Sandra Whalen

Also affiliated with Hôpital Armand-Trousseau

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

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 7 papers. Top paper: “POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies”.

POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.03.014

N/A

0.457DataRank · unranked

20 citations

Kristin E.N. Watt, Satoru Ide, Kristina Baltrunaite, Chad Brunswick, Katherine Inskeep +40 more

Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants

European Journal of Human Genetics(2021)10.1038/s41431-021-00821-0

N/A

0DataRank · unranked

15 citations

Marie Shaw, Cyril Mignot, Delphine Héron, Sandra Chantot‐Bastaraud, Cecile Cieuta Walti +51 more

Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability

Journal of Medical Genetics(2021)10.1136/jmedgenet-2020-107462

N/A

0DataRank · unranked

10 citations

Alistair T. Pagnamenta, Matteo P. Ferla, Jonathan Gadian, Brian Hon‐Yin Chung, Marcus C.Y. Chan +33 more

PURA- Related Developmental and Epileptic Encephalopathy

Neurology Genetics(2021)10.1212/nxg.0000000000000613

N/A

0DataRank · unranked

52 citations

Elena Gardella, Cathrine E. Gjerulfsen, Allan Bayat, Rob P.W. Rouhl, Margot R.F. Reijnders +95 more

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

Brain(2023)10.1093/brain/awad039

N/A

0DataRank · unranked

12 citations

Tracy Lau, Homa Tajsharghi, Ehsan Ghayoor Karimiani, Ariana Kariminejad, Yichao Yu +95 more

Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder

Pediatric Neurology(2024)10.1016/j.pediatrneurol.2024.07.010

N/A

0DataRank · unranked

2 citations

Heena Patel, Siddharth Srivastava, Lindsay C. Swanson, Boris Keren, Sandra Whalen +95 more

A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.07.006

N/A

0DataRank · unranked

13 citations

Nina Kozar, Ruizhi Duan, stephen bradley, Kenji Yokochi, Fuad Al Mutairi +35 more