Stessman Lab Publications
Stessman Lab Originals
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Sheppard SE, Bryant L, Wickramasekara RN, Vaccaro C, Robertson B, Hallgren J, Hulen J, Watson CJ, Faundes V, Duffourd Y, Lee P, Simon MC, de la Cruz X, Padilla N, Flores-Mendez M, Akizu N, Smiler J, Pellegrino Da Silva R, Li D, March M, Diaz-Rosado A, Peixoto de Barcelos I, Choa ZX, Lim CY, Dubourg C, Journel H, Demurger F, Mulhern M, Akman C, Lippa N, Andrews M, Baldridge D, Constantino J, van Haeringen A, Snoeck-Streef I, Chow P, Hing A, Graham JM Jr, Au M, Faivre L, Shen W, Mao R, Palumbos J, Viskochil D, Gahl W, Tifft C, Macnamara E, Hauser N, Miller R, Maffeo J, Afenjar A, Doummar D, Keren B, Arn P, Macklin-Mantia S, Meerschaut I, Callewaert B, Reis A, Zweier C, Brewer C, Saggar A, Smeland MF, Kumar A, Elmslie F, Deshpande C, Nizon M, Cogne B, van Ierland Y, Wilke M, van Slegtenhorst M, Koudijs S, Chen JY, Dredge D, Pier D, Wortmann S, Kamsteeg EJ, Koch J, Haynes D, Pollack L, Titheradge H, Ranguin K, Denommé-Pichon AS, Weber S, Pérez de la Fuente R, Sánchez Del Pozo J, Lezana Rosales JM, Joset P, Steindl K, Rauch A, Mei D, Mari F, Guerrini R, Lespinasse J, Tran Mau-Them F, Philippe C, Dauriat B, Raymond L, Moutton S, Cueto-González AM, Tan TY, Mignot C, Grotto S, Renaldo F, Drivas TG, Hennessy L, Raper A, Parenti I, Kaiser FJ, Kuechler A, Busk ØL, Islam L, Siedlik JA, Henderson LB, Juusola J, Person R, Schnur RE, Vitobello A, Banka S, Bhoj EJ*, Stessman HAF*. Sci Adv. 2023 Mar 10;9(10):eade1463. doi: 10.1126/sciadv.ade1463. Epub 2023 Mar 10. PMID: 36897941.
KMT5B is required for early motor development. Hulen J, Kenny D, Black R, Hallgren J, Hammond KG, Bredahl EC, Wickramasekara RN, Abel PW, Stessman HAF*. Front Genet. 2022 Aug 12;13:901228. doi: 10.3389/fgene.2022.901228. eCollection 2022. PMID: 36035149.
Differential effects by sex with Kmt5b loss. Wickramasekara RN, Robertson B, Hulen J, Hallgren J, Stessman HAF*. Autism Res. 2021 Aug;14(8):1554-1571. doi: 10.1002/aur.2516. Epub 2021 Apr 19. PMID: 33871180.
Wickramasekara RN, Stessman HAF (2019). Histone 4 Lysine 20 Methylation: A Case for Neurodevelopmental Disease. Biology (Basel).; 8(1):11. PMID: PMC30832413.
Select autism publications by Dr. Stessman
Stessman HA*, Xiong B*, Coe B, Wang T, Hoekzema K, Fenckova M, Kvarnung M, Gerdts J, Trinh S, Cosemans N, Vives L, Lin J, Turner T, Santen G, Ruivenkamp C, Kriek M, van Haeringen A, Aten E, Friend K, Liebelt J, Barnett C, Haan E, Shaw M, Gecz J, Anderlid B, Nordgren A, Lindstrand A, Schwartz C, Kooy R, Vandeweyer G, Helsmoortel C, Romano C, Alberti A, Vinci M, Avola E, Giusto S, Courchesne E, Pramparo T, Pierce K, Nalabolu S, Amaral D, Scheffer I, Delatycki M, Lockhart P, Hormozdiari F, Harich B, Castells-Nobau A, Xia K, Peeters H, Nordenskjold M, Schenck A, Bernier R, Eichler E (2017). Targeted sequencing identifies 91 neurodevelopmental disorder risk genes with autism and developmental-disability biases. *Authors contributed equally. Nat Genet; Epub ahead of print. PMID: PMC28191889.
Cantsilieris S, Stessman HA, Shendure J, Eichler E (2017). Targeted capture and high-throughput sequencing using molecular inversion probes (MIPs). Methods Mol Biol; 1492: 95-106. PMCID: PMC27822858.
Wang T*, Guo H*, Xiong B*, Stessman HA*, Wu H, Coe B, Turner T, Liu Y, Zhao W, Hoekzema K, Vives L, Xia L, Tang M, Ou J, Chen B, Shen Y, Xun G, Long M, Lin J, Kronenberg Z, Peng Y, Bai T, Li H, Ke X, Hu Z, Zou X, Zhao J, Zou X, Xia KΨ, Eichler EΨ (2016). De novo genic mutations among a Chinese autism spectrum disorder cohort. *Authors contributed equally; ΨDenotes co-senior authorship. Nat Commun; 7:13316. PMCID: PMC27824329.
Stessman HA*, Willemsen M*, Fenckova M, Penn O, Hoischen A, Xiong B, Wang T, Hoekzema K, Vives L, Vogel I, Brunner H, van der Burgt I, Ockeloen C, Schuurs-Hoeijmakers J, Wassink-Ruiter J, Stumpel C, Stevens S, Vles J, Marcelis C, van Bokhoven H, Cantagrel V, Colleaux L, Nicouleau M, Lyonnet S, Bernier R, Gerdts J, Coe B, Romano C, Alberti A, Grillo L, Scuderi C, Nordenskjöld M, Kvarnung M, Guo H, Xia K, Piton A, Gerard B, Genevieve D, Delobel B, Lehalle D, Perrin L, Prieur F, Thevenon J, Gecz J, Shaw M, Pfundt R, Keren B, Jacquette A, Schenck A, Eichler EΨ, Kleefstra TΨ (2016). Disruption of POGZ is associated with intellectual disability and autism spectrum disorders. *Authors contributed equally; ΨDenotes co-senior authorship. Am J Hum Genet; 98(3): 541-52. PMCID: PMC26942287.
Stessman HA, Turner T, Eichler E (2016). Molecular subtyping and improved treatment of neurodevelopmental disease. Genome Med; 8(1): 22. PMCID: PMC26917491.
Bernier R*, Golzio C*, Xiong B*, Stessman HA*, Coe BP*, Penn O, Witherspoon K, Gerdts J, Baker C, Vulto-van Silfhout AT, Schuurs-Hoeijmakers JH, Fichera M, Bosco P, Buono S, Alberti A, Failla P, Peeters H, Steyaert J, Vissers LE, Francescatto L, Mefford HC, Rosenfeld JA, Bakken T, O'Roak BJ, Pawlus M, Moon R, Shendure J, Amaral DG, Lein E, Rankin J, Romano C, de Vries BB, Katsanis N, Eichler EE (2014). Disruptive CHD8 mutations define a subtype of autism early in development. Cell; 158(2): 263–76. *Authors contributed equally. PMCID: PMC24998929.
Stessman HA, Bernier R, Eichler EE. (2014). A genotype-first approach to defining the subtypes of a complex disease. Cell 156(5):872–7. PMCID: PMC24581488.
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Sheppard SE, Bryant L, Wickramasekara RN, Vaccaro C, Robertson B, Hallgren J, Hulen J, Watson CJ, Faundes V, Duffourd Y, Lee P, Simon MC, de la Cruz X, Padilla N, Flores-Mendez M, Akizu N, Smiler J, Pellegrino Da Silva R, Li D, March M, Diaz-Rosado A, Peixoto de Barcelos I, Choa ZX, Lim CY, Dubourg C, Journel H, Demurger F, Mulhern M, Akman C, Lippa N, Andrews M, Baldridge D, Constantino J, van Haeringen A, Snoeck-Streef I, Chow P, Hing A, Graham JM Jr, Au M, Faivre L, Shen W, Mao R, Palumbos J, Viskochil D, Gahl W, Tifft C, Macnamara E, Hauser N, Miller R, Maffeo J, Afenjar A, Doummar D, Keren B, Arn P, Macklin-Mantia S, Meerschaut I, Callewaert B, Reis A, Zweier C, Brewer C, Saggar A, Smeland MF, Kumar A, Elmslie F, Deshpande C, Nizon M, Cogne B, van Ierland Y, Wilke M, van Slegtenhorst M, Koudijs S, Chen JY, Dredge D, Pier D, Wortmann S, Kamsteeg EJ, Koch J, Haynes D, Pollack L, Titheradge H, Ranguin K, Denommé-Pichon AS, Weber S, Pérez de la Fuente R, Sánchez Del Pozo J, Lezana Rosales JM, Joset P, Steindl K, Rauch A, Mei D, Mari F, Guerrini R, Lespinasse J, Tran Mau-Them F, Philippe C, Dauriat B, Raymond L, Moutton S, Cueto-González AM, Tan TY, Mignot C, Grotto S, Renaldo F, Drivas TG, Hennessy L, Raper A, Parenti I, Kaiser FJ, Kuechler A, Busk ØL, Islam L, Siedlik JA, Henderson LB, Juusola J, Person R, Schnur RE, Vitobello A, Banka S, Bhoj EJ*, Stessman HAF*. Sci Adv. 2023 Mar 10;9(10):eade1463. doi: 10.1126/sciadv.ade1463. Epub 2023 Mar 10. PMID: 36897941.
KMT5B is required for early motor development. Hulen J, Kenny D, Black R, Hallgren J, Hammond KG, Bredahl EC, Wickramasekara RN, Abel PW, Stessman HAF*. Front Genet. 2022 Aug 12;13:901228. doi: 10.3389/fgene.2022.901228. eCollection 2022. PMID: 36035149.
Differential effects by sex with Kmt5b loss. Wickramasekara RN, Robertson B, Hulen J, Hallgren J, Stessman HAF*. Autism Res. 2021 Aug;14(8):1554-1571. doi: 10.1002/aur.2516. Epub 2021 Apr 19. PMID: 33871180.
Wickramasekara RN, Stessman HAF (2019). Histone 4 Lysine 20 Methylation: A Case for Neurodevelopmental Disease. Biology (Basel).; 8(1):11. PMID: PMC30832413.
Select autism publications by Dr. Stessman
Stessman HA*, Xiong B*, Coe B, Wang T, Hoekzema K, Fenckova M, Kvarnung M, Gerdts J, Trinh S, Cosemans N, Vives L, Lin J, Turner T, Santen G, Ruivenkamp C, Kriek M, van Haeringen A, Aten E, Friend K, Liebelt J, Barnett C, Haan E, Shaw M, Gecz J, Anderlid B, Nordgren A, Lindstrand A, Schwartz C, Kooy R, Vandeweyer G, Helsmoortel C, Romano C, Alberti A, Vinci M, Avola E, Giusto S, Courchesne E, Pramparo T, Pierce K, Nalabolu S, Amaral D, Scheffer I, Delatycki M, Lockhart P, Hormozdiari F, Harich B, Castells-Nobau A, Xia K, Peeters H, Nordenskjold M, Schenck A, Bernier R, Eichler E (2017). Targeted sequencing identifies 91 neurodevelopmental disorder risk genes with autism and developmental-disability biases. *Authors contributed equally. Nat Genet; Epub ahead of print. PMID: PMC28191889.
Cantsilieris S, Stessman HA, Shendure J, Eichler E (2017). Targeted capture and high-throughput sequencing using molecular inversion probes (MIPs). Methods Mol Biol; 1492: 95-106. PMCID: PMC27822858.
Wang T*, Guo H*, Xiong B*, Stessman HA*, Wu H, Coe B, Turner T, Liu Y, Zhao W, Hoekzema K, Vives L, Xia L, Tang M, Ou J, Chen B, Shen Y, Xun G, Long M, Lin J, Kronenberg Z, Peng Y, Bai T, Li H, Ke X, Hu Z, Zou X, Zhao J, Zou X, Xia KΨ, Eichler EΨ (2016). De novo genic mutations among a Chinese autism spectrum disorder cohort. *Authors contributed equally; ΨDenotes co-senior authorship. Nat Commun; 7:13316. PMCID: PMC27824329.
Stessman HA*, Willemsen M*, Fenckova M, Penn O, Hoischen A, Xiong B, Wang T, Hoekzema K, Vives L, Vogel I, Brunner H, van der Burgt I, Ockeloen C, Schuurs-Hoeijmakers J, Wassink-Ruiter J, Stumpel C, Stevens S, Vles J, Marcelis C, van Bokhoven H, Cantagrel V, Colleaux L, Nicouleau M, Lyonnet S, Bernier R, Gerdts J, Coe B, Romano C, Alberti A, Grillo L, Scuderi C, Nordenskjöld M, Kvarnung M, Guo H, Xia K, Piton A, Gerard B, Genevieve D, Delobel B, Lehalle D, Perrin L, Prieur F, Thevenon J, Gecz J, Shaw M, Pfundt R, Keren B, Jacquette A, Schenck A, Eichler EΨ, Kleefstra TΨ (2016). Disruption of POGZ is associated with intellectual disability and autism spectrum disorders. *Authors contributed equally; ΨDenotes co-senior authorship. Am J Hum Genet; 98(3): 541-52. PMCID: PMC26942287.
Stessman HA, Turner T, Eichler E (2016). Molecular subtyping and improved treatment of neurodevelopmental disease. Genome Med; 8(1): 22. PMCID: PMC26917491.
Bernier R*, Golzio C*, Xiong B*, Stessman HA*, Coe BP*, Penn O, Witherspoon K, Gerdts J, Baker C, Vulto-van Silfhout AT, Schuurs-Hoeijmakers JH, Fichera M, Bosco P, Buono S, Alberti A, Failla P, Peeters H, Steyaert J, Vissers LE, Francescatto L, Mefford HC, Rosenfeld JA, Bakken T, O'Roak BJ, Pawlus M, Moon R, Shendure J, Amaral DG, Lein E, Rankin J, Romano C, de Vries BB, Katsanis N, Eichler EE (2014). Disruptive CHD8 mutations define a subtype of autism early in development. Cell; 158(2): 263–76. *Authors contributed equally. PMCID: PMC24998929.
Stessman HA, Bernier R, Eichler EE. (2014). A genotype-first approach to defining the subtypes of a complex disease. Cell 156(5):872–7. PMCID: PMC24581488.