KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants

J Kennedy; D Goudie; E Blair; K Chandler; S Joss; V McKay; A Green; R Armstrong; M Lees; B Kamien; B Hopper; TY Tan; P Yap; Z Stark; N Okamoto; N Miyake; N Matsumoto; E Macnamara; JL Murphy; E McCormick; H Hakonarson; MJ Falk; D Li; P Blackburn; E Klee; D Babovic-Vuksanovic; S Schelley; L Hudgins; S Kant; B Isidor; B Cogne; K Bradbury; Monique Williams; C Patel; H Heussler; C Duff-Farrier; P Lakeman; I Scurr; U Kini; M Elting; Maarten Reijnders; J Schuurs-Hoeijmakers; M Wafik; A Blomhoff; CAL Ruivenkamp; E Nibbeling; AJM Dingemans; ED Douine; SF Nelson; VA Arboleda; R Newbury-Ecob

doi:10.1038/s41436-018-0259-2

KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants

J Kennedy, D Goudie, E Blair, K Chandler, S Joss, V McKay, A Green, R Armstrong, M Lees, B Kamien, B Hopper, TY Tan, P Yap, Z Stark, N Okamoto, N Miyake, N Matsumoto, E Macnamara, JL Murphy, E McCormickH Hakonarson, MJ Falk, D Li, P Blackburn, E Klee, D Babovic-Vuksanovic, S Schelley, L Hudgins, S Kant, B Isidor, B Cogne, K Bradbury, Monique Williams, C Patel, H Heussler, C Duff-Farrier, P Lakeman, I Scurr, U Kini, M Elting, Maarten Reijnders, J Schuurs-Hoeijmakers, M Wafik, A Blomhoff, CAL Ruivenkamp, E Nibbeling, AJM Dingemans, ED Douine, SF Nelson, VA Arboleda, R Newbury-Ecob

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

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Original language	Undefined/Unknown
Pages (from-to)	850-860
Number of pages	11
Journal	Genetics in Medicine
Volume	21
Issue number	4
DOIs	https://doi.org/10.1038/s41436-018-0259-2
Publication status	Published - 2019

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Kennedy, J., Goudie, D., Blair, E., Chandler, K., Joss, S., McKay, V., Green, A., Armstrong, R., Lees, M., Kamien, B., Hopper, B., Tan, TY., Yap, P., Stark, Z., Okamoto, N., Miyake, N., Matsumoto, N., Macnamara, E., Murphy, JL., ... Newbury-Ecob, R. (2019). KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants. Genetics in Medicine, 21(4), 850-860. https://doi.org/10.1038/s41436-018-0259-2

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title = "KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants",

author = "J Kennedy and D Goudie and E Blair and K Chandler and S Joss and V McKay and A Green and R Armstrong and M Lees and B Kamien and B Hopper and TY Tan and P Yap and Z Stark and N Okamoto and N Miyake and N Matsumoto and E Macnamara and JL Murphy and E McCormick and H Hakonarson and MJ Falk and D Li and P Blackburn and E Klee and D Babovic-Vuksanovic and S Schelley and L Hudgins and S Kant and B Isidor and B Cogne and K Bradbury and Monique Williams and C Patel and H Heussler and C Duff-Farrier and P Lakeman and I Scurr and U Kini and M Elting and Maarten Reijnders and J Schuurs-Hoeijmakers and M Wafik and A Blomhoff and CAL Ruivenkamp and E Nibbeling and AJM Dingemans and ED Douine and SF Nelson and VA Arboleda and R Newbury-Ecob",

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Kennedy, J, Goudie, D, Blair, E, Chandler, K, Joss, S, McKay, V, Green, A, Armstrong, R, Lees, M, Kamien, B, Hopper, B, Tan, TY, Yap, P, Stark, Z, Okamoto, N, Miyake, N, Matsumoto, N, Macnamara, E, Murphy, JL, McCormick, E, Hakonarson, H, Falk, MJ, Li, D, Blackburn, P, Klee, E, Babovic-Vuksanovic, D, Schelley, S, Hudgins, L, Kant, S, Isidor, B, Cogne, B, Bradbury, K, Williams, M, Patel, C, Heussler, H, Duff-Farrier, C, Lakeman, P, Scurr, I, Kini, U, Elting, M, Reijnders, M, Schuurs-Hoeijmakers, J, Wafik, M, Blomhoff, A, Ruivenkamp, CAL, Nibbeling, E, Dingemans, AJM, Douine, ED, Nelson, SF, Arboleda, VA & Newbury-Ecob, R 2019, 'KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants', Genetics in Medicine, vol. 21, no. 4, pp. 850-860. https://doi.org/10.1038/s41436-018-0259-2

TY - JOUR

T1 - KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants

AU - Kennedy, J

AU - Goudie, D

AU - Blair, E

AU - Chandler, K

AU - Joss, S

AU - McKay, V

AU - Green, A

AU - Armstrong, R

AU - Lees, M

AU - Kamien, B

AU - Hopper, B

AU - Tan, TY

AU - Yap, P

AU - Stark, Z

AU - Okamoto, N

AU - Miyake, N

AU - Matsumoto, N

AU - Macnamara, E

AU - Murphy, JL

AU - McCormick, E

AU - Hakonarson, H

AU - Falk, MJ

AU - Li, D

AU - Blackburn, P

AU - Klee, E

AU - Babovic-Vuksanovic, D

AU - Schelley, S

AU - Hudgins, L

AU - Kant, S

AU - Isidor, B

AU - Cogne, B

AU - Bradbury, K

AU - Williams, Monique

AU - Patel, C

AU - Heussler, H

AU - Duff-Farrier, C

AU - Lakeman, P

AU - Scurr, I

AU - Kini, U

AU - Elting, M

AU - Reijnders, Maarten

AU - Schuurs-Hoeijmakers, J

AU - Wafik, M

AU - Blomhoff, A

AU - Ruivenkamp, CAL

AU - Nibbeling, E

AU - Dingemans, AJM

AU - Douine, ED

AU - Nelson, SF

AU - Arboleda, VA

AU - Newbury-Ecob, R

PY - 2019

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DO - 10.1038/s41436-018-0259-2

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SP - 850

EP - 860

JO - Genetics in Medicine

JF - Genetics in Medicine

SN - 1098-3600

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