Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.

Sarah E Sheppard; Laura Bryant; Rochelle N Wickramasekara; Courtney Vaccaro; Brynn Robertson; Jodi Hallgren; Jason Hulen; Cynthia J Watson; Victor Faundes; Yannis Duffourd; Pearl Lee; M Celeste Simon; Xavier de la Cruz; Natália Padilla; Marco Flores-Mendez; Naiara Akizu; Jacqueline Smiler; Renata Pellegrino Da Silva; Dong Li; Michael March; Abdias Diaz-Rosado; Isabella Peixoto de Barcelos; Zhao Xiang Choa; Chin Yan Lim; Christèle Dubourg; Hubert Journel; Florence Demurger; Maureen Mulhern; Cigdem Akman; Natalie Lippa; Marisa Andrews; Dustin Baldridge; John Constantino; Arie van Haeringen; Irina Snoeck-Streef; Penny Chow; Anne Hing; John M Graham; Margaret Au; Laurence Faivre; Wei Shen; Rong Mao; Janice Palumbos; David Viskochil; William Gahl; Cynthia Tifft; Ellen Macnamara; Natalie Hauser; Rebecca Miller; Jessica Maffeo; Alexandra Afenjar; Diane Doummar; Boris Keren; Pamela Arn; Sarah Macklin-Mantia; Ilse Meerschaut; Bert Callewaert; André Reis; Christiane Zweier; Carole Brewer; Anand Saggar; Marie F Smeland; Ajith Kumar; Frances Elmslie; Charu Deshpande; Mathilde Nizon; Benjamin Cogne; Yvette van Ierland; Martina Wilke; Marjon van Slegtenhorst; Suzanne Koudijs; Jin Yun Chen; David Dredge; Danielle Pier; Saskia Wortmann; Erik-Jan Kamsteeg; Johannes Koch; Devon Haynes; Lynda Pollack; Hannah Titheradge; Kara Ranguin; Anne-Sophie Denommé-Pichon; Sacha Weber; Rubén Pérez de la Fuente; Jaime Sánchez Del Pozo; Jose Miguel Lezana Rosales; Pascal Joset; Katharina Steindl; Anita Rauch; Davide Mei; Francesco Mari; Renzo Guerrini; James Lespinasse; Frédéric Tran Mau-Them; Christophe Philippe; Benjamin Dauriat; Laure Raymond; Sébastien Moutton; Anna M Cueto-González; Tiong Yang Tan; Cyril Mignot; Sarah Grotto; Florence Renaldo; Theodore G Drivas; Laura Hennessy; Anna Raper; Ilaria Parenti; Frank J Kaiser; Alma Kuechler; Øyvind L Busk; Lily Islam; Jacob A Siedlik; Lindsay B Henderson; Jane Juusola; Richard Person; Rhonda E Schnur; Antonio Vitobello; Siddharth Banka; Elizabeth J Bhoj; Holly A F Stessman

doi:10.1126/sciadv.ade1463

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.

Sarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara, Courtney Vaccaro, Brynn Robertson, Jodi Hallgren, Jason Hulen, Cynthia J Watson, Victor Faundes, Yannis Duffourd, Pearl Lee, M Celeste Simon, Xavier de la Cruz, Natália Padilla, Marco Flores-Mendez, Naiara Akizu, Jacqueline Smiler, Renata Pellegrino Da Silva, Dong Li, Michael MarchAbdias Diaz-Rosado, Isabella Peixoto de Barcelos, Zhao Xiang Choa, Chin Yan Lim, Christèle Dubourg, Hubert Journel, Florence Demurger, Maureen Mulhern, Cigdem Akman, Natalie Lippa, Marisa Andrews, Dustin Baldridge, John Constantino, Arie van Haeringen, Irina Snoeck-Streef, Penny Chow, Anne Hing, John M Graham, Margaret Au, Laurence Faivre, Wei Shen, Rong Mao, Janice Palumbos, David Viskochil, William Gahl, Cynthia Tifft, Ellen Macnamara, Natalie Hauser, Rebecca Miller, Jessica Maffeo, Alexandra Afenjar, Diane Doummar, Boris Keren, Pamela Arn, Sarah Macklin-Mantia, Ilse Meerschaut, Bert Callewaert, André Reis, Christiane Zweier, Carole Brewer, Anand Saggar, Marie F Smeland, Ajith Kumar, Frances Elmslie, Charu Deshpande, Mathilde Nizon, Benjamin Cogne, Yvette van Ierland, Martina Wilke, Marjon van Slegtenhorst, Suzanne Koudijs, Jin Yun Chen, David Dredge, Danielle Pier, Saskia Wortmann (Co-Autor/-in), Erik-Jan Kamsteeg, Johannes Koch (Co-Autor/-in), Devon Haynes, Lynda Pollack, Hannah Titheradge, Kara Ranguin, Anne-Sophie Denommé-Pichon, Sacha Weber, Rubén Pérez de la Fuente, Jaime Sánchez Del Pozo, Jose Miguel Lezana Rosales, Pascal Joset, Katharina Steindl, Anita Rauch, Davide Mei, Francesco Mari, Renzo Guerrini, James Lespinasse, Frédéric Tran Mau-Them, Christophe Philippe, Benjamin Dauriat, Laure Raymond, Sébastien Moutton, Anna M Cueto-González, Tiong Yang Tan, Cyril Mignot, Sarah Grotto, Florence Renaldo, Theodore G Drivas, Laura Hennessy, Anna Raper, Ilaria Parenti, Frank J Kaiser, Alma Kuechler, Øyvind L Busk, Lily Islam, Jacob A Siedlik, Lindsay B Henderson, Jane Juusola, Richard Person, Rhonda E Schnur, Antonio Vitobello, Siddharth Banka, Elizabeth J Bhoj, Holly A F Stessman

Universitätsklinik für Kinder- und Jugendheilkunde

Publikation: Beitrag in Fachzeitschrift › Originalarbeit (Zeitschrift) › Begutachtung

3 Quellenangaben (Web of Science)

Originalsprache	Englisch
Seiten (von - bis)	eade1463
Fachzeitschrift	SCIENCE ADVANCES
Jahrgang	9
Ausgabenummer	10
DOIs	https://doi.org/10.1126/sciadv.ade1463
Publikationsstatus	Veröffentlicht - 2023

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10.1126/sciadv.ade1463

Dieses zitieren

Sheppard, S. E., Bryant, L., Wickramasekara, R. N., Vaccaro, C., Robertson, B., Hallgren, J., Hulen, J., Watson, C. J., Faundes, V., Duffourd, Y., Lee, P., Simon, M. C., de la Cruz, X., Padilla, N., Flores-Mendez, M., Akizu, N., Smiler, J., Pellegrino Da Silva, R., Li, D., ... Stessman, H. A. F. (2023). Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. SCIENCE ADVANCES, 9(10), eade1463. https://doi.org/10.1126/sciadv.ade1463

@article{5951ae75c4b34eceaec03c9a366f2872,

title = "Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.",

author = "Sheppard, {Sarah E} and Laura Bryant and Wickramasekara, {Rochelle N} and Courtney Vaccaro and Brynn Robertson and Jodi Hallgren and Jason Hulen and Watson, {Cynthia J} and Victor Faundes and Yannis Duffourd and Pearl Lee and Simon, {M Celeste} and {de la Cruz}, Xavier and Nat{\'a}lia Padilla and Marco Flores-Mendez and Naiara Akizu and Jacqueline Smiler and {Pellegrino Da Silva}, Renata and Dong Li and Michael March and Abdias Diaz-Rosado and {Peixoto de Barcelos}, Isabella and Choa, {Zhao Xiang} and Lim, {Chin Yan} and Christ{\`e}le Dubourg and Hubert Journel and Florence Demurger and Maureen Mulhern and Cigdem Akman and Natalie Lippa and Marisa Andrews and Dustin Baldridge and John Constantino and {van Haeringen}, Arie and Irina Snoeck-Streef and Penny Chow and Anne Hing and Graham, {John M} and Margaret Au and Laurence Faivre and Wei Shen and Rong Mao and Janice Palumbos and David Viskochil and William Gahl and Cynthia Tifft and Ellen Macnamara and Natalie Hauser and Rebecca Miller and Jessica Maffeo and Alexandra Afenjar and Diane Doummar and Boris Keren and Pamela Arn and Sarah Macklin-Mantia and Ilse Meerschaut and Bert Callewaert and Andr{\'e} Reis and Christiane Zweier and Carole Brewer and Anand Saggar and Smeland, {Marie F} and Ajith Kumar and Frances Elmslie and Charu Deshpande and Mathilde Nizon and Benjamin Cogne and {van Ierland}, Yvette and Martina Wilke and {van Slegtenhorst}, Marjon and Suzanne Koudijs and Chen, {Jin Yun} and David Dredge and Danielle Pier and Saskia Wortmann and Erik-Jan Kamsteeg and Johannes Koch and Devon Haynes and Lynda Pollack and Hannah Titheradge and Kara Ranguin and Anne-Sophie Denomm{\'e}-Pichon and Sacha Weber and {P{\'e}rez de la Fuente}, Rub{\'e}n and {S{\'a}nchez Del Pozo}, Jaime and {Lezana Rosales}, {Jose Miguel} and Pascal Joset and Katharina Steindl and Anita Rauch and Davide Mei and Francesco Mari and Renzo Guerrini and James Lespinasse and {Tran Mau-Them}, Fr{\'e}d{\'e}ric and Christophe Philippe and Benjamin Dauriat and Laure Raymond and S{\'e}bastien Moutton and Cueto-Gonz{\'a}lez, {Anna M} and Tan, {Tiong Yang} and Cyril Mignot and Sarah Grotto and Florence Renaldo and Drivas, {Theodore G} and Laura Hennessy and Anna Raper and Ilaria Parenti and Kaiser, {Frank J} and Alma Kuechler and Busk, {{\O}yvind L} and Lily Islam and Siedlik, {Jacob A} and Henderson, {Lindsay B} and Jane Juusola and Richard Person and Schnur, {Rhonda E} and Antonio Vitobello and Siddharth Banka and Bhoj, {Elizabeth J} and Stessman, {Holly A F}",

note = "Wortmann, Kamsteeg, Koch, Dredge: University Children's Hospital Salzburg, Paracelsus Medical University (PMU), Salzburg, Austria",

year = "2023",

doi = "10.1126/sciadv.ade1463",

language = "English",

volume = "9",

pages = "eade1463",

journal = "SCIENCE ADVANCES",

issn = "2375-2548",

number = "10",

}

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, 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, E-J, Koch, J, Haynes, D, Pollack, L, Titheradge, H, Ranguin, K, Denommé-Pichon, A-S, 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 2023, 'Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.', SCIENCE ADVANCES, Jg. 9, Nr. 10, S. eade1463. https://doi.org/10.1126/sciadv.ade1463

TY - JOUR

T1 - Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.

AU - Sheppard, Sarah E

AU - Bryant, Laura

AU - Wickramasekara, Rochelle N

AU - Vaccaro, Courtney

AU - Robertson, Brynn

AU - Hallgren, Jodi

AU - Hulen, Jason

AU - Watson, Cynthia J

AU - Faundes, Victor

AU - Duffourd, Yannis

AU - Lee, Pearl

AU - Simon, M Celeste

AU - de la Cruz, Xavier

AU - Padilla, Natália

AU - Flores-Mendez, Marco

AU - Akizu, Naiara

AU - Smiler, Jacqueline

AU - Pellegrino Da Silva, Renata

AU - Li, Dong

AU - March, Michael

AU - Diaz-Rosado, Abdias

AU - Peixoto de Barcelos, Isabella

AU - Choa, Zhao Xiang

AU - Lim, Chin Yan

AU - Dubourg, Christèle

AU - Journel, Hubert

AU - Demurger, Florence

AU - Mulhern, Maureen

AU - Akman, Cigdem

AU - Lippa, Natalie

AU - Andrews, Marisa

AU - Baldridge, Dustin

AU - Constantino, John

AU - van Haeringen, Arie

AU - Snoeck-Streef, Irina

AU - Chow, Penny

AU - Hing, Anne

AU - Graham, John M

AU - Au, Margaret

AU - Faivre, Laurence

AU - Shen, Wei

AU - Mao, Rong

AU - Palumbos, Janice

AU - Viskochil, David

AU - Gahl, William

AU - Tifft, Cynthia

AU - Macnamara, Ellen

AU - Hauser, Natalie

AU - Miller, Rebecca

AU - Maffeo, Jessica

AU - Afenjar, Alexandra

AU - Doummar, Diane

AU - Keren, Boris

AU - Arn, Pamela

AU - Macklin-Mantia, Sarah

AU - Meerschaut, Ilse

AU - Callewaert, Bert

AU - Reis, André

AU - Zweier, Christiane

AU - Brewer, Carole

AU - Saggar, Anand

AU - Smeland, Marie F

AU - Kumar, Ajith

AU - Elmslie, Frances

AU - Deshpande, Charu

AU - Nizon, Mathilde

AU - Cogne, Benjamin

AU - van Ierland, Yvette

AU - Wilke, Martina

AU - van Slegtenhorst, Marjon

AU - Koudijs, Suzanne

AU - Chen, Jin Yun

AU - Dredge, David

AU - Pier, Danielle

AU - Wortmann, Saskia

AU - Kamsteeg, Erik-Jan

AU - Koch, Johannes

AU - Haynes, Devon

AU - Pollack, Lynda

AU - Titheradge, Hannah

AU - Ranguin, Kara

AU - Denommé-Pichon, Anne-Sophie

AU - Weber, Sacha

AU - Pérez de la Fuente, Rubén

AU - Sánchez Del Pozo, Jaime

AU - Lezana Rosales, Jose Miguel

AU - Joset, Pascal

AU - Steindl, Katharina

AU - Rauch, Anita

AU - Mei, Davide

AU - Mari, Francesco

AU - Guerrini, Renzo

AU - Lespinasse, James

AU - Tran Mau-Them, Frédéric

AU - Philippe, Christophe

AU - Dauriat, Benjamin

AU - Raymond, Laure

AU - Moutton, Sébastien

AU - Cueto-González, Anna M

AU - Tan, Tiong Yang

AU - Mignot, Cyril

AU - Grotto, Sarah

AU - Renaldo, Florence

AU - Drivas, Theodore G

AU - Hennessy, Laura

AU - Raper, Anna

AU - Parenti, Ilaria

AU - Kaiser, Frank J

AU - Kuechler, Alma

AU - Busk, Øyvind L

AU - Islam, Lily

AU - Siedlik, Jacob A

AU - Henderson, Lindsay B

AU - Juusola, Jane

AU - Person, Richard

AU - Schnur, Rhonda E

AU - Vitobello, Antonio

AU - Banka, Siddharth

AU - Bhoj, Elizabeth J

AU - Stessman, Holly A F

N1 - Wortmann, Kamsteeg, Koch, Dredge: University Children's Hospital Salzburg, Paracelsus Medical University (PMU), Salzburg, Austria

PY - 2023

Y1 - 2023

U2 - 10.1126/sciadv.ade1463

DO - 10.1126/sciadv.ade1463

M3 - Original Article (Journal)

C2 - 36897941

SN - 2375-2548

VL - 9

SP - eade1463

JO - SCIENCE ADVANCES

JF - SCIENCE ADVANCES

IS - 10

ER -