Elizabeth Bhoj

Also affiliated with University of Pennsylvania

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

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 37 papers. Top paper: “Secondary ACMG and non-ACMG genetic findings in a multiethnic cohort of 16,713 pediatric participants”.

Secondary ACMG and non-ACMG genetic findings in a multiethnic cohort of 16,713 pediatric participants

Genetics in Medicine(2024)10.1016/j.gim.2024.101225

N/A

0.712DataRank · unranked

24 citations

Michael E. March, Leila Youssefian, Deborah J. Watson, Esha Bhandari, Xiang Wang +30 more

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62124

N/A

0.644DataRank · unranked

72 citations

Ian M. Campbell, Margaret Harr, Nina B. Gold, Dong Li, Hans T. Björnsson +95 more

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Journal of Clinical Investigation(2023)10.1172/jci171235

N/A

0.578DataRank · unranked

46 citations

Qin Wang, Allan Bayat, Mark R. Battig, Yijing Zhou, Daniëlle G.M. Bosch +95 more

Pathogenic variants in SMARCA5 , a chromatin remodeler, cause a range of syndromic neurodevelopmental features

Science Advances(2021)10.1126/sciadv.abf2066

N/A

0.529DataRank · unranked

33 citations

Qin Wang, Naihua N. Gong, Alina Kurolap, Hagit Baris Feldman, Nikolas Boy +33 more

Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.03.009

N/A

0.515DataRank · unranked

30 citations

Jennifer L. Cohen, Sarah E. Sheppard, Pavithran Guttipatti, Tsz Y. Lo, Natalie Weed +14 more

Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays

European Journal of Human Genetics(2023)10.1038/s41431-023-01434-5

N/A

0.494DataRank · unranked

26 citations

Leticia S. Matsuoka, Michael March, Dong Li, Elly Brokamp, Sara Benito‐Sanz +32 more

Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans

Genetics in Medicine(2021)10.1016/j.gim.2021.09.014

N/A

0.449DataRank · unranked

19 citations

Irena Feng, Ana Rita Costa, Rita Pinto‐Costa, Jennifer E. Neil, Oana Caluseriu +21 more

KOLF2.1J iPSCs carry CNVs associated with neurodevelopmental disorders

Cell stem cell(2024)10.1016/j.stem.2024.02.007

N/A

0.442DataRank · unranked

18 citations

Jonathan E. Perdomo, Munir E. Khan, Thomas Roulé, Brianna Disanza, Gregory G. Cajka +12 more

Neptune: an environment for the delivery of genomic medicine

Genetics in Medicine(2021)10.1038/s41436-021-01230-w

N/A

0.330DataRank · unranked

8 citations

Victoria Yi, David R. Murdock, Sara E. Kalla, Tsung-Jung Wu, Aniko Sabo +93 more

Heterozygous variants in TBCK cause a mild neurologic syndrome in humans and mice

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63320

N/A

0.312DataRank · unranked

7 citations

Abdias Diaz‐Rosado, Elisa Varella‐Branco, Igor Cabreira Ramos, Aaron Black, Rajesh Angireddy +8 more

Utility of genome sequencing in exome‐negative pediatric patients with neurodevelopmental phenotypes

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63817

N/A

0.269DataRank · unranked

5 citations

Eden Yitna Teferedegn, Dong Li, Kayla Muirhead, Holly Dubbs, Jacqueline Leonard +12 more

Multi-modal characterization of rodent tooth development

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.11.01.621612

N/A

0.126DataRank · unranked

1 citations

Kaitlin A. Katsura, Nir Z. Badt, Marius Didziokas, Sonia Dougherty, D. L. Goldsby +3 more

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner Syndrome

Molecular Genetics and Metabolism(2021)10.1016/s1096-7192(21)00373-5

N/A

0.104DataRank · unranked

1 citations

Ian M. Campbell, Margaret Harr, Nina B. Gold, Dong Li, Hans T. Björnsson +95 more

Single substitution in H3.3G34 alters DNMT3A recruitment to cause progressive neurodegeneration

Cell(2023)10.1016/j.cell.2023.02.023

N/A

0DataRank · unranked

68 citations

Carol Chen, Augusto Faria Andrade, Nisha Kabir, Pariya Azarafshar, Shahir M. Morcos +40 more

Monoallelic loss-of-function BMP2 variants result in BMP2-related skeletal dysplasia spectrum

Genetics in Medicine(2023)10.1016/j.gim.2023.100863

N/A

0DataRank · unranked

6 citations

Ashish R. Deshwar, Harsha Murthy, Daniela D’Agostino, Lucie Dupuis, Balram Gangaram +19 more

A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63130

N/A

0DataRank · unranked

3 citations

Soumya Rao, Sandra von Hardenberg, Dong Li, Liza L. Cox, Paul C. Lee +34 more

High density SNP array and reanalysis of genome sequencing uncovers CNVs associated with neurodevelopmental disorders in KOLF2.1J iPSCs

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.06.26.546614

N/A

0DataRank · unranked

4 citations

Jonathan E. Perdomo, Munir E. Khan, Brianna Disanza, Gregory G. Cajka, Sunyimeng Lei +12 more

Novel insights into the phenotypic spectrum and pathogenesis of Hardikar syndrome

Genetics in Medicine(2024)10.1016/j.gim.2024.101222

N/A

0DataRank · unranked

8 citations

Michael March, Christopher J. Cardinale, Yichuan Liu, Mark R. Battig, Lívia Sertori Finoti +15 more

The spectrum of heart defects in the TRAF7 -related multiple congenital anomalies-intellectual disability syndrome

Proceedings of the National Academy of Sciences(2024)10.1073/pnas.2317601121

N/A

0DataRank · unranked

4 citations

Chiara De Luca, Francesco Brancati, Rossana Sanchez Russo, Dong Li, Elizabeth Bhoj +29 more

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

American Journal of Medical Genetics Part A(2025)10.1002/ajmg.a.64119

N/A

0DataRank · unranked

3 citations

Caoimhe McKenna, Karen Stals, Antonio Vitobello, Mathilde Renaud, Claudine Rieubland +12 more

Bi-allelic variants in BCAT1 impair mitochondrial function and are associated with a candidate neurometabolic disorder

Human Genetics and Genomics Advances(2025)10.1016/j.xhgg.2025.100525

N/A

0DataRank · unranked

1 citations

Giulia S. Porcari, Lívia Sertori Finoti, Leonardo Ramos-Rodriguez, Devin M Burris, Justin A. McDonough +15 more

MAJIQ-CLIN: A novel tool for the identification of Mendelian disease-causing variants from RNA-Seq data

medRxiv(2025)10.1101/2025.01.30.25321185

N/A

0DataRank · unranked

0 citations

Dina Issakova, Barry Slaff, San Jewell, Nicholas F. Lahens, Gregory R. Grant +7 more

BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy

medRxiv(2025)10.1101/2025.07.17.25331211

N/A

0DataRank · unranked

0 citations

Carlos González, Chad D. Williamson, Guy Helman, Leslie E. Sanderson, Brianna Disanza +34 more

RNF2 Missense Variants Disrupt Polycomb Repression and Enable Ectopic Mesenchymal Lineage Conversion During Human Neural Differentiation

Research Square(2025)10.21203/rs.3.rs-7143352/v1

N/A

0DataRank · unranked

0 citations

Charles W. Ryan, Samantha L. Regan, Jason Sheingold, Anupam Goswami, Maureen Mulhern +9 more

Gain and loss of function variants in EZH1 disrupt neurogenesis timing and cause overlapping neurodevelopmental disorders

medRxiv(2022)10.1101/2022.08.09.22278430

N/A

0DataRank · unranked

1 citations

Yijing Zhou, Qian Yang, Chul‐Hwan Lee, Paula Espana-Bonilla, Shuo Zhang +48 more

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

European Journal of Human Genetics(2020)10.1038/s41431-020-0571-6

N/A

0DataRank · unranked

38 citations

Sophie Nambot, Laurence Faivre, Ghayda Mirzaa, Julien Thévenon, Ange‐Line Bruel +60 more

Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy

American Journal of Medical Genetics Part A(2020)10.1002/ajmg.a.61615

N/A

0DataRank · unranked

35 citations

Randall A. Bly, Natalie Wu, Catherine M. Albert, Julie Park, Joseph T.C. Shieh +26 more

Pathogenic variants in SMARCA5 , a chromatin remodeler, cause a range of syndromic neurodevelopmental features

medRxiv(2020)10.1101/2020.10.26.20217109

N/A

0DataRank · unranked

0 citations

Qin Wang, Naihua N. Gong, Alina Kurolap, Hagit Baris Feldman, Nikolas Boy +33 more

Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.11.003

N/A

0DataRank · unranked

34 citations

Stéphanie Efthymiou, Simone Seiffert, Karen Vargas Parra, Sukyeong Lee, Alessia Nasca +35 more

ALG13 X‐linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes

Journal of Inherited Metabolic Disease(2021)10.1002/jimd.12378

N/A

0DataRank · unranked

29 citations

Miao He, Andrew C. Edmondson, Earnest James Paul Daniel, Jie Chen, Tyhiesia Donald +21 more

Cleft palate morphology, genetic etiology, and risk of mortality in infants with Robin sequence

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62430

N/A

0DataRank · unranked

9 citations

Jonathan A. Perkins, Julia Parish‐Morris, Anne Hing, Maida L. Chen, Christopher M. Cielo︎ +12 more

Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency

Genetics in Medicine(2021)10.1016/j.gim.2021.10.014

N/A

0DataRank · unranked

4 citations

Siying Lin, Promita Ghosh, Francesca Clementina Radio, Emily Farrow, Isabelle Thiffault +35 more

Variants in ADD1 Cause Intellectual Disability, Corpus Callosum Dysgenesis, and Ventriculomegaly in Humans

SSRN Electronic Journal(2021)10.2139/ssrn.3931622

N/A

0DataRank · unranked

0 citations

Irena Feng, Ana Rita Costa, Rita Pinto‐Costa, Jennifer Neil, Oana Caluseriu +16 more

Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology

Human Genetics and Genomics Advances(2022)10.1016/j.xhgg.2022.100102

N/A

0DataRank · unranked

26 citations

Laura Bryant, Dong Li, Julie McGaughran, Isabelle Maystadt, Stéphanie Moortgat +34 more

The Virtual Summer Research Program: supporting future physician-scientists from underrepresented backgrounds

Journal of Clinical and Translational Science(2022)10.1017/cts.2022.447

N/A

0DataRank · unranked

12 citations

Briana Christophers, Rio Barrere‐Cain, Yentli E. Soto Albrecht, Michael C. Granovetter, Rachit Kumar +5 more

Contribution of Mendelian Disorders in a Population-Based Pediatric Neurodegeneration Cohort

The Journal of Pediatrics(2022)10.1016/j.jpeds.2022.05.017

N/A

0DataRank · unranked

2 citations

Frank Mentch, Dong Li, Erin E. Will, Rebecca C. Ahrens‐Nicklas, Elizabeth Bhoj +1 more

Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome

Human Molecular Genetics(2020)10.1093/hmg/ddaa050

N/A

0DataRank · unranked

42 citations

Athina Ververi, Ana Beleza‐Meireles, Weizhen Ji, Emily K. Mis, Quinten Patterson +25 more