Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism

Adam C. Gunning; Klaudia Strucinska; Oreja M Muñoz; Andrew Parrish; Richard Caswell; Karen L. Stals; Romina Durigon; Karina Durlacher-Betzer; Mitchell H. Cunningham; Christopher M. Grochowski; Julia Baptista; Carolyn Tysoe; Emma Baple; Nayana Lahiri; Tessa Homfray; Ingrid Scurr; Catherine Armstrong; John Dean; Pelayo U Fernandez; Aleck W.E. Jones; Robert W. Taylor; Vinod K. Misra; Wan Hee Yoon; Caroline F. Wright; James R. Lupski; Antonella Spinazzola; Tamar Harel; Ian J. Holt; Sian Ellard

doi:10.1016/j.ajhg.2020.01.007

Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism

Adam C. Gunning
, Klaudia Strucinska
, Oreja M Muñoz
, Andrew Parrish
, Richard Caswell
, Karen L. Stals
, Romina Durigon
, Karina Durlacher-Betzer
, Mitchell H. Cunningham
, Christopher M. Grochowski
, Julia Baptista
, Carolyn Tysoe
, Emma Baple
, Nayana Lahiri
, Tessa Homfray
, Ingrid Scurr
, Catherine Armstrong
, John Dean
, Pelayo U Fernandez
, Aleck W.E. Jones

Robert W. Taylor, Vinod K. Misra, Wan Hee Yoon, Caroline F. Wright, James R. Lupski, Antonella Spinazzola, Tamar Harel, Ian J. Holt, Sian Ellard^*

^*Corresponding author for this work

Peninsula Medical School

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

Original language	English
Pages (from-to)	272-279
Number of pages	0
Journal	The American Journal of Human Genetics
Volume	106
Issue number	2
DOIs	https://doi.org/10.1016/j.ajhg.2020.01.007
Publication status	Published - Feb 2020

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10.1016/j.ajhg.2020.01.007

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Gunning, A. C., Strucinska, K., Muñoz, O. M., Parrish, A., Caswell, R., Stals, K. L., Durigon, R., Durlacher-Betzer, K., Cunningham, M. H., Grochowski, C. M., Baptista, J., Tysoe, C., Baple, E., Lahiri, N., Homfray, T., Scurr, I., Armstrong, C., Dean, J., Fernandez, P. U., ... Ellard, S. (2020). Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism. The American Journal of Human Genetics, 106(2), 272-279. https://doi.org/10.1016/j.ajhg.2020.01.007

@article{fdeb708672ff4b5d9fb1fb392deaebe3,

title = "Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism",

author = "Gunning, \{Adam C.\} and Klaudia Strucinska and Mu{\~n}oz, \{Oreja M\} and Andrew Parrish and Richard Caswell and Stals, \{Karen L.\} and Romina Durigon and Karina Durlacher-Betzer and Cunningham, \{Mitchell H.\} and Grochowski, \{Christopher M.\} and Julia Baptista and Carolyn Tysoe and Emma Baple and Nayana Lahiri and Tessa Homfray and Ingrid Scurr and Catherine Armstrong and John Dean and Fernandez, \{Pelayo U\} and Jones, \{Aleck W.E.\} and Taylor, \{Robert W.\} and Misra, \{Vinod K.\} and Yoon, \{Wan Hee\} and Wright, \{Caroline F.\} and Lupski, \{James R.\} and Antonella Spinazzola and Tamar Harel and Holt, \{Ian J.\} and Sian Ellard",

year = "2020",

month = feb,

doi = "10.1016/j.ajhg.2020.01.007",

language = "English",

volume = "106",

pages = "272--279",

journal = "The American Journal of Human Genetics",

issn = "0002-9297",

publisher = "Cell Press",

number = "2",

}

Gunning, AC, Strucinska, K, Muñoz, OM, Parrish, A, Caswell, R, Stals, KL, Durigon, R, Durlacher-Betzer, K, Cunningham, MH, Grochowski, CM, Baptista, J, Tysoe, C, Baple, E, Lahiri, N, Homfray, T, Scurr, I, Armstrong, C, Dean, J, Fernandez, PU, Jones, AWE, Taylor, RW, Misra, VK, Yoon, WH, Wright, CF, Lupski, JR, Spinazzola, A, Harel, T, Holt, IJ & Ellard, S 2020, 'Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism', The American Journal of Human Genetics, vol. 106, no. 2, pp. 272-279. https://doi.org/10.1016/j.ajhg.2020.01.007

Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism. / Gunning, Adam C.; Strucinska, Klaudia; Muñoz, Oreja M et al.
In: The American Journal of Human Genetics, Vol. 106, No. 2, 02.2020, p. 272-279.

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

TY - JOUR

T1 - Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism

AU - Gunning, Adam C.

AU - Strucinska, Klaudia

AU - Muñoz, Oreja M

AU - Parrish, Andrew

AU - Caswell, Richard

AU - Stals, Karen L.

AU - Durigon, Romina

AU - Durlacher-Betzer, Karina

AU - Cunningham, Mitchell H.

AU - Grochowski, Christopher M.

AU - Baptista, Julia

AU - Tysoe, Carolyn

AU - Baple, Emma

AU - Lahiri, Nayana

AU - Homfray, Tessa

AU - Scurr, Ingrid

AU - Armstrong, Catherine

AU - Dean, John

AU - Fernandez, Pelayo U

AU - Jones, Aleck W.E.

AU - Taylor, Robert W.

AU - Misra, Vinod K.

AU - Yoon, Wan Hee

AU - Wright, Caroline F.

AU - Lupski, James R.

AU - Spinazzola, Antonella

AU - Harel, Tamar

AU - Holt, Ian J.

AU - Ellard, Sian

PY - 2020/2

Y1 - 2020/2

UR - https://pearl.plymouth.ac.uk/pms-research/1684/

U2 - 10.1016/j.ajhg.2020.01.007

DO - 10.1016/j.ajhg.2020.01.007

M3 - Article

SN - 0002-9297

VL - 106

SP - 272

EP - 279

JO - The American Journal of Human Genetics

JF - The American Journal of Human Genetics

IS - 2

ER -

Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism

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