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Genetics in medicine, 2022-09, Vol.24 (9), p.1952-1966
- Dias, Kerith-Rae
- Carlston, Colleen M.
- Blok, Laura E.R.
- De Hayr, Lachlan
- Nawaz, Urwah
- Evans, Carey-Anne
- Bayrak-Toydemir, Pinar
- Htun, Stephanie
- Zhu, Ying
- Ma, Alan
- Lynch, Sally Ann
- Moorwood, Catherine
- Stals, Karen
- Ellard, Sian
- Bainbridge, Matthew N.
- Friedman, Jennifer
- Pappas, John G.
- Rabin, Rachel
- Nowak, Catherine B.
- Douglas, Jessica
- Wilson, Theodore E.
- Guillen Sacoto, Maria J.
- Mullegama, Sureni V.
- Palculict, Timothy Blake
- Kirk, Edwin P.
- Pinner, Jason R.
- Edwards, Matthew
- Montanari, Francesca
- Graziano, Claudio
- Pippucci, Tommaso
- Dingmann, Bri
- Glass, Ian
- Mefford, Heather C.
- Shimoji, Takeyoshi
- Suzuki, Toshimitsu
- Yamakawa, Kazuhiro
- Streff, Haley
- Schaaf, Christian P.
- Slavotinek, Anne M.
- Voineagu, Irina
- Carey, John C.
- Buckley, Michael F.
- Schenck, Annette
- Harvey, Robert J.
- Roscioli, Tony
2022
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Journal of medical case reports, 2010-11, Vol.4 (1), p.361-361, Article 361
2010
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Molecular genetics and metabolism, 2016-09, Vol.119 (1-2), p.83-90
2016
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Journal of human genetics, 2010-01, Vol.55 (1), p.18-22
2010
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Genetics in medicine, 2022-01, Vol.24 (1), p.130-145
- Bommireddipalli, Shobhana
- Ades, Lesley
- Archibald, Alison D.
- Berman, Yemima
- Bojadzieva, Jasmina
- Brown, Natasha J.
- Bryen, Samantha J.
- Engel, Amanda
- Ewans, Lisa J.
- Fennell, Andrew
- Freckmann, Mary-Louise
- Gear, Russell
- Goel, Himanshu
- Goh, Shuxiang
- Harraway, James
- Higgins, Megan
- Ho, Gladys
- Hunter, Matthew F.
- Joshi, Himanshu
- Krzesinski, Emma
- Leventer, Richard J.
- Macaskill, Steven
- McCarthy, Hugh J.
- McLean, Alison
- Patel, Chirag
- Regan, Matthew
- Schindler, Tim
- Tantsis, Esther
- Tchan, Michel C.
- van Spaendonck-Zwarts, Karin
- White, Susan M.
- Williams, Mark G.
- Wright, Dale C.
- Yap, Patrick
- Yeung, Alison
- Jones, Kristi J.
- Cooper, Sandra T.
- Arts, Peer
- Barnett, Christopher
- Beshay, Victoria
- Blombery, Piers
- Boggs, Kirsten
- Branford, Susan
- Canson, Daffodil
- Chew, Edward
- Chong, Belinda
- Chung, Seo-Kyung
- Clark, Mike
- Compton, Alison
- Corbett, Mark
- Davis, Mark R.
- Dudding, Tracy
- Eyras, Eduardo
- Fellowes, Andrew
- Field, Michael
- Gaff, Clara
- Galea, Melanie
- Hanna, Bernadette
- Hayashi, Rippei
- Henderson, Alex
- Jackson, Matilda
- Wong, Justin Jong-Leong
- Kumble, Smitha
- Laing, Nigel
- Lau, Chiyan
- Lee, Eric
- Lundie, Ben
- Mallawaarachchi, Amali
- Meldrum, Cliff
- Mina, Kym
- Mowat, David
- Oshlack, Alicia
- Parsons, Michael
- Pinner, Jason R.
- Quinn, Michael
- Ravenscroft, Gina
- Ronan, Anne
- Sadedin, Simon
- Schreiber, Andreas
- Scott, Rodney
- Simons, Cas
- Smyth, Renee
- Thompson, Bryony A.
- Thorburn, David
- Trent, Ronald
- Tudini, Emma
- Wallis, Mathew
- Wilson, Meredith J.
- Winship, Ingrid
2022
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Nature medicine, 2023-01, Vol.29 (1), p.180-189
- Byrne, Alicia B
- Arts, Peer
- Ha, Thuong T
- Kassahn, Karin S
- Pais, Lynn S
- O'Donnell-Luria, Anne
- Babic, Milena
- Frank, Mahalia S B
- Feng, Jinghua
- Wang, Paul
- Lawrence, David M
- Eshraghi, Leila
- Arriola, Luis
- Toubia, John
- Nguyen, Hung
- McGillivray, George
- Pinner, Jason
- McKenzie, Fiona
- Morrow, Rebecca
- Lipsett, Jill
- Manton, Nick
- Khong, T Yee
- Moore, Lynette
- Liebelt, Jan E
- Schreiber, Andreas W
- King-Smith, Sarah L
- Hardy, Tristan S E
- Jackson, Matilda R
- Barnett, Christopher P
- Scott, Hamish S
2023
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Nature medicine, 2024-01, Vol.30 (1), p.302-302
- Byrne, Alicia B
- Arts, Peer
- Ha, Thuong T
- Kassahn, Karin S
- Pais, Lynn S
- O'Donnell-Luria, Anne
- Babic, Milena
- Frank, Mahalia S B
- Feng, Jinghua
- Wang, Paul
- Lawrence, David M
- Eshraghi, Leila
- Arriola, Luis
- Toubia, John
- Nguyen, Hung
- McGillivray, George
- Pinner, Jason
- McKenzie, Fiona
- Morrow, Rebecca
- Lipsett, Jill
- Manton, Nick
- Khong, T Yee
- Moore, Lynette
- Liebelt, Jan E
- Schreiber, Andreas W
- King-Smith, Sarah L
- Hardy, Tristan S E
- Jackson, Matilda R
- Barnett, Christopher P
- Scott, Hamish S
2024
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Journal of investigative dermatology, 2016-11, Vol.136 (11), p.2251-2259
- Mahil, Satveer K.
- Twelves, Sophie
- Farkas, Katalin
- Setta-Kaffetzi, Niovi
- Burden, A. David
- Gach, Joanna E.
- Irvine, Alan D.
- Képíró, László
- Mockenhaupt, Maja
- Oon, Hazel H.
- Pinner, Jason
- Ranki, Annamari
- Seyger, Marieke M.B.
- Soler-Palacin, Pere
- Storan, Eoin R.
- Tan, Eugene S.
- Valeyrie-Allanore, Laurence
- Young, Helen S.
- Trembath, Richard C.
- Choon, Siew-Eng
- Szell, Marta
- Bata-Csorgo, Zsuzsanna
- Smith, Catherine H.
- Di Meglio, Paola
- Barker, Jonathan N.
- Capon, Francesca
2016
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Brain & development (Tokyo. 1979), 2023-08, Vol.45 (7), p.401-407
2023
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Learning from scaling up ultra-rapid genomic testing for critically ill children to a national level
2021
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Genetics in medicine, 2020-12, Vol.22 (12), p.1976-1985
- Brett, Gemma R
- Martyn, Melissa
- Lynch, Fiona
- de Silva, Michelle G
- Ayres, Samantha
- Gallacher, Lyndon
- Boggs, Kirsten
- Baxendale, Anne
- Schenscher, Sarah
- King-Smith, Sarah
- Fowles, Lindsay
- Springer, Amanda
- Lunke, Sebastian
- Vasudevan, Anand
- Krzesinski, Emma
- Pinner, Jason
- Sandaradura, Sarah A
- Barnett, Christopher
- Patel, Chirag
- Wilson, Meredith
- Stark, Zornitza
2020
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Human mutation, 2020-02, Vol.41 (2), p.403-411
- Bryen, Samantha J.
- Ewans, Lisa J.
- Pinner, Jason
- MacLennan, Suzanna C.
- Donkervoort, Sandra
- Castro, Diana
- Töpf, Ana
- O'Grady, Gina
- Cummings, Beryl
- Chao, Katherine R.
- Weisburd, Ben
- Francioli, Laurent
- Faiz, Fathimath
- Bournazos, Adam M.
- Hu, Ying
- Grosmann, Carla
- Malicki, Denise M.
- Doyle, Helen
- Witting, Nanna
- Vissing, John
- Claeys, Kristl G.
- Urankar, Kathryn
- Beleza‐Meireles, Ana
- Baptista, Julia
- Ellard, Sian
- Savarese, Marco
- Johari, Mridul
- Vihola, Anna
- Udd, Bjarne
- Majumdar, Anirban
- Straub, Volker
- Bönnemann, Carsten G.
- MacArthur, Daniel G.
- Davis, Mark R.
- Cooper, Sandra T.
2020
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European journal of human genetics : EJHG, 2020-10, Vol.28 (10), p.1422-1431
- Drivas, Theodore G
- Li, Dong
- Nair, Divya
- Alaimo, Joseph T
- Alders, Mariëlle
- Altmüller, Janine
- Barakat, Tahsin Stefan
- Bebin, E Martina
- Bertsch, Nicole L
- Blackburn, Patrick R
- Blesson, Alyssa
- Bouman, Arjan M
- Brockmann, Knut
- Brunelle, Perrine
- Burmeister, Margit
- Cooper, Gregory M
- Denecke, Jonas
- Dieux-Coëslier, Anne
- Dubbs, Holly
- Ferrer, Alejandro
- Gal, Danna
- Bartik, Lauren E
- Gunderson, Lauren B
- Hasadsri, Linda
- Jain, Mahim
- Karimov, Catherine
- Keena, Beth
- Klee, Eric W
- Kloth, Katja
- Lace, Baiba
- Macchiaiolo, Marina
- Marcadier, Julien L
- Milunsky, Jeff M
- Napier, Melanie P
- Ortiz-Gonzalez, Xilma R
- Pichurin, Pavel N
- Pinner, Jason
- Powis, Zoe
- Prasad, Chitra
- Radio, Francesca Clementina
- Rasmussen, Kristen J
- Renaud, Deborah L
- Rush, Eric T
- Saunders, Carol
- Selcen, Duygu
- Seman, Ann R
- Shinde, Deepali N
- Smith, Erica D
- Smol, Thomas
- Snijders Blok, Lot
- Stoler, Joan M
- Tang, Sha
- Tartaglia, Marco
- Thompson, Michelle L
- van de Kamp, Jiddeke M
- Wang, Jingmin
- Weise, Dagmar
- Weiss, Karin
- Woitschach, Rixa
- Wollnik, Bernd
- Yan, Huifang
- Zackai, Elaine H
- Zampino, Giuseppe
- Campeau, Philippe
- Bhoj, Elizabeth
2020
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Clinical genetics, 2020-02, Vol.97 (2), p.376-377
2020
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American journal of human genetics, 2013-01, Vol.92 (1), p.150-156
- McMillin, Margaret J.
- Below, Jennifer E.
- Shively, Kathryn M.
- Beck, Anita E.
- Gildersleeve, Heidi I.
- Pinner, Jason
- Gogola, Gloria R.
- Hecht, Jacqueline T.
- Grange, Dorothy K.
- Harris, David J.
- Earl, Dawn L.
- Jagadeesh, Sujatha
- Mehta, Sarju G.
- Robertson, Stephen P.
- Swanson, James M.
- Faustman, Elaine M.
- Mefford, Heather C.
- Shendure, Jay
- Nickerson, Deborah A.
- Bamshad, Michael J.
2013
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Brain & development, 2023, Vol.45 (7), p.401-407
2023
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