferdinandusse, Sacha ; McWalter, Kirsty ; te Brinke, Heleen ; IJlst, Lodewijk ; Mooijer, Petra M. ; Ruiter, Jos P.N. ; van Lint, Alida E.M. ; Pras-Raves, Mia ; Wever, Eric ; Millan, Francisca ; Guillen Sacoto, Maria J. ; Begtrup, Amber ; Tarnopolsky, Mark ; Brady, Lauren ; Ladda, Roger L. ; Sell, Susan L. ; Nowak, Catherine B. ; Douglas, Jessica ; Tian, Cuixia ; Ulm, Elizabeth ; Perlman, Seth ; Drack, Arlene V. ; Chong, Karen ; Martin, Nicole ; Brault, Jennifer ; Brokamp, Elly ; Toro, Camilo ; Gahl, William A. ; Macnamara, Ellen F. ; Wolfe, Lynne ; Alejandro, Mercedes E. ; Azamian, Mahshid S. ; Bacino, Carlos A. ; Balasubramanyam, Ashok ; Burrage, Lindsay C. ; Chao, Hsiao-Tuan ; Clark, Gary D. ; Craigen, William J. ; Dai, Hongzheng ; Dhar, Shweta U. ; Emrick, Lisa T. ; Goldman, Alica M. ; Hanchard, Neil A. ; Jamal, Fariha ; Karaviti, Lefkothea ; Lalani, Seema R. ; Lee, Brendan H. ; Lewis, Richard A. ; Marom, Ronit ; Moretti, Paolo M. ; Murdock, David R. ; Nicholas, Sarah K. ; Orengo, James P. ; Posey, Jennifer E. ; Potocki, Lorraine ; Rosenfeld, Jill A. ; Samson, Susan L. ; Scott, Daryl A. ; Tran, Alyssa A. ; Vogel, Tiphanie P. ; Wangler, Michael F. ; Yamamoto, Shinya ; Eng, Christine M. ; Liu, Pengfei ; Ward, Patricia A. ; Behrens, Edward ; Deardorff, Matthew ; Falk, Marni ; Hassey, Kelly ; Sullivan, Kathleen ; Vanderver, Adeline ; Goldstein, David B. ; Cope, Heidi ; McConkie-Rosell, Allyn ; Schoch, Kelly ; Shashi, Vandana ; Smith, Edward C. ; Spillmann, Rebecca C. ; Sullivan, Jennifer A. ; Tan, Queenie K.-G. ; Walley, Nicole M. ; Agrawal, Pankaj B. ; Beggs, Alan H. ; Berry, Gerard T. ; Briere, Lauren C. ; Cobban, Laurel A. ; Coggins, Matthew ; Cooper, Cynthia M. ; Fieg, Elizabeth L. ; High, Frances ; Holm, Ingrid A. ; Korrick, Susan ; Krier, Joel B. ; Lincoln, Sharyn A. ; Loscalzo, Joseph ; Maas, Richard L. ; MacRae, Calum A. ; Pallais, J. Carl ; Rao, Deepak A. ; Rodan, Lance H. ; Silverman, Edwin K. ; Stoler, Joan M. ; Sweetser, David A. ; Walker, Melissa ; Walsh, Chris A. ; Esteves, Cecilia ; Kelley, Emily G. ; Kohane, Isaac S. ; LeBlanc, Kimberly ; McCray, Alexa T. ; Nagy, Anna ; Dasari, Surendra ; Lanpher, Brendan C. ; Lanza, Ian R. ; Morava, Eva ; Oglesbee, Devin ; Bademci, Guney ; Barbouth, Deborah ; Bivona, Stephanie ; Carrasquillo, Olveen ; Chang, Ta Chen Peter ; Forghani, Irman ; Grajewski, Alana ; Isasi, Rosario ; Lam, Byron ; Levitt, Roy ; Liu, Xue Zhong ; McCauley, Jacob ; Sacco, Ralph ; Saporta, Mario ; Schaechter, Judy ; Tekin, Mustafa ; Telischi, Fred ; Thorson, Willa ; Zuchner, Stephan ; Colley, Heather A. ; Dayal, Jyoti G. ; Eckstein, David J. ; Findley, Laurie C. ; Krasnewich, Donna M. ; Mamounas, Laura A. ; Manolio, Teri A. ; Mulvihill, John J. ; LaMoure, Grace L. ; Goldrich, Madison P. ; Urv, Tiina K. ; Doss, Argenia L. ; Acosta, Maria T. ; Bonnenmann, Carsten ; D’Souza, Precilla ; Draper, David D. ; Ferreira, Carlos ; Godfrey, Rena A. ; Groden, Catherine A. ; Maduro, Valerie V. ; Markello, Thomas C. ; Nath, Avi ; Novacic, Donna ; Pusey, Barbara N. ; Wahl, Colleen E. ; Baker, Eva ; Burke, Elizabeth A. ; Adams, David R. ; Malicdan, May Christine V. ; Tifft, Cynthia J. ; Wolfe, Lynne A. ; Yang, John ; Power, Bradley ; Gochuico, Bernadette ; Huryn, Laryssa ; Latham, Lea ; Davis, Joie ; Mosbrook-Davis, Deborah ; Rossignol, Francis ; Solomon, Ben ; MacDowall, John ; Thurm, Audrey ; Zein, Wadih ; Yousef, Muhammad ; Adam, Margaret ; Amendola, Laura ; Bamshad, Michael ; Beck, Anita ; Bennett, Jimmy ; Berg-Rood, Beverly ; Blue, Elizabeth ; Boyd, Brenna ; Byers, Peter ; Chanprasert, Sirisak ; Cunningham, Michael ; Dipple, Katrina ; Doherty, Daniel ; Earl, Dawn ; Glass, Ian ; Golden-Grant, Katie ; Hahn, Sihoun ; Hing, Anne ; Hisama, Fuki M. ; Horike-Pyne, Martha ; Jarvik, Gail P. ; Jarvik, Jeffrey ; Jayadev, Suman ; Lam, Christina ; Maravilla, Kenneth ; Mefford, Heather ; Merritt, J. Lawrence ; Mirzaa, Ghayda ; Nickerson, Deborah ; Raskind, Wendy ; Rosenwasser, Natalie ; Scott, C. Ron ; Sun, Angela ; Sybert, Virginia ; Wallace, Stephanie ; Wener, Mark ; Wenger, Tara ; Ashley, Euan A. ; Bejerano, Gill ; Bernstein, Jonathan A. ; Bonner, Devon ; Coakley, Terra R. ; Fernandez, Liliana ; Fisher, Paul G. ; Fresard, Laure ; Hom, Jason ; Huang, Yong ; Kohler, Jennefer N. ; Kravets, Elijah ; Majcherska, Marta M. ; Martin, Beth A. ; Marwaha, Shruti ; McCormack, Colleen E. ; Raja, Archana N. ; Reuter, Chloe M. ; Ruzhnikov, Maura ; Sampson, Jacinda B. ; Smith, Kevin S. ; Sutton, Shirley ; Tabor, Holly K. ; Tucker, Brianna M. ; Wheeler, Matthew T. ; Zastrow, Diane B. ; Zhao, Chunli ; Byrd, William E. ; Crouse, Andrew B. ; Might, Matthew ; Nakano-Okuno, Mariko ; Whitlock, Jordan ; Brown, Gabrielle ; Butte, Manish J. ; Dell’Angelica, Esteban C. ; Dorrani, Naghmeh ; Douine, Emilie D. ; Fogel, Brent L. ; Gutierrez, Irma ; Huang, Alden ; Krakow, Deborah ; Lee, Hane ; Loo, Sandra K. ; Mak, Bryan C. ; Martin, Martin G. ; Martínez-Agosto, Julian A. ; McGee, Elisabeth ; Nelson, Stanley F. ; Nieves-Rodriguez, Shirley ; Palmer, Christina G.S. ; Papp, Jeanette C. ; Parker, Neil H. ; Renteria, Genecee ; Signer, Rebecca H. ; Sinsheimer, Janet S. ; Wan, Jijun ; Wang, Lee-kai ; Perry, Katherine Wesseling ; Woods, Jeremy D. ; Alvey, Justin ; Andrews, Ashley ; Bale, Jim ; Bohnsack, John ; Botto, Lorenzo ; Carey, John ; Pace, Laura ; Longo, Nicola ; Marth, Gabor ; Moretti, Paolo ; Quinlan, Aaron ; Velinder, Matt ; Viskochil, Dave ; Bayrak-Toydemir, Pinar ; Mao, Rong ; Westerfield, Monte ; Bican, Anna ; Duncan, Laura ; Hamid, Rizwan ; Kennedy, Jennifer ; Kozuira, Mary ; Newman, John H. ; Phillips, John A., III ; Rives, Lynette ; Robertson, Amy K. ; Solem, Emily ; Cogan, Joy D. ; Cole, F. Sessions ; Hayes, Nichole ; Kiley, Dana ; Sisco, Kathy ; Wambach, Jennifer ; Wegner, Daniel ; Baldridge, Dustin ; Pak, Stephen ; Schedl, Timothy ; Shin, Jimann ; Solnica-Krezel, Lilianna ; Waisfisz, Quinten ; Zwijnenburg, Petra J.G. ; Ziegler, Alban ; Barth, Magalie ; Smith, Rosemarie ; Ellingwood, Sara ; Gaebler-Spira, Deborah ; Bakhtiari, Somayeh ; Kruer, Michael C. ; van Kampen, Antoine H.C. ; Wanders, Ronald J.A. ; Waterham, Hans R. ; Cassiman, David ; Vaz, Frédéric M.

In Genetics in Medicine April 2021 23(4):740-750

Schneeberger, Pauline E. ; von Elsner, Leonie ; Barker, Emma L. ; Meinecke, Peter ; Marquardt, Iris ; Alawi, Malik ; Steindl, Katharina ; Joset, Pascal ; Rauch, Anita ; Zwijnenburg, Petra J.G. ; Weiss, Marjan M. ; Merry, Catherine L.R. ; Kutsche, Kerstin

In The American Journal of Human Genetics 3 December 2020 107(6):1044-1061

Ferdinandusse, Sacha; McWalter, Kirsty; te Brinke, Heleen; IJlst, Lodewijk; Mooijer, Petra M.; Ruiter, Jos P.N.; van Lint, Alida E.M.; Pras-Raves, Mia; Wever, Eric; Millan, Francisca; Guillen Sacoto, Maria J.; Begtrup, Amber; Tarnopolsky, Mark; Brady, Lauren; Ladda, Roger L.; Sell, Susan L.; Nowak, Catherine B.; Douglas, Jessica; Tian, Cuixia; Ulm, Elizabeth; Perlman, Seth; Drack, Arlene V.; Chong, Karen; Martin, Nicole; Brault, Jennifer; Brokamp, Elly; Toro, Camilo; Gahl, William A.; Macnamara, Ellen F.; Wolfe, Lynne A.; Alejandro, Mercedes E.; Azamian, Mahshid S.; Bacino, Carlos A.; Balasubramanyam, Ashok; Burrage, Lindsay C.; Chao, Hsiao Tuan; Clark, Gary D.; Craigen, William J.; Dai, Hongzheng; Dhar, Shweta U.; Emrick, Lisa T.; Goldman, Alica M.; Hanchard, Neil A.; Jamal, Fariha; Karaviti, Lefkothea; Lalani, Seema R.; Lee, Brendan H.; Lewis, Richard A.; Marom, Ronit; Moretti, Paolo; Murdock, David R.; Nicholas, Sarah K.; Orengo, James P.; Posey, Jennifer E.; Potocki, Lorraine; Rosenfeld, Jill A.; Samson, Susan L.; Scott, Daryl A.; Tran, Alyssa A.; Vogel, Tiphanie P.; Wangler, Michael F.; Yamamoto, Shinya; Eng, Christine M.; Liu, Pengfei; Ward, Patricia A.; Behrens, Edward; Deardorff, Matthew; Falk, Marni; Hassey, Kelly; Sullivan, Kathleen; Vanderver, Adeline; Goldstein, David B.; Cope, Heidi; McConkie-Rosell, Allyn; Schoch, Kelly; Shashi, Vandana; Smith, Edward C.; Spillmann, Rebecca C.; Sullivan, Jennifer A.; Tan, Queenie K.G.; Walley, Nicole M.; Agrawal, Pankaj B.; Beggs, Alan H.; Berry, Gerard T.; Briere, Lauren C.; Cobban, Laurel A.; Coggins, Matthew; Cooper, Cynthia M.; Fieg, Elizabeth L.; High, Frances; Holm, Ingrid A.; Korrick, Susan; Krier, Joel B.; Lincoln, Sharyn A.; Loscalzo, Joseph; Maas, Richard L.; MacRae, Calum A.; Pallais, J. Carl; Rao, Deepak A.; Rodan, Lance H.; Silverman, Edwin K.; Stoler, Joan M.; Sweetser, David A.; Walker, Melissa; Walsh, Chris A.; Esteves, Cecilia; Kelley, Emily G.; Kohane, Isaac S.; LeBlanc, Kimberly; McCray, Alexa T.; Nagy, Anna; Dasari, Surendra; Lanpher, Brendan C.; Lanza, Ian R.; Morava, Eva; Oglesbee, Devin; Bademci, Guney; Barbouth, Deborah; Bivona, Stephanie; Carrasquillo, Olveen; Chang, Ta Chen Peter; Forghani, Irman; Grajewski, Alana; Isasi, Rosario; Lam, Byron; Levitt, Roy; Liu, Xue Zhong; McCauley, Jacob; Sacco, Ralph; Saporta, Mario; Schaechter, Judy; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Zuchner, Stephan; Colley, Heather A.; Dayal, Jyoti G.; Eckstein, David J.; Findley, Laurie C.; Krasnewich, Donna M.; Mamounas, Laura A.; Manolio, Teri A.; Mulvihill, John J.; LaMoure, Grace L.; Goldrich, Madison P.; Urv, Tiina K.; Doss, Argenia L.; Acosta, Maria T.; Bonnenmann, Carsten; D’Souza, Precilla; Draper, David D.; Ferreira, Carlos; Godfrey, Rena A.; Groden, Catherine A.; Maduro, Valerie V.; Markello, Thomas C.; Nath, Avi; Novacic, Donna; Pusey, Barbara N.; Wahl, Colleen E.; Baker, Eva; Burke, Elizabeth A.; Adams, David R.; Malicdan, May Christine V.; Tifft, Cynthia J.; Yang, John; Power, Bradley; Gochuico, Bernadette; Huryn, Laryssa; Latham, Lea; Davis, Joie; Mosbrook-Davis, Deborah; Rossignol, Francis; Solomon, Ben; MacDowall, John; Thurm, Audrey; Zein, Wadih; Yousef, Muhammad; Adam, Margaret; Amendola, Laura; Bamshad, Michael; Beck, Anita; Bennett, Jimmy; Berg-Rood, Beverly; Blue, Elizabeth; Boyd, Brenna; Byers, Peter; Chanprasert, Sirisak; Cunningham, Michael; Dipple, Katrina; Doherty, Daniel; Earl, Dawn; Glass, Ian; Golden-Grant, Katie; Hahn, Sihoun; Hing, Anne; Hisama, Fuki M.; Horike-Pyne, Martha; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Lam, Christina; Maravilla, Kenneth; Mefford, Heather; Merritt, J. Lawrence; Mirzaa, Ghayda; Nickerson, Deborah; Raskind, Wendy; Rosenwasser, Natalie; Scott, C. Ron; Sun, Angela; Sybert, Virginia; Wallace, Stephanie; Wener, Mark; Wenger, Tara; Ashley, Euan A.; Bejerano, Gill; Bernstein, Jonathan A.; Bonner, Devon; Coakley, Terra R.; Fernandez, Liliana; Fisher, Paul G.; Fresard, Laure; Hom, Jason; Huang, Yong; Kohler, Jennefer N.; Kravets, Elijah; Majcherska, Marta M.; Martin, Beth A.; Marwaha, Shruti; McCormack, Colleen E.; Raja, Archana N.; Reuter, Chloe M.; Ruzhnikov, Maura; Sampson, Jacinda B.; Smith, Kevin S.; Sutton, Shirley; Tabor, Holly K.; Tucker, Brianna M.; Wheeler, Matthew T.; Zastrow, Diane B.; Zhao, Chunli; Byrd, William E.; Crouse, Andrew B.; Might, Matthew; Nakano-Okuno, Mariko; Whitlock, Jordan; Brown, Gabrielle; Butte, Manish J.; Dell’Angelica, Esteban C.; Dorrani, Naghmeh; Douine, Emilie D.; Fogel, Brent L.; Gutierrez, Irma; Huang, Alden; Krakow, Deborah; Lee, Hane; Loo, Sandra K.; Mak, Bryan C.; Martin, Martin G.; Martínez-Agosto, Julian A.; McGee, Elisabeth; Nelson, Stanley F.; Nieves-Rodriguez, Shirley; Palmer, Christina G.S.; Papp, Jeanette C.; Parker, Neil H.; Renteria, Genecee; Signer, Rebecca H.; Sinsheimer, Janet S.; Wan, Jijun; Wang, Lee kai; Perry, Katherine Wesseling; Woods, Jeremy D.; Alvey, Justin; Andrews, Ashley; Bale, Jim; Bohnsack, John; Botto, Lorenzo; Carey, John; Pace, Laura; Longo, Nicola; Marth, Gabor; Quinlan, Aaron; Velinder, Matt; Viskochil, Dave; Bayrak-Toydemir, Pinar; Mao, Rong; Westerfield, Monte; Bican, Anna; Duncan, Laura; Hamid, Rizwan; Kennedy, Jennifer; Kozuira, Mary; Newman, John H.; Phillips, John A.; Rives, Lynette; Robertson, Amy K.; Solem, Emily; Cogan, Joy D.; Cole, F. Sessions; Hayes, Nichole; Kiley, Dana; Sisco, Kathy; Wambach, Jennifer; Wegner, Daniel; Baldridge, Dustin; Pak, Stephen; Schedl, Timothy; Shin, Jimann; Solnica-Krezel, Lilianna; Waisfisz, Quinten; Zwijnenburg, Petra J.G.; Ziegler, Alban; Barth, Magalie; Smith, Rosemarie; Ellingwood, Sara; Gaebler-Spira, Deborah; Bakhtiari, Somayeh; Kruer, Michael C.; van Kampen, Antoine H.C.; Wanders, Ronald J.A.; Waterham, Hans R.; Cassiman, David; Vaz, Frédéric M.

Ferdinandusse, S, McWalter, K, te Brinke, H, IJlst, L, Mooijer, P M, Ruiter, J P N, van Lint, A E M, Pras-Raves, M, Wever, E, Millan, F, Guillen Sacoto, M J, Begtrup, A, Tarnopolsky, M, Brady, L, Ladda, R L, Sell, S L, Nowak, C B, Douglas, J, Tian, C, Ulm, E, Perlman, S, Drack, A V, Chong, K, Martin, N, Brault, J, Brokamp, E, Toro, C, Gahl, W A, Macnamara, E F, Wolfe, L A, Alejandro, M E, Azamian, M S, Bacino, C A, Balasubramanyam, A, Burrage, L C, Chao, H T, Clark, G D, Craigen, W J, Dai, H, Dhar, S U, Emrick, L T, Goldman, A M, Hanchard, N A, Jamal, F, Karaviti, L, Lalani, S R, Lee, B H, Lewis, R A, Marom, R, Moretti, P, Murdock, D R, Nicholas, S K, Orengo, J P, Posey, J E, Potocki, L, Rosenfeld, J A, Samson, S L, Scott, D A, Tran, A A, Vogel, T P, Wangler, M F, Yamamoto, S, Eng, C M, Liu, P, Ward, P A, Behrens, E, Deardorff, M, Falk, M, Hassey, K, Sullivan, K, Vanderver, A, Goldstein, D B, Cope, H, McConkie-Rosell, A, Schoch, K, Shashi, V, Smith, E C, Spillmann, R C, Sullivan, J A, Tan, Q K G, Walley, N M, Agrawal, P B, Beggs, A H, Berry, G T, Briere, L C, Cobban, L A, Coggins, M, Cooper, C M, Fieg, E L, High, F, Holm, I A, Korrick, S, Krier, J B, Lincoln, S A, Loscalzo, J, Maas, R L, MacRae, C A, Pallais, J C, Rao, D A, Rodan, L H, Silverman, E K, Stoler, J M, Sweetser, D A, Walker, M, Walsh, C A, Esteves, C, Kelley, E G, Kohane, I S, LeBlanc, K, McCray, A T, Nagy, A, Dasari, S, Lanpher, B C, Lanza, I R, Morava, E, Oglesbee, D, Bademci, G, Barbouth, D, Bivona, S, Carrasquillo, O, Chang, T C P, Forghani, I, Grajewski, A, Isasi, R, Lam, B, Levitt, R, Liu, X Z, McCauley, J, Sacco, R, Saporta, M, Schaechter, J, Tekin, M, Telischi, F, Thorson, W, Zuchner, S, Colley, H A, Dayal, J G, Eckstein, D J, Findley, L C, Krasnewich, D M, Mamounas, L A, Manolio, T A, Mulvihill, J J, LaMoure, G L, Goldrich, M P, Urv, T K, Doss, A L, Acosta, M T, Bonnenmann, C, D’Souza, P, Draper, D D, Ferreira, C, Godfrey, R A, Groden, C A, Macnamara, E F, Maduro, V V, Markello, T C, Nath, A, Novacic, D, Pusey, B N, Toro, C, Wahl, C E, Baker, E, Burke, E A, Adams, D R, Gahl, W A, Malicdan, M C V, Tifft, C J, Wolfe, L A, Yang, J, Power, B, Gochuico, B, Huryn, L, Latham, L, Davis, J, Mosbrook-Davis, D, Rossignol, F, Solomon, B, MacDowall, J, Thurm, A, Zein, W, Yousef, M, Adam, M, Amendola, L, Bamshad, M, Beck, A, Bennett, J, Berg-Rood, B, Blue, E, Boyd, B, Byers, P, Chanprasert, S, Cunningham, M, Dipple, K, Doherty, D, Earl, D, Glass, I, Golden-Grant, K, Hahn, S, Hing, A, Hisama, F M, Horike-Pyne, M, Jarvik, G P, Jarvik, J, Jayadev, S, Lam, C, Maravilla, K, Mefford, H, Merritt, J L, Mirzaa, G, Nickerson, D, Raskind, W, Rosenwasser, N, Scott, C R, Sun, A, Sybert, V, Wallace, S, Wener, M, Wenger, T, Ashley, E A, Bejerano, G, Bernstein, J A, Bonner, D, Coakley, T R, Fernandez, L, Fisher, P G, Fresard, L, Hom, J, Huang, Y, Kohler, J N, Kravets, E, Majcherska, M M, Martin, B A, Marwaha, S, McCormack, C E, Raja, A N, Reuter, C M, Ruzhnikov, M, Sampson, J B, Smith, K S, Sutton, S, Tabor, H K, Tucker, B M, Wheeler, M T, Zastrow, D B, Zhao, C, Byrd, W E, Crouse, A B, Might, M, Nakano-Okuno, M, Whitlock, J, Brown, G, Butte, M J, Dell’Angelica, E C, Dorrani, N, Douine, E D, Fogel, B L, Gutierrez, I, Huang, A, Krakow, D, Lee, H, Loo, S K, Mak, B C, Martin, M G, Martínez-Agosto, J A, McGee, E, Nelson, S F, Nieves-Rodriguez, S, Palmer, C G S, Papp, J C, Parker, N H, Renteria, G, Signer, R H, Sinsheimer, J S, Wan, J, Wang, L K, Perry, K W, Woods, J D, Alvey, J, Andrews, A, Bale, J, Bohnsack, J, Botto, L, Carey, J, Pace, L, Longo, N, Marth, G, Moretti, P, Quinlan, A, Velinder, M, Viskochil, D, Bayrak-Toydemir, P, Mao, R, Westerfield, M, Bican, A, Brokamp, E, Duncan, L, Hamid, R, Kennedy, J, Kozuira, M, Newman, J H, Phillips, J A, Rives, L, Robertson, A K, Solem, E, Cogan, J D, Cole, F S, Hayes, N, Kiley, D, Sisco, K, Wambach, J, Wegner, D, Baldridge, D, Pak, S, Schedl, T, Shin, J, Solnica-Krezel, L, Waisfisz, Q, Zwijnenburg, P J G, Ziegler, A, Barth, M, Smith, R, Ellingwood, S, Gaebler-Spira, D, Bakhtiari, S, Kruer, M C, van Kampen, A H C, Wanders, R J A, Waterham, H R, Cassiman, D, Vaz, F M & Undiagnosed Diseases Network 2021, 'Correction to : An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids (Genetics in Medicine, (2021), 23, 4, (740-750), 10.1038/s41436-020-01027-3)', Genetics in Medicine. https://doi.org/10.1038/s41436-021-01189-8

Elliot S. Stolerman; Elizabeth Francisco; Jennifer L. Stallworth; Julie R. Jones; Kristin G. Monaghan; Jennifer Keller‐Ramey; Richard Person; Ingrid M. Wentzensen; Kirsty McWalter; Boris Keren; Benedicte Heron; Caroline Nava; Delphine Heron; Katherine Kim; Barbara Burton; Fatima Al‐Musafri; Lauren O'Grady; Inderneel Sahai; Luis F. Escobar; Marije Meuwissen; Edwin Reyniers; Frank Kooy; Yves Lacassie; Meral Gunay‐Aygun; Krista Sondergaard Schatz; Ron Hochstenbach; Petra J.G. Zwijnenburg; Quinten Waisfisz; Marjon van Slegtenhorst; Grazia M.S. Mancini; Raymond J. Louie

Stolerman, E S, Francisco, E, Stallworth, J L, Jones, J R, Monaghan, K G, Keller-Ramey, J, Person, R, Wentzensen, I M, McWalter, K, Keren, B, Heron, B, Nava, C, Heron, D, Kim, K, Burton, B, Al-Musafri, F, O'Grady, L, Sahai, I, Escobar, L F, Meuwissen, M, Reyniers, E, Kooy, F, Lacassie, Y, Gunay-Aygun, M, Schatz, K S, Hochstenbach, R, Zwijnenburg, P J G, Waisfisz, Q, van Slegtenhorst, M, Mancini, G M S & Louie, R J 2019, 'Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features', American Journal of Medical Genetics, Part A, vol. 179, no. 7, pp. 1276-1286. https://doi.org/10.1002/ajmg.a.61173
American journal of medical genetics : part A

Eline Overwater; Luisa Marsili; Marieke J.H. Baars; Annette F. Baas; Irma van de Beek; Eelco Dulfer; Johanna M. van Hagen; Yvonne Hilhorst-Hofstee; Marlies Kempers; Ingrid P. Krapels; Leonie A. Menke; Judith M.A. Verhagen; Kak K. Yeung; Petra J.G. Zwijnenburg; Maarten Groenink; Peter van Rijn; Marjan M. Weiss; Els Voorhoeve; J. Peter van Tintelen; Arjan C. Houweling; Alessandra Maugeri

Hum Mutat
Overwater, E, Marsili, L, Baars, M J H, Baas, A F, van de Beek, I, Dulfer, E, van Hagen, J M, Hilhorst-Hofstee, Y, Kempers, M, Krapels, I P, Menke, L A, Verhagen, J M A, Yeung, K K, Zwijnenburg, P J G, Groenink, M, van Rijn, P, Weiss, M M, Voorhoeve, E, van Tintelen, J P, Houweling, A C & Maugeri, A 2018, 'Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders', Human Mutation, vol. 39, no. 9, pp. 1173-1192. https://doi.org/10.1002/humu.23565
Human Mutation, 39, 9, pp. 1173-1192

Westland, Rik ; Verbitsky, Miguel ; Vukojevic, Katarina ; Perry, Brittany J. ; Fasel, David A. ; Zwijnenburg, Petra J.G. ; Bökenkamp, Arend ; Gille, Johan J.P. ; Saraga-Babic, Mirna ; Ghiggeri, Gian Marco ; D'Agati, Vivette D. ; Schreuder, Michiel F. ; Gharavi, Ali G. ; van Wijk, Joanna A.E. ; Sanna-Cherchi, Simone

In Kidney International December 2015 88(6):1402-1410

Teeuw, Marieke ; Waisfisz, Quinten ; Zwijnenburg, Petra J.G. ; Sistermans, Erik A. ; Weiss, Marjan M. ; Henneman, Lidewij ; ten Kate, Leo P. ; Cornel, Martina C. ; Meijers-Heijboer, Hanne

In European Journal of Medical Genetics November-December 2014 57(11-12):613-616

Zwijnenburg, Petra J.G.; de Bie, Henrica M.A.; Roord, John J.; van der Poll, Tom; van Furth, A.Marceline

Journal of Neuroimmunology. 145(1):148-153

Zwijnenburg, Petra J.G.; van der Poll, Tom; Florquin, Sandrine; Akira, Shizuo; Takeda, Kiyoshi; Roord, John J.; van Furth, A.Marceline

Journal of Neuroimmunology. 138(1):31-37

Zwijnenburg, Petra J.G.; Polfliet, Machteld M.J.; Florquin, Sandrine; van den Berg, Timo K.; Dijkstra, Christine D.; van Deventer, Sander J.H.; Roord, John J.; van der Poll, Tom; van Furth, A.Marceline

Immunology Letters. 85(1):1-4

Cappello, Silvia; Gray, Mary J.; Badouel, Caroline; Lange, Simona; Einsiedler, Melanie; Srour, Myriam; Chitayat, David; Hamdan, Fadi F.; Jenkins, Zandra A.; Morgan, Tim; Preitner, Nadia; Uster, Tami; Thomas, Jackie; Shannon, Patrick; Morrison, Victoria; Di Donato, Nataliya; Van Maldergem, Lionel; Neuhann, Teresa; Newbury-Ecob, Ruth; Swinkells, Marielle; Terhal, Paulien; Wilson, Louise C.; Zwijnenburg, Petra J.G.; Sutherland-Smith, Andrew J.; Black, Michael A.; Markie, David; Michaud, Jacques L.; Simpson, Michael A.; Mansour, Sahar; McNeill, Helen; Gotz, Magdalena; Robertson, Stephen P.

Nature Genetics. November 1, 2013, Vol. 45 Issue 11, p1300, 11 p.

Westland, Rik; Verbitsky, Miguel; Vukojevic, Katharina; Perry, Brittany J.; Fasel, David A.; Zwijnenburg, Petra J.G.; Gille, Johan J.P.; Bokenkamp, Arend; DʼAgati, Vivette D.; Gharavi, Ali G.; Schreuder, Michiel F.; Van Wijk, Joanna A.E.; Sanna-Cherchi, Simone

Nephrology Dialysis Transplanation. May 01, 2014 29(suppl_3 Suppl 3):iii3-iii4

Lemmens, Robin; Maugeri, Alessandra; Niessen, Hans W. M.; Goris, An; Tousseyn, Thomas; Demaerel, Philippe; Corveleyn, Anniek; Robberecht, Wim; van der Knaap, Marjo S.; Thijs, Vincent N.; Zwijnenburg, Petra J.G.

Human Molecular Genetics. Jan 15, 2013 22(2):391-397

Zwijnenburg, Petra J.G.; van der Poll, Tom; Florquin, Sandrine; Polffliet, Machteld M.J.; van den Berg, Timo K.; Dijkstra, Christine D.; Roord, John J.; Hack, C. Erik; van Furth, A. Marceline

Journal of Infectious Diseases. July 1, 2007, Vol. 196 Issue 1, p115, 9 p.