Daphné Lehalle

13PUBLICATIONS
167CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Pacific Peoples biomedical and clinical scienceOphthalmology and optometry not elsewhere classifiedNeurogeneticsOptical technology
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Publications (13)

|Sep 19, 2024
Germline mutations in a G protein identify signaling cross-talk in T cells.

Hyoungjun Ham, Huie Jing, Ian T Lamborn

|Apr 21, 2022
Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients.

Daphné Lehalle, Ange-Line Bruel, Antonio Vitobello

|Jul 29, 2021
O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.

Clara Velmans, Anne H O'Donnell-Luria, Emanuela Argilli

|May 04, 2021
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.

Ilaria Parenti, Daphné Lehalle, Caroline Nava

|May 16, 2020
De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features.

Daphné Lehalle, Pierre Vabres, Arthur Sorlin

|Oct 04, 2019
Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.

Ash Zawerton, Cyril Mignot, Ashley Sigafoos

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Frequent Collaborators

6 joint publications

Laurence Faivre

3 joint publications

Massimiliano Rossi

3 joint publications

Paul Kuentz

2 joint publications

Florence Petit