Concepedia

Author

Lucie Orhant

Hôpital CochinORCID

Also Known As

L. Orhant, Lucie Orhant

19

Publications

352

Citations

11

H-Index

24

Concepts

All Affiliations

Hôpital CochinUniversité Paris CitéInsermInstitut CochinAssistance Publique – Hôpitaux de Paris
LO

About

Lucie Orhant is an author at Hôpital Cochin specializing in genomics, molecular diagnostics, and genetics.

Top Concepts

#ConceptH-IndexPublicationsCitations

1

Medicine

3

3

63

2

Public Health

2

2

38

3

Biostatistics

2

2

38

4

Engineering

1

1

25

5

Molecular Biology

1

1

25

Lucie Orhant

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9

Publications

271

Citations

9

H-Index

YearCitations

Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis

Camille Louvrier, Éric Pasmant, Audrey Briand‐Suleau,

Neuro-Oncology

2018

65

Droplet digital PCR combined with minisequencing, a new approach to analyze fetal DNA from maternal blood: application to the non-invasive prenatal diagnosis of achondroplasia

Lucie Orhant, Olivia Anselem, Mélanie Fradin,

Prenatal Diagnosis

2016

60

Non-invasive prenatal diagnosis of paternally inherited disorders from maternal plasma: detection of <i>NF1</i> and <i>CFTR</i> mutations using droplet digital PCR

Aurélia Gruber, Mathilde Pacault, Laïla El Khattabi,

Clinical Chemistry and Laboratory Medicine (CCLM)

2018

36

Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing

Juliette Nectoux, Rafael de Cid, Sylvain Baulande,

European Journal of Human Genetics

2014

27

Custom oligonucleotide array-based CGH: a reliable diagnostic tool for detection of exonic copy-number changes in multiple targeted genes

Aurélie Vasson, Céline Leroux, Lucie Orhant,

European Journal of Human Genetics

2013

25

A family with Wagner syndrome with uveitis and a new versican mutation.

Pierre-Raphaël Rothschild, Antoine P. Brézin, Brigitte Nédelec,

PubMed

2013

22

<scp>Non‐invasive</scp> prenatal diagnosis of single gene disorders by paternal mutation exclusion: 3 years of clinical experience

Mathilde Pacault, Camille Verebi, Maureen Lopez,

BJOG An International Journal of Obstetrics & Gynaecology

2022

13

Contribution of whole genome sequencing in the molecular diagnosis of mosaic partial deletion of the NF1 gene in neurofibromatosis type 1

Laurence Pacot, Valérie Pelletier, Albain Chansavang,

Human Genetics

2022

12

Droplet digital PCR, a new approach to analyze fetal DNA from maternal blood: application to the determination of fetal RHD genotype

Lucie Orhant, Sophie Rondeau, Aurélie Vasson,

Annales de biologie clinique

2016

11

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