Les articles de référence sont régulièrement mis à jour par Catherine Turleau et Valérie Malan
Articles de référence
Généralités
A systematic review and pooled analysis of penetrance estimates of copy-number variants associated with neurodevelopment
Goh S, Thiyagarajan L, Dudding-Byth T, Pinese M, Kirk EP.
Genet Med. 2024 Jul 30;27(1):101227
A cross-disorder dosage sensitivity map of the human genome
Cell. 2022 Aug 4;185(16):3041-3055.e25
Mapping and Characterization of Structural Variation in 17,795 Human Genomes
Nature. 2020 Jul;583(7814):83-89 .PMID: 32460305
Genetic Variation, Comparative Genomics, and the Diagnosis of Disease
Eichler EE
N Engl J Med. 2019 Jul 4;381(1):64-74. PMID:31269367
Measuring and Estimating the Effect Sizes of Copy Number Variants on General Intelligence in Community-Based Samples
Guillaume Huguet, Catherine Schramm, Elise Douard, Lai Jiang, Aurélie Labbe, Frédérique Tihy, Géraldine Mathonnet, Sonia Nizard, Emmanuelle Lemyre, Alexandre Mathieu, Jean-Baptiste Poline, Eva Loth, Roberto Toro, Gunter Schumann, Patricia Conrod, Zdenka Pausova, Celia Greenwood, Tomas Paus, Thomas Bourgeron, Sébastien Jacquemont
JAMA Psychiatry. 2018 May; 75(5): 447–457 PMCID: PMC5875373
Paediatric genomics: diagnosing rare disease in children
Wright CF, FitzPatrick DR, Firth HV
Nat Rev Genet. 2018 May;19(5):325. PMID:29456250
Genomic disorders 20 years on-mechanisms for clinical manifestations
Harel T, Lupski JR
Clin Genet. 2018 Mar;93(3):439-449. PMID:28950406
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
Redin C, Brand H, Collins RL, Kammin T, Mitchell E, Hodge JC, Hanscom C, Pillalamarri V, Seabra CM, Abbott MA, Abdul-Rahman OA, Aberg E, Adley R, Alcaraz-Estrada SL, Alkuraya FS, An Y, Anderson MA, Antolik C, Anyane-Yeboa K, Atkin JF, Bartell T, Bernstein JA, Beyer E, Blumenthal I, Bongers EM, Brilstra EH, Brown CW, Brüggenwirth HT, Callewaert B, Chiang C, Corning K, Cox H, Cuppen E, Currall BB, Cushing T, David D, Deardorff MA, Dheedene A, D’Hooghe M, de Vries BB, Earl DL, Ferguson HL, Fisher H, FitzPatrick DR, Gerrol P, Giachino D, Glessner JT, Gliem T, Grady M, Graham BH, Griffis C, Gripp KW, Gropman AL, Hanson-Kahn A, Harris DJ, Hayden MA, Hill R, Hochstenbach R, Hoffman JD, Hopkin RJ, Hubshman MW, Innes AM, Irons M, Irving M, Jacobsen JC, Janssens S, Jewett T, Johnson JP, Jongmans MC, Kahler SG, Koolen DA, Korzelius J, Kroisel PM, Lacassie Y, Lawless W, Lemyre E, Leppig K, Levin AV, Li H, Li H, Liao EC, Lim C, Lose EJ, Lucente D, Macera MJ, Manavalan P, Mandrile G, Marcelis CL, Margolin L, Mason T, Masser-Frye D, McClellan MW, Mendoza CJ, Menten B, Middelkamp S, Mikami LR, Moe E, Mohammed S, Mononen T, Mortenson ME, Moya G, Nieuwint AW, Ordulu Z, Parkash S, Pauker SP, Pereira S, Perrin D, Phelan K, Aguilar RE, Poddighe PJ, Pregno G, Raskin S, Reis L, Rhead W, Rita D, Renkens I, Roelens F, Ruliera J, Rump P, Schilit SL, Shaheen R, Sparkes R, Spiegel E, Stevens B, Stone MR, Tagoe J, Thakuria JV, van Bon BW, van de Kamp J, van Der Burgt I, van Essen T, van Ravenswaaij-Arts CM, van Roosmalen MJ, Vergult S, Volker-Touw CM, Warburton DP, Waterman MJ, Wiley S, Wilson A, Yerena-de Vega MC, Zori RT, Levy B, Brunner HG, de Leeuw N, Kloosterman WP, Thorland EC, Morton CC, Gusella JF, Talkowski ME
Nat Genet. 2017 Jan;49(1):36-45. PMID:27841880
Rosenfeld JA, Patel A. Chromosomal Microarrays: Understanding Genetics of Neurodevelopmental Disorders and Congenital Anomalies
Rosenfeld JA, Patel A
J Pediatr Genet. 2017 Mar;6(1):42-50. PMID:28180026
Copy number variants, aneuploidies, and human disease
Martin CL, Kirkpatrick BE, Ledbetter DH
Clin Perinatol. 2015 Jun;42(2):227-42, vii. PMID:26042902
Detection of Chromosomal Aberrations in Clinical Practice: From Karyotype to Genome Sequence
Martin CL, Warburton D
Annu Rev Genomics Hum Genet. 2015;16:309-26. PMID:26077817
Microdeletion syndromes
Carvill GL, Mefford HC
Curr Opin Genet Dev. 2013 Jun;23(3):232-9. PMID:23664828
Human cytogenetics: 46 chromosomes, 46 years and counting
Trask BJ
Nat Rev Genet. 2002 Oct;3(10):769-78. PMID:12360235
Cohortes / études patients-témoins
Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents
Smajlagić D, Lavrichenko K, Berland S, Helgeland Ø, Knudsen GP, Vaudel M, Haavik J, Knappskog PM, Njølstad PR, Houge G, Johansson S
Eur J Hum Genet. 2020 Aug 10
Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity
Coe BP, Stessman HAF, Sulovari A, Geisheker MR, Bakken TE, Lake AM, Dougherty JD, Lein ES, Hormozdiari F, Bernier RA, Eichler EE
Nat Genet. 2019 Jan;51(1):106-116
Prevalence and architecture of de novo mutations in developmental disorders
Deciphering Developmental Disorders Study
Nature. 2017 Feb 23;542(7642):433-438. PMID:28135719
Large-scale discovery of novel genetic causes of developmental disorders
Deciphering Developmental Disorders Study
Nature. 2015 Mar 12;519(7542):223-8. PMID:25533962
A copy number variation map of the human genome
Zarrei M, MacDonald JR, Merico D, Scherer SW
Nat Rev Genet. 2015 Mar;16(3):172-83
Refining analyses of copy number variation identifies specific genes associated with developmental delay
Coe BP, Witherspoon K, Rosenfeld JA, van Bon BW, Vulto-van Silfhout AT, Bosco P, Friend KL, Baker C, Buono S, Vissers LE, Schuurs-Hoeijmakers JH, Hoischen A, Pfundt R, Krumm N, Carvill GL, Li D, Amaral D, Brown N, Lockhart PJ, Scheffer IE, Alberti A, Shaw M, Pettinato R, Tervo R, de Leeuw N, Reijnders MR, Torchia BS, Peeters H, O’Roak BJ, Fichera M, Hehir-Kwa JY, Shendure J, Mefford HC, Haan E, Gécz J, de Vries BB, Romano C, Eichler EE
Nat Genet. 2014 Oct;46(10):1063-71. doi: 10.1038/ng.309
Estimates of penetrance for recurrent pathogenic copy-number variations
Rosenfeld JA, Coe BP, Eichler EE, Cuckle H, Shaffer LG.
Genet Med. 2013 Jun;15(6):478-81. doi: 10.1038/gim.2012.164
A copy number variation morbidity map of developmental delay
Cooper GM, Coe BP, Girirajan S, Rosenfeld JA, Vu TH, Baker C, Williams C, Stalker H, Hamid R, Hannig V, Abdel-Hamid H, Bader P, McCracken E, Niyazov D, Leppig K, Thiese H, Hummel M, Alexander N, Gorski J, Kussmann J, Shashi V, Johnson K, Rehder C, Ballif BC, Shaffer LG, Eichler EE
Nat Genet. 2011 Aug 14;43(9):838-46. PMID:21841781
CNVs : mécanismes de formation des anomalies chromosomiques
Mechanisms underlying structural variant formation in genomic disorders.
Carvalho CM, Lupski JR
Nat Rev Genet. 2016 Apr;17(4):224-38
Mechanisms for Complex Chromosomal Insertions
Gu S, Szafranski P, Akdemir ZC, Yuan B, Cooper ML, Magriñá MA, Bacino CA, Lalani SR, Breman AM, Smith JL, Patel A, Song RH, Bi W, Cheung SW, Carvalho CM, Stankiewicz P, Lupski JR
PLoS Genet. 2016 Nov 23;12(11): e1006446. PMID:27880765
Mechanisms of Chromosome Rearrangements
Weckselblatt B, Rudd MK
Trends Genet. 2015 Oct;31(10):587-599. PMID:26209074
Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints
Newman S, Hermetz KE, Weckselblatt B, Rudd MK
Am J Hum Genet. 2015 Feb 5;96(2):208-20. PMID:25640679
Gene duplication: a drive for phenotypic diversity and cause of human disease
Conrad B, Antonarakis SE
Annu Rev Genomics Hum Genet. 2007;8:17-35.PMID:17386002
Modèle oligogénique / hérédité complexe / Variabilité phénotypique et pénétrance incomplète
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants
Pizzo L, Jensen M, Polyak A, Rosenfeld JA, Mannik K, Krishnan A, McCready E, Pichon O, Le Caignec C, Van Dijck A, Pope K, Voorhoeve E, Yoon J, Stankiewicz P, Cheung SW, Pazuchanics D, Huber E, Kumar V, Kember RL, Mari F, Curró A, Castiglia L, Galesi O, Avola E, Mattina T, Fichera M, Mandarà L, Vincent M, Nizon M, Mercier S, Bénéteau C, Blesson S, Martin-Coignard D, Mosca-Boidron AL, Caberg JH, Bucan M, Zeesman S, Nowaczyk MJM, Lefebvre M, Faivre L, Callier P, Skinner C, Keren B, Perrine C, Prontera P, Marle N, Renieri A, Reymond A, Kooy RF, Isidor B, Schwartz C, Romano C, Sistermans E, Amor DJ, Andrieux J, Girirajan S
Genet Med. 2019 Apr;21(4):816-825
The variome concept: focus on CNVariome
Iourov IY, Vorsanova SG, Yurov YB
Mol Cytogenet. 2019 Dec 19;12:52
Phenotypic expansion illuminates multilocus pathogenic variation
Karaca E, Posey JE, Coban Akdemir Z, Pehlivan D, Harel T, Jhangiani SN, Bayram Y, Song X, Bahrambeigi V, Yuregir OO, Bozdogan S, Yesil G, Isikay S, Muzny D, Gibbs RA, Lupski JR
Genet Med. 2018 Dec;20(12):1528-1537. PMID:29790871
Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation
Posey JE, Harel T, Liu P, Rosenfeld JA, James RA, Coban Akdemir ZH, Walkiewicz M, Bi W, Xiao R, Ding Y, Xia F, Beaudet AL, Muzny DM, Gibbs RA, Boerwinkle E, Eng CM, Sutton VR, Shaw CA, Plon SE, Yang Y, Lupski JR
N Engl J Med. 2017 Jan 5;376(1):21-31. PMID:27959697
Shift happens: family background influences clinical variability in genetic neurodevelopmental disorders
Finucane B, Challman TD, Martin CL, Ledbetter DH
Genet Med. 2016 Apr;18(4):302-4. PMID:26158229
Phenotypic heterogeneity of genomic disorders and rare copy-number variants
Girirajan S, Rosenfeld JA, Coe BP, Parikh S, Friedman N, Goldstein A, Filipink RA, McConnell JS, Angle B, Meschino WS, Nezarati MM, Asamoah A, Jackson KE, Gowans GC, Martin JA, Carmany EP, Stockton DW, Schnur RE, Penney LS, Martin DM, Raskin S, Leppig K, Thiese H, Smith R, Aberg E, Niyazov DM, Escobar LF, El-Khechen D, Johnson KD, Lebel RR, Siefkas K, Ball S, Shur N, McGuire M, Brasington CK, Spence JE, Martin LS, Clericuzio C, Ballif BC, Shaffer LG, Eichler EE
N Engl J Med. 2012 Oct 4;367(14):1321-31
Finding the missing heritability of complex diseases
Manolio TA, Collins FS, Cox NJ, Goldstein DB, Hindorff LA, Hunter DJ, McCarthy MI, Ramos EM, Cardon LR, Chakravarti A, Cho JH, Guttmacher AE, Kong A, Kruglyak L, Mardis E, Rotimi CN, Slatkin M, Valle D, Whittemore AS, Boehnke M, Clark AG, Eichler EE, Gibson G, Haines JL, Mackay TF, McCarroll SA, Visscher PM
Nature. 2009 Oct 8;461(7265):747-53
Régulation de l'expression génique
Highly rearranged chromosomes reveal uncoupling between genome topology and gene expression
Ghavi-Helm Y, Jankowski A, Meiers S, Viales RR, Korbel JO, Furlong EEM
Nat Genet. 2019 Aug;51(8):1272-1282. PMID:31308546