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Hum Mutat

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American Journal of Medical Genetics Part A. 197

Hammann, Nicole ; Lenz, Dominic ; Baric, Ivo ; Crushell, Ellen ; Vici, Carlo Dionisi ; Distelmaier, Felix ; Feillet, Francois ; Freisinger, Peter ; Hempel, Maja ; Khoreva, Anna L. ; Laass, Martin W. ; Lacassie, Yves ; Lainka, Elke ; Larson-Nath, Catherine ; Li, Zhongdie ; Lipiński, Patryk ; Lurz, Eberhard ; Mégarbané, André ; Nobre, Susana ; Olivieri, Giorgia ; Peters, Bianca ; Prontera, Paolo ; Schlieben, Lea D. ; Seroogy, Christine M. ; Sobacchi, Cristina ; Suzuki, Shigeru ; Tran, Christel ; Vockley, Jerry ; Wang, Jian-She ; Wagner, Matias ; Prokisch, Holger ; Garbade, Sven F. ; Kölker, Stefan ; Hoffmann, Georg F. ; Staufner, Christian

In Molecular Genetics and Metabolism March 2024 141(3)

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Scientific Reports, Vol 13, Iss 1, Pp 1-23 (2023)

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J Med Genet
Minatogawa, M, Unzaki, A, Morisaki, H, Syx, D, Sonoda, T, Janecke, A R, Slavotinek, A, Voermans, N C, Lacassie, Y, Mendoza-Londono, R, Wierenga, K J, Jayakar, P, Gahl, W A, Tifft, C J, Figuera, L E, Hilhorst-Hofstee, Y, Maugeri, A, Ishikawa, K, Kobayashi, T, Aoki, Y, Ohura, T, Kawame, H, Kono, M, Mochida, K, Tokorodani, C, Kikkawa, K, Morisaki, T, Kobayashi, T, Nakane, T, Kubo, A, Ranells, J D, Migita, O, Sobey, G, Kaur, A, Ishikawa, M, Yamaguchi, T, Matsumoto, N, Malfait, F, Miyake, N & Kosho, T 2022, 'Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)', Journal of Medical Genetics, vol. 59, no. 9, pp. 865-877. https://doi.org/10.1136/jmedgenet-2020-107623
Journal of Medical Genetics, 59, 9, pp. 865-877

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American Journal of Medical Genetics Part A. 185:1242-1246

Michelle E. Walters; Yves Lacassie; Mahshid Azamian; Rachel Franciskovich; Gladys Zapata; Patricia P. Hernandez; Pengfei Liu; Ian M. Campbell; Bret L. Bostwick; Seema R. Lalani

American Journal of Medical Genetics Part A. 185:916-922

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Paediatrics Publications

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American Journal of Medical Genetics Part A. 182:1767-1775

Casano, Kelsey ; Meddaugh, Hannah ; Zambrano, Regina M. ; Marble, Michael ; Torres, Jairo I. ; Lacassie, Yves

In European Journal of Medical Genetics April 2020 63(4)

Elliot S. Stolerman; Elizabeth Francisco; Jennifer L. Stallworth; Julie R. Jones; Kristin G. Monaghan; Jennifer Keller‐Ramey; Richard Person; Ingrid M. Wentzensen; Kirsty McWalter; Boris Keren; Benedicte Heron; Caroline Nava; Delphine Heron; Katherine Kim; Barbara Burton; Fatima Al‐Musafri; Lauren O'Grady; Inderneel Sahai; Luis F. Escobar; Marije Meuwissen; Edwin Reyniers; Frank Kooy; Yves Lacassie; Meral Gunay‐Aygun; Krista Sondergaard Schatz; Ron Hochstenbach; Petra J.G. Zwijnenburg; Quinten Waisfisz; Marjon van Slegtenhorst; Grazia M.S. Mancini; Raymond J. Louie

Stolerman, E S, Francisco, E, Stallworth, J L, Jones, J R, Monaghan, K G, Keller-Ramey, J, Person, R, Wentzensen, I M, McWalter, K, Keren, B, Heron, B, Nava, C, Heron, D, Kim, K, Burton, B, Al-Musafri, F, O'Grady, L, Sahai, I, Escobar, L F, Meuwissen, M, Reyniers, E, Kooy, F, Lacassie, Y, Gunay-Aygun, M, Schatz, K S, Hochstenbach, R, Zwijnenburg, P J G, Waisfisz, Q, van Slegtenhorst, M, Mancini, G M S & Louie, R J 2019, 'Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features', American Journal of Medical Genetics, Part A, vol. 179, no. 7, pp. 1276-1286. https://doi.org/10.1002/ajmg.a.61173
American journal of medical genetics : part A

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Human Mutation. 43

Jennie C, Lacour; Lori, McBride; Hugo, St Hilaire; Gerhard S, Mundinger; Michael, Moses; Jessica, Koon; Jairo I, Torres; Yves, Lacassie

The Cleft Palate Craniofacial Journal. 56:674-678

John McCarthy; Philip J. Lupo; Erin Kovar; Megan Rech; Bret Bostwick; Daryl Scott; Katerina Kraft; Tony Roscioli; Joel Charrow; Samantha A. Schrier Vergano; Edward Lose; Robert Smiegel; Yves Lacassie; Christian P. Schaaf

Am J Med Genet A

World Journal of Ophthalmology & Vision Research. 4

Rall, Natalie ; Leon, Alejandro ; Gomez, Ricardo ; Daroca, Jessica ; Lacassie, Yves

In European Journal of Medical Genetics January 2018 61(1):21-23

Nicolas M, Chanes; Joaquin, Wong; Yves, Lacassie

Clinical Dysmorphology. 28:149-151

Murphy, Heidi ; Patrick, Jessica ; Báez-Irizarry, Eileen ; Lacassie, Yves ; Gómez, Ricardo ; Vargas, Alfonso ; Barkemeyer, Brian ; Kanotra, Sohit ; Zambrano, Regina M.

In European Journal of Medical Genetics April 2016 59(4):227-231

Kirsten A. Wood; Regina M. Zambrano; Bradley J. Cheek; Christopher Arcement; Marie Haymon; Jessica Steinkampf; Srirangan Sampath; James C. Hyland; Yves Lacassie

Clin Case Rep

Claire Redin; Harrison Brand; Ryan L Collins; Tammy Kammin; Elyse Mitchell; Jennelle C Hodge; Carrie Hanscom; Vamsee Pillalamarri; Catarina M Seabra; Mary-Alice Abbott; Omar A Abdul-Rahman; Erika Aberg; Rhett Adley; Sofia L Alcaraz-Estrada; Fowzan S Alkuraya; Yu An; Mary-Anne Anderson; Caroline Antolik; Kwame Anyane-Yeboa; Joan F Atkin; Tina Bartell; Jonathan A Bernstein; Elizabeth Beyer; Ian Blumenthal; Ernie M H F Bongers; Eva H Brilstra; Chester W Brown; Hennie T Brüggenwirth; Bert Callewaert; Colby Chiang; Ken Corning; Helen Cox; Edwin Cuppen; Benjamin B Currall; Tom Cushing; Dezso David; Matthew A Deardorff; Annelies Dheedene; Marc D'Hooghe; Bert B A de Vries; Dawn L Earl; Heather L Ferguson; Heather Fisher; David R FitzPatrick; Pamela Gerrol; Daniela Giachino; Joseph T Glessner; Troy Gliem; Margo Grady; Brett H Graham; Cristin Griffis; Karen W Gripp; Andrea L Gropman; Andrea Hanson-Kahn; David J Harris; Mark A Hayden; Rosamund Hill; Ron Hochstenbach; Jodi D Hoffman; Robert J Hopkin; Monika W Hubshman; A Micheil Innes; Mira Irons; Melita Irving; Jessie C Jacobsen; Sandra Janssens; Tamison Jewett; John P Johnson; Marjolijn C Jongmans; Stephen G Kahler; David A Koolen; Jerome Korzelius; Peter M Kroisel; Yves Lacassie; William Lawless; Emmanuelle Lemyre; Kathleen Leppig; Alex V Levin; Haibo Li; Hong Li; Eric C Liao; Cynthia Lim; Edward J Lose; Diane Lucente; Michael J Macera; Poornima Manavalan; Giorgia Mandrile; Carlo L Marcelis; Lauren Margolin; Tamara Mason; Diane Masser-Frye; Michael W McClellan; Cinthya J Zepeda Mendoza; Björn Menten; Sjors Middelkamp; Liya R Mikami; Emily Moe; Shehla Mohammed; Tarja Mononen; Megan E Mortenson; Graciela Moya; Aggie W Nieuwint; Zehra Ordulu; Sandhya Parkash; Susan P Pauker; Shahrin Pereira; Danielle Perrin; Katy Phelan; Raul E Piña Aguilar; Pino J Poddighe; Giulia Pregno; Salmo Raskin; Linda Reis; William Rhead; Debra Rita; Ivo Renkens; Filip Roelens; Jayla Ruliera; Patrick Rump; Samantha L P Schilit; Ranad Shaheen; Rebecca Sparkes; Erica Spiegel; Blair Stevens; Matthew R Stone; Julia Tagoe; Joseph V Thakuria; Bregje W van Bon; Jiddeke van de Kamp; Ineke van Der Burgt; Ton van Essen; Conny M van Ravenswaaij-Arts; Markus J van Roosmalen; Sarah Vergult; Catharina M L Volker-Touw; Dorothy P Warburton; Matthew J Waterman; Susan Wiley; Anna Wilson; Maria de la Concepcion A Yerena-de Vega; Roberto T Zori; Brynn Levy; Han G Brunner; Nicole de Leeuw; Wigard P Kloosterman; Erik C Thorland; Cynthia C Morton; James F Gusella; Michael E Talkowski

Redin, C, Brand, H, Collins, R L, Kammin, T, Mitchell, E, Hodge, J C, Hanscom, C, Pillalamarri, V, Seabra, C M, Abbott, M A, Abdul-Rahman, O A, Aberg, E, Adley, R, Alcaraz-Estrada, S L, Alkuraya, F S, An, Y, Anderson, M A, Antolik, C, Anyane-Yeboa, K, Atkin, J F, Bartell, T, Bernstein, J A, Beyer, E, Blumenthal, I, Bongers, E M H F, Brilstra, E H, Brown, C W, Brüggenwirth, H T, Callewaert, B, Chiang, C, Corning, K, Cox, H, Cuppen, E, Currall, B B, Cushing, T, David, D, Deardorff, M A, Dheedene, A, D'Hooghe, M, De Vries, B B A, Earl, D L, Ferguson, H L, Fisher, H, FitzPatrick, D R, Gerrol, P, Giachino, D, Glessner, J T, Gliem, T, Grady, M, Graham, B H, Griffis, C, Gripp, K W, Gropman, A L, Hanson-Kahn, A, Harris, D J, Hayden, M A, Hill, R, Hochstenbach, R, Hoffman, J D, Hopkin, R J, Hubshman, M W, Innes, A M, Irons, M, Irving, M, Jacobsen, J C, Janssens, S, Jewett, T, Johnson, J P, Jongmans, M C, Kahler, S G, Koolen, D A, Korzelius, J, Kroisel, P M, Lacassie, Y, Lawless, W, Lemyre, E, Leppig, K, Levin, A V, Li, H, Li, H, Liao, E C, Lim, C, Lose, E J, Lucente, D, MacEra, M J, Manavalan, P, Mandrile, G, Marcelis, C L, Margolin, L, Mason, T, Masser-Frye, D, McClellan, M W, Zepeda Mendoza, C J, Menten, B, Middelkamp, S, Mikami, L R, Moe, E, Mohammed, S, Mononen, T, Mortenson, M E, Moya, G, Nieuwint, A W, Ordulu, Z, Parkash, S, Pauker, S P, Pereira, S, Perrin, D, Phelan, K, Piña Aguilar, R E, Poddighe, P J, Pregno, G, Raskin, S, Reis, L, Rhead, W, Rita, D, Renkens, I, Roelens, F, Ruliera, J, Rump, P, Schilit, S L P, Shaheen, R, Sparkes, R, Spiegel, E, Stevens, B, Stone, M R, Tagoe, J, Thakuria, J V, Van Bon, B W, Van De Kamp, J, Van Der Burgt, I, Van Essen, T, Van Ravenswaaij-Arts, C M, Van Roosmalen, M J, Vergult, S, Volker-Touw, C M L, Warburton, D P, Waterman, M J, Wiley, S, Wilson, A, Yerena-De Vega, M D L C A, Zori, R T, Levy, B, Brunner, H G, De Leeuw, N, Kloosterman, W P, Thorland, E C, Morton, C C, Gusella, J F & Talkowski, M E 2017, 'The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies', Nature Genetics, vol. 49, no. 1, pp. 36-45. https://doi.org/10.1038/ng.3720
Nature Genetics, 49, 1, pp. 36-45
Redin, C, Brand, H, Collins, R L, Kammin, T, Mitchell, E, Hodge, J C, Hanscom, C, Pillalamarri, V, Seabra, C M, Abbott, M-A, Abdul-Rahman, O A, Aberg, E, Adley, R, Alcaraz-Estrada, S L, Alkuraya, F S, An, Y, Anderson, M-A, Antolik, C, Anyane-Yeboa, K, Atkin, J F, Bartell, T, Bernstein, J A, Beyer, E, Blumenthal, I, Bongers, E M H F, Brilstra, E H, Brown, C W, Brüggenwirth, H T, Callewaert, B, Chiang, C, Corning, K, Cox, H, Cuppen, E, Currall, B B, Cushing, T, David, D, Deardorff, M A, Dheedene, A, D'Hooghe, M, de Vries, B B A, Earl, D L, Ferguson, H L, Fisher, H, FitzPatrick, D R, Gerrol, P, Giachino, D, Glessner, J T, Gliem, T, Grady, M, Graham, B H, Griffis, C, Gripp, K W, Gropman, A L, Hanson-Kahn, A, Harris, D J, Hayden, M A, Hill, R, Hochstenbach, R, Hoffman, J D, Hopkin, R J, Hubshman, M W, Innes, A M, Irons, M, Irving, M, Jacobsen, J C, Janssens, S, Jewett, T, Johnson, J P, Jongmans, M C, Kahler, S G, Koolen, D A, Korzelius, J, Kroisel, P M, Lacassie, Y, Lawless, W, Lemyre, E, Leppig, K, Levin, A V, Li, H, Li, H, Liao, E C, Lim, C, Lose, E J, Lucente, D, Macera, M J, Manavalan, P, Mandrile, G, Marcelis, C L, Margolin, L, Mason, T, Masser-Frye, D, McClellan, M W, Mendoza, C J Z, Menten, B, Middelkamp, S, Mikami, L R, Moe, E, Mohammed, S, Mononen, T, Mortenson, M E, Moya, G, Nieuwint, A W, Ordulu, Z, Parkash, S, Pauker, S P, Pereira, S, Perrin, D, Phelan, K, Aguilar, R E P, Poddighe, P J, Pregno, G, Raskin, S, Reis, L, Rhead, W, Rita, D, Renkens, I, Roelens, F, Ruliera, J, Rump, P, Schilit, S L P, Shaheen, R, Sparkes, R, Spiegel, E, Stevens, B, Stone, M R, Tagoe, J, Thakuria, J V, van Bon, B W, van de Kamp, J, van Der Burgt, I, van Essen, T, van Ravenswaaij-Arts, C M, van Roosmalen, M J, Vergult, S, Volker-Touw, C M L, Warburton, D P, Waterman, M J, Wiley, S, Wilson, A, Yerena-de Vega, M D L C A, Zori, R T, Levy, B, Brunner, H G, de Leeuw, N, Kloosterman, W P, Thorland, E C, Morton, C C, Gusella, J F & Talkowski, M E 2017, ' The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies ', Nature Genetics, vol. 49, no. 1, pp. 36-45 . https://doi.org/10.1038/ng.3720
Redin, C, Brand, H, Collins, R L, Kammin, T, Mitchell, E, Hodge, J C, Hanscom, C, Pillalamarri, V, Seabra, C M, Abbott, M-A, Abdul-Rahman, O A, Aberg, E, Adley, R, Alcaraz-Estrada, S L, Alkuraya, F S, An, Y, Anderson, M-A, Antolik, C, Anyane-Yeboa, K, Atkin, J F, Bartell, T, Bernstein, J A, Beyer, E, Blumenthal, I, Bongers, E M H F, Brilstra, E H, Brown, C W, Brüggenwirth, H T, Callewaert, B, Chiang, C, Corning, K, Cox, H, Cuppen, E, Currall, B B, Cushing, T, David, D, Deardorff, M A, Dheedene, A, D'Hooghe, M, de Vries, B B A, Earl, D L, Ferguson, H L, Fisher, H, FitzPatrick, D R, Gerrol, P, Giachino, D, Glessner, J T, Gliem, T, Grady, M, Graham, B H, Griffis, C, Gripp, K W, Gropman, A L, Hanson-Kahn, A, Harris, D J, Hayden, M A, Hill, R, Hochstenbach, R, Hoffman, J D, Hopkin, R J, Hubshman, M W, Innes, A M, Irons, M, Irving, M, Jacobsen, J C, Janssens, S, Jewett, T, Johnson, J P, Jongmans, M C, Kahler, S G, Koolen, D A, Korzelius, J, Kroisel, P M, Lacassie, Y, Lawless, W, Lemyre, E, Leppig, K, Levin, A V, Li, H, Li, H, Liao, E C, Lim, C, Lose, E J, Lucente, D, Macera, M J, Manavalan, P, Mandrile, G, Marcelis, C L, Margolin, L, Mason, T, Masser-Frye, D, McClellan, M W, Mendoza, C J Z, Menten, B, Middelkamp, S, Mikami, L R, Moe, E, Mohammed, S, Mononen, T, Mortenson, M E, Moya, G, Nieuwint, A W, Ordulu, Z, Parkash, S, Pauker, S P, Pereira, S, Perrin, D, Phelan, K, Aguilar, R E P, Poddighe, P J, Pregno, G, Raskin, S, Reis, L, Rhead, W, Rita, D, Renkens, I, Roelens, F, Ruliera, J, Rump, P, Schilit, S L P, Shaheen, R, Sparkes, R, Spiegel, E, Stevens, B, Stone, M R, Tagoe, J, Thakuria, J V, van Bon, B W, van de Kamp, J, van Der Burgt, I, van Essen, T, van Ravenswaaij-Arts, C M, van Roosmalen, M J, Vergult, S, Volker-Touw, C M L, Warburton, D P, Waterman, M J, Wiley, S, Wilson, A, Yerena-de Vega, M D L C A, Zori, R T, Levy, B, Brunner, H G, de Leeuw, N, Kloosterman, W P, Thorland, E C, Morton, C C, Gusella, J F & Talkowski, M E 2017, 'The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies', Nature Genetics, vol. 49, no. 1, pp. 36-45. https://doi.org/10.1038/ng.3720