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American journal of human genetics, 2020-02, Vol.106 (2), p.234-245
- Beck, David B.
- Petracovici, Ana
- He, Chongsheng
- Moore, Hannah W.
- Louie, Raymond J.
- Ansar, Muhammad
- Douzgou, Sofia
- Sithambaram, Sivagamy
- Cottrell, Trudie
- Santos-Cortez, Regie Lyn P.
- Prijoles, Eloise J.
- Bend, Renee
- Keren, Boris
- Mignot, Cyril
- Nougues, Marie-Christine
- Õunap, Katrin
- Reimand, Tiia
- Pajusalu, Sander
- Zahid, Muhammad
- Saqib, Muhammad Arif Nadeem
- Buratti, Julien
- Seaby, Eleanor G.
- McWalter, Kirsty
- Telegrafi, Aida
- Baldridge, Dustin
- Shinawi, Marwan
- Leal, Suzanne M.
- Schaefer, G. Bradley
- Stevenson, Roger E.
- Banka, Siddharth
- Bonasio, Roberto
- Fahrner, Jill A.
2020
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Brain (London, England : 1878), 2019-09, Vol.142 (9), p.2631-2643
- Kruszka, Paul
- Berger, Seth I
- Casa, Valentina
- Dekker, Mike R
- Gaesser, Jenna
- Weiss, Karin
- Martinez, Ariel F
- Murdock, David R
- Louie, Raymond J
- Prijoles, Eloise J
- Lichty, Angie W
- Brouwer, Oebele F
- Zonneveld-Huijssoon, Evelien
- Stephan, Mark J
- Hogue, Jacob
- Hu, Ping
- Tanima-Nagai, Momoko
- Everson, Joshua L
- Prasad, Chitra
- Cereda, Anna
- Iascone, Maria
- Schreiber, Allison
- Zurcher, Vickie
- Corsten-Janssen, Nicole
- Escobar, Luis
- Clegg, Nancy J
- Delgado, Mauricio R
- Hajirnis, Omkar
- Balasubramanian, Meena
- Kayserili, Hülya
- Deardorff, Matthew
- Poot, Raymond A
- Wendt, Kerstin S
- Lipinski, Robert J
- Muenke, Maximilian
2019
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Clinical epigenetics, 2019-04, Vol.11 (1), p.64-64, Article 64
- Bend, Eric G
- Aref-Eshghi, Erfan
- Everman, David B
- Rogers, R Curtis
- Cathey, Sara S
- Prijoles, Eloise J
- Lyons, Michael J
- Davis, Heather
- Clarkson, Katie
- Gripp, Karen W
- Li, Dong
- Bhoj, Elizabeth
- Zackai, Elaine
- Mark, Paul
- Hakonarson, Hakon
- Demmer, Laurie A
- Levy, Michael A
- Kerkhof, Jennifer
- Stuart, Alan
- Rodenhiser, David
- Friez, Michael J
- Stevenson, Roger E
- Schwartz, Charles E
- Sadikovic, Bekim
2019
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Journal of genetic counseling, 2019-10, Vol.28 (5), p.993-1002
2019
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Human molecular genetics, 2022-09, Vol.31 (19), p.3325-3340
- Cordovado, Amélie
- Schaettin, Martina
- Jeanne, Médéric
- Panasenkava, Veranika
- Denommé-Pichon, Anne-Sophie
- Keren, Boris
- Mignot, Cyril
- Doco-Fenzy, Martine
- Rodan, Lance
- Ramsey, Keri
- Narayanan, Vinodh
- Jones, Julie R
- Prijoles, Eloise J
- Mitchell, Wendy G
- Ozmore, Jillian R
- Juliette, Kali
- Torti, Erin
- Normand, Elizabeth A
- Granger, Leslie
- Petersen, Andrea K
- Au, Margaret G
- Matheny, Juliann P
- Phornphutkul, Chanika
- Chambers, Mary-Kathryn
- Fernández-Ramos, Joaquín-Alejandro
- López-Laso, Eduardo
- Kruer, Michael C
- Bakhtiari, Somayeh
- Zollino, Marcella
- Morleo, Manuela
- Marangi, Giuseppe
- Mei, Davide
- Pisano, Tiziana
- Guerrini, Renzo
- Louie, Raymond J
- Childers, Anna
- Everman, David B
- Isidor, Betrand
- Audebert-Bellanger, Séverine
- Odent, Sylvie
- Bonneau, Dominique
- Gilbert-Dussardier, Brigitte
- Redon, Richard
- Bézieau, Stéphane
- Laumonnier, Frédéric
- Stoeckli, Esther T
- Toutain, Annick
- Vuillaume, Marie-Laure
2022
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American journal of medical genetics. Part A, 2020-12, Vol.182 (12), p.2939-2950
- Tekendo‐Ngongang, Cedrik
- Owosela, Babajide
- Fleischer, Nicole
- Addissie, Yonit A.
- Malonga, Bryan
- Badoe, Ebenezer
- Gupta, Neerja
- Moresco, Angélica
- Huckstadt, Victoria
- Ashaat, Engy A.
- Hussen, Dalia Farouk
- Luk, Ho‐Ming
- Lo, Ivan F. M.
- Hon‐Yin Chung, Brian
- Fung, Jasmine L. F.
- Moretti‐Ferreira, Danilo
- Batista, Letícia Cassimiro
- Lotz‐Esquivel, Stephanie
- Saborio‐Rocafort, Manuel
- Badilla‐Porras, Ramses
- Penon Portmann, Monica
- Jones, Kelly L.
- Abdul‐Rahman, Omar A.
- Uwineza, Annette
- Prijoles, Eloise J.
- Ifeorah, Ifeanyi Kanayo
- Llamos Paneque, Arianne
- Sirisena, Nirmala D.
- Dowsett, Leah
- Lee, Sansan
- Cappuccio, Gerarda
- Kitchin, Carolyn Sian
- Diaz‐Kuan, Alicia
- Thong, Meow‐Keong
- Obregon, María Gabriela
- Mutesa, Leon
- Dissanayake, Vajira H. W.
- El Ruby, Mona O.
- Brunetti‐Pierri, Nicola
- Ekure, Ekanem Nsikak
- Stevenson, Roger E.
- Muenke, Maximilian
- Kruszka, Paul
2020
Link zum Volltext
American journal of medical genetics. Part A, 2023-07, Vol.191 (7), p.1900-1910
- Wojcik, Monica H.
- Srivastava, Siddharth
- Agrawal, Pankaj B.
- Balci, Tugce B.
- Callewaert, Bert
- Calvo, Pier Luigi
- Carli, Diana
- Caudle, Michelle
- Colaiacovo, Samantha
- Cross, Laura
- Demetriou, Kalliope
- Drazba, Katy
- Dutra‐Clarke, Marina
- Edwards, Matthew
- Genetti, Casie A.
- Grange, Dorothy K.
- Hickey, Scott E.
- Isidor, Bertrand
- Küry, Sébastien
- Lachman, Herbert M.
- Lavillaureix, Alinoe
- Lyons, Michael J.
- Marcelis, Carlo
- Marco, Elysa J.
- Martinez‐Agosto, Julian A.
- Nowak, Catherine
- Pizzol, Antonio
- Planes, Marc
- Prijoles, Eloise J.
- Riberi, Evelise
- Rush, Eric T.
- Russell, Bianca E.
- Sachdev, Rani
- Schmalz, Betsy
- Shears, Deborah
- Stevenson, David A.
- Wilson, Kate
- Jansen, Sandra
- Vries, Bert B. A.
- Curry, Cynthia J.
2023
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American journal of medical genetics. Part A, 2010-02, Vol.152A (2), p.484-485
2010
Link zum Volltext
Annals of neurology, 2024-02, Vol.95 (2), p.365-376
2024
Link zum Volltext
American journal of human genetics, 2023-06, Vol.110 (6), p.963-978
- Rots, Dmitrijs
- Jakub, Taryn E.
- Keung, Crystal
- Jackson, Adam
- Banka, Siddharth
- Pfundt, Rolph
- de Vries, Bert B.A.
- van Jaarsveld, Richard H.
- Hopman, Saskia M.J.
- Valenzuela, Irene
- Hempel, Maja
- Bierhals, Tatjana
- Kortüm, Fanny
- Lecoquierre, Francois
- Goldenberg, Alice
- Hertz, Jens Michael
- Kibæk, Maria
- Prijoles, Eloise J.
- Stevenson, Roger E.
- Everman, David B.
- Patterson, Wesley G.
- Meng, Linyan
- Gijavanekar, Charul
- De Dios, Karl
- Lakhani, Shenela
- Levy, Tess
- Wieczorek, Dagmar
- Benke, Paul J.
- Lopez Garcia, María Soledad
- Perrier, Renee
- Sousa, Sergio B.
- Almeida, Pedro M.
- Isidor, Bertrand
- Deb, Wallid
- Schmanski, Andrew A.
- Abdul-Rahman, Omar
- Philippe, Christophe
- Bruel, Ange-Line
- Faivre, Laurence
- Thauvin, Christel
- Smits, Jeroen J.
- Garavelli, Livia
- Caraffi, Stefano G.
- Peluso, Francesca
- Royer, Erin
- Leeuwen, Lisette
- Stegmann, Alexander P.A.
- Stumpel, Constance T.R.M.
- Tiller, George E.
- Bosch, Daniëlle G.M.
- Potgieter, Stephanus T.
- Joss, Shelagh
- Splitt, Miranda
- Holden, Simon
- Prapa, Matina
- Foulds, Nicola
- Waltes, Regina
- Chiocchetti, Andreas G.
- Freitag, Christine M.
- De Rubeis, Silvia
- Buxbaum, Joseph
- Gelb, Bruce D.
- Branko, Aleksic
- Kushima, Itaru
- Howe, Jennifer
- Scherer, Stephen W.
- Arado, Alessia
- Baldo, Chiara
- Patat, Olivier
- Bénédicte, Demeer
- Lopergolo, Diego
- Santorelli, Filippo M.
- Dufke, Andreas
- Falb, Ruth J.
- Rieß, Angelika
- Krieg, Peter
- Spranger, Stephanie
- Iascone, Maria
- Josephi-Taylor, Sarah
- Roscioli, Tony
- Buckley, Michael F.
- Liebelt, Jan
- Dagli, Aditi I.
- Aten, Emmelien
- Hurst, Anna C.E.
- Suri, Mohnish
- Aliu, Ermal
- Naik, Sunil
- Coursimault, Juliette
- Nicolas, Gaël
- Küpper, Hanna
- Ibrahim, Veyan
- Top, Deniz
- Di Cara, Francesca
- Louie, Raymond J.
- Stolerman, Elliot
- Brunner, Han G.
- Vissers, Lisenka E.L.M.
- Kramer, Jamie M.
- Kleefstra, Tjitske
2023
Link zum Volltext
American journal of human genetics, 2023-02, Vol.110 (2), p.215-227
- Hiatt, Susan M.
- Trajkova, Slavica
- Sebastiano, Matteo Rossi
- Partridge, E. Christopher
- Abidi, Fatima E.
- Anderson, Ashlyn
- Ansar, Muhammad
- Antonarakis, Stylianos E.
- Azadi, Azadeh
- Bachmann-Gagescu, Ruxandra
- Bartuli, Andrea
- Benech, Caroline
- Berkowitz, Jennifer L.
- Betti, Michael J.
- Brusco, Alfredo
- Cannon, Ashley
- Caron, Giulia
- Chen, Yanmin
- Cochran, Meagan E.
- Coleman, Tanner F.
- Crenshaw, Molly M.
- Cuisset, Laurence
- Curry, Cynthia J.
- Darvish, Hossein
- Demirdas, Serwet
- Descartes, Maria
- Douglas, Jessica
- Dyment, David A.
- Elloumi, Houda Zghal
- Ermondi, Giuseppe
- Faoucher, Marie
- Farrow, Emily G.
- Felker, Stephanie A.
- Fisher, Heather
- Hurst, Anna C.E.
- Joset, Pascal
- Kelly, Melissa A.
- Kmoch, Stanislav
- Leadem, Benjamin R.
- Lyons, Michael J.
- Macchiaiolo, Marina
- Magner, Martin
- Mandrile, Giorgia
- Mattioli, Francesca
- McEown, Megan
- Meadows, Sarah K.
- Medne, Livija
- Meeks, Naomi J.L.
- Montgomery, Sarah
- Napier, Melanie P.
- Natowicz, Marvin
- Newberry, Kimberly M.
- Niceta, Marcello
- Noskova, Lenka
- Nowak, Catherine B.
- Noyes, Amanda G.
- Osmond, Matthew
- Prijoles, Eloise J.
- Pugh, Jada
- Pullano, Verdiana
- Quélin, Chloé
- Rahimi-Aliabadi, Simin
- Rauch, Anita
- Redon, Sylvia
- Reymond, Alexandre
- Schwager, Caitlin R.
- Sellars, Elizabeth A.
- Scheuerle, Angela E.
- Shukarova-Angelovska, Elena
- Skraban, Cara
- Stolerman, Elliot
- Sullivan, Bonnie R.
- Tartaglia, Marco
- Thiffault, Isabelle
- Uguen, Kevin
- Umaña, Luis A.
- van Bever, Yolande
- van der Crabben, Saskia N.
- van Slegtenhorst, Marjon A.
- Waisfisz, Quinten
- Washington, Camerun
- Rodan, Lance H.
- Myers, Richard M.
- Cooper, Gregory M.
2023
Link zum Volltext
American journal of medical genetics. Part A, 2018-05, Vol.176 (5), p.1128-1136
- Kruszka, Paul
- Porras, Antonio R.
- de Souza, Deise Helena
- Moresco, Angélica
- Huckstadt, Victoria
- Gill, Ashleigh D.
- Boyle, Alec P.
- Hu, Tommy
- Addissie, Yonit A.
- Mok, Gary T. K.
- Tekendo‐Ngongang, Cedrik
- Fieggen, Karen
- Prijoles, Eloise J.
- Tanpaiboon, Pranoot
- Honey, Engela
- Luk, Ho‐Ming
- Lo, Ivan F. M.
- Thong, Meow‐Keong
- Muthukumarasamy, Premala
- Jones, Kelly L.
- Belhassan, Khadija
- Ouldim, Karim
- El Bouchikhi, Ihssane
- Bouguenouch, Laila
- Shukla, Anju
- Girisha, Katta M.
- Sirisena, Nirmala D.
- Dissanayake, Vajira H. W.
- Paththinige, C. Sampath
- Mishra, Rupesh
- Kisling, Monisha S.
- Ferreira, Carlos R.
- de Herreros, María Beatriz
- Lee, Ni‐Chung
- Jamuar, Saumya S.
- Lai, Angeline
- Tan, Ee Shien
- Ying Lim, Jiin
- Wen‐Min, Cham Breana
- Gupta, Neerja
- Lotz‐Esquivel, Stephanie
- Badilla‐Porras, Ramsés
- Hussen, Dalia Farouk
- El Ruby, Mona O.
- Ashaat, Engy A.
- Patil, Siddaramappa J.
- Dowsett, Leah
- Eaton, Alison
- Innes, A. Micheil
- Shotelersuk, Vorasuk
- Badoe, Ëben
- Wonkam, Ambroise
- Obregon, María Gabriela
- Chung, Brian H. Y.
- Trubnykova, Milana
- La Serna, Jorge
- Gallardo Jugo, Bertha Elena
- Chávez Pastor, Miguel
- Abarca Barriga, Hugo Hernán
- Megarbane, Andre
- Kozel, Beth A.
- van Haelst, Mieke M.
- Stevenson, Roger E.
- Summar, Marshall
- Adeyemo, A. Adebowale
- Morris, Colleen A.
- Moretti‐Ferreira, Danilo
- Linguraru, Marius George
- Muenke, Maximilian
2018
Link zum Volltext
Genetics in medicine, 2023-11, Vol.25 (11), p.100950-100950, Article 100950
- Bosch, Elisabeth
- Popp, Bernt
- Güse, Esther
- Skinner, Cindy
- van der Sluijs, Pleuntje J.
- Maystadt, Isabelle
- Pinto, Anna Maria
- Renieri, Alessandra
- Bruno, Lucia Pia
- Granata, Stefania
- Marcelis, Carlo
- Baysal, Özlem
- Hartwich, Dewi
- Holthöfer, Laura
- Isidor, Bertrand
- Cogne, Benjamin
- Wieczorek, Dagmar
- Capra, Valeria
- Scala, Marcello
- De Marco, Patrizia
- Ognibene, Marzia
- Jamra, Rami Abou
- Platzer, Konrad
- Carter, Lauren B.
- Kuismin, Outi
- van Haeringen, Arie
- Maroofian, Reza
- Valenzuela, Irene
- Cuscó, Ivon
- Martinez-Agosto, Julian A.
- Rabani, Ahna M.
- Mefford, Heather C.
- Pereira, Elaine M.
- Close, Charlotte
- Anyane-Yeboa, Kwame
- Wagner, Mallory
- Hannibal, Mark C.
- Zacher, Pia
- Thiffault, Isabelle
- Beunders, Gea
- Umair, Muhammad
- Bhola, Priya T.
- McGinnis, Erin
- Millichap, John
- van de Kamp, Jiddeke M.
- Prijoles, Eloise J.
- Dobson, Amy
- Shillington, Amelle
- Graham, Brett H.
- Garcia, Evan-Jacob
- Galindo, Maureen Kelly
- Ropers, Fabienne G.
- Nibbeling, Esther A.R.
- Hubbard, Gail
- Karimov, Catherine
- Goj, Guido
- Bend, Renee
- Rath, Julie
- Morrow, Michelle M.
- Millan, Francisca
- Salpietro, Vincenzo
- Torella, Annalaura
- Nigro, Vincenzo
- Kurki, Mitja
- Stevenson, Roger E.
- Santen, Gijs W.E.
- Zweier, Markus
- Campeau, Philippe M.
- Severino, Mariasavina
- Reis, André
- Accogli, Andrea
- Vasileiou, Georgia
2023
Link zum Volltext
American journal of medical genetics. Part A, 2019-02, Vol.179 (2), p.150-158
- Dowsett, Leah
- Porras, Antonio R.
- Kruszka, Paul
- Davis, Brandon
- Hu, Tommy
- Honey, Engela
- Badoe, Eben
- Thong, Meow‐Keong
- Leon, Eyby
- Girisha, Katta M.
- Shukla, Anju
- Nayak, Shalini S.
- Shotelersuk, Vorasuk
- Megarbane, Andre
- Phadke, Shubha
- Sirisena, Nirmala D.
- Dissanayake, Vajira H. W.
- Ferreira, Carlos R.
- Kisling, Monisha S.
- Tanpaiboon, Pranoot
- Uwineza, Annette
- Mutesa, Leon
- Tekendo‐Ngongang, Cedrik
- Wonkam, Ambroise
- Fieggen, Karen
- Batista, Leticia Cassimiro
- Moretti‐Ferreira, Danilo
- Stevenson, Roger E.
- Prijoles, Eloise J.
- Everman, David
- Clarkson, Kate
- Worthington, Jessica
- Kimonis, Virginia
- Hisama, Fuki
- Crowe, Carol
- Wong, Paul
- Johnson, Kisha
- Clark, Robin D.
- Bird, Lynne
- Masser‐Frye, Diane
- McDonald, Marie
- Willems, Patrick
- Roeder, Elizabeth
- Saitta, Sulgana
- Anyane‐Yeoba, Kwame
- Demmer, Laurie
- Hamajima, Naoki
- Stark, Zornitza
- Gillies, Greta
- Hudgins, Louanne
- Dave, Usha
- Shalev, Stavit
- Siu, Victoria
- Ades, Ann
- Dubbs, Holly
- Raible, Sarah
- Kaur, Maninder
- Salzano, Emanuela
- Jackson, Laird
- Deardorff, Matthew
- Kline, Antonie
- Summar, Marshall
- Muenke, Maximilian
- Linguraru, Marius George
- Krantz, Ian D.
2019
Link zum Volltext
Translational psychiatry, 2022-10, Vol.12 (1), p.421-421, Article 421
- Dingemans, Alexander J. M.
- Truijen, Kim M. G.
- van de Ven, Sam
- Bernier, Raphael
- Bongers, Ernie M. H. F.
- Bouman, Arjan
- de Graaff – Herder, Laura
- Eichler, Evan E.
- Gerkes, Erica H.
- De Geus, Christa M.
- van Hagen, Johanna M.
- Jansen, Philip R.
- Kerkhof, Jennifer
- Kievit, Anneke J. A.
- Kleefstra, Tjitske
- Maas, Saskia M.
- de Man, Stella A.
- McConkey, Haley
- Patterson, Wesley G.
- Dobson, Amy T.
- Prijoles, Eloise J.
- Sadikovic, Bekim
- Relator, Raissa
- Stevenson, Roger E.
- Stumpel, Connie T. R. M.
- Heijligers, Malou
- Stuurman, Kyra E.
- Löhner, Katharina
- Zeidler, Shimriet
- Lee, Jennifer A.
- Lindy, Amanda
- Zou, Fanggeng
- Tedder, Matthew L.
- Vissers, Lisenka E. L. M.
- de Vries, Bert B. A.
2022
Link zum Volltext
American journal of medical genetics. Part A, 2018-05, Vol.176 (5)
- Kruszka, Paul
- Porras, Antonio R.
- de Souza, Deise Helena
- Moresco, Angélica
- Huckstadt, Victoria
- Gill, Ashleigh D.
- Boyle, Alec P.
- Hu, Tommy
- Addissie, Yonit A.
- Mok, Gary T. K.
- Tekendo‐Ngongang, Cedrik
- Fieggen, Karen
- Prijoles, Eloise J.
- Tanpaiboon, Pranoot
- Honey, Engela
- Luk, Ho‐Ming
- Lo, Ivan F. M.
- Thong, Meow‐Keong
- Muthukumarasamy, Premala
- Jones, Kelly L.
- Belhassan, Khadija
- Ouldim, Karim
- El Bouchikhi, Ihssane
- Bouguenouch, Laila
- Shukla, Anju
- Girisha, Katta M.
- Sirisena, Nirmala D.
- Dissanayake, Vajira H. W.
- Paththinige, C. Sampath
- Mishra, Rupesh
- Kisling, Monisha S.
- Ferreira, Carlos R.
- de Herreros, María Beatriz
- Lee, Ni‐Chung
- Jamuar, Saumya S.
- Lai, Angeline
- Tan, Ee Shien
- Ying Lim, Jiin
- Wen‐Min, Cham Breana
- Gupta, Neerja
- Lotz‐Esquivel, Stephanie
- Badilla‐Porras, Ramsés
- Hussen, Dalia Farouk
- El Ruby, Mona O.
- Ashaat, Engy A.
- Patil, Siddaramappa J.
- Dowsett, Leah
- Eaton, Alison
- Innes, A. Micheil
- Shotelersuk, Vorasuk
- Badoe, Ëben
- Wonkam, Ambroise
- Obregon, María Gabriela
- Chung, Brian H. Y.
- Trubnykova, Milana
- La Serna, Jorge
- Gallardo Jugo, Bertha Elena
- Chávez Pastor, Miguel
- Abarca Barriga, Hugo Hernán
- Megarbane, Andre
- Kozel, Beth A.
- van Haelst, Mieke M.
- Stevenson, Roger E.
- Summar, Marshall
- Adeyemo, A. Adebowale
- Morris, Colleen A.
- Moretti‐Ferreira, Danilo
- Linguraru, Marius George
- Muenke, Maximilian
2018
Link zum Volltext
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