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Genetics in medicine, 2021-08, Vol.23 (8), p.1492-1497
- Zacher, Pia
- Mayer, Thomas
- Brandhoff, Frank
- Bartolomaeus, Tobias
- Le Duc, Diana
- Finzel, Martin
- Heinze, Anja
- Horn, Susanne
- Klöckner, Chiara
- Körber, Gudrun
- Hentschel, Julia
- Kalita, Malgorzata
- Krey, Ilona
- Nastainczyk-Wulf, Marina
- Platzer, Konrad
- Rebstock, Johannes
- Popp, Bernt
- Stiller, Mathias
- Teichmann, Anne-Christin
- Jamra, Rami Abou
- Lemke, Johannes R.
2021
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Scientific reports, 2022-08, Vol.12 (1), p.13507-13507, Article 13507
2022
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Genes, 2022-12, Vol.14 (1), p.30
2022
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American journal of medical genetics. Part A, 2023-02, Vol.191 (2), p.469-478
- Roessler, Franziska
- Beck, Anita E.
- Susie, Ball
- Tobias, Bartolomaeus
- Begtrup, Amber
- Biskup, Saskia
- Caluseriu, Oana
- Delanty, Norman
- Fröhlich, Christine
- Greally, Marie T.
- Karnstedt, Maike
- Klöckner, Chiara
- Kurtzberg, Joanne
- Schubert, Susanna
- Schulze, Martin
- Weidenbach, Michael
- Westphal, Dominik S.
- White, Maire
- Wolf, Cordula M.
- Zyskind, Jacob
- Popp, Bernt
- Strehlow, Vincent
2023
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European journal of human genetics : EJHG, 2022-01, Vol.30 (1), p.101-110
2022
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Genome medicine, 2023-11, Vol.15 (1), p.102-24, Article 102
- Lin, Sheng-Jia
- Vona, Barbara
- Lau, Tracy
- Huang, Kevin
- Zaki, Maha S
- Aldeen, Huda Shujaa
- Karimiani, Ehsan Ghayoor
- Rocca, Clarissa
- Noureldeen, Mahmoud M
- Saad, Ahmed K
- Petree, Cassidy
- Bartolomaeus, Tobias
- Abou Jamra, Rami
- Zifarelli, Giovanni
- Gotkhindikar, Aditi
- Wentzensen, Ingrid M
- Liao, Mingjuan
- Cork, Emalyn Elise
- Varshney, Pratishtha
- Hashemi, Narges
- Mohammadi, Mohammad Hasan
- Rad, Aboulfazl
- Neira, Juanita
- Toosi, Mehran Beiraghi
- Knopp, Cordula
- Kurth, Ingo
- Challman, Thomas D
- Smith, Rebecca
- Abdalla, Asmahan
- Haaf, Thomas
- Suri, Mohnish
- Joshi, Manali
- Chung, Wendy K
- Moreno-De-Luca, Andres
- Houlden, Henry
- Maroofian, Reza
- Varshney, Gaurav K
2023
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European journal of human genetics : EJHG, 2023-10, Vol.31 (10), p.1154-1164
2023
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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
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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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Clinical genetics, 2023-02, Vol.103 (2), p.226-230
2023
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American journal of human genetics, 2022-05, Vol.109 (5), p.944-952
- Rahimi, Meer Jacob
- Urban, Nicole
- Wegler, Meret
- Sticht, Heinrich
- Schaefer, Michael
- Popp, Bernt
- Gaunitz, Frank
- Morleo, Manuela
- Nigro, Vincenzo
- Maitz, Silvia
- Mancini, Grazia M S
- Ruivenkamp, Claudia
- Suk, Eun-Kyung
- Bartolomaeus, Tobias
- Merkenschlager, Andreas
- Koboldt, Daniel
- Bartholomew, Dennis
- Stegmann, Alexander P A
- Sinnema, Margje
- Duynisveld, Irma
- Salvarinova, Ramona
- Race, Simone
- de Vries, Bert B A
- Trimouille, Aurélien
- Naudion, Sophie
- Marom, Daphna
- Hamiel, Uri
- Henig, Noa
- Demurger, Florence
- Rahner, Nils
- Bartels, Enrika
- Hamm, J Austin
- Putnam, Abbey M
- Person, Richard
- Abou Jamra, Rami
- Oppermann, Henry
2022
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Neurology, 2021-03, Vol.96 (11), p.e1539
- Zagaglia, Sara
- Steel, Dora
- Krithika, S
- Hernandez-Hernandez, Laura
- Custodio, Helena Martins
- Gorman, Kathleen M
- Vezyroglou, Aikaterini
- Møller, Rikke S
- King, Mary D
- Hammer, Trine Bjørg
- Spaull, Robert
- Fazeli, Walid
- Bartolomaeus, Tobias
- Doummar, Diane
- Keren, Boris
- Mignot, Cyril
- Bednarek, Nathalie
- Cross, J Helen
- Mallick, Andrew A
- Sanchis-Juan, Alba
- Basu, Anna
- Raymond, F Lucy
- Lynch, Bryan J
- Majumdar, Anirban
- Stamberger, Hannah
- Weckhuysen, Sarah
- Sisodiya, Sanjay M
- Kurian, Manju A
2021
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American journal of human genetics, 2020-10, Vol.107 (4), p.727-742
- Connaughton, Dervla M.
- Dai, Rufeng
- Owen, Danielle J.
- Marquez, Jonathan
- Mann, Nina
- Graham-Paquin, Adda L.
- Nakayama, Makiko
- Coyaud, Etienne
- Laurent, Estelle M.N.
- St-Germain, Jonathan R.
- Blok, Lot Snijders
- Vino, Arianna
- Klämbt, Verena
- Deutsch, Konstantin
- Wu, Chen-Han Wilfred
- Kolvenbach, Caroline M.
- Kause, Franziska
- Ottlewski, Isabel
- Schneider, Ronen
- Kitzler, Thomas M.
- Majmundar, Amar J.
- Buerger, Florian
- Onuchic-Whitford, Ana C.
- Youying, Mao
- Kolb, Amy
- Salmanullah, Daanya
- Chen, Evan
- van der Ven, Amelie T.
- Rao, Jia
- Ityel, Hadas
- Seltzsam, Steve
- Rieke, Johanna M.
- Chen, Jing
- Vivante, Asaf
- Hwang, Daw-Yang
- Kohl, Stefan
- Dworschak, Gabriel C.
- Hermle, Tobias
- Alders, Mariëlle
- Bartolomaeus, Tobias
- Bauer, Stuart B.
- Baum, Michelle A.
- Brilstra, Eva H.
- Challman, Thomas D.
- Zyskind, Jacob
- Costin, Carrie E.
- Dipple, Katrina M.
- Duijkers, Floor A.
- Ferguson, Marcia
- Fitzpatrick, David R.
- Fick, Roger
- Glass, Ian A.
- Hulick, Peter J.
- Kline, Antonie D.
- Krey, Ilona
- Kumar, Selvin
- Lu, Weining
- Marco, Elysa J.
- Wentzensen, Ingrid M.
- Mefford, Heather C.
- Platzer, Konrad
- Povolotskaya, Inna S.
- Savatt, Juliann M.
- Shcherbakova, Natalia V.
- Senguttuvan, Prabha
- Squire, Audrey E.
- Stein, Deborah R.
- Thiffault, Isabelle
- Voinova, Victoria Y.
- Somers, Michael J.G.
- Ferguson, Michael A.
- Traum, Avram Z.
- Daouk, Ghaleb H.
- Daga, Ankana
- Rodig, Nancy M.
- Terhal, Paulien A.
- van Binsbergen, Ellen
- Eid, Loai A.
- Tasic, Velibor
- Rasouly, Hila Milo
- Lim, Tze Y.
- Ahram, Dina F.
- Gharavi, Ali G.
- Reutter, Heiko M.
- Rehm, Heidi L.
- MacArthur, Daniel G.
- Lek, Monkol
- Laricchia, Kristen M.
- Lifton, Richard P.
- Xu, Hong
- Mane, Shrikant M.
- Sanna-Cherchi, Simone
- Sharrocks, Andrew D.
- Raught, Brian
- Fisher, Simon E.
- Bouchard, Maxime
- Khokha, Mustafa K.
- Shril, Shirlee
- Hildebrandt, Friedhelm
2020
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Neurology, 2024-01, Vol.102 (2), p.e207945
- Gokce-Samar, Zeynep
- Vetro, Annalisa
- De Bellescize, Julitta
- Pisano, Tiziana
- Monteiro, Laloe
- Penaud, Noémie
- Korff, Christian M
- Fluss, Joel
- Marini, Carla
- Cesaroni, Elisabetta
- Alvarez, Blanca Mercedes
- Sanlaville, Damien
- Chatron, Nicolas
- Arzimanoglou, Alexis A
- Labalme, Audrey
- Cuddapah, Vishnu A
- Ruggiero, Sarah M
- Lecoquierre, Francois
- Nicolas, Gael
- Marie, Guerrot Anne
- Lebas, Axel
- Testard, Herve O
- Helbig, Katherine L
- Ruiz, Anna
- Ngoh, Adeline
- Kurian, Manju A
- Reid, Kimberley
- Spaull, Robert
- Joset, Pascal
- Ramantani, Georgia
- Steindl, Katharina
- Krenn, Martin
- Gerstl, Lucia
- Vieker, Silvia
- Craiu, Dana
- Pendziwiat, Manuela
- Haldeman-Englert, Chad
- Kanivets, Ilya
- Romanova, Irina
- Rajan, Deepa S
- Rosenfeld, Jill A
- Au, Margaret
- Grand, Katheryn
- Graham, Jr, John
- Isapof, Arnaud
- Villeneuve, Nathalie
- Smol, Thomas
- Caumes, Roseline
- Zacher, Pia
- Neuser, Sonja
- Tinschert, Sigrid
- Platzer, Konrad
- Bartolomaeus, Tobias
- Mohnke, Ines
- Radtke, Maximilian
- Jamra, Rami Abou
- Helbig, Ingo
- Jansen, Floortje E
- Koop, Klaas
- Rudolf, Gabrielle
- Küry, Sebastien
- Courchet, Julien
- Guerrini, Renzo
- Lesca, Gaetan
2024
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The constitutional gain‐of‐function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome
2023
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Pediatric neurology, 2024-11, Vol.160, p.45-53
- Mignot, Cyril
- Littlejohn, Rebecca O.
- Bademci, Guney
- Balasubramanyam, Ashok
- Beck, Anita
- Berg-Rood, Beverly
- Berry, Gerard T.
- Bican, Anna
- Bohnsack, John
- Bonner, Devon
- Botto, Lorenzo
- Butte, Manish J.
- Peter Chang, Ta Chen
- D'Souza, Precilla
- Dasari, Surendra
- Dayal, Jyoti G.
- Dell'Angelica, Esteban C.
- Dorrani, Naghmeh
- Doss, Argenia L.
- Douine, Emilie D.
- Earl, Dawn
- Falk, Marni
- Fieg, Elizabeth L.
- Fisher, Paul G.
- Gahl, William A.
- Goddard, Page C.
- Golden-Grant, Katie
- Grajewski, Alana
- Hadley, Don
- Hahn, Sihoun
- Halley, Meghan C.
- High, Frances
- Hing, Anne
- Hisama, Fuki M.
- Holm, Ingrid A.
- Hutchison, Sarah
- Izumi, Kosuke
- Jarvik, Gail P.
- Jayadev, Suman
- Jean-Marie, Orpa
- Kennedy, Jennifer
- Ketkar, Shamika
- Kohane, Isaac S.
- Kohler, Jennefer N.
- Lam, Byron
- Lam, Christina
- Lanpher, Brendan C.
- Lanza, Ian R.
- Levitt, Roy
- Liu, Pengfei
- Longo, Nicola
- Loscalzo, Joseph
- Macnamara, Ellen F.
- Maduro, Valerie V.
- Manolio, Teri A.
- Marth, Gabor
- Martin, Beth A.
- Marwaha, Shruti
- McConkie-Rosell, Allyn
- McCray, Alexa T.
- Morava, Eva
- Nakano-Okuno, Mariko
- Newman, John H.
- Nickerson, Deborah
- Oglesbee, Devin
- Pallais, J. Carl
- Phillips, John A.
- Rosenwasser, Natalie
- Schedl, Timothy
- Shashi, Vandana
- Sisco, Kathy
- Solem, Emily
- Solnica-Krezel, Lilianna
- Solomon, Ben
- Sullivan, Jennifer A.
- Sweetser, David A.
- Sybert, Virginia
- Tekin, Mustafa
- Telischi, Fred
- Tran, Alyssa A.
- Ungar, Rachel A.
- Vanderver, Adeline
- Velinder, Matt
- Viskochil, Dave
- Wallace, Stephanie
- Walley, Nicole M.
- Wambach, Jennifer
- Wan, Jijun
- Ward, Patricia A.
- Hubshman, Monika Weisz
- Wenger, Tara
- Westerfield, Monte
- Wolfe, Lynne A.
- Worley, Kim
- Xiao, Changrui
- Sarret, Catherine
- Platzer, Konrad
- Fischer, Susann
- Granadillo, Jorge L.
- Schreiner, Elisabeth
2024
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Genetics in medicine, 2023-01, Vol.25 (1), p.76-89
- Morsy, Heba
- Benkirane, Mehdi
- Cali, Elisa
- Zhelcheska, Kristina
- Cipriani, Valentina
- Galanaki, Evangelia
- Maroofian, Reza
- Efthymiou, Stephanie
- Murphy, David
- Banka, Siddharth
- Clayton-Smith, Jill
- Redman, Melody
- Bassetti, Jennifer A.
- Nizon, Mathilde
- Jamra, Rami Abu
- Heruth, Marion
- Krey, Ilona
- Gburek-Augustat, Janina
- Wieczorek, Dagmar
- Mcentagart, Meriel
- Goldenberg, Alice
- Guyant-Marechal, Lucie
- Garcia-Moreno, Hector
- Giunti, Paola
- Chabrol, Brigitte
- Bacrot, Severine
- Buissonnière, Roger
- Gowda, Vykuntaraju K.
- Srinivasan, Varunvenkat M.
- Melegh, Béla
- Szabó, András
- Sümegi, Katalin
- Cossée, Mireille
- Ziff, Monica
- Butterfield, Russell
- Hunt, David
- Hanna, Michael
- Koenig, Michel
- Vandrovcova, Jana
- Houlden, Henry
- Arumugam, P.
- Baple, E.L.
- Bleda, M.
- Boardman-Pretty, F.
- Boissiere, J.M.
- Boustred, C.R.
- Brittain, H.
- Caulfield, M.J.
- Chan, G.C.
- Daugherty, L.C.
- Devereau, A.
- Foulger, R.E.
- Fowler, T.
- Furió-Tarí, P.
- Halai, D.
- Hamblin, A.
- Henderson, S.
- Holman, J.E.
- Hubbard, T.J.P.
- Ibáñez, K.
- Jackson, R.
- Jones, L.J.
- Kasperaviciute, D.
- Lahnstein, L.
- Leigh, S.E.A.
- Leong, I.U.S.
- Lopez, F.J.
- Maleady-Crowe, F.
- Mason, J.
- McDonagh, E.M.
- Moutsianas, L.
- Mueller, M.
- Murugaesu, N.
- Odhams, C.A.
- Patch, C.
- Perez-Gil, D.
- Pullinger, J.
- Rahim, T.
- Riesgo-Ferreiro, P.
- Rogers, T.
- Ryten, M.
- Savage, K.
- Scott, R.H.
- Siddiq, A.
- Sieghart, A.
- Smedley, D.
- Smith, K.R.
- Sosinsky, A.
- Stevens, H.E.
- Stuckey, A.
- Sultana, R.
- Thompson, S.R.
- Tucci, A.
- Walsh, E.
- Watters, S.A.
- Welland, M.J.
- Williams, E.
- Witkowska, K.
- Wood, S.M.
- Zarowiecki, M.
2023
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Zoologica scripta, 2016-11, Vol.45 (6), p.579-582
2016
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