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

Royal Devon & Exeter NHS Foundation Trust
University of Exeter
Oklahoma Medical Research Foundation
University College London
Hadassah University Medical Centre
Wayne State University
Baylor College of Medicine
St George's Hospital
Kingston University and St George’s
University Hospitals Bristol and Weston NHS Foundation Trust
NHS Grampian
Newcastle University
Texas Children's Hospital Houston
Centro de Investigación Biomédica en Red
Ikerbasque Basque Foundation for Science
Instituto de Investigación Sanitaria Biodonostia

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

Cite this

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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