Publications by authors named "Ingrid Simonic"

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Taking consent for neonatal microarray analysis as a screen for genomic rearrangements: are paediatricians equipped for the genomic era?
Katrina Andrews, Matina Prapa, Elizabeth Radford, Ingrid Simonic, Simon Holden

Arch Dis Child· October 2020

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Clinical and radiological characterization of novel FIG4-related combined system disease with neuropathy.
Georgia C Wright, Richard Brown, Hannah Grayton, John H Livingston, Soo-Mi Park, Ingrid Simonic

Clin Genet· August 2020

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Method to Synchronize Cell Cycle of Human Pluripotent Stem Cells without Affecting Their Fundamental Characteristics.
Loukia Yiangou, Rodrigo A Grandy, Carola M Morell, Rute A Tomaz, Anna Osnato, Ingrid Simonic

Stem Cell Reports· January 2019

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Haploinsufficiency of CUX1 Causes Nonsyndromic Global Developmental Delay With Possible Catch-up Development.
Konrad Platzer, Benjamin Cogné, Jennifer Hague, Carlo L Marcelis, Diana Mitter, Ingrid Simonic

Ann Neurol· August 2018

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Reconstruction of the mouse extrahepatic biliary tree using primary human extrahepatic cholangiocyte organoids.
Fotios Sampaziotis, Alexander W Justin, Olivia C Tysoe, Stephen Sawiak, Edmund M Godfrey, Ingrid Simonic

Nat Med· August 2017

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mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.
Daphné Lehalle, Anne-Laure Mosca-Boidron, Amber Begtrup, Odile Boute-Benejean, Perrine Charles, Ingrid Simonic

J Med Genet· July 2017

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Male child with somatic mosaic Osteopathia Striata with Cranial Sclerosis caused by a novel pathogenic AMER1 frameshift mutation.
Jennifer Hague, Isabelle Delon, Kim Brugger, Howard Martin, Leanne Sparnon, Ingrid Simonic

Am J Med Genet A· July 2017

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Association of a germline copy number polymorphism of APOBEC3A and APOBEC3B with burden of putative APOBEC-dependent mutations in breast cancer.
Serena Nik-Zainal, David C Wedge, Ludmil B Alexandrov, Mia Petljak, Adam P Butler, Ingrid Simonic

Nat Genet· May 2014

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Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency.
Abdulraheem Almalki, Charlotte L Alston, Alasdair Parker, Ingrid Simonic, Sarju G Mehta

Biochim Biophys Acta· January 2014

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Mosaic deletion of the NF1 gene in a patient with cognitive disability and dysmorphic features but without diagnostic features of NF1.
Ana Lisa Taylor Tavares, Lionel Willatt, Ruth Armstrong, Ingrid Simonic, Soo-Mi Park

Am J Med Genet A· May 2013

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A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial features.
Elise Boudry-Labis, Bénédicte Demeer, Cédric Le Caignec, Bertrand Isidor, Michèle Mathieu-Dramard, Ingrid Simonic

Eur J Med Genet· March 2013

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Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.
Gea Beunders, Els Voorhoeve, Christelle Golzio, Luba M Pardo, Jill A Rosenfeld, Ingrid Simonic

Am J Hum Genet· February 2013

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EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.
Christopher T Gordon, Florence Petit, Myriam Oufadem, Charles Decaestecker, Anne-Sophie Jourdain, Ingrid Simonic

J Med Genet· December 2012

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The spectrum of 4q- syndrome illustrated by a case series.
Eugen-Matthias Strehle, Dariusz Gruszfeld, Daniel Schenk, Sarju G Mehta, Ingrid Simonic

Gene· September 2012

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A de novo 4q34 interstitial deletion of at least 9.3 Mb with no discernible phenotypic effect.
Mark S Bateman, Sarju G Mehta, Lionel Willatt, Elizabeth Selkirk, Clare Bedwell, Ingrid Simonic

Am J Med Genet A· July 2010

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Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations.
Paweł Stankiewicz, Partha Sen, Samarth S Bhatt, Mekayla Storer, Zhilian Xia, Ingrid Simonic

Am J Hum Genet· June 2009

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Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.
Heather C Mefford, Andrew J Sharp, Carl Baker, Andy Itsara, Zhaoshi Jiang, Ingrid Simonic

N Engl J Med· October 2008

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Novel deletion variants of 9q13-q21.12 and classical euchromatic variants of 9q12/qh involve deletion, duplication and triplication of large tracts of segmentally duplicated pericentromeric euchromatin.
Lionel R Willatt, John C K Barber, Amanda Clarkson, Ingrid Simonic, F Lucy Raymond

Eur J Hum Genet· January 2007

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