MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance

WB Dobyns; KA Aldinger; G E Ishak; GM Mirzaa; AE Timms; ME Grout; Marjolein Dremmen; Rachel Schot; Laura Vandervore; Marjon van Slegtenhorst; Martina Wilke; E Kasteleijn; AS Lee; BJ Barry; KR Chao; K Szczaluba; J Kobori; A Hanson-Kahn; JA Bernstein; L Carr; F D'Arco; K Miyana; T Okazaki; Y Saito; M Sasaki; S Das; MM Wheeler; MJ Bamshad; DA Nickerson; EC Engle; Frans Verheijen; D Doherty; Grazia Verheijen - Mancini

doi:10.1016/j.ajhg.2018.10.019

MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance

WB Dobyns, KA Aldinger, G E Ishak, GM Mirzaa, AE Timms, ME Grout, Marjolein Dremmen, Rachel Schot, Laura Vandervore, Marjon van Slegtenhorst, Martina Wilke, E Kasteleijn, AS Lee, BJ Barry, KR Chao, K Szczaluba, J Kobori, A Hanson-Kahn, JA Bernstein, L CarrF D'Arco, K Miyana, T Okazaki, Y Saito, M Sasaki, S Das, MM Wheeler, MJ Bamshad, DA Nickerson, EC Engle, Frans Verheijen, D Doherty, Grazia Verheijen - Mancini

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

62 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	1009-1021
Number of pages	13
Journal	American Journal of Human Genetics
Volume	103
Issue number	6
DOIs	https://doi.org/10.1016/j.ajhg.2018.10.019
Publication status	Published - 2018

Research programs

EMC NIHES-03-30-02

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10.1016/j.ajhg.2018.10.019

http://hdl.handle.net/1765/113383

Cite this

Dobyns, WB., Aldinger, KA., Ishak, G. E., Mirzaa, GM., Timms, AE., Grout, ME., Dremmen, M., Schot, R., Vandervore, L., van Slegtenhorst, M., Wilke, M., Kasteleijn, E., Lee, AS., Barry, BJ., Chao, KR., Szczaluba, K., Kobori, J., Hanson-Kahn, A., Bernstein, JA., ... Verheijen - Mancini, G. (2018). MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance. American Journal of Human Genetics, 103(6), 1009-1021. https://doi.org/10.1016/j.ajhg.2018.10.019

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title = "MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance",

author = "WB Dobyns and KA Aldinger and Ishak, \{G E\} and GM Mirzaa and AE Timms and ME Grout and Marjolein Dremmen and Rachel Schot and Laura Vandervore and \{van Slegtenhorst\}, Marjon and Martina Wilke and E Kasteleijn and AS Lee and BJ Barry and KR Chao and K Szczaluba and J Kobori and A Hanson-Kahn and JA Bernstein and L Carr and F D'Arco and K Miyana and T Okazaki and Y Saito and M Sasaki and S Das and MM Wheeler and MJ Bamshad and DA Nickerson and EC Engle and Frans Verheijen and D Doherty and \{Verheijen - Mancini\}, Grazia",

year = "2018",

doi = "10.1016/j.ajhg.2018.10.019",

language = "Undefined/Unknown",

volume = "103",

pages = "1009--1021",

journal = "American Journal of Human Genetics",

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Dobyns, WB, Aldinger, KA, Ishak, GE, Mirzaa, GM, Timms, AE, Grout, ME, Dremmen, M , Schot, R, Vandervore, L, van Slegtenhorst, M , Wilke, M, Kasteleijn, E, Lee, AS, Barry, BJ, Chao, KR, Szczaluba, K, Kobori, J, Hanson-Kahn, A, Bernstein, JA, Carr, L, D'Arco, F, Miyana, K, Okazaki, T, Saito, Y, Sasaki, M, Das, S, Wheeler, MM, Bamshad, MJ, Nickerson, DA, Engle, EC, Verheijen, F, Doherty, D & Verheijen - Mancini, G 2018, 'MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance', American Journal of Human Genetics, vol. 103, no. 6, pp. 1009-1021. https://doi.org/10.1016/j.ajhg.2018.10.019

TY - JOUR

T1 - MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance

AU - Dobyns, WB

AU - Aldinger, KA

AU - Ishak, G E

AU - Mirzaa, GM

AU - Timms, AE

AU - Grout, ME

AU - Dremmen, Marjolein

AU - Schot, Rachel

AU - Vandervore, Laura

AU - van Slegtenhorst, Marjon

AU - Wilke, Martina

AU - Kasteleijn, E

AU - Lee, AS

AU - Barry, BJ

AU - Chao, KR

AU - Szczaluba, K

AU - Kobori, J

AU - Hanson-Kahn, A

AU - Bernstein, JA

AU - Carr, L

AU - D'Arco, F

AU - Miyana, K

AU - Okazaki, T

AU - Saito, Y

AU - Sasaki, M

AU - Das, S

AU - Wheeler, MM

AU - Bamshad, MJ

AU - Nickerson, DA

AU - Engle, EC

AU - Verheijen, Frans

AU - Doherty, D

AU - Verheijen - Mancini, Grazia

PY - 2018

Y1 - 2018

U2 - 10.1016/j.ajhg.2018.10.019

DO - 10.1016/j.ajhg.2018.10.019

M3 - Article

C2 - 30471716

SN - 0002-9297

VL - 103

SP - 1009

EP - 1021

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 6

ER -