The smallest of the small: determining size through cell number

Project Information

GrowCELL

Grant agreement ID: 788093

DOI

10.3030/788093

EC signature date 18 June 2018

Start date 1 August 2018

End date 31 January 2026

Funded under

• EXCELLENT SCIENCE - European Research Council (ERC)

Total cost

€ 2 500 000,00

EU contribution

€ 2 500 000,00

Coordinated by

THE UNIVERSITY OF EDINBURGH
United Kingdom

CORDIS provides links to public deliverables and publications of HORIZON projects.

Links to deliverables and publications from FP7 projects, as well as links to some specific result types such as dataset and software, are dynamically retrieved from OpenAIRE .

Publications

Peer reviewed articles (14)

Sonic hedgehog accelerates DNA replication to cause replication stress promoting cancer initiation in medulloblastoma

Author(s): Lukas Tamayo-Orrego, David Gallo, Frédéric Racicot, Amandine Bemmo, Sushmetha Mohan, Brandon Ho, Samer Salameh, Trang Hoang, Andrew P. Jackson, Grant W. Brown, Frédéric Charron
Published in: Nature Cancer, Issue 1/8, 2020, Page(s) 840-854, ISSN 2662-1347
Publisher: Springer Nature
DOI: 10.1038/s43018-020-0094-7

Author Correction: Sonic hedgehog accelerates DNA replication to cause replication stress promoting cancer initiation in medulloblastoma

Author(s): Lukas Tamayo-Orrego, David Gallo, Frédéric Racicot, Amandine Bemmo, Sushmetha Mohan, Brandon Ho, Samer Salameh, Trang Hoang, Andrew P. Jackson, Grant W. Brown, Frédéric Charron
Published in: Nature Cancer, Issue 2, 2022, Page(s) 575-575, ISSN 2662-1347
Publisher: Springer Nature
DOI: 10.1038/s43018-021-00205-9

Biallelic variants in DNA2 cause microcephalic primordial dwarfism

Author(s): Žygimantė Tarnauskaitė, Louise S. Bicknell, Joseph A. Marsh, Jennie E. Murray, David A. Parry, Clare V. Logan, Michael B. Bober, Deepthi C. Silva, Angela L. Duker, David Sillence, Carol Wise, Andrew P. Jackson, Olga Murina, Martin A.M. Reijns
Published in: Human Mutation, Issue 40 (8), 2019, Page(s) 1063-1070, ISSN 1059-7794
Publisher: John Wiley & Sons Inc.
DOI: 10.1002/humu.23776

Genetic Findings in Short Turkish Children Born to Consanguineous Parents

Author(s): Sjoerd D. Joustra, Emregul Isik, Jan M. Wit, Gonul Catli, Ahmet Anik, Belma Haliloglu, Nurgun Kandemir, Elif Ozsu, Yvonne M.C. Hendriks, Christiaan de Bruin, Sarina G. Kant, Angel Campos-Barros, Rachel C. Challis, David Parry, Margaret E. Harley, Andrew Jackson, Monique Losekoot, Hermine A. van Duyvenvoorde
Published in: Hormone Research in Paediatrics, 2024, Page(s) 1-11, ISSN 1663-2818
Publisher: Karger AG
DOI: 10.1159/000539696

PRIM1 deficiency causes a distinctive primordial dwarfism syndrome

Author(s): David A. Parry, Lukas Tamayo-Orrego, Paula Carroll, Joseph A. Marsh, Philip Greene, Olga Murina, Carolina Uggenti, Andrea Leitch, Rita Káposzta, Gabriella Merő, Andrea Nagy, Brigitta Orlik, Balázs Kovács-Pászthy, Alan J. Quigley, Magdolna Riszter, Julia Rankin, Martin A.M. Reijns, Katalin Szakszon, Andrew P. Jackson
Published in: Genes & Development, Issue 34/21-22, 2020, Page(s) 1520-1533, ISSN 0890-9369
Publisher: Cold Spring Harbor Laboratory Press
DOI: 10.1101/gad.340190.120

Growth in individuals with Saul–Wilson syndrome

Author(s): Carlos R. Ferreira, Timothy Niiler, Angela L. Duker, Andrew P. Jackson, Michael B. Bober
Published in: American Journal of Medical Genetics Part A, Issue 182/9, 2020, Page(s) 2110-2116, ISSN 1552-4825
Publisher: Wiley-Liss Inc
DOI: 10.1002/ajmg.a.61754

Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy

Author(s): David A. Parry, Carol-Anne Martin, Philip Greene, Joseph A. Marsh, Moira Blyth, Helen Cox, Deirdre Donnelly, Lynn Greenhalgh, Stephanie Greville-Heygate, Victoria Harrison, Katherine Lachlan, Caoimhe McKenna, Alan J. Quigley, Gillian Rea, Lisa Robertson, Mohnish Suri, Andrew P. Jackson
Published in: Genetics in Medicine, Issue 23/2, 2021, Page(s) 408-414, ISSN 1098-3600
Publisher: Lippincott Williams & Wilkins Ltd.
DOI: 10.1038/s41436-020-00980-3

Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy

Author(s): Grange LJ, Reynolds JJ, Ullah F, Isidor B, Shearer RF, Latypova X, Baxley RM, Oliver AW, Ganesh A, Cooke SL, Jhujh SS, McNee GS, Hollingworth R, Higgs MR, Natsume T, Khan T, Martos-Moreno GÁ, Chupp S, Mathew CG, Parry D, Simpson MA, Nahavandi N, Yüksel Z, Drasdo M, Kron A, Vogt P, Jonasson A, Seth SA, Gonzaga-Jauregui C, Brigatti KW, Stegmann APA, Kanemaki M, Josifova D, Uchiyama Y, Oh Y, Morimo
Published in: Nature Communications, Issue 13(1), 2022, Page(s) 6664, ISSN 2041-1723
Publisher: Nature Publishing Group
DOI: 10.1038/s41467-022-34349-8

Defining the clinical phenotype of Saul–Wilson syndrome

Author(s): Carlos R. Ferreira, Wadih M. Zein, Laryssa A. Huryn, Andrea Merker, Seth I. Berger, William G. Wilson, George E. Tiller, Lynne A. Wolfe, Melissa Merideth, Daniel R. Carvalho, Angela L. Duker, Heiko Bratke, Marte Gjøl Haug, Luis Rohena, Hanne B. Hove, Zhi-Jie Xia, Bobby G. Ng, Hudson H. Freeze, Melissa Gabriel, Alvaro H. Serrano Russi, Lauren Brick, Mariya Kozenko, Dawn L. Earl, Emma Tham, Gen Nis
Published in: Genetics in Medicine, Issue 22/5, 2020, Page(s) 857-866, ISSN 1098-3600
Publisher: Lippincott Williams & Wilkins Ltd.
DOI: 10.1038/s41436-019-0737-1

Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions

Author(s): Patricia Heyn, Clare V. Logan, Adeline Fluteau, Rachel C. Challis, Tatsiana Auchynnikava, Carol-Anne Martin, Joseph A. Marsh, Francesca Taglini, Fiona Kilanowski, David A. Parry, Valerie Cormier-Daire, Chin-To Fong, Kate Gibson, Vivian Hwa, Lourdes Ibáñez, Stephen P. Robertson, Giorgia Sebastiani, Juri Rappsilber, Robin C. Allshire, Martin A. M. Reijns, Andrew Dauber, Duncan Sproul, Andrew P. Ja
Published in: Nature Genetics, Issue 51/1, 2019, Page(s) 96-105, ISSN 1061-4036
Publisher: Nature Publishing Group
DOI: 10.1038/s41588-018-0274-x

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

Author(s): Lindsay C. Burrage, John J. Reynolds, Nissan Vida Baratang, Jennifer B. Phillips, Jeremy Wegner, Ashley McFarquhar, Martin R. Higgs, Audrey E. Christiansen, Denise G. Lanza, John R. Seavitt, Mahim Jain, Xiaohui Li, David A. Parry, Vandana Raman, David Chitayat, Ivan K. Chinn, Alison A. Bertuch, Lefkothea Karaviti, Alan E. Schlesinger, Dawn Earl, Michael Bamshad, Ravi Savarirayan, Harsha Doddapanen
Published in: The American Journal of Human Genetics, Issue 104/3, 2019, Page(s) 422-438, ISSN 0002-9297
Publisher: University of Chicago Press
DOI: 10.1016/j.ajhg.2019.01.007

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency

Author(s): Clare V. Logan, Jennie E. Murray, David A. Parry, Andrea Robertson, Roberto Bellelli, Žygimantė Tarnauskaitė, Rachel Challis, Louise Cleal, Valerie Borel, Adeline Fluteau, Javier Santoyo-Lopez, Tim Aitman, Inês Barroso, Donald Basel, Louise S. Bicknell, Himanshu Goel, Hao Hu, Chad Huff, Michele Hutchison, Caroline Joyce, Rachel Knox, Amy E. Lacroix, Sylvie Langlois, Shawn McCandless, Julie McC
Published in: The American Journal of Human Genetics, Issue 103/6, 2018, Page(s) 1038-1044, ISSN 0002-9297
Publisher: University of Chicago Press
DOI: 10.1016/j.ajhg.2018.10.024

Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome

Author(s): Karen M Knapp, Rosie Sullivan, Jennie Murray, Gregory Gimenez, Pamela Arn, Precilla D'Souza, Alper Gezdirici, William G Wilson, Andrew P Jackson, Carlos Ferreira, Louise S Bicknell
Published in: Journal of Medical Genetics, Issue 57/3, 2020, Page(s) 195-202, ISSN 0022-2593
Publisher: British Medical Association
DOI: 10.1136/jmedgenet-2019-106396

In silico protein interaction screening uncovers DONSON’s role in replication initiation

Author(s): Yang Lim, Lukas Tamayo-Orrego, Ernst Schmid, Zygimante Tarnauskaite, Olga V. Kochenova, Rhian Gruar, Sachiko Muramatsu, Luke Lynch, Aitana Verdu Schlie, Paula L. Carroll, Gheorghe Chistol, Martin A. M. Reijns, Masato T. Kanemaki, Andrew P. Jackson, Johannes C. Walter
Published in: Science, Issue 381, 2024, ISSN 0036-8075
Publisher: American Association for the Advancement of Science
DOI: 10.1126/science.adi3448

Book chapters (2)

RNU4atac-opathy

Author(s): Duker A, Velasco D, Robertson N, Jackson AP, DeFelice M, Bober M
Published in: GeneReviews, Issue 16 February 2023, 2023
Publisher: University of Washington, Seattle

Microcephalic Osteodysplastic Primordial Dwarfism Type II

Author(s): Duker A, Jackson A, Bober M.
Published in: GeneReviews, Issue 2021 Dec 30, 2021
Publisher: University of Washington, Seattle