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Title	Author(s)	Issue Date
Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: towards recommendation for molecular testing and management Journal:Clinical Genetics	Avila, M Dyment, DA Sagen, JV St-Onge, J Moog, U Chung, BHY Mansour, S Albanese, A Garcia,, S Ortiz Martin, D Lopez, AA Claudi, T König, R White, SM Sawyer, SL Bernstein, JA Slattery, L Jobling, RK Yoon, G Curry, CJ Le Merrer, M Le Luyer, B Héron, D Mathieu-Dramard, M Bitoun, P Odent, S Amiel, J Kuentz, P Thevenon, J Laville, M Reznik, Y Fagour, C Nunes, ML Delesalle, D Manouvrier, S Lascols, O Huet, F Binquet, C Faivre, L Rivière, JB Vigouroux, C Njølstad, PR Innes, AC Thauvin-Robinet, C	2016
De novo C-terminal truncating mutations in MN1 cause a neurodevelopmental syndrome with distinctive facial features Proceeding/Conference:European Human Genetics Conference, 2019	Gordon, CT Leung, KC Mak, CCY Doherty, D Lin, A Vegas, N Cho, M Dimartino, C Weisfeld-Adams, J Lessel, D Joss, S Li, C Gonzaga-Jauregui, C Zarate, Y Troyer, C Kant, S Leung, G Barone, A Yang, S Bend, E Roadhouse, C Zahir, F Stolerman, E Bienvenu, T Orenstein, N Dobyns, W Shieh, J Waggoner, D Gripp, K Parker, M Stoler, J Lyonnet, S Cormiere-Daire, V Viskochil, D Hoffman, T Amiel, J Chung, BHY	2019
Differential contributions of rare and common, coding and noncoding ret mutations to multifactorial hirschsprung disease liability Journal:American Journal of Human Genetics	Emison, ES GarciaBarcelo, M Grice, EA Lantieri, F Amiel, J Burzynski, G Fernandez, RM Hao, L Kashuk, C West, K Miao, X Tam, PKH Griseri, P Ceccherini, I Pelet, A Jannot, AS De Pontual, L HenrionCaude, A Lyonnet, S Verheij, JBGM Hofstra, RMW Antiñolo, G Borrego, S McCallion, AS Chakravarti, A	2010
Differential liabilities of coding and non-coding mutations in complex disease Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2005	Burzynski, G Amiel, J Antinolo, G Borrego,, S Ceccherini, I Emison, E Eng, C Fernandez, R Garcia-Barcelo, MM Griseri, P Hofstra, R Kashuk, C Lantieri, F Lyonnet, S Tam, PKH Tullio-Pelet, A West, K Chakravarti, A	2005
Differential liabilities of rare coding and common non-coding RET mutations explain the multifactorial genetics of Hirschsprung diseases Proceeding/Conference:GRC on Human Genetics & Genomics	Emison, E Burzynski, G Amiel, J Borrego, S Ceccherini,, I Fernandez, R Garcia-Barcelo, MM Griseri, P Hofstra, R Kashuk, CS Lantieri, F Lyonnet, S Tam, PKH Pecina, A Tullio-Pelet,, A West, K Chakravarti, A	2005
Exonic de novo mutations in sporadic Hirschsprung disease Proceeding/Conference:European Journal of Human Genetics	Hofstra, RMW Gui, H Schriemer, D Griseri, P Pelet, A Ruiz-Ferrer, M Berrios, C van Ijcken, W van den Hout, M Tam, PKH Cheng, W Tang, SM Eggen, BJL Matera, I Ceccherini, I Amiel, J Lyonnet, S Antinolo, G Borrego, S Chakravarti, A Garcia-Barcelo, MM	2014
Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases Journal:Human Mutation	Vegas, N Demir, Z Gordon, CT Breton, S Romanelli Tavares, VL Moisset, H Zechi-Ceide, R Kokitsu-Nakata, NM Kido, Y Marlin, S Gherbi Halem, S Meerschaut, L Callewaert, B Chung, BHY Revencu, N Lehalle, D Petit, F Propst, EJ Papsin, BC Phillips, JH Jakobsen, L Le Tanno, P Thevenon, J McGaughran, J Gerkes, EH Leoni, C Kroisel, P Tan, TY Henderson, A Terhal, P Basel-Salmon, L Alkindy, A White, SM Passos-Bueno, MR Pingault, V De Pontual, L Amiel, J	2022
Genes regulating enteric nervous system development are impacted by Copy Number loss and modify penetrance in epistasis with RET Proceeding/Conference:European Journal of Human Genetics	Kuil, L Tang, SM Windster, JD Le, T Karim, A de Graaf, BM van der Helm, R van Bever, Y Sloots, CEJ Meeussen, C Tibboel, D de Klein, A Wijnen, RMH Amiel, J Lyonnet, S Garcia-Barcelo, MM Tam, PKH Alves, MM Brooks, AS Hofstra, RMW Brosens, E	2020
Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprungs disease Journal:Human Molecular Genetics	Amiel, J Attie, T Jan, D Pelet, A Edery, P Bidaud, C Lacombe, D Tam, PKH Simeoni, J Flori, E Nihoul-Fekete, C Munnich, A Lyonnet, S	1996
Heterozygous endothelin receptor B mutation in isolated Hirschsprung's disease Proceeding/Conference:Annual International Congress of British Association of Paediatric Surgeons	Amiel, J Attie, T Burge, D Griffiths, M Lyonnet, S Tam, PKH	1996
Higher prevalence of Hirschsprung disease in China explained by a common RET mutation Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2006	Garcia-Barcelo, MM Amiel, J Antinolo, G Borrego, S Burzynski, G Ceccherini, I Emison, E Eng, C Fernandez, R Griseri, P Hofstra, R Kashuk, C Lantien, F Lyonnet, S Miao, X Tam, PKH Tullio-Pelet, A West, K Chakravarti, A	2006
Hirschsprung disease, associated syndromes and genetics: A review Journal:Journal of Medical Genetics	Amiel, J SproatEmison, E GarciaBarcelo, M Lantieri, F Burzynski, G Borrego, S Pelet, A Arnold, S Miao, X Griseri, P Brooks, AS Antinolo, G De Pontual, L ClementZiza, M Munnich, A Kashuk, C West, K Wong, KKY Lyonnet, S Chakravarti, A Tam, PKH Ceccherini, I Hofstra, RMW Fernandez, R	2008
Interaction Between A Chromosome 10 Ret Enhancer And Chromosome 21 In The Down Syndrome-Hirschsprung Disease Association Journal:Human Mutation	Arnold, S Pelet, A Amiel, J Borrego, S Hofstra, R Tam, PKH Ceccherini, I Lyonnet, S Sherman, S Chakravarti, A	2009
The International Hirschsprung's Disease Consortium: differential liabiilties of coding and non-coding mutations in complex disease Proceeding/Conference:Annual International Congress of the British Association of Paediatric Suregons, BAPS 2006	Tam, PKH Garcia-Barcelo, MM Tullio-Pelet, A Lyonnet, S Lantieri, F Kashuk, C Hofstra, R Griseri, P Fernandez, R Eng, C Emison, E Burzynski, G Ceccherini, I Borrego, S Antinolo, G Amiel, J West, K Chakravarti, A	2006
Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease Journal:European Journal of Human Genetics	Jannot, AS Amiel, J Pelet, A Lantieri, F Fernandez, RM Verheij, JBGM GarciaBarcelo, M Arnold, S Ceccherini, I Borrego, S Hofstra, RMW Tam, PKH Munnich, A Chakravarti, A ClergetDarpoux, F Lyonnet, S	2012
Mandibulofacial dysostosis Guion-Almeida type caused by novel EFTUD2 splice site variants in two Asian children Journal:Clinical Dysmorphology	Yu, KPT Luk, HM Gordon, CT Fung, G Oufadem, M Garcia-Barcelo, MM Amiel, J Chung, BHY Lo, FMI Tan, TY	2018
Mandibulofacial dysostosis with microcephaly caused by a novel "EFTUD2" mutation in a Chinese infant Proceeding/Conference:HKU Department of Paediatrics & Adolescent Medicine Golden Jubilee Scientific Meeting	Fung, GPC Chu, WY Chan, HB Oufadem, M Amiel, J Gordon, CT Chung, BHY Tan, TY	2014
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis Journal:Brain	Mak, CCY Doherty, D Lin, AE Vegas, N Cho, MT Viot, G Dimartino, C Weisfeld-Adams, JD Lessel, D Joss, S Li, C Gonzaga-Jauregui, C Zarate, YA Ehmke, N Horn, D Troyer, C Kant, SG Lee, Y Ishak, GE Leung, G Barone Pritchard, A Yang, S Bend, EG Filippini, F Roadhouse, C Lebrun, N Mehaffey, MG Martin, P-M Apple, B Millan, F Puk, O Hoffer, MJV Henderson, LB McGowan, R Wentzensen, IM Pei, S Zahir, FR YU, M Gibson, WT Senab, A Steeves, M Murrell, JR Luettgen, S Francisco, E Strom, TM Amlie-Wolf, L Kaindl, AM Wilson, WG Halbach, S Basel-Salmon, L Lev-El, N Denecke, J Vissers, LELM Radtke, K Chelly, J Zackai, E Friedman, JM Bamshad, MJ Nickerson, DA Reid, RR Devriendt, K Chae, JH Stolerman, E McDougall, C Powis, Z Bienvenu, T Tan, TY Orenstein, N Dobyns, WB Shieh, JT Choi, M Waggoner, D Gripp, KW Parker, MJ Stoler, J Lyonnet, S Cormier-Daire, V Viskochil, D Hoffman, TL Amiel, J Chung, BHY Gordon, CT University of Washington Center for Mendelian Genomics	2020
Patterns and rates of exonic de novo mutations in sporadic Hirschsprung disease patients Proceeding/Conference:European Journal of Human Genetics	Gui, H Schriemer, D Eggen, BJL Hofstra, RMW van Ijcken, W van den Hout, M Griseri, P Matera, I Ceccherini, I Pelet, A Amiel, J Lyonnet, S Garcia-Barcelo, M Tam, PKH Ruiz-Ferrer, M Antinolo, G Borrego, S Berrios, C Chakravarti, A	2013
Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development Journal:PLoS Genetics	Kuil, LE MacKenzie, KC Tang, CS Windster, JD Le, TL KARIM, A de Graaf, BM van der Helm, R van Bever, Y Sloots, CEJ Meeussen, C Tibboel, D de Klein, A Wijnen, RMH Amiel, J Lyonnet, S Garcia-Barcelo, MM Tam, PKH Alves, MM Brooks, AS Hofstra, RMW Brosens, E Editor(s):Barsh, GS	2021

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