Publications by authors named "Jennifer Hague"

10Publications

Clinical Diagnosis of Classical Cornelia de Lange Syndrome Made From Postmortem Examination of Second Trimester Fetus With Novel Pathogenic Variant.

Pediatr Dev Pathol 2019 Oct 19;22(5):475-479. Epub 2019 Mar 19.

Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.

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http://dx.doi.org/10.1177/1093526619834429DOI Listing
October 2019

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

Am J Med Genet A 2017 Jul 12;173(7):1931-1935. Epub 2017 May 12.

Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.

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http://dx.doi.org/10.1002/ajmg.a.38261DOI Listing
July 2017

Prenatal genetic diagnosis of Costello syndrome in a male fetus with recurrent HRAS mutation p.Gly12Ser.

Prenat Diagn 2017 04 23;37(4):409-411. Epub 2017 Feb 23.

East Anglian Genetics Service, Department of Clinical Genetics, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.

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http://doi.wiley.com/10.1002/pd.5009
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http://dx.doi.org/10.1002/pd.5009DOI Listing
April 2017

Molecularly proven mosaicism in phenotypically normal parent of a girl with Freeman-Sheldon Syndrome caused by a pathogenic MYH3 mutation.

Am J Med Genet A 2016 06 21;170(6):1608-12. Epub 2016 Mar 21.

Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.37631DOI Listing
June 2016