Ingrid Simonic

Cambridge, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 14 publications

Clinical and radiological characterization of novel FIG4-related combined system disease with neuropathy.

Clinical and radiological characterization of novel FIG4-related combined system disease with neuropathy.

Journal: Clinical genetics
Published: February 05, 2020

Taking consent for neonatal microarray analysis as a screen for genomic rearrangements: are paediatricians equipped for the genomic era?

Taking consent for neonatal microarray analysis as a screen for genomic rearrangements: are paediatricians equipped for the genomic era?

Journal: Archives of disease in childhood
Published: September 08, 2019

Method to Synchronize Cell Cycle of Human Pluripotent Stem Cells without Affecting Their Fundamental Characteristics.

Method to Synchronize Cell Cycle of Human Pluripotent Stem Cells without Affecting Their Fundamental Characteristics.

Journal: Stem cell reports
Published: July 03, 2018

Haploinsufficiency of CUX1 Causes Nonsyndromic Global Developmental Delay With Possible Catch-up Development.

Haploinsufficiency of CUX1 Causes Nonsyndromic Global Developmental Delay With Possible Catch-up Development.

Journal: Annals of neurology
Published: March 06, 2018

Male child with somatic mosaic Osteopathia Striata with Cranial Sclerosis caused by a novel pathogenic AMER1 frameshift mutation.

Male child with somatic mosaic Osteopathia Striata with Cranial Sclerosis caused by a novel pathogenic AMER1 frameshift mutation.

Journal: American journal of medical genetics. Part A
Published: December 09, 2016

STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.

STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.

Journal: Journal of medical genetics
Published: November 23, 2016

Reconstruction of the mouse extrahepatic biliary tree using primary human extrahepatic cholangiocyte organoids.

Reconstruction of the mouse extrahepatic biliary tree using primary human extrahepatic cholangiocyte organoids.

Journal: Nature medicine
Published: July 11, 2016

The clinical utility of genetic testing of tissues from pregnancy losses.

The clinical utility of genetic testing of tissues from pregnancy losses.

Journal: BJOG : an international journal of obstetrics and gynaecology
Published: June 16, 2016

Association of a germline copy number polymorphism of APOBEC3A and APOBEC3B with burden of putative APOBEC-dependent mutations in breast cancer.

Association of a germline copy number polymorphism of APOBEC3A and APOBEC3B with burden of putative APOBEC-dependent mutations in breast cancer.

Journal: Nature genetics
Published: August 15, 2013

Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency.

Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency.

Journal: Biochimica et biophysica acta
Published: July 18, 2013

EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.

EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.

Journal: Journal of medical genetics
Published: November 29, 2012

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.

Journal: American journal of human genetics
Published: September 14, 2012
Showing 1-12 of 14

Last Updated: 09/26/2026