RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability

Marcello Scala; Majid Mojarrad; Saima Riazuddin; Karlla W. Brigatti; Zineb Ammous; Julie S. Cohen; Heba Hosny; Muhammad A. Usmani; Mohsin Shahzad; Sheikh Riazuddin; Valentina Stanley; Atiye Eslahi; Richard E. Person; Hasnaa M. Elbendary; Anne M. Comi; Laura Poskitt; Vincenzo Salpietro; Queen Square Genomics; Jill A. Rosenfeld; Katie B. Williams; Dana Marafi; Fan Xia; Marta Biderman Waberski; Maha S. Zaki; Joseph Gleeson; Erik Puffenberger; Henry Houlden; Reza Maroofian

doi:10.1093/brain/awaa070

RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability

Marcello Scala, Majid Mojarrad, Saima Riazuddin, Karlla W. Brigatti, Zineb Ammous, Julie S. Cohen, Heba Hosny, Muhammad A. Usmani, Mohsin Shahzad, Sheikh Riazuddin, Valentina Stanley, Atiye Eslahi, Richard E. Person, Hasnaa M. Elbendary, Anne M. Comi, Laura Poskitt, Vincenzo Salpietro, Queen Square Genomics, Jill A. Rosenfeld, Katie B. WilliamsDana Marafi, Fan Xia, Marta Biderman Waberski, Maha S. Zaki, Joseph Gleeson, Erik Puffenberger, Henry Houlden, Reza Maroofian

Kennedy Krieger Institute

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

1 Scopus citations

Original language	English (US)
Journal	Brain
Volume	143
Issue number	3
DOIs	https://doi.org/10.1093/brain/awaa070
State	Published - Mar 1 2020

ASJC Scopus subject areas

Medicine(all)

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10.1093/brain/awaa070

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Scala, M., Mojarrad, M., Riazuddin, S., Brigatti, K. W., Ammous, Z., Cohen, J. S., Hosny, H., Usmani, M. A., Shahzad, M., Riazuddin, S., Stanley, V., Eslahi, A., Person, R. E., Elbendary, H. M., Comi, A. M., Poskitt, L., Salpietro, V., Genomics, Q. S., Rosenfeld, J. A., ... Maroofian, R. (2020). RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability. Brain, 143(3). https://doi.org/10.1093/brain/awaa070

Scala, M, Mojarrad, M, Riazuddin, S, Brigatti, KW, Ammous, Z, Cohen, JS, Hosny, H, Usmani, MA, Shahzad, M, Riazuddin, S, Stanley, V, Eslahi, A, Person, RE, Elbendary, HM, Comi, AM, Poskitt, L, Salpietro, V, Genomics, QS, Rosenfeld, JA, Williams, KB, Marafi, D, Xia, F, Waberski, MB, Zaki, MS, Gleeson, J, Puffenberger, E, Houlden, H & Maroofian, R 2020, 'RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability', Brain, vol. 143, no. 3. https://doi.org/10.1093/brain/awaa070

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title = "RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability",

author = "Marcello Scala and Majid Mojarrad and Saima Riazuddin and Brigatti, {Karlla W.} and Zineb Ammous and Cohen, {Julie S.} and Heba Hosny and Usmani, {Muhammad A.} and Mohsin Shahzad and Sheikh Riazuddin and Valentina Stanley and Atiye Eslahi and Person, {Richard E.} and Elbendary, {Hasnaa M.} and Comi, {Anne M.} and Laura Poskitt and Vincenzo Salpietro and Genomics, {Queen Square} and Rosenfeld, {Jill A.} and Williams, {Katie B.} and Dana Marafi and Fan Xia and Waberski, {Marta Biderman} and Zaki, {Maha S.} and Joseph Gleeson and Erik Puffenberger and Henry Houlden and Reza Maroofian",

note = "Funding Information: The authors would like to thank the patients' families for their support and consent to the publication of this study. This research was conducted as part of the Queen Square Genomics group at University College London, supported by the National Institute for Health Research University College London Hospitals Biomedical Research Centre. The work at University of Maryland, Baltimore, USA was supported by National Institute of Neurological Disorders and Stroke (NINDS) (R01NS107428) (to S.R.). This study was funded by the Medical Research Council (MRC) (MR/ S01165X/1, MR/S005021/1, G0601943), The National Institute for Health Research University College London Hospitals Biomedical Research Centre, Rosetree Trust, Ataxia UK, Multiple System Atrophy Trust, Brain Research UK, Sparks Great Ormond Street Hospital Charity, Muscular Dystrophy UK (MDUK), Muscular Dystrophy Association (MDA USA).",

year = "2020",

month = mar,

day = "1",

doi = "10.1093/brain/awaa070",

language = "English (US)",

volume = "143",

journal = "Brain",

issn = "0006-8950",

publisher = "Oxford University Press",

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TY - JOUR

T1 - RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability

AU - Scala, Marcello

AU - Mojarrad, Majid

AU - Riazuddin, Saima

AU - Brigatti, Karlla W.

AU - Ammous, Zineb

AU - Cohen, Julie S.

AU - Hosny, Heba

AU - Usmani, Muhammad A.

AU - Shahzad, Mohsin

AU - Riazuddin, Sheikh

AU - Stanley, Valentina

AU - Eslahi, Atiye

AU - Person, Richard E.

AU - Elbendary, Hasnaa M.

AU - Comi, Anne M.

AU - Poskitt, Laura

AU - Salpietro, Vincenzo

AU - Genomics, Queen Square

AU - Rosenfeld, Jill A.

AU - Williams, Katie B.

AU - Marafi, Dana

AU - Xia, Fan

AU - Waberski, Marta Biderman

AU - Zaki, Maha S.

AU - Gleeson, Joseph

AU - Puffenberger, Erik

AU - Houlden, Henry

AU - Maroofian, Reza

N1 - Funding Information: The authors would like to thank the patients' families for their support and consent to the publication of this study. This research was conducted as part of the Queen Square Genomics group at University College London, supported by the National Institute for Health Research University College London Hospitals Biomedical Research Centre. The work at University of Maryland, Baltimore, USA was supported by National Institute of Neurological Disorders and Stroke (NINDS) (R01NS107428) (to S.R.). This study was funded by the Medical Research Council (MRC) (MR/ S01165X/1, MR/S005021/1, G0601943), The National Institute for Health Research University College London Hospitals Biomedical Research Centre, Rosetree Trust, Ataxia UK, Multiple System Atrophy Trust, Brain Research UK, Sparks Great Ormond Street Hospital Charity, Muscular Dystrophy UK (MDUK), Muscular Dystrophy Association (MDA USA).

PY - 2020/3/1

Y1 - 2020/3/1

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U2 - 10.1093/brain/awaa070

DO - 10.1093/brain/awaa070

M3 - Letter

C2 - 32227164

AN - SCOPUS:85088885094

SN - 0006-8950

VL - 143

JO - Brain

JF - Brain

IS - 3

ER -

RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability

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