Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay

S Lee; DY Chen; MS Zaki; R Maroofian; H Houlden; N Di Donato; D Abdin; H Morsy; GM Mirzaa; WB Dobyns; J McEvoy-Venneri; V Stanley; KN James; Grazia Verheijen - Mancini; Rachel Schot; T Kalayci; U Altunoglu; EG Karimiani; L Brick; M Kozenko; Y Jamshidi; MC Manzini; M Beiraghi Toosi; JG Gleeson

doi:10.1016/j.ajhg.2019.08.013

Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay

S Lee, DY Chen, MS Zaki, R Maroofian, H Houlden, N Di Donato, D Abdin, H Morsy, GM Mirzaa, WB Dobyns, J McEvoy-Venneri, V Stanley, KN James, Grazia Verheijen - Mancini, Rachel Schot, T Kalayci, U Altunoglu, EG Karimiani, L Brick, M KozenkoY Jamshidi, MC Manzini, M Beiraghi Toosi, JG Gleeson

Clinical Genetics

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

17 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	844-853
Number of pages	10
Journal	American Journal of Human Genetics
Volume	105
Issue number	4
DOIs	https://doi.org/10.1016/j.ajhg.2019.08.013
Publication status	Published - 2019

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EMC OR-01

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10.1016/j.ajhg.2019.08.013

Cite this

Lee, S., Chen, DY., Zaki, MS., Maroofian, R., Houlden, H., Di Donato, N., Abdin, D., Morsy, H., Mirzaa, GM., Dobyns, WB., McEvoy-Venneri, J., Stanley, V., James, KN., Verheijen - Mancini, G., Schot, R., Kalayci, T., Altunoglu, U., Karimiani, EG., Brick, L., ... Gleeson, JG. (2019). Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay. American Journal of Human Genetics, 105(4), 844-853. https://doi.org/10.1016/j.ajhg.2019.08.013

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title = "Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay",

author = "S Lee and DY Chen and MS Zaki and R Maroofian and H Houlden and {Di Donato}, N and D Abdin and H Morsy and GM Mirzaa and WB Dobyns and J McEvoy-Venneri and V Stanley and KN James and {Verheijen - Mancini}, Grazia and Rachel Schot and T Kalayci and U Altunoglu and EG Karimiani and L Brick and M Kozenko and Y Jamshidi and MC Manzini and {Beiraghi Toosi}, M and JG Gleeson",

year = "2019",

doi = "10.1016/j.ajhg.2019.08.013",

language = "Undefined/Unknown",

volume = "105",

pages = "844--853",

journal = "American Journal of Human Genetics",

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Lee, S, Chen, DY, Zaki, MS, Maroofian, R, Houlden, H, Di Donato, N, Abdin, D, Morsy, H, Mirzaa, GM, Dobyns, WB, McEvoy-Venneri, J, Stanley, V, James, KN, Verheijen - Mancini, G , Schot, R, Kalayci, T, Altunoglu, U, Karimiani, EG, Brick, L, Kozenko, M, Jamshidi, Y, Manzini, MC, Beiraghi Toosi, M & Gleeson, JG 2019, 'Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay', American Journal of Human Genetics, vol. 105, no. 4, pp. 844-853. https://doi.org/10.1016/j.ajhg.2019.08.013

TY - JOUR

T1 - Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay

AU - Lee, S

AU - Chen, DY

AU - Zaki, MS

AU - Maroofian, R

AU - Houlden, H

AU - Di Donato, N

AU - Abdin, D

AU - Morsy, H

AU - Mirzaa, GM

AU - Dobyns, WB

AU - McEvoy-Venneri, J

AU - Stanley, V

AU - James, KN

AU - Verheijen - Mancini, Grazia

AU - Schot, Rachel

AU - Kalayci, T

AU - Altunoglu, U

AU - Karimiani, EG

AU - Brick, L

AU - Kozenko, M

AU - Jamshidi, Y

AU - Manzini, MC

AU - Beiraghi Toosi, M

AU - Gleeson, JG

PY - 2019

Y1 - 2019

U2 - 10.1016/j.ajhg.2019.08.013

DO - 10.1016/j.ajhg.2019.08.013

M3 - Article

C2 - 31585108

SN - 0002-9297

VL - 105

SP - 844

EP - 853

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 4

ER -