Geneviève Baujat

Also affiliated with Inserm, Université Paris Cité, Institut Necker Enfants Malades, Assistance Publique – Hôpitaux de Paris, Centre de recherche en Epidémiologie et Santé des Populations, Hôpital des Enfants, Institut des Maladies Génétiques Imagine

Biochemistry, Genetics and Molecular BiologyMedicine

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

1in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Why this DataRank?

An author's DataRank is the sum of the DataRanks of all 1 indexed paper attributed to them. A prolific author with many moderate-impact papers can outrank one with a single high-impact paper.

Author scores recompute whenever paper DataRanks are refreshed, so this number lags the underlying paper scores by at most one batch run.

Read the full methodology →

Papers

Driven by 12 papers. Top paper: “Patients with ACVR1R206H mutations have an increased prevalence of cardiac conduction abnormalities on electrocardiogram in a natural history study of Fibrodysplasia Ossificans Progressiva”.

Patients with ACVR1R206H mutations have an increased prevalence of cardiac conduction abnormalities on electrocardiogram in a natural history study of Fibrodysplasia Ossificans Progressiva

Orphanet Journal of Rare Diseases(2020)10.1186/s13023-020-01465-x

N/A

0.746DataRank · unranked

15 citations

Carmen De Cunto, Geneviève Baujat, Kelly L. Wentworth, Donna R. Grogan, Matthew A. Brown +9 more

Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.04.010

N/A

0.538DataRank · unranked

35 citations

Yunia Sribudiani, Xiaomin Dong, Céline Huber, Chelsea Kois, Geneviève Baujat +27 more

Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiencies

Journal of Bone and Mineral Research(2021)10.1002/jbmr.4418

N/A

0DataRank · unranked

74 citations

Kristina Kintzinger, Mary E. Hackbarth, Ulrike Botschen, Yvonne Nitschke, M. Zulf Mughal +10 more

Prevalence of fibrodysplasia ossificans progressiva (FOP) in the United States: estimate from three treatment centers and a patient organization

Orphanet Journal of Rare Diseases(2021)10.1186/s13023-021-01983-2

N/A

0DataRank · unranked

65 citations

Edward C. Hsiao, Geneviève Baujat, David Lapidus, Adam Sherman, Frederick S. Kaplan +1 more

Effects of eight neuropsychiatric copy number variants on human brain structure

Translational Psychiatry(2021)10.1038/s41398-021-01490-9

N/A

0DataRank · unranked

47 citations

Kuldeep Kumar, Clara Moreau, Sandra Martin‐Brevet, Guillaume Huguet, Catherine Schramm +95 more

Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology

Nature Communications(2020)10.1038/s41467-020-18146-9

N/A

0DataRank · unranked

64 citations

Karim Harhouri, Morgane Le Mao, Geneviève Baujat, Sheela Nampoothiri, Hülya Kayserili +25 more

Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype

Genetics in Medicine(2021)10.1016/j.gim.2021.09.005

N/A

0DataRank · unranked

25 citations

Frédéric Ebstein, Anna Hurst, Marie Vincent, Ingrid Bader, Natasha L. Rudy +46 more

De novo variants in the PSMC3 proteasome AAA-ATPase subunit gene cause neurodevelopmental disorders associated with type I interferonopathies

medRxiv(2021)10.1101/2021.12.07.21266342

N/A

0DataRank · unranked

3 citations

Sébastien Küry, Victoria Most, Cory Rosenfelt, Marie‐Pier Scott‐Boyer, Geeske M. van Woerden +67 more

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production

Science Translational Medicine(2023)10.1126/scitranslmed.abo3189

N/A

0DataRank · unranked

36 citations

Sébastien Küry, Victoria Most, Cory Rosenfelt, Marie‐Pier Scott‐Boyer, Geeske M. van Woerden +69 more

Phenotypic characterization of ENPP1 deficiency: generalized arterial calcification of infancy and autosomal recessive hypophosphatemic rickets type 2

JBMR Plus(2025)10.1093/jbmrpl/ziaf019

N/A

0DataRank · unranked

5 citations

Mary E. Hackbarth, Yvonne Nitschke, Ulrike Botschen, Rachel I. Gafni, M. Zulf Mughal +9 more

EPHX1 mutations cause a lipoatrophic diabetes syndrome due to impaired epoxide hydrolysis and increased cellular senescence

eLife(2021)10.7554/elife.68445

N/A

0DataRank · unranked

29 citations

Christophe Morisseau, Wendy K. Chung, Jamila Zammouri, Martine Auclair, Geneviève Baujat +12 more

Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Can Be Caused by Mutations in Either ENPP1 or ABCC6

UNC Libraries(2020)10.17615/w1jf-hz72

N/A

0DataRank · unranked

0 citations

Wendy E. Smith, Lourdes Loidi, Ludovic Martin, Yvonne Nitschke, Marcel du Moulin +26 more