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DNA methylation signature classification of rare disorders using publicly available methylation data
2023
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International journal of molecular sciences, 2021-01, Vol.22 (3), p.1345
2021
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European journal of human genetics : EJHG, 2019-02, Vol.27 (2), p.278-290
- Verheije, Rosalind
- Kupchik, Gabriel S
- Isidor, Bertrand
- Kroes, Hester Y
- Lynch, Sally Ann
- Hawkes, Lara
- Hempel, Maja
- Gelb, Bruce D
- Ghoumid, Jamal
- D'Amours, Guylaine
- Chandler, Kate
- Dubourg, Christèle
- Loddo, Sara
- Tümer, Zeynep
- Shaw-Smith, Charles
- Nizon, Mathilde
- Shevell, Michael
- Van Hoof, Evelien
- Anyane-Yeboa, Kwame
- Cerbone, Gaetana
- Clayton-Smith, Jill
- Cogné, Benjamin
- Corre, Pierre
- Corveleyn, Anniek
- De Borre, Marie
- Hjortshøj, Tina Duelund
- Fradin, Mélanie
- Gewillig, Marc
- Goldmuntz, Elizabeth
- Hens, Greet
- Lemyre, Emmanuelle
- Journel, Hubert
- Kini, Usha
- Kortüm, Fanny
- Le Caignec, Cedric
- Novelli, Antonio
- Odent, Sylvie
- Petit, Florence
- Revah-Politi, Anya
- Stong, Nicholas
- Strom, Tim M
- van Binsbergen, Ellen
- Devriendt, Koenraad
- Breckpot, Jeroen
2019
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Frontiers in genetics, 2022-03, Vol.13, p.842092-842092
2022
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American journal of medical genetics. Part B, Neuropsychiatric genetics, 2018-06, Vol.177 (4), p.397-405
- Wolfe, Kate
- McQuillin, Andrew
- Alesi, Viola
- Boudry Labis, Elise
- Cutajar, Peter
- Dallapiccola, Bruno
- Dentici, Maria Lisa
- Dieux‐Coeslier, Anne
- Duban‐Bedu, Benedicte
- Duelund Hjortshøj, Tina
- Goel, Himanshu
- Loddo, Sara
- Morrogh, Deborah
- Mosca‐Boidron, Anne‐Laure
- Novelli, Antonio
- Olivier‐Faivre, Laurence
- Parker, Jennifer
- Parker, Michael J.
- Patch, Christine
- Pelling, Anna L.
- Smol, Thomas
- Tümer, Zeynep
- Vanakker, Olivier
- van Haeringen, Arie
- Vanlerberghe, Clémence
- Strydom, Andre
- Skuse, David
- Bass, Nick
2018
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European journal of medical genetics, 2019-02, Vol.62 (2), p.129-136
- Tørring, Pernille Mathiesen
- Larsen, Martin Jakob
- Brasch-Andersen, Charlotte
- Krogh, Lotte Nylandsted
- Kibæk, Maria
- Laulund, Lone
- Illum, Niels
- Dunkhase-Heinl, Ulrike
- Wiesener, Antje
- Popp, Bernt
- Marangi, Giuseppe
- Hjortshøj, Tina Duelund
- Ek, Jakob
- Vogel, Ida
- Becher, Naja
- Roos, Laura
- Zollino, Marcella
- Fagerberg, Christina Ringmann
2019
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Stem cell research, 2019-12, Vol.41, p.101594-101594, Article 101594
2019
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Stem cell research, 2018-12, Vol.33, p.46-50
2018
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Stem cell research, 2018-08, Vol.31, p.235-239
2018
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American journal of obstetrics and gynecology, 2023-05, Vol.228 (5), p.590.e1-590.e12
2023
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American journal of obstetrics and gynecology, 2023-11, Vol.229 (5), p.555.e1-555.e14
2023
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Clinical genetics, 2020-10, Vol.98 (4), p.384-389
2020
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Genetics in medicine, 2018-09, Vol.20 (9), p.965-975
- Ivanovski, Ivan
- Djuric, Olivera
- Caraffi, Stefano Giuseppe
- Santodirocco, Daniela
- Pollazzon, Marzia
- Rosato, Simonetta
- Cordelli, Duccio Maria
- Abdalla, Ebtesam
- Accorsi, Patrizia
- Adam, Margaret P
- Ajmone, Paola Francesca
- Badura-Stronka, Magdalena
- Baldo, Chiara
- Baldi, Maddalena
- Bayat, Allan
- Bigoni, Stefania
- Bonvicini, Federico
- Breckpot, Jeroen
- Callewaert, Bert
- Cocchi, Guido
- Cuturilo, Goran
- De Brasi, Daniele
- Devriendt, Koenraad
- Dinulos, Mary Beth
- Hjortshøj, Tina Duelund
- Epifanio, Roberta
- Faravelli, Francesca
- Fiumara, Agata
- Formisano, Debora
- Giordano, Lucio
- Grasso, Marina
- Grønborg, Sabine
- Iodice, Alessandro
- Iughetti, Lorenzo
- Kuburovic, Vladimir
- Kutkowska-Kazmierczak, Anna
- Lacombe, Didier
- Lo Rizzo, Caterina
- Luchetti, Anna
- Malbora, Baris
- Mammi, Isabella
- Mari, Francesca
- Montorsi, Giulia
- Moutton, Sebastien
- Møller, Rikke S
- Muschke, Petra
- Nielsen, Jens Erik Klint
- Obersztyn, Ewa
- Pantaleoni, Chiara
- Pellicciari, Alessandro
- Pisanti, Maria Antonietta
- Prpic, Igor
- Poch-Olive, Maria Luisa
- Raviglione, Federico
- Renieri, Alessandra
- Ricci, Emilia
- Rivieri, Francesca
- Santen, Gijs W
- Savasta, Salvatore
- Scarano, Gioacchino
- Schanze, Ina
- Selicorni, Angelo
- Silengo, Margherita
- Smigiel, Robert
- Spaccini, Luigina
- Sorge, Giovanni
- Szczaluba, Krzysztof
- Tarani, Luigi
- Tone, Luis Gonzaga
- Toutain, Annick
- Trimouille, Aurelien
- Valera, Elvis Terci
- Vergano, Samantha Schrier
- Zanotta, Nicoletta
- Zenker, Martin
- Conidi, Andrea
- Zollino, Marcella
- Rauch, Anita
- Zweier, Christiane
- Garavelli, Livia
2018
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American journal of medical genetics. Part A, 2021-12, Vol.185 (12), p.3844-3850
2021
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Investigative ophthalmology & visual science, 2020-02, Vol.61 (2), p.29-29
2020
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PLoS genetics, 2018-11, Vol.14 (11), p.e1007780-e1007780
- Nazaryan-Petersen, Lusine
- Eisfeldt, Jesper
- Pettersson, Maria
- Lundin, Johanna
- Nilsson, Daniel
- Wincent, Josephine
- Lieden, Agne
- Lovmar, Lovisa
- Ottosson, Jesper
- Gacic, Jelena
- Mäkitie, Outi
- Nordgren, Ann
- Vezzi, Francesco
- Wirta, Valtteri
- Käller, Max
- Hjortshøj, Tina Duelund
- Jespersgaard, Cathrine
- Houssari, Rayan
- Pignata, Laura
- Bak, Mads
- Tommerup, Niels
- Lundberg, Elisabeth Syk
- Tümer, Zeynep
- Lindstrand, Anna
- Spinner, Nancy B.
2018
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American journal of medical genetics. Part A, 2008-02, Vol.146A (4), p.517-520
2008
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Human mutation, 2010-04, Vol.31 (4), p.429-436
2010
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Cold Spring Harbor molecular case studies, 2021-06, Vol.7 (3), p.a005991
2021
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Journal of genetic counseling, 2017-10, Vol.26 (5), p.1080-1089
2017
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American journal of human genetics, 2020-08, Vol.107 (2), p.311-324
- Manole, Andreea
- Efthymiou, Stephanie
- O’Connor, Emer
- Mendes, Marisa I.
- Jennings, Matthew
- Maroofian, Reza
- Davagnanam, Indran
- Mankad, Kshitij
- Lopez, Maria Rodriguez
- Salpietro, Vincenzo
- Harripaul, Ricardo
- Badalato, Lauren
- Walia, Jagdeep
- Francklyn, Christopher S.
- Athanasiou-Fragkouli, Alkyoni
- Sullivan, Roisin
- Desai, Sonal
- Baranano, Kristin
- Zafar, Faisal
- Rana, Nuzhat
- Ilyas, Muhammed
- Horga, Alejandro
- Kara, Majdi
- Mattioli, Francesca
- Goldenberg, Alice
- Griffin, Helen
- Piton, Amelie
- Henderson, Lindsay B.
- Kara, Benyekhlef
- Aslanger, Ayca Dilruba
- Raaphorst, Joost
- Pfundt, Rolph
- Portier, Ruben
- Shinawi, Marwan
- Kirby, Amelia
- Christensen, Katherine M.
- Wang, Lu
- Rosti, Rasim O.
- Paracha, Sohail A.
- Sarwar, Muhammad T.
- Jenkins, Dagan
- Ahmed, Jawad
- Santoni, Federico A.
- Ranza, Emmanuelle
- Iwaszkiewicz, Justyna
- Cytrynbaum, Cheryl
- Weksberg, Rosanna
- Wentzensen, Ingrid M.
- Guillen Sacoto, Maria J.
- Si, Yue
- Telegrafi, Aida
- Andrews, Marisa V.
- Baldridge, Dustin
- Gabriel, Heinz
- Mohr, Julia
- Oehl-Jaschkowitz, Barbara
- Debard, Sylvain
- Senger, Bruno
- Fischer, Frédéric
- van Ravenwaaij, Conny
- Fock, Annemarie J.M.
- Stevens, Servi J.C.
- Bähler, Jürg
- Nasar, Amina
- Mantovani, John F.
- Manzur, Adnan
- Sarkozy, Anna
- Smith, Desirée E.C.
- Salomons, Gajja S.
- Ahmed, Zubair M.
- Riazuddin, Shaikh
- Riazuddin, Saima
- Usmani, Muhammad A.
- Seibt, Annette
- Ansar, Muhammad
- Antonarakis, Stylianos E.
- Vincent, John B.
- Ayub, Muhammad
- Grimmel, Mona
- Jelsig, Anne Marie
- Hjortshøj, Tina Duelund
- Karstensen, Helena Gásdal
- Hummel, Marybeth
- Haack, Tobias B.
- Jamshidi, Yalda
- Distelmaier, Felix
- Horvath, Rita
- Gleeson, Joseph G.
- Becker, Hubert
- Mandel, Jean-Louis
- Koolen, David A.
- Houlden, Henry
2020
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American journal of human genetics, 2024-03, Vol.111 (3), p.509-528
- Pérez Baca, María del Rocío
- Jacobs, Eva Z.
- Vantomme, Lies
- Leblanc, Pontus
- Bogaert, Elke
- Dheedene, Annelies
- De Cock, Laurenz
- Haghshenas, Sadegheh
- Foroutan, Aidin
- Levy, Michael A.
- Kerkhof, Jennifer
- McConkey, Haley
- Chen, Chun-An
- Batzir, Nurit Assia
- Wang, Xia
- Carels, Marieke
- Agrawal, Pankaj
- Armstrong Scott, Daryl
- Bellini, Melissa
- Beneteau, Claire
- Bjørgo, Kathrine
- Brooks, Alice
- Brown, Natasha
- Castle, Alison
- Castro, Diana
- Chorin, Odelia
- Cleghorn, Mark
- Clement, Emma
- Coman, David
- Costin, Carrie
- Devriendt, Koen
- Dong, Dexin
- Dries, Annika
- Duelund Hjortshøj, Tina
- Dyment, David
- Eng, Christine
- Genetti, Casie
- Grano, Siera
- Henneman, Peter
- Heron, Delphine
- Hoffmann, Katrin
- Du, Haowei
- Isidor, Bertrand
- Järvelä, Irma E.
- Jones, Julie
- Keren, Boris
- Kohlhase, Jürgen
- Lalani, Seema
- Le Caignec, Cedric
- Lewis, Andi
- Lovgren, Alysia
- Lupski, James R.
- Lyons, Mike
- Lysy, Philippe
- Manning, Melanie
- Marcelis, Carlo
- McLean, Scott Douglas
- Mercie, Sandra
- Mertens, Mareike
- Molin, Arnaud
- Nugent, Kimberly Margaret
- Öhman, Susanna
- O'Leary, Melanie
- Okashah Littlejohn, Rebecca
- Petit, Florence
- Pfundt, Rolph
- Pottocki, Lorraine
- Raas-Rotschild, Annick
- Ranguin, Kara
- Revencu, Nicole
- Rosenfeld, Jill
- Rhodes, Lindsay
- Sals, Karen
- Schrauwen, Isabelle
- Schuurs-Hoeijmakers, Janneke H.M.
- Seaby, Eleanor G.
- Sheffer, Ruth
- Snijders Blok, Lot
- Sørensen, Kristina P.
- Srivastava, Siddharth
- Stark, Zornitza
- Stoeva, Radka
- Stutterd, Chloe
- Tan, Natalie B.
- Mathiesen Torring, Pernille
- Vanakker, Olivier
- van der Laan, Liselot
- Ververi, Athina
- Vincent, Marie
- Wand, Dorothea
- Wessels, Marja
- White, Sue
- Wojcik, Monica H.
- Wu, Nan
- Zhao, Sen
- Dermaut, Bart
- Sadikovic, Bekim
- Yuan, Bo
- Vergult, Sarah
- Callewaert, Bert
2024
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Ugeskrift for læger, 2018-03, Vol.180 (11)
2018
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Ugeskrift for læger, 2019-09, Vol.181 (38)
2019
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Ugeskrift for læger, 2014-02, Vol.176 (8A), p.V07130452
2014
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