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European Journal of Human Genetics : EJHG|January 10, 2019
Duplication of 10q24 locus: broadening the clinical and radiological spectrumMuriel Holder-Espinasse, Aleksander Jamsheer, Fabienne Escande, et al.
European Journal of Medical Genetics|January 18, 2015
15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patientsClémence Vanlerberghe, Florence Petit, Valérie Malan, et al.
Human Mutation|January 29, 2014
Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patientsDaphné Lehalle, Christopher T Gordon, Myriam Oufadem, et al.
Clinical Genetics|February 29, 2024
Cerebral dural arteriovenous fistulas in patients with PTEN-related hamartoma tumor syndromeAnna Gerasimenko, Cyril Mignot, Olivier Naggara, et al.
Clinical Genetics|January 8, 2021
Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trialsAurore Garde, Laurent Guibaud, Alice Goldenberg, et al.
Human Mutation|December 2, 2017
Inactivation of AMMECR1 is associated with growth, bone, and heart alterationsMariana Moysés-Oliveira, Giuliana Giannuzzi, Richard J Fish, et al.
Kidney International|March 1, 2022
Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tractJohannes Münch, Marie Engesser, Ria Schönauer, et al.
Human Mutation|February 16, 2022
Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published casesNancy Vegas, Zeynep Demir, Christopher T Gordon, et al.
Clinical Genetics|April 26, 2022
Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort studyGuillaume Jouret, Solveig Heide, Arthur Sorlin, et al.
Circulation|July 9, 2017
Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK SignalingMustapha Amyere, Nicole Revencu, Raphaël Helaers, et al.
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