Cascade counselling and testing. Recommendations of the European Society of Human Genetics
Guido de Wert, Carla van El, Angus Clarke, Christophe Cordier et autres
9 citationsEuropean Journal of Human Genetics
Florence Fellmann
Informations fournies par OpenAlex. Research Africa ne déduit ni nationalité, ni poste, ni coordonnées personnelles.
109Publications signalées
4608Citations signalées
1Affiliations récentes
Institutions déclarées
Domaines associés
Cardiac electrophysiology and arrhythmiasGenetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesGenomic variations and chromosomal abnormalitiesPrenatal Screening and DiagnosticsCongenital heart defects research
Publications récentes
Tuberous sclerosis: a survey in the canton of Vaud, Switzerland
Olivia Hagon-Nicod, Florence Fellmann, Jan Nový, Sébastien Lebon et autres
3 citationsFrontiers in Medicine
An atypical form of 60S ribosomal subunit in Diamond-Blackfan anemia linked to RPL17 variants
Florence Fellmann, Carol Saunders, Marie-Françoise O’Donohue, David W. Reid et autres
4 citationsJCI Insight
Herpes simplex encephalitis due to a mutation in an E3 ubiquitin ligase
Stéphanie Bibert, Mathieu Quinodoz, Sylvain Perriot, Fanny S. Krebs et autres
11 citationsNature Communications
Identification of potential common genetic modifiers of neurofibromas: a genome-wide association study in 1333 patients with neurofibromatosis type 1
Laurence Pacot, Audrey Sabbagh, Pierre Sohier, Djihad Hadjadj et autres
10 citationsBritish Journal of Dermatology
Implication of folate deficiency in CYP2U1 loss of function
Claire Pujol, Anne Legrand, Livia Parodi, Priscilla Thomas et autres
20 citationsThe Journal of Experimental Medicine
Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity
Endika Haro, Florence Petit, Charmaine U. Pira, Conor Spady et autres
36 citationsNature Communications
Opportunistic genomic screening. Recommendations of the European Society of Human Genetics
Guido de Wert, Wybo Dondorp, Angus Clarke, Elisabeth Dequeker et autres
158 citationsEuropean Journal of Human Genetics
Next‐generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy
Hui Liu, Anna‐Gaëlle Giguet‐Valard, Thomas Simonet, Emmanuelle Szenker‐Ravi et autres
34 citationsHuman Mutation
Identification of limb-specific Lmx1b auto-regulatory modules with Nail-Patella Syndrome pathogenicity
Endika Haro, Florence Petit, Charmaine U. Pira, Conor Spady et autres
0 citationsbioRxiv (Cold Spring Harbor Laboratory)
Herpes simplex encephalitis in adult patients with MASP-2 deficiency
Stéphanie Bibert, Jocelyne Piret, Mathieu Quinodoz, Emilie Collinet et autres
25 citationsPLoS Pathogens
ESHG PPPC Comments on postmortem use of genetic data for research purposes
Florence Fellmann, Emmanuelle Rial‐Sebbag, Christine Patch, Sabine Hentze et autres
6 citationsEuropean Journal of Human Genetics
BNTIC News n’est pas le producteur de ces données. Recherche à la demande dans Crossref et Europe PMC, sans clé ; OpenAlex reste optionnel. Aucun service payant requis, aucune réponse conservée. Sources et limites.