Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms

Megan Yabumoto; Jessica Kianmahd; Meghna Singh; Maria F. Palafox; Angela Wei; Kathryn Elliott; Dana H. Goodloe; S. Joy Dean; Catherine Gooch; Brianna K. Murray; Erin Swartz; Samantha A. Schrier Vergano; Meghan C. Towne; Kimberly Nugent; Elizabeth R. Roeder; Christina Kresge; Beth A. Pletcher; Katheryn Grand; John M. Graham; Ryan Gates; Natalia Gomez-Ospina; Subhadra Ramanathan; Robin Dawn Clark; Kimberly Glaser; Paul J. Benke; Julie S. Cohen; Ali Fatemi; Weiyi Mu; Kristin W. Baranano; Jill A. Madden; Cynthia S. Gubbels; Timothy W. Yu; Pankaj B. Agrawal; Mary Kathryn Chambers; Chanika Phornphutkul; John A. Pugh; Kate A. Tauber; Svetlana Azova; Jessica R. Smith; Anne O’Donnell-Luria; Hannah Medsker; Siddharth Srivastava; Deborah Krakow; Daniela N. Schweitzer; Valerie A. Arboleda

doi:10.1002/mgg3.1809

Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms

Megan Yabumoto, Jessica Kianmahd, Meghna Singh, Maria F. Palafox, Angela Wei, Kathryn Elliott, Dana H. Goodloe, S. Joy Dean, Catherine Gooch, Brianna K. Murray, Erin Swartz, Samantha A. Schrier Vergano, Meghan C. Towne, Kimberly Nugent, Elizabeth R. Roeder, Christina Kresge, Beth A. Pletcher, Katheryn Grand, John M. Graham, Ryan GatesNatalia Gomez-Ospina, Subhadra Ramanathan, Robin Dawn Clark, Kimberly Glaser, Paul J. Benke, Julie S. Cohen, Ali Fatemi, Weiyi Mu, Kristin W. Baranano, Jill A. Madden, Cynthia S. Gubbels, Timothy W. Yu, Pankaj B. Agrawal, Mary Kathryn Chambers, Chanika Phornphutkul, John A. Pugh, Kate A. Tauber, Svetlana Azova, Jessica R. Smith, Anne O’Donnell-Luria, Hannah Medsker, Siddharth Srivastava, Deborah Krakow, Daniela N. Schweitzer, Valerie A. Arboleda

Research output: Contribution to journal › Article › peer-review

Original language	English
Article number	e1809
Journal	Molecular Genetics and Genomic Medicine
Volume	9
Issue number	10
DOIs	https://doi.org/10.1002/mgg3.1809
State	Published - Oct 2021

ASJC Scopus Subject Areas

Molecular Biology
Genetics
Genetics(clinical)

Keywords

CRISPR
Genitopatellar syndrome
KAT6B-related disorders
Say-Barber-Biesecker-Young-Simpson syndrome
phenotypic spectrum
variable expressivity, rare genetic diagnosis

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Yabumoto, M., Kianmahd, J., Singh, M., Palafox, M. F., Wei, A., Elliott, K., Goodloe, D. H., Dean, S. J., Gooch, C., Murray, B. K., Swartz, E., Schrier Vergano, S. A., Towne, M. C., Nugent, K., Roeder, E. R., Kresge, C., Pletcher, B. A., Grand, K., Graham, J. M., ... Arboleda, V. A. (2021). Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms. Molecular Genetics and Genomic Medicine, 9(10), Article e1809. https://doi.org/10.1002/mgg3.1809

Yabumoto, M, Kianmahd, J, Singh, M, Palafox, MF, Wei, A, Elliott, K, Goodloe, DH, Dean, SJ, Gooch, C, Murray, BK, Swartz, E, Schrier Vergano, SA, Towne, MC, Nugent, K, Roeder, ER, Kresge, C, Pletcher, BA, Grand, K, Graham, JM, Gates, R, Gomez-Ospina, N, Ramanathan, S , Clark, RD, Glaser, K, Benke, PJ, Cohen, JS, Fatemi, A, Mu, W, Baranano, KW, Madden, JA, Gubbels, CS, Yu, TW, Agrawal, PB, Chambers, MK, Phornphutkul, C, Pugh, JA, Tauber, KA, Azova, S, Smith, JR, O’Donnell-Luria, A, Medsker, H, Srivastava, S, Krakow, D, Schweitzer, DN & Arboleda, VA 2021, 'Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms', Molecular Genetics and Genomic Medicine, vol. 9, no. 10, e1809. https://doi.org/10.1002/mgg3.1809

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title = "Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms",

keywords = "CRISPR, Genitopatellar syndrome, KAT6B-related disorders, Say-Barber-Biesecker-Young-Simpson syndrome, phenotypic spectrum, variable expressivity, rare genetic diagnosis",

author = "Megan Yabumoto and Jessica Kianmahd and Meghna Singh and Palafox, {Maria F.} and Angela Wei and Kathryn Elliott and Goodloe, {Dana H.} and Dean, {S. Joy} and Catherine Gooch and Murray, {Brianna K.} and Erin Swartz and {Schrier Vergano}, {Samantha A.} and Towne, {Meghan C.} and Kimberly Nugent and Roeder, {Elizabeth R.} and Christina Kresge and Pletcher, {Beth A.} and Katheryn Grand and Graham, {John M.} and Ryan Gates and Natalia Gomez-Ospina and Subhadra Ramanathan and Clark, {Robin Dawn} and Kimberly Glaser and Benke, {Paul J.} and Cohen, {Julie S.} and Ali Fatemi and Weiyi Mu and Baranano, {Kristin W.} and Madden, {Jill A.} and Gubbels, {Cynthia S.} and Yu, {Timothy W.} and Agrawal, {Pankaj B.} and Chambers, {Mary Kathryn} and Chanika Phornphutkul and Pugh, {John A.} and Tauber, {Kate A.} and Svetlana Azova and Smith, {Jessica R.} and Anne O{\textquoteright}Donnell-Luria and Hannah Medsker and Siddharth Srivastava and Deborah Krakow and Schweitzer, {Daniela N.} and Arboleda, {Valerie A.}",

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year = "2021",

month = oct,

doi = "10.1002/mgg3.1809",

language = "English",

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T1 - Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms

AU - Yabumoto, Megan

AU - Kianmahd, Jessica

AU - Singh, Meghna

AU - Palafox, Maria F.

AU - Wei, Angela

AU - Elliott, Kathryn

AU - Goodloe, Dana H.

AU - Dean, S. Joy

AU - Gooch, Catherine

AU - Murray, Brianna K.

AU - Swartz, Erin

AU - Schrier Vergano, Samantha A.

AU - Towne, Meghan C.

AU - Nugent, Kimberly

AU - Roeder, Elizabeth R.

AU - Kresge, Christina

AU - Pletcher, Beth A.

AU - Grand, Katheryn

AU - Graham, John M.

AU - Gates, Ryan

AU - Gomez-Ospina, Natalia

AU - Ramanathan, Subhadra

AU - Clark, Robin Dawn

AU - Glaser, Kimberly

AU - Benke, Paul J.

AU - Cohen, Julie S.

AU - Fatemi, Ali

AU - Mu, Weiyi

AU - Baranano, Kristin W.

AU - Madden, Jill A.

AU - Gubbels, Cynthia S.

AU - Yu, Timothy W.

AU - Agrawal, Pankaj B.

AU - Chambers, Mary Kathryn

AU - Phornphutkul, Chanika

AU - Pugh, John A.

AU - Tauber, Kate A.

AU - Azova, Svetlana

AU - Smith, Jessica R.

AU - O’Donnell-Luria, Anne

AU - Medsker, Hannah

AU - Srivastava, Siddharth

AU - Krakow, Deborah

AU - Schweitzer, Daniela N.

AU - Arboleda, Valerie A.

PY - 2021/10

Y1 - 2021/10

KW - CRISPR

KW - Genitopatellar syndrome

KW - KAT6B-related disorders

KW - Say-Barber-Biesecker-Young-Simpson syndrome

KW - phenotypic spectrum

KW - variable expressivity, rare genetic diagnosis

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SN - 2324-9269

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JO - Molecular Genetics and Genomic Medicine

JF - Molecular Genetics and Genomic Medicine

IS - 10

M1 - e1809

ER -

Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms

ASJC Scopus Subject Areas

Keywords

Access to Document

OpenUrl availability

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