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European journal of human genetics : EJHG, 2016-08, Vol.24 (9), p.1235-1243
2016
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American journal of human genetics, 2012-06, Vol.90 (6), p.941-949
2012
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Nature communications, 2021-08, Vol.12 (1), p.4680-4680, Article 4680
- Timberlake, Andrew T.
- Griffin, Casey
- Heike, Carrie L.
- Hing, Anne V.
- Cunningham, Michael L.
- Chitayat, David
- Davis, Mark R.
- Doust, Soghra J.
- Drake, Amelia F.
- Duenas-Roque, Milagros M.
- Goldblatt, Jack
- Gustafson, Jonas A.
- Hurtado-Villa, Paula
- Johns, Alexis
- Karp, Natalya
- Laing, Nigel G.
- Magee, Leanne
- Mullegama, Sureni V.
- Pachajoa, Harry
- Porras-Hurtado, Gloria L.
- Schnur, Rhonda E.
- Slee, Jennie
- Singer, Steven L.
- Staffenberg, David A.
- Timms, Andrew E.
- Wise, Cheryl A.
- Zarante, Ignacio
- Saint-Jeannet, Jean-Pierre
- Luquetti, Daniela V.
2021
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Proceedings of the National Academy of Sciences - PNAS, 2023-05, Vol.120 (21), p.e2302584120-e2302584120
- Larsen, Ida Signe Bohse
- Povolo, Lorenzo
- Zhou, Luping
- Tian, Weihua
- Mygind, Kasper Johansen
- Hintze, John
- Jiang, Chen
- Hartill, Verity
- Prescott, Katrina
- Johnson, Colin A
- Mullegama, Sureni V
- McConkie-Rosell, Allyn
- McDonald, Marie
- Hansen, Lars
- Vakhrushev, Sergey Y
- Schjoldager, Katrine T
- Clausen, Henrik
- Worzfeld, Thomas
- Joshi, Hiren J
- Halim, Adnan
2023
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International journal of molecular sciences, 2015-04, Vol.16 (4), p.7627-7643
2015
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Scientific reports, 2021-05, Vol.11 (1), p.11295-11295, Article 11295
2021
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PloS one, 2014-08, Vol.9 (8), p.e105077
2014
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European journal of human genetics : EJHG, 2014-01, Vol.22 (1), p.57-63
- Mullegama, Sureni V
- Rosenfeld, Jill A
- Orellana, Carmen
- van Bon, Bregje W M
- Halbach, Sara
- Repnikova, Elena A
- Brick, Lauren
- Li, Chumei
- Dupuis, Lucie
- Rosello, Monica
- Aradhya, Swaroop
- Stavropoulos, D James
- Manickam, Kandamurugu
- Mitchell, Elyse
- Hodge, Jennelle C
- Talkowski, Michael E
- Gusella, James F
- Keller, Kory
- Zonana, Jonathan
- Schwartz, Stuart
- Pyatt, Robert E
- Waggoner, Darrel J
- Shaffer, Lisa G
- Lin, Angela E
- de Vries, Bert B A
- Mendoza-Londono, Roberto
- Elsea, Sarah H
2014
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Brain sciences, 2021-07, Vol.11 (7), p.931
2021
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Mosaic RAI1 variant in a Smith–Magenis syndrome patient with total anomalous pulmonary venous return
2022
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The journal of allergy and clinical immunology in practice (Cambridge, MA), 2017-09, Vol.5 (5), p.1344-1350.e3
2017
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American journal of human genetics, 2023-01, Vol.110 (1), p.120-145
- Paul, Maimuna S.
- Duncan, Anna R.
- Genetti, Casie A.
- Pan, Hongling
- Jackson, Adam
- Grant, Patricia E.
- Shi, Jiahai
- Pinelli, Michele
- Brunetti-Pierri, Nicola
- Garza-Flores, Alexandra
- Shahani, Dave
- Saneto, Russell P.
- Zampino, Giuseppe
- Leoni, Chiara
- Agolini, Emanuele
- Novelli, Antonio
- Blümlein, Ulrike
- Haack, Tobias B.
- Heinritz, Wolfram
- Matzker, Eva
- Alhaddad, Bader
- Abou Jamra, Rami
- Bartolomaeus, Tobias
- AlHamdan, Saber
- Carapito, Raphael
- Isidor, Bertrand
- Bahram, Seiamak
- Ritter, Alyssa
- Izumi, Kosuke
- Shakked, Ben Pode
- Barel, Ortal
- Ben Zeev, Bruria
- Begtrup, Amber
- Carere, Deanna Alexis
- Mullegama, Sureni V.
- Palculict, Timothy Blake
- Calame, Daniel G.
- Schwan, Katharina
- Aycinena, Alicia R.P.
- Traberg, Rasa
- Douzgou, Sofia
- Pirt, Harrison
- Ismayilova, Naila
- Banka, Siddharth
- Chao, Hsiao-Tuan
- Agrawal, Pankaj B.
2023
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European journal of human genetics : EJHG, 2016-08, Vol.24 (9), p.1376-1376
2016
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American journal of human genetics, 2024-06, Vol.111 (6), p.1240-1240
- Mullegama, Sureni V.
- Kiernan, Kaitlyn A.
- Torti, Erin
- Pavlovsky, Ethan
- Tilton, Nicholas
- Sekula, Austin
- Gao, Hua
- Alaimo, Joseph T.
- Engleman, Kendra
- Rush, Eric T.
- Blocker, Karli
- Dipple, Katrina M.
- Fettig, Veronica M.
- Hare, Heather
- Glass, Ian
- Grange, Dorothy K.
- Griffin, Michael
- Phornphutkul, Chanika
- Massingham, Lauren
- Mehta, Lakshmi
- Miller, Danny E.
- Thies, Jenny
- Merritt, J Lawrence
- Muller, Eric
- Osmond, Matthew
- Sawyer, Sarah L.
- Slaugh, Rachel
- Hickey, Rachel E.
- Wolf, Barry
- Choudhary, Sanjeev
- Simonović, Miljan
- Zhang, Yueqing
- Palculict, Timothy Blake
- Telegrafi, Aida
- Carere, Deanna Alexis
- Wentzensen, Ingrid M.
- Morrow, Michelle M.
- Monaghan, Kristin G.
- Juusola, Jane
- Yang, Jun
2024
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American journal of human genetics, 2011-10, Vol.89 (4), p.551-563
- Talkowski, Michael E.
- Mullegama, Sureni V.
- Rosenfeld, Jill A.
- van Bon, Bregje W.M.
- Shen, Yiping
- Repnikova, Elena A.
- Gastier-Foster, Julie
- Thrush, Devon Lamb
- Kathiresan, Sekar
- Ruderfer, Douglas M.
- Chiang, Colby
- Hanscom, Carrie
- Ernst, Carl
- Lindgren, Amelia M.
- Morton, Cynthia C.
- An, Yu
- Astbury, Caroline
- Brueton, Louise A.
- Lichtenbelt, Klaske D.
- Ades, Lesley C.
- Fichera, Marco
- Romano, Corrado
- Innis, Jeffrey W.
- Williams, Charles A.
- Bartholomew, Dennis
- Van Allen, Margot I.
- Parikh, Aditi
- Zhang, Lilei
- Wu, Bai-Lin
- Pyatt, Robert E.
- Schwartz, Stuart
- Shaffer, Lisa G.
- de Vries, Bert B.A.
- Gusella, James F.
- Elsea, Sarah H.
2011
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Genetics in medicine, 2022-09, Vol.24 (9), p.1952-1966
- Dias, Kerith-Rae
- Carlston, Colleen M.
- Blok, Laura E.R.
- De Hayr, Lachlan
- Nawaz, Urwah
- Evans, Carey-Anne
- Bayrak-Toydemir, Pinar
- Htun, Stephanie
- Zhu, Ying
- Ma, Alan
- Lynch, Sally Ann
- Moorwood, Catherine
- Stals, Karen
- Ellard, Sian
- Bainbridge, Matthew N.
- Friedman, Jennifer
- Pappas, John G.
- Rabin, Rachel
- Nowak, Catherine B.
- Douglas, Jessica
- Wilson, Theodore E.
- Guillen Sacoto, Maria J.
- Mullegama, Sureni V.
- Palculict, Timothy Blake
- Kirk, Edwin P.
- Pinner, Jason R.
- Edwards, Matthew
- Montanari, Francesca
- Graziano, Claudio
- Pippucci, Tommaso
- Dingmann, Bri
- Glass, Ian
- Mefford, Heather C.
- Shimoji, Takeyoshi
- Suzuki, Toshimitsu
- Yamakawa, Kazuhiro
- Streff, Haley
- Schaaf, Christian P.
- Slavotinek, Anne M.
- Voineagu, Irina
- Carey, John C.
- Buckley, Michael F.
- Schenck, Annette
- Harvey, Robert J.
- Roscioli, Tony
2022
Link zum Volltext
American journal of human genetics, 2023-03, Vol.110 (3), p.548-548
- Paul, Maimuna S.
- Duncan, Anna R.
- Genetti, Casie A.
- Pan, Hongling
- Jackson, Adam
- Grant, Patricia E.
- Shi, Jiahai
- Pinelli, Michele
- Brunetti-Pierri, Nicola
- Garza-Flores, Alexandra
- Shahani, Dave
- Saneto, Russell P.
- Zampino, Giuseppe
- Leoni, Chiara
- Agolini, Emanuele
- Novelli, Antonio
- Blümlein Tobias B. Haack, Ulrike
- Heinritz, Wolfram
- Matzker, Eva
- Alhaddad, Bader
- Jamra, Rami Abou
- Bartolomaeus, Tobias
- AlHamdan, Saber
- Carapito, Raphael
- Isidor, Bertrand
- Bahram, Seiamak
- Ritter, Alyssa
- Izumi, Kosuke
- Shakked, Ben Pode
- Barel, Ortal
- Ben Zeev, Bruria
- Begtrup, Amber
- Carere, Deanna Alexis
- Mullegama, Sureni V.
- Palculict, Timothy Blake
- Calame, Daniel G.
- Schwan, Katharina
- Aycinena, Alicia R.P.
- Traberg, Rasa
- Douzgou, Sofia
- Pirt, Harrison
- Ismayilova, Naila
- Banka, Siddharth
- Chao, Hsiao-Tuan
- Agrawal, Pankaj B.
2023
Link zum Volltext
European journal of human genetics : EJHG, 2015-06, Vol.23 (6), p.781-789
2015
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Human mutation, 2017-12, Vol.38 (12), p.1774-1785
2017
Link zum Volltext
Genetics in medicine, 2023-04, Vol.25 (4), p.100003-100003, Article 100003
- Ramond, Francis
- Dalgliesh, Caroline
- Grimmel, Mona
- Wechsberg, Oded
- Vetro, Annalisa
- Guerrini, Renzo
- FitzPatrick, David
- Poole, Rebecca L.
- Lebrun, Marine
- Bayat, Allan
- Grasshoff, Ute
- Bertrand, Miriam
- Witt, Dennis
- Turnpenny, Peter D.
- Faundes, Víctor
- Santa María, Lorena
- Mendoza Fuentes, Carolina
- Mabe, Paulina
- Hussain, Shaun A.
- Mullegama, Sureni V.
- Torti, Erin
- Oehl-Jaschkowitz, Barbara
- Salmon, Lina Basel
- Orenstein, Naama
- Shahar, Noa Ruhrman
- Hagari, Ofir
- Bazak, Lily
- Hoffjan, Sabine
- Prada, Carlos E.
- Haack, Tobias
- Elliott, David J.
2023
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American journal of medical genetics. Part A, 2017-05, Vol.173 (5), p.1319-1327
2017
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Research in developmental disabilities, 2015-12, Vol.47, p.27-38
2015
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Molecular genetics & genomic medicine, 2019-02, Vol.7 (2), p.e00501-n/a
2019
Link zum Volltext
Genetics in medicine, 2017-12, Vol.19 (12), p.1380-1381
2017
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European journal of human genetics : EJHG, 2010-04, Vol.18 (4), p.436-441
2010
Link zum Volltext
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