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Genetics in Medicine Open, 2024, Vol.2, p.101123, Article 101123
2024
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American journal of human genetics, 2024-04, Vol.111 (4), p.761-777
- Bhat, Shreyas
- Rousseau, Justine
- Michaud, Coralie
- Lourenço, Charles Marques
- Stoler, Joan M.
- Louie, Raymond J.
- Clarkson, Lola K.
- Lichty, Angie
- Koboldt, Daniel C.
- Reshmi, Shalini C.
- Sisodiya, Sanjay M.
- Hoytema van Konijnenburg, Eva M.M.
- Koop, Klaas
- van Hasselt, Peter M.
- Démurger, Florence
- Dubourg, Christèle
- Sullivan, Bonnie R.
- Hughes, Susan S.
- Thiffault, Isabelle
- Tremblay, Elisabeth Simard
- Accogli, Andrea
- Srour, Myriam
- Blunck, Rikard
- Campeau, Philippe M.
2024
Link zum Volltext
Genetics in medicine, 2022-06, Vol.24 (6), p.1336-1348
- Cohen, Ana S.A.
- Farrow, Emily G.
- Abdelmoity, Ahmed T.
- Alaimo, Joseph T.
- Amudhavalli, Shivarajan M.
- Anderson, John T.
- Bansal, Lalit
- Bartik, Lauren
- Baybayan, Primo
- Belden, Bradley
- Berrios, Courtney D.
- Biswell, Rebecca L.
- Buczkowicz, Pawel
- Buske, Orion
- Chakraborty, Shreyasee
- Cheung, Warren A.
- Coffman, Keith A.
- Cooper, Ashley M.
- Cross, Laura A.
- Curran, Tom
- Dang, Thuy Tien T.
- Elfrink, Mary M.
- Engleman, Kendra L.
- Fecske, Erin D.
- Fieser, Cynthia
- Fitzgerald, Keely
- Fleming, Emily A.
- Gadea, Randi N.
- Gannon, Jennifer L.
- Gelineau-Morel, Rose N.
- Gibson, Margaret
- Goldstein, Jeffrey
- Grundberg, Elin
- Halpin, Kelsee
- Harvey, Brian S.
- Heese, Bryce A.
- Hein, Wendy
- Herd, Suzanne M.
- Hughes, Susan S.
- Ilyas, Mohammed
- Jacobson, Jill
- Jenkins, Janda L.
- Jiang, Shao
- Johnston, Jeffrey J.
- Keeler, Kathryn
- Korlach, Jonas
- Kussmann, Jennifer
- Lambert, Christine
- Lawson, Caitlin
- Le Pichon, Jean-Baptiste
- Leeder, James Steven
- Little, Vicki C.
- Louiselle, Daniel A.
- Lypka, Michael
- McDonald, Brittany D.
- Miller, Neil
- Modrcin, Ann
- Nair, Annapoorna
- Neal, Shelby H.
- Oermann, Christopher M.
- Pacicca, Donna M.
- Pawar, Kailash
- Posey, Nyshele L.
- Price, Nigel
- Puckett, Laura M.B.
- Quezada, Julio F.
- Raje, Nikita
- Rowell, William J.
- Rush, Eric T.
- Sampath, Venkatesh
- Saunders, Carol J.
- Schwager, Caitlin
- Schwend, Richard M.
- Shaffer, Elizabeth
- Smail, Craig
- Soden, Sarah
- Strenk, Meghan E.
- Sullivan, Bonnie R.
- Sweeney, Brooke R.
- Tam-Williams, Jade B.
- Walter, Adam M.
- Welsh, Holly
- Wenger, Aaron M.
- Willig, Laurel K.
- Yan, Yun
- Younger, Scott T.
- Zhou, Dihong
- Zion, Tricia N.
- Thiffault, Isabelle
- Pastinen, Tomi
2022
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Genetics in Medicine Open, 2024, Vol.2, p.101132, Article 101132
2024
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American journal of human genetics, 2023-05, Vol.110 (5), p.809-825
- Smallwood, Kelly
- Watt, Kristin E.N.
- Ide, Satoru
- Baltrunaite, Kristina
- Brunswick, Chad
- Inskeep, Katherine
- Capannari, Corrine
- Adam, Margaret P.
- Begtrup, Amber
- Bertola, Debora R.
- Demmer, Laurie
- Demo, Erin
- Devinsky, Orrin
- Gallagher, Emily R.
- Guillen Sacoto, Maria J.
- Jech, Robert
- Keren, Boris
- Kussmann, Jennifer
- Ladda, Roger
- Lansdon, Lisa A.
- Lunke, Sebastian
- Mardy, Anne
- McWalters, Kirsty
- Person, Richard
- Raiti, Laura
- Saitoh, Noriko
- Saunders, Carol J.
- Schnur, Rhonda
- Skorvanek, Matej
- Sell, Susan L.
- Slavotinek, Anne
- Sullivan, Bonnie R.
- Stark, Zornitza
- Symonds, Joseph D.
- Wenger, Tara
- Weber, Sacha
- Whalen, Sandra
- White, Susan M.
- Winkelmann, Juliane
- Zech, Michael
- Zeidler, Shimriet
- Maeshima, Kazuhiro
- Stottmann, Rolf W.
- Trainor, Paul A.
- Weaver, K. Nicole
2023
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European journal of medical genetics, 2021-07, Vol.64 (7), p.104243-104243, Article 104243
2021
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Genetics in medicine, 2023-05, Vol.25 (5), p.100020-100020, Article 100020
- Zion, Tricia N.
- Berrios, Courtney D.
- Cohen, Ana S.A.
- Bartik, Lauren
- Cross, Laura A.
- Engleman, Kendra L.
- Fleming, Emily A.
- Gadea, Randi N.
- Hughes, Susan S.
- Jenkins, Janda L.
- Kussmann, Jennifer
- Lawson, Caitlin
- Schwager, Caitlin
- Strenk, Meghan E.
- Welsh, Holly
- Rush, Eric T.
- Amudhavalli, Shivarajan M.
- Sullivan, Bonnie R.
- Zhou, Dihong
- Gannon, Jennifer L.
- Heese, Bryce A.
- Moore, Riley
- Boillat, Emelia
- Biswell, Rebecca L.
- Louiselle, Daniel A.
- Puckett, Laura M.B.
- Beyer, Shanna
- Neal, Shelby H.
- Sierant, Victoria
- McBeth, Macy
- Belden, Bradley
- Walter, Adam M.
- Gibson, Margaret
- Cheung, Warren A.
- Johnston, Jeffrey J.
- Thiffault, Isabelle
- Farrow, Emily G.
- Grundberg, Elin
- Pastinen, Tomi
2023
Link zum Volltext
Nature communications, 2021-02, Vol.12 (1), p.833-13, Article 833
- Faundes, Víctor
- Jennings, Martin D
- Crilly, Siobhan
- Legraie, Sarah
- Withers, Sarah E
- Cuvertino, Sara
- Davies, Sally J
- Douglas, Andrew G L
- Fry, Andrew E
- Harrison, Victoria
- Amiel, Jeanne
- Lehalle, Daphné
- Newman, William G
- Newkirk, Patricia
- Ranells, Judith
- Splitt, Miranda
- Cross, Laura A
- Saunders, Carol J
- Sullivan, Bonnie R
- Granadillo, Jorge L
- Gordon, Christopher T
- Kasher, Paul R
- Pavitt, Graham D
- Banka, Siddharth
2021
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Genetics in Medicine Open, 2023, Vol.1 (1), p.100504, Article 100504
2023
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Genetics in Medicine Open, 2024, Vol.2, p.101292, Article 101292
2024
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Scientific reports, 2017-02, Vol.7 (1), p.41570, Article 41570
- Bragg, Robert M.
- Coffey, Sydney R.
- Weston, Rory M.
- Ament, Seth A.
- Cantle, Jeffrey P.
- Minnig, Shawn
- Funk, Cory C.
- Shuttleworth, Dominic D.
- Woods, Emily L.
- Sullivan, Bonnie R.
- Jones, Lindsey
- Glickenhaus, Anne
- Anderson, John S.
- Anderson, Michael D.
- Dunnett, Stephen B.
- Wheeler, Vanessa C.
- MacDonald, Marcy E.
- Brooks, Simon P.
- Price, Nathan D.
- Carroll, Jeffrey B.
2017
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Clinical case reports, 2016-07, Vol.4 (7), p.696-698
2016
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Clinical case reports, 2016-07, Vol.4 (7), p.696-698
2016
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Scientific reports, 2017-03, Vol.7, p.44960-44960
- Bragg, Robert M
- Coffey, Sydney R
- Weston, Rory M
- Ament, Seth A
- Cantle, Jeffrey P
- Minnig, Shawn
- Funk, Cory C
- Shuttleworth, Dominic D
- Woods, Emily L
- Sullivan, Bonnie R
- Jones, Lindsey
- Glickenhaus, Anne
- Anderson, John S
- Anderson, Michael D
- Dunnett, Stephen B
- Wheeler, Vanessa C
- Macdonald, Marcy E
- Brooks, Simon P
- Price, Nathan D
- Carroll, Jeffrey B
2017
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Molecular genetics and metabolism, 2021-04, Vol.132, p.S282
2021
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Molecular genetics and metabolism, 2021-04, Vol.132, p.S282-S282
2021
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Annals of neurology, 2024-02, Vol.95 (2), p.365-376
2024
Link zum Volltext
Journal of medical genetics, 2023-06, Vol.60 (6), p.587
- Kolvenbach, Caroline M
- Felger, Tim
- Schierbaum, Luca
- Thiffault, Isabelle
- Pastinen, Tomi
- Szczepańska, Maria
- Zaniew, Marcin
- Adamczyk, Piotr
- Bayat, Allan
- Yilmaz, Öznur
- Lindenberg, Tobias T
- Thiele, Holger
- Hildebrandt, Friedhelm
- Hinderhofer, Katrin
- Moog, Ute
- Hilger, Alina C
- Sullivan, Bonnie
- Bartik, Lauren
- Gnyś, Piotr
- Grote, Phillip
- Odermatt, Benjamin
- Reutter, Heiko M
- Dworschak, Gabriel C
2023
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American journal of medical genetics. Part A, 2022-11, Vol.188 (11), p.3262-3277
2022
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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, 2021-02, Vol.185 (2), p.413-423
2021
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Journal of inherited metabolic disease, 2020-09, Vol.43 (5), p.1131-1142
- Zhao, Piming
- Liu, Isaac D.
- Hodgin, Jeffrey B.
- Benke, Peter I.
- Selva, Jeremy
- Torta, Federico
- Wenk, Markus R.
- Endrizzi, James A.
- West, Olivia
- Ou, Weixing
- Tang, Emily
- Goh, Denise Li‐Meng
- Tay, Stacey Kiat‐Hong
- Yap, Hui‐Kim
- Loh, Alwin
- Weaver, Nicole
- Sullivan, Bonnie
- Larson, Austin
- Cooper, Megan A.
- Alhasan, Khalid
- Alangari, Abdullah A.
- Salim, Suha
- Gumus, Evren
- Chen, Karin
- Zenker, Martin
- Hildebrandt, Friedhelm
- Saba, Julie D.
2020
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Anesthesia and analgesia, 2017-11, Vol.125 (5), p.1616-1626
2017
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American journal of transplantation, 2019-07, Vol.19 (7), p.2131-2133
- McDonald, Robert
- Ruppert, Patricia Schnabel
- Souto, Maria
- Johns, Dylan E.
- McKay, Kevin
- Bessette, Noelle
- McNulty, Lissette X.
- Crawford, Jennifer E.
- Bryant, Patrick
- Mosquera, Maria Cecilia
- Frontin, Sonya
- Deluna‐Evans, Tatiana
- Regenye, Daniel E.
- Zaremski, Elizabeth F.
- Landis, Vanessa J.
- Sullivan, Bonnie
- Rumpf, Brian E.
- Doherty, Judi
- Sen, Kathryn
- Adler, Eric
- DiFedele, Lisa
- Ostrowski, Stephanie
- Compton, Christine
- Rausch‐Phung, Elizabeth
- Gelman, Irina
- Montana, Barbara
- Blog, Debra
- Hutton, Bradley J.
- Zucker, Howard A.
2019
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