Emily O’Heir

Biochemistry, Genetics and Molecular Biology

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 17 papers. Top paper: “Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations”.

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Genetics in Medicine(2021)10.1038/s41436-021-01232-8

N/A

0DataRank · unranked

49 citations

Rebecca C. Spillmann, Harley T. Kurata, Shawn M. Lamothe, Jasmine Maghera, Rami Abou Jamra +92 more

De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability

Journal of Medical Genetics(2021)10.1136/jmedgenet-2021-107751

N/A

0DataRank · unranked

30 citations

Margot A. Cousin, Nikita R. Dsouza, Thomas D. Challman, Karen E. Wain, Zöe Powis +67 more

seqr : A web‐based analysis and collaboration tool for rare disease genomics

Human Mutation(2022)10.1002/humu.24366

N/A

0DataRank · unranked

112 citations

Hana Snow, Ben Weisburd, Shifa Zhang, Samantha Baxter, Stephanie DiTroia +20 more

Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling

Genetics in Medicine(2022)10.1016/j.gim.2022.07.005

N/A

0DataRank · unranked

23 citations

Rachel VanCoillie, Elizabeth VanSickle, Deanna Alexis Carere, Kara Withrow, Erin Torti +43 more

Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.62940

N/A

0DataRank · unranked

5 citations

Isabel Haviland, Yoel Gofin, Lindsay C. Swanson, Christelle Moufawad El Achkar, John M. Schreiber +21 more

Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis

medRxiv(2023)10.1101/2023.08.08.23293829

N/A

0DataRank · unranked

8 citations

Gabrielle Lemire, Maha S. Zaki, Mariel Wissman, Wathone Win, S. White +70 more

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition

Research Square(2023)10.21203/rs.3.rs-3317938/v1

N/A

0DataRank · unranked

4 citations

Ghayda Mirzaa, Keqin Yan, Raissa Relator, Sara Timpano, Binnaz Yalcin +57 more

Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease

medRxiv(2023)10.1101/2023.10.05.23296595

N/A

0DataRank · unranked

1 citations

Alba Sanchis‐Juan, Kathryn Russell, Samantha Baxter, Katherine R. Chao, Moriel Singer‐Berk +59 more

Genome Sequencing for Diagnosing Rare Diseases

New England Journal of Medicine(2024)10.1056/nejmoa2314761

N/A

0DataRank · unranked

189 citations

Gabrielle Lemire, Eva Berger, Maha S. Zaki, Mariel Wissmann, Wathone Win +84 more

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy

Nature Genetics(2024)10.1038/s41588-023-01651-0

N/A

0DataRank · unranked

33 citations

Dan Cox, Irina Zaharieva, Valeria Di Leo, J. Sarparanta, Per Harald Jonson +80 more

Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.03.008

N/A

0DataRank · unranked

24 citations

Alba Sanchis‐Juan, Kathryn Russell, Samantha Baxter, Katherine R. Chao, Moriel Singer‐Berk +59 more

Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data sets

Genetics in Medicine(2024)10.1016/j.gim.2024.101336

N/A

0DataRank · unranked

7 citations

Rakshya Sharma, Villem Pata, Tiia Reimand, Vijay S Ganesh, Christina Austin‐Tse +34 more

An expansion of the phenotype in individuals with SYNCRIP-Related Neurodevelopmental Disorder

Rare(2024)10.1016/j.rare.2024.100052

N/A

0DataRank · unranked

4 citations

Joanna L. Feng, Lindsay A. Phillips, Kara Murias, Marcia Ferguson, Kristin Barañano +26 more

Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases

medRxiv(2024)10.1101/2024.12.22.24319370

N/A

0DataRank · unranked

1 citations

Kristen M. Laricchia, Nicole J. Lake, Sushma Chaluvadi, Vijay Ganesh, Stephanie DiTroia +30 more

Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets

medRxiv(2024)10.1101/2024.02.11.24302646

N/A

0DataRank · unranked

0 citations

Rakshya Sharma, Villem Pata, Tiia Reimand, Vijay S Ganesh, Christina Austin‐Tse +34 more

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition

Nature Communications(2025)10.1038/s41467-025-64838-5

N/A

0DataRank · unranked

4 citations

Keqin Yan, Raissa Relator, Mathieu Lévesque, P.S. Jayasinghe, Sara Timpano +61 more

Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases

Human Genetics and Genomics Advances(2025)10.1016/j.xhgg.2025.100441

N/A

0DataRank · unranked

1 citations

Kristen M. Laricchia, Nicole J. Lake, Sushma Chaluvadi, Vijay Ganesh, Stephanie DiTroia +31 more