Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects

Y.J. Zhao; A. Diacou; H.R. Johnston; F.I. Musfee; D.M. McDonald-McGinn; D. McGinn; T.B. Crowley; G.M. Repetto; A. Swillen; J. Breckpot; J.R. Vermeesch; W.R. Kates; M.C. Digilio; M. Unolt; B. Marino; M. Pontillo; M. Armando; F. Di Fabio; S. Vicari; M. van den Bree; H. Moss; M.J. Owen; K.C. Murphy; C.M. Murphy; D. Murphy; K. Schoch; V. Shashi; F. Tassone; T.J. Simon; R.J. Shprintzen; L. Campbell; N. Philip; D. Heine-Suner; S. Garcia-Minaur; L. Fernandez; C.E. Bearden; C. Vingerhoets; T. van Amelsvoort; S. Eliez; M. Schneider; J.A.S. Vorstman; D. Gothelf; E. Zackai; A.J. Agopian; R.E. Gur; A.S. Bassett; B.S. Emanuel; E. Goldmuntz; L.E. Mitchell; T. Wang; International 22q11.2 Brain and Behavior Consortium

doi:10.1016/j.ajhg.2019.11.010

Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects

Y.J. Zhao, A. Diacou, H.R. Johnston, F.I. Musfee, D.M. McDonald-McGinn, D. McGinn, T.B. Crowley, G.M. Repetto, A. Swillen, J. Breckpot, J.R. Vermeesch, W.R. Kates, M.C. Digilio, M. Unolt, B. Marino, M. Pontillo, M. Armando, F. Di Fabio, S. Vicari, M. van den BreeH. Moss, M.J. Owen, K.C. Murphy, C.M. Murphy, D. Murphy, K. Schoch, V. Shashi, F. Tassone, T.J. Simon, R.J. Shprintzen, L. Campbell, N. Philip, D. Heine-Suner, S. Garcia-Minaur, L. Fernandez, C.E. Bearden, C. Vingerhoets, T. van Amelsvoort, S. Eliez, M. Schneider, J.A.S. Vorstman, D. Gothelf, E. Zackai, A.J. Agopian, R.E. Gur, A.S. Bassett, B.S. Emanuel, E. Goldmuntz, L.E. Mitchell, T. Wang, International 22q11.2 Brain and Behavior Consortium

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

17 Citations (Web of Science)

Original language	English
Pages (from-to)	26-40
Number of pages	15
Journal	American Journal of Human Genetics
Volume	106
Issue number	1
DOIs	https://doi.org/10.1016/j.ajhg.2019.11.010
Publication status	Published - 2 Jan 2020

Keywords

association
cardio-facial syndrome
crkl
ii deficiency
low-copy repeats
molecular definition
prediction
prevalence
tbx1 haploinsufficiency
variants
LOW-COPY REPEATS
VARIANTS
II DEFICIENCY
PREVALENCE
MOLECULAR DEFINITION
CRKL
PREDICTION
TBX1 HAPLOINSUFFICIENCY
ASSOCIATION
CARDIO-FACIAL SYNDROME

Access to Document

10.1016/j.ajhg.2019.11.010

Cite this

Zhao, Y. J., Diacou, A., Johnston, H. R., Musfee, F. I., McDonald-McGinn, D. M., McGinn, D., Crowley, T. B., Repetto, G. M., Swillen, A., Breckpot, J., Vermeesch, J. R., Kates, W. R., Digilio, M. C., Unolt, M., Marino, B., Pontillo, M., Armando, M., Di Fabio, F., Vicari, S., ... International 22q11.2 Brain and Behavior Consortium (2020). Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects. American Journal of Human Genetics, 106(1), 26-40. https://doi.org/10.1016/j.ajhg.2019.11.010

Zhao, Y.J. ; Diacou, A. ; Johnston, H.R. ; Musfee, F.I. ; McDonald-McGinn, D.M. ; McGinn, D. ; Crowley, T.B. ; Repetto, G.M. ; Swillen, A. ; Breckpot, J. ; Vermeesch, J.R. ; Kates, W.R. ; Digilio, M.C. ; Unolt, M. ; Marino, B. ; Pontillo, M. ; Armando, M. ; Di Fabio, F. ; Vicari, S. ; van den Bree, M. ; Moss, H. ; Owen, M.J. ; Murphy, K.C. ; Murphy, C.M. ; Murphy, D. ; Schoch, K. ; Shashi, V. ; Tassone, F. ; Simon, T.J. ; Shprintzen, R.J. ; Campbell, L. ; Philip, N. ; Heine-Suner, D. ; Garcia-Minaur, S. ; Fernandez, L. ; Bearden, C.E. ; Vingerhoets, C. ; van Amelsvoort, T. ; Eliez, S. ; Schneider, M. ; Vorstman, J.A.S. ; Gothelf, D. ; Zackai, E. ; Agopian, A.J. ; Gur, R.E. ; Bassett, A.S. ; Emanuel, B.S. ; Goldmuntz, E. ; Mitchell, L.E. ; Wang, T. ; International 22q11.2 Brain and Behavior Consortium. / Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects. In: American Journal of Human Genetics. 2020 ; Vol. 106, No. 1. pp. 26-40.

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title = "Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects",

keywords = "association, cardio-facial syndrome, crkl, ii deficiency, low-copy repeats, molecular definition, prediction, prevalence, tbx1 haploinsufficiency, variants, LOW-COPY REPEATS, VARIANTS, II DEFICIENCY, PREVALENCE, MOLECULAR DEFINITION, CRKL, PREDICTION, TBX1 HAPLOINSUFFICIENCY, ASSOCIATION, CARDIO-FACIAL SYNDROME",

author = "Y.J. Zhao and A. Diacou and H.R. Johnston and F.I. Musfee and D.M. McDonald-McGinn and D. McGinn and T.B. Crowley and G.M. Repetto and A. Swillen and J. Breckpot and J.R. Vermeesch and W.R. Kates and M.C. Digilio and M. Unolt and B. Marino and M. Pontillo and M. Armando and {Di Fabio}, F. and S. Vicari and {van den Bree}, M. and H. Moss and M.J. Owen and K.C. Murphy and C.M. Murphy and D. Murphy and K. Schoch and V. Shashi and F. Tassone and T.J. Simon and R.J. Shprintzen and L. Campbell and N. Philip and D. Heine-Suner and S. Garcia-Minaur and L. Fernandez and C.E. Bearden and C. Vingerhoets and {van Amelsvoort}, T. and S. Eliez and M. Schneider and J.A.S. Vorstman and D. Gothelf and E. Zackai and A.J. Agopian and R.E. Gur and A.S. Bassett and B.S. Emanuel and E. Goldmuntz and L.E. Mitchell and T. Wang and {International 22q11.2 Brain and Behavior Consortium}",

year = "2020",

month = jan,

day = "2",

doi = "10.1016/j.ajhg.2019.11.010",

language = "English",

volume = "106",

pages = "26--40",

journal = "American Journal of Human Genetics",

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publisher = "Cell Press",

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Zhao, YJ, Diacou, A, Johnston, HR, Musfee, FI, McDonald-McGinn, DM, McGinn, D, Crowley, TB, Repetto, GM, Swillen, A, Breckpot, J, Vermeesch, JR, Kates, WR, Digilio, MC, Unolt, M, Marino, B, Pontillo, M, Armando, M, Di Fabio, F, Vicari, S, van den Bree, M, Moss, H, Owen, MJ, Murphy, KC, Murphy, CM, Murphy, D, Schoch, K, Shashi, V, Tassone, F, Simon, TJ, Shprintzen, RJ, Campbell, L, Philip, N, Heine-Suner, D, Garcia-Minaur, S, Fernandez, L, Bearden, CE, Vingerhoets, C , van Amelsvoort, T, Eliez, S, Schneider, M, Vorstman, JAS, Gothelf, D, Zackai, E, Agopian, AJ, Gur, RE, Bassett, AS, Emanuel, BS, Goldmuntz, E, Mitchell, LE, Wang, T & International 22q11.2 Brain and Behavior Consortium 2020, 'Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects', American Journal of Human Genetics, vol. 106, no. 1, pp. 26-40. https://doi.org/10.1016/j.ajhg.2019.11.010

Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects. / Zhao, Y.J.; Diacou, A.; Johnston, H.R.; Musfee, F.I.; McDonald-McGinn, D.M.; McGinn, D.; Crowley, T.B.; Repetto, G.M.; Swillen, A.; Breckpot, J.; Vermeesch, J.R.; Kates, W.R.; Digilio, M.C.; Unolt, M.; Marino, B.; Pontillo, M.; Armando, M.; Di Fabio, F.; Vicari, S.; van den Bree, M.; Moss, H.; Owen, M.J.; Murphy, K.C.; Murphy, C.M.; Murphy, D.; Schoch, K.; Shashi, V.; Tassone, F.; Simon, T.J.; Shprintzen, R.J.; Campbell, L.; Philip, N.; Heine-Suner, D.; Garcia-Minaur, S.; Fernandez, L.; Bearden, C.E.; Vingerhoets, C.; van Amelsvoort, T.; Eliez, S.; Schneider, M.; Vorstman, J.A.S.; Gothelf, D.; Zackai, E.; Agopian, A.J.; Gur, R.E.; Bassett, A.S.; Emanuel, B.S.; Goldmuntz, E.; Mitchell, L.E.; Wang, T.; International 22q11.2 Brain and Behavior Consortium.

In: American Journal of Human Genetics, Vol. 106, No. 1, 02.01.2020, p. 26-40.

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

TY - JOUR

T1 - Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects

AU - Zhao, Y.J.

AU - Diacou, A.

AU - Johnston, H.R.

AU - Musfee, F.I.

AU - McDonald-McGinn, D.M.

AU - McGinn, D.

AU - Crowley, T.B.

AU - Repetto, G.M.

AU - Swillen, A.

AU - Breckpot, J.

AU - Vermeesch, J.R.

AU - Kates, W.R.

AU - Digilio, M.C.

AU - Unolt, M.

AU - Marino, B.

AU - Pontillo, M.

AU - Armando, M.

AU - Di Fabio, F.

AU - Vicari, S.

AU - van den Bree, M.

AU - Moss, H.

AU - Owen, M.J.

AU - Murphy, K.C.

AU - Murphy, C.M.

AU - Murphy, D.

AU - Schoch, K.

AU - Shashi, V.

AU - Tassone, F.

AU - Simon, T.J.

AU - Shprintzen, R.J.

AU - Campbell, L.

AU - Philip, N.

AU - Heine-Suner, D.

AU - Garcia-Minaur, S.

AU - Fernandez, L.

AU - Bearden, C.E.

AU - Vingerhoets, C.

AU - van Amelsvoort, T.

AU - Eliez, S.

AU - Schneider, M.

AU - Vorstman, J.A.S.

AU - Gothelf, D.

AU - Zackai, E.

AU - Agopian, A.J.

AU - Gur, R.E.

AU - Bassett, A.S.

AU - Emanuel, B.S.

AU - Goldmuntz, E.

AU - Mitchell, L.E.

AU - Wang, T.

AU - International 22q11.2 Brain and Behavior Consortium

PY - 2020/1/2

Y1 - 2020/1/2

KW - association

KW - cardio-facial syndrome

KW - crkl

KW - ii deficiency

KW - low-copy repeats

KW - molecular definition

KW - prediction

KW - prevalence

KW - tbx1 haploinsufficiency

KW - variants

KW - LOW-COPY REPEATS

KW - VARIANTS

KW - II DEFICIENCY

KW - PREVALENCE

KW - MOLECULAR DEFINITION

KW - CRKL

KW - PREDICTION

KW - TBX1 HAPLOINSUFFICIENCY

KW - ASSOCIATION

KW - CARDIO-FACIAL SYNDROME

U2 - 10.1016/j.ajhg.2019.11.010

DO - 10.1016/j.ajhg.2019.11.010

M3 - Article

C2 - 31870554

VL - 106

SP - 26

EP - 40

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

SN - 0002-9297

IS - 1

ER -