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Science translational medicine, 2014-09, Vol.6 (252), p.252ra123
- Zemojtel, Tomasz
- Köhler, Sebastian
- Mackenroth, Luisa
- Jäger, Marten
- Hecht, Jochen
- Krawitz, Peter
- Graul-Neumann, Luitgard
- Doelken, Sandra
- Ehmke, Nadja
- Spielmann, Malte
- Oien, Nancy Christine
- Schweiger, Michal R
- Krüger, Ulrike
- Frommer, Götz
- Fischer, Björn
- Kornak, Uwe
- Flöttmann, Ricarda
- Ardeshirdavani, Amin
- Moreau, Yves
- Lewis, Suzanna E
- Haendel, Melissa
- Smedley, Damian
- Horn, Denise
- Mundlos, Stefan
- Robinson, Peter N
2014
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Nature communications, 2018-10, Vol.9 (1), p.4250-17, Article 4250
- Latham, Sharissa L
- Ehmke, Nadja
- Reinke, Patrick Y A
- Taft, Manuel H
- Eicke, Dorothee
- Reindl, Theresia
- Stenzel, Werner
- Lyons, Michael J
- Friez, Michael J
- Lee, Jennifer A
- Hecker, Ramona
- Frühwald, Michael C
- Becker, Kerstin
- Neuhann, Teresa M
- Horn, Denise
- Schrock, Evelin
- Niehaus, Indra
- Sarnow, Katharina
- Grützmann, Konrad
- Gawehn, Luzie
- Klink, Barbara
- Rump, Andreas
- Chaponnier, Christine
- Figueiredo, Constanca
- Knöfler, Ralf
- Manstein, Dietmar J
- Di Donato, Nataliya
2018
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Arthritis & rheumatology (Hoboken, N.J.), 2017-10, Vol.69 (10), p.2081-2091
- de Carvalho, Luciana Martins
- Ngoumou, Gonza
- Park, Ji Woo
- Ehmke, Nadja
- Deigendesch, Nikolaus
- Kitabayashi, Naoki
- Melki, Isabelle
- Souza, Flávio Falcäo L.
- Tzschach, Andreas
- Nogueira‐Barbosa, Marcello H.
- Ferriani, Virgínia
- Louzada‐Junior, Paulo
- Marques, Wilson
- Lourenço, Charles M.
- Horn, Denise
- Kallinich, Tilmann
- Stenzel, Werner
- Hur, Sun
- Rice, Gillian I.
- Crow, Yanick J.
2017
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Genetics in medicine, 2021-04, Vol.23 (4), p.679-688
2021
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Genetics in medicine, 2021-06, Vol.23 (6), p.1050-1057
- Zarate, Yuri A.
- Uehara, Tomoko
- Abe, Kota
- Oginuma, Masayuki
- Harako, Sora
- Ishitani, Shizuka
- Lehesjoki, Anna-Elina
- Bierhals, Tatjana
- Kloth, Katja
- Ehmke, Nadja
- Horn, Denise
- Holtgrewe, Manuel
- Anderson, Katherine
- Viskochil, David
- Edgar-Zarate, Courtney L.
- Sacoto, Maria J. Guillen
- Schnur, Rhonda E.
- Morrow, Michelle M.
- Sanchez-Valle, Amarilis
- Pappas, John
- Rabin, Rachel
- Muona, Mikko
- Anttonen, Anna-Kaisa
- Platzer, Konrad
- Luppe, Johannes
- Gburek-Augustat, Janina
- Kaname, Tadashi
- Okamoto, Nobuhiko
- Mizuno, Seiji
- Kaido, Yusaku
- Ohkuma, Yoshiaki
- Hirose, Yutaka
- Ishitani, Tohru
- Kosaki, Kenjiro
2021
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American journal of medical genetics. Part A, 2020-09, Vol.182 (9), p.2068-2076
2020
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American journal of medical genetics. Part A, 2016-10, Vol.170A (10), p.2681-2693
- Menke, Leonie A.
- van Belzen, Martine J.
- Alders, Marielle
- Cristofoli, Francesca
- Ehmke, Nadja
- Fergelot, Patricia
- Foster, Alison
- Gerkes, Erica H.
- Hoffer, Mariëtte J. V.
- Horn, Denise
- Kant, Sarina G.
- Lacombe, Didier
- Leon, Eyby
- Maas, Saskia M.
- Melis, Daniela
- Muto, Valentina
- Park, Soo-Mi
- Peeters, Hilde
- Peters, Dorien J. M.
- Pfundt, Rolph
- van Ravenswaaij-Arts, Conny M. A.
- Tartaglia, Marco
- Hennekam, Raoul C. M.
2016
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Nature communications, 2018-11, Vol.9 (1), p.4930-1, Article 4930
- Latham, Sharissa L
- Ehmke, Nadja
- Reinke, Patrick Y A
- Taft, Manuel H
- Eicke, Dorothee
- Reindl, Theresia
- Stenzel, Werner
- Lyons, Michael J
- Friez, Michael J
- Lee, Jennifer A
- Hecker, Ramona
- Frühwald, Michael C
- Becker, Kerstin
- Neuhann, Teresa M
- Horn, Denise
- Schrock, Evelin
- Niehaus, Indra
- Sarnow, Katharina
- Grützmann, Konrad
- Gawehn, Luzie
- Klink, Barbara
- Rump, Andreas
- Chaponnier, Christine
- Figueiredo, Constanca
- Knöfler, Ralf
- Manstein, Dietmar J
- Di Donato, Nataliya
2018
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Nucleic acids research, 2019-07, Vol.47 (W1), p.W114
2019
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Nature genetics, 2022-03, Vol.54 (3), p.349-357
- Hsieh, Tzung-Chien
- Bar-Haim, Aviram
- Moosa, Shahida
- Ehmke, Nadja
- Gripp, Karen W
- Pantel, Jean Tori
- Danyel, Magdalena
- Mensah, Martin Atta
- Horn, Denise
- Rosnev, Stanislav
- Fleischer, Nicole
- Bonini, Guilherme
- Hustinx, Alexander
- Schmid, Alexander
- Knaus, Alexej
- Javanmardi, Behnam
- Klinkhammer, Hannah
- Lesmann, Hellen
- Sivalingam, Sugirthan
- Kamphans, Tom
- Meiswinkel, Wolfgang
- Ebstein, Frédéric
- Krüger, Elke
- Küry, Sébastien
- Bézieau, Stéphane
- Schmidt, Axel
- Peters, Sophia
- Engels, Hartmut
- Mangold, Elisabeth
- Kreiß, Martina
- Cremer, Kirsten
- Perne, Claudia
- Betz, Regina C
- Bender, Tim
- Grundmann-Hauser, Kathrin
- Haack, Tobias B
- Wagner, Matias
- Brunet, Theresa
- Bentzen, Heidi Beate
- Averdunk, Luisa
- Coetzer, Kimberly Christine
- Lyon, Gholson J
- Spielmann, Malte
- Schaaf, Christian P
- Mundlos, Stefan
- Nöthen, Markus M
- Krawitz, Peter M
2022
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Rheumatology (Oxford, England), 2023-04, Vol.62 (4), p.1699-1705
- Körholz, Julia
- Gabrielyan, Anastasia
- Sczakiel, Henrike Lisa
- Schulze, Livia
- Rejzek, Manuela
- Laass, Martin W
- Leuchten, Nicolai
- Tiebel, Oliver
- Aust, Diana
- Conrad, Karsten
- Röber, Nadja
- Jacobsen, Eva-Maria
- Ehmke, Nadja
- Berner, Reinhard
- Lucas, Nadja
- Lee-Kirsch, Minae A
- Wiedemuth, Ralf
- Roesler, Joachim
- Roers, Axel
- Amendt, Timm
- Schuetz, Catharina
2023
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RNA analysis and computer-aided facial phenotyping help to classify a novel TRIO splice site variant
2024
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The journal of clinical endocrinology and metabolism, 2022-06, Vol.107 (7), p.e3048-e3057
2022
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Human genetics, 2024-05, Vol.143 (5), p.683-694
2024
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American journal of human genetics, 2019-09, Vol.105 (3), p.631-639
- Fischer-Zirnsak, Björn
- Segebrecht, Lara
- Schubach, Max
- Charles, Perrine
- Alderman, Emily
- Brown, Kathleen
- Cadieux-Dion, Maxime
- Cartwright, Tracy
- Chen, Yanmin
- Costin, Carrie
- Fehr, Sarah
- Fitzgerald, Keely M.
- Fleming, Emily
- Foss, Kimberly
- Ha, Thoa
- Hildebrand, Gabriele
- Horn, Denise
- Liu, Shuxi
- Marco, Elysa J.
- McDonald, Marie
- McWalter, Kirsty
- Race, Simone
- Rush, Eric T.
- Si, Yue
- Saunders, Carol
- Slavotinek, Anne
- Stockler-Ipsiroglu, Sylvia
- Telegrafi, Aida
- Thiffault, Isabelle
- Torti, Erin
- Tsai, Anne Chun-hui
- Wang, Xin
- Zafar, Muhammad
- Keren, Boris
- Kornak, Uwe
- Boerkoel, Cornelius F.
- Mirzaa, Ghayda
- Ehmke, Nadja
2019
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Genetics in medicine, 2019-12, Vol.21 (12), p.2807-2814
- Hsieh, Tzung-Chien
- Mensah, Martin A
- Pantel, Jean T
- Aguilar, Dione
- Bar, Omri
- Bayat, Allan
- Becerra-Solano, Luis
- Bentzen, Heidi B
- Biskup, Saskia
- Borisov, Oleg
- Braaten, Oivind
- Ciaccio, Claudia
- Coutelier, Marie
- Cremer, Kirsten
- Danyel, Magdalena
- Daschkey, Svenja
- Eden, Hilda David
- Devriendt, Koenraad
- Wilson, Sandra
- Douzgou, Sofia
- Đukić, Dejan
- Ehmke, Nadja
- Fauth, Christine
- Fischer-Zirnsak, Björn
- Fleischer, Nicole
- Gabriel, Heinz
- Graul-Neumann, Luitgard
- Gripp, Karen W
- Gurovich, Yaron
- Gusina, Asya
- Haddad, Nechama
- Hajjir, Nurulhuda
- Hanani, Yair
- Hertzberg, Jakob
- Hoertnagel, Konstanze
- Howell, Janelle
- Ivanovski, Ivan
- Kaindl, Angela
- Kamphans, Tom
- Kamphausen, Susanne
- Karimov, Catherine
- Kathom, Hadil
- Keryan, Anna
- Knaus, Alexej
- Köhler, Sebastian
- Kornak, Uwe
- Lavrov, Alexander
- Leitheiser, Maximilian
- Lyon, Gholson J
- Mangold, Elisabeth
- Reina, Purificación Marín
- Carrascal, Antonio Martinez
- Mitter, Diana
- Herrador, Laura Morlan
- Nadav, Guy
- Nöthen, Markus
- Orrico, Alfredo
- Ott, Claus-Eric
- Park, Kristen
- Peterlin, Borut
- Pölsler, Laura
- Raas-Rothschild, Annick
- Randolph, Linda
- Revencu, Nicole
- Fagerberg, Christina Ringmann
- Robinson, Peter Nick
- Rosnev, Stanislav
- Rudnik, Sabine
- Rudolf, Gorazd
- Schatz, Ulrich
- Schossig, Anna
- Schubach, Max
- Shanoon, Or
- Sheridan, Eamonn
- Smirin-Yosef, Pola
- Spielmann, Malte
- Suk, Eun-Kyung
- Sznajer, Yves
- Thiel, Christian T
- Thiel, Gundula
- Verloes, Alain
- Vrecar, Irena
- Wahl, Dagmar
- Weber, Ingrid
- Winter, Korina
- Wiśniewska, Marzena
- Wollnik, Bernd
- Yeung, Ming W
- Zhao, Max
- Zhu, Na
- Zschocke, Johannes
- Mundlos, Stefan
- Horn, Denise
- Krawitz, Peter M
2019
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American journal of human genetics, 2017-11, Vol.101 (5), p.833-843
- Ehmke, Nadja
- Graul-Neumann, Luitgard
- Smorag, Lukasz
- Koenig, Rainer
- Segebrecht, Lara
- Magoulas, Pilar
- Scaglia, Fernando
- Kilic, Esra
- Hennig, Anna F.
- Adolphs, Nicolai
- Saha, Namrata
- Fauler, Beatrix
- Kalscheuer, Vera M.
- Hennig, Friederike
- Altmüller, Janine
- Netzer, Christian
- Thiele, Holger
- Nürnberg, Peter
- Yigit, Gökhan
- Jäger, Marten
- Hecht, Jochen
- Krüger, Ulrike
- Mielke, Thorsten
- Krawitz, Peter M.
- Horn, Denise
- Schuelke, Markus
- Mundlos, Stefan
- Bacino, Carlos A.
- Bonnen, Penelope E.
- Wollnik, Bernd
- Fischer-Zirnsak, Björn
- Kornak, Uwe
2017
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Brain (London, England : 1878), 2020-12, Vol.143 (12), p.3564-3573
- Mochel, Fanny
- Rastetter, Agnès
- Ceulemans, Berten
- Platzer, Konrad
- Yang, Sandra
- Shinde, Deepali N
- Helbig, Katherine L
- Lopergolo, Diego
- Mari, Francesca
- Renieri, Alessandra
- Benetti, Elisa
- Canitano, Roberto
- Waisfisz, Quinten
- Plomp, Astrid S
- Huisman, Sylvia A
- Wilson, Golder N
- Cathey, Sara S
- Louie, Raymond J
- Gaudio, Daniela Del
- Waggoner, Darrel
- Kacker, Shawn
- Nugent, Kimberly M
- Roeder, Elizabeth R
- Bruel, Ange-Line
- Thevenon, Julien
- Ehmke, Nadja
- Horn, Denise
- Holtgrewe, Manuel
- Kaiser, Frank J
- Kamphausen, Susanne B
- Abou Jamra, Rami
- Weckhuysen, Sarah
- Dalle, Carine
- Depienne, Christel
2020
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American journal of medical genetics. Part A, 2017-06, Vol.173 (6), p.1694-1697
2017
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European journal of human genetics : EJHG, 2023-08, Vol.31 (8), p.905-917
- Sczakiel, Henrike L
- Zhao, Max
- Wollert-Wulf, Brigitte
- Danyel, Magdalena
- Ehmke, Nadja
- Stoltenburg, Corinna
- Damseh, Nadirah
- Al-Ashhab, Motee
- Balci, Tugce B
- Osmond, Matthew
- Andrade, Andrea
- Schallner, Jens
- Porrmann, Joseph
- McDonald, Kimberly
- Liao, Mingjuan
- Oppermann, Henry
- Platzer, Konrad
- Dierksen, Nadine
- Mojarrad, Majid
- Eslahi, Atieh
- Bakaeean, Behnaz
- Calame, Daniel G
- Lupski, James R
- Firoozfar, Zahra
- Seyedhassani, Seyed Mohammad
- Mohammadi, Seyed Ahmad
- Anwaar, Najwa
- Rahman, Fatima
- Seelow, Dominik
- Janz, Martin
- Horn, Denise
- Maroofian, Reza
- Boschann, Felix
2023
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Genetics in medicine, 2019-08, Vol.21 (8), p.1797-1807
- Fountain, Michael D
- Oleson, David S
- Rech, Megan E
- Segebrecht, Lara
- Hunter, Jill V
- McCarthy, John M
- Lupo, Philip J
- Holtgrewe, Manuel
- Moran, Rocio
- Rosenfeld, Jill A
- Isidor, Bertrand
- Le Caignec, Cédric
- Saenz, Margarita S
- Pedersen, Robert C
- Morgan, Thomas M
- Pfotenhauer, Jean P
- Xia, Fan
- Bi, Weimin
- Kang, Sung-Hae L
- Patel, Ankita
- Krantz, Ian D
- Raible, Sarah E
- Smith, Wendy
- Cristian, Ingrid
- Torti, Erin
- Juusola, Jane
- Millan, Francisca
- Wentzensen, Ingrid M
- Person, Richard E
- Küry, Sébastien
- Bézieau, Stéphane
- Uguen, Kévin
- Férec, Claude
- Munnich, Arnold
- van Haelst, Mieke
- Lichtenbelt, Klaske D
- van Gassen, Koen
- Hagelstrom, Tanner
- Chawla, Aditi
- Perry, Denise L
- Taft, Ryan J
- Jones, Marilyn
- Masser-Frye, Diane
- Dyment, David
- Venkateswaran, Sunita
- Li, Chumei
- Escobar, Luis F
- Horn, Denise
- Spillmann, Rebecca C
- Peña, Loren
- Wierzba, Jolanta
- Strom, Tim M
- Parenti, Ilaria
- Kaiser, Frank J
- Ehmke, Nadja
- Schaaf, Christian P
2019
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Genetics in medicine, 2022-09, Vol.24 (9), p.1927-1940
- Kornak, Uwe
- Saha, Namrata
- Keren, Boris
- Neumann, Alexander
- Taylor Tavares, Ana Lisa
- Piard, Juliette
- Kopp, Johannes
- Rodrigues Alves, João Guilherme
- Rodríguez de los Santos, Miguel
- El Choubassi, Naji
- Ehmke, Nadja
- Jäger, Marten
- Spielmann, Malte
- Pantel, Jean Tori
- Lejeune, Elodie
- Fauler, Beatrix
- Mielke, Thorsten
- Hecht, Jochen
- Meierhofer, David
- Strom, Tim M.
- Laugel, Vincent
- Brice, Alexis
- Mundlos, Stefan
- Bertoli-Avella, Aida
- Bauer, Peter
- Heyd, Florian
- Boute, Odile
- Dupont, Juliette
- Depienne, Christel
- Van Maldergem, Lionel
- Fischer-Zirnsak, Björn
2022
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Nature genetics, 2022-03, Vol.54 (3), p.349-2
- Hsieh, Tzung-Chien
- Bar-Haim, Aviram
- Moosa, Shahida
- Ehmke, Nadja
- Gripp, Karen W
- Pantel, Jean Tori
- Danyel, Magdalena
- Mensah, Martin Atta
- Horn, Denise
- Rosnev, Stanislav
- Fleischer, Nicole
- Bonini, Guilherme
- Hustinx, Alexander
- Schmid, Alexander
- Knaus, Alexej
- Javanmardi, Behnam
- Klinkhammer, Hannah
- Lesmann, Hellen
- Sivalingam, Sugirthan
- Kamphans, Tom
- Meiswinkel, Wolfgang
- Ebstein, Frédéric
- Krüger, Elke
- Küry, Sébastien
- Bézieau, Stéphane
- Schmidt, Axel
- Peters, Sophia
- Engels, Hartmut
- Mangold, Elisabeth
- Kreiß, Martina
- Cremer, Kirsten
- Perne, Claudia
- Betz, Regina C
- Bender, Tim
- Grundmann-Hauser, Kathrin
- Haack, Tobias B
- Wagner, Matias
- Brunet, Theresa
- Bentzen, Heidi Beate
- Averdunk, Luisa
- Coetzer, Kimberly Christine
- Lyon, Gholson J
- Spielmann, Malte
- Schaaf, Christian P
- Mundlos, Stefan
- Nöthen, Markus M
- Krawitz, Peter M
2022
Link zum Volltext
Nature genetics, 2022-02, Vol.54 (3), p.349-357
- Hsieh, Tzung-Chien
- Bar-Haim, Aviram
- Moosa, Shahida
- Ehmke, Nadja
- Gripp, Karen W.
- Pantel, Jean Tori
- Danyel, Magdalena
- Mensah, Martin Atta
- Horn, Denise
- Rosnev, Stanislav
- Fleischer, Nicole
- Bonini, Guilherme
- Hustinx, Alexander
- Schmid, Alexander
- Knaus, Alexej
- Javanmardi, Behnam
- Klinkhammer, Hannah
- Lesmann, Hellen
- Sivalingam, Sugirthan
- Kamphans, Tom
- Meiswinkel, Wolfgang
- Ebstein, Frédéric
- Krüger, Elke
- Küry, Sébastien
- Bézieau, Stéphane
- Schmidt, Axel
- Peters, Sophia
- Engels, Hartmut
- Mangold, Elisabeth
- Kreiß, Martina
- Cremer, Kirsten
- Perne, Claudia
- Betz, Regina C.
- Bender, Tim
- Grundmann-Hauser, Kathrin
- Haack, Tobias B.
- Wagner, Matias
- Brunet, Theresa
- Bentzen, Heidi Beate
- Averdunk, Luisa
- Coetzer, Kimberly Christine
- Lyon, Gholson J.
- Spielmann, Malte
- Schaaf, Christian
- Mundlos, Stefan
- Nöthen, Markus M.
- Krawitz, Peter
2022
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Bone (New York, N.Y.), 2020-04, Vol.133, p.115219-115219, Article 115219
- Ehmke, Nadja
- Cusmano-Ozog, Kristina
- Koenig, Rainer
- Holtgrewe, Manuel
- Nur, Banu
- Mihci, Ercan
- Babcock, Holly
- Gonzaga-Jauregui, Claudia
- Overton, John D.
- Xiao, Jing
- Martinez, Ariel F.
- Muenke, Maximilian
- Balzer, Alexander
- Jochim, Judith
- El Choubassi, Naji
- Fischer-Zirnsak, Björn
- Huber, Céline
- Kornak, Uwe
- Elsea, Sarah H.
- Cormier-Daire, Valérie
- Ferreira, Carlos R.
2020
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