Elaine H. Zackai

Also affiliated with University of Pennsylvania

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 3%percentile

1.6Author DataRank

Indexed papers

2in 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 2 indexed papers 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 →

The highest-impact dataset this researcher has shared, ranked by DataRank — the single contribution doing the most to lift their data-sharing standing.

Effects of copy number variations on brain structure and risk for psychiatric illness: Large‐scale studies from theENIGMAworking groups onCNVs

Human Brain Mapping(2021)10.1002/hbm.25354

Top 18%

1.2DataRank

Top 18%73 citations

Christopher R. K. Ching, Sophia I. Thomopoulos, Dennis van der Meer, Daqiang Sun, Julio E. Villalón‐Reina +95 more

Papers

Driven by 41 papers — median percentile 70. Top paper: “Mapping Subcortical Brain Alterations in 22q11.2 Deletion Syndrome: Effects of Deletion Size and Convergence With Idiopathic Neuropsychiatric Illness”.

Mapping Subcortical Brain Alterations in 22q11.2 Deletion Syndrome: Effects of Deletion Size and Convergence With Idiopathic Neuropsychiatric Illness

American Journal of Psychiatry(2020)10.1176/appi.ajp.2019.19060583

N/A

1.4DataRank · unranked

89 citations

Boris A. Gutman, Daqiang Sun, Julio E. Villalón‐Reina, Anjanibhargavi Ragothaman, Dmitry Isaev +50 more

Effects of copy number variations on brain structure and risk for psychiatric illness: Large‐scale studies from theENIGMAworking groups onCNVs

Human Brain Mapping(2021)10.1002/hbm.25354

Top 18%

1.2DataRank

Top 18%73 citations

Christopher R. K. Ching, Sophia I. Thomopoulos, Dennis van der Meer, Daqiang Sun, Julio E. Villalón‐Reina +95 more

Microduplications of 16p11.2 are associated with schizophrenia

Nature Genetics(2009)10.1038/ng.474

N/A

0.990DataRank · unranked

733 citations

Kenneth S. Kendler, Manfred Kayser, Anjene M Addington, Jon McClellan, Milica Pejović-Milovančević +66 more

Effects of copy number variations on brain structure and risk for psychiatric illness: Large-scale studies from the ENIGMA Working Groups on CNVs

PsyArXiv (OSF Preprints)(2021)10.31234/osf.io/57erc

Top 43%

0.437DataRank

Top 43%12 citations

Christopher R. K. Ching, Sophia I. Thomopoulos, Dennis van der Meer, Julio E. Villalón‐Reina, Ingrid Agartz +95 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

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

Optical mapping of the 22q11.2DS region reveals complex repeat structures and preferred locations for non-allelic homologous recombination (NAHR)

Scientific Reports(2020)10.1038/s41598-020-69134-4

N/A

0DataRank · unranked

34 citations

Oanh Tran, Andrea Jin, Danielle Carrado, Benjamin A. Silva, Lahari Uppuluri +13 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

0DataRank · unranked

30 citations

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

Mapping the Relationship between Dysmorphology and Cognitive, Behavioral, and Developmental Outcomes in Children with Autism Spectrum Disorder

Autism Research(2020)10.1002/aur.2314

N/A

0DataRank · unranked

6 citations

Lisa D. Wiggins, Laura A. Schieve, Marshalyn Yeargin‐Allsopp, Patricia M. Dietz, Arthur S. Aylsworth +10 more

Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and DiGeorge Syndromes

UNC Libraries(2020)10.17615/86qc-4989

N/A

0DataRank · unranked

0 citations

Thomas Werge, Anders Vangkilde, Koenraad Devriendt, Carolyn Chow, Carrie E. Bearden +27 more

Microduplications of 16p11.2 are associated with schizophrenia

UNC Libraries(2020)10.17615/zwts-m549

N/A

0DataRank · unranked

0 citations

Jaya Ganesh, Detelina Grozeva, Vladimir Makarov, Abhishek Bhandari, Ravinesh A. Kumar +27 more

Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes

UNC Libraries(2020)10.17615/5188-7m66

N/A

0DataRank · unranked

0 citations

Donna M. McDonald‐McGinn, Mauricio Arcos‐Burgos, Lina M. Moreno, Andrew C. Lidral, Michel Bahuau +21 more

A dyadic approach to the delineation of diagnostic entities in clinical genomics

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2020.11.013

N/A

0DataRank · unranked

116 citations

Margaret P Adam, Fowzan S. Alkuraya, Anne Amemiya, Michael J. Bamshad, Anita E. Beck +42 more

Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot

Genetics in Medicine(2021)10.1038/s41436-021-01212-y

N/A

0DataRank · unranked

17 citations

Najim Lahrouchi, Fernanda M. Bosada, Gregor Dombrowsky, Simon G. Williams, Robert Lesurf +49 more

Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.05.010

N/A

0DataRank · unranked

21 citations

Andrew C. Edmondson, Sandrine Duvet, Michael March, Ana Berta Sousa, Anna Lehman +23 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

Platelet findings in 22q11.2 deletion syndrome correlate with disease manifestations but do not correlate with GPIb surface expression

Clinical Genetics(2022)10.1111/cge.14227

N/A

0DataRank · unranked

9 citations

T. Blaine Crowley, Chintan Jobaliya, Alice Bailey, Daniel E. McGinn, Kimberly Gaiser +10 more

Influence of Parent-of-Origin on Intellectual Outcomes in the Chromosome 22q11.2 Deletion Syndrome

Genes(2022)10.3390/genes13101800

N/A

0DataRank · unranked

4 citations

T. Blaine Crowley, Tracy Heung, Oanh Tran, Edward Moss, Elaine H. Zackai +7 more

A Novel Non-Allelic Homologous Recombination Event in a Parent with an 11;22 Reciprocal Translocation Leading to 22q11.2 Deletion Syndrome

Genes(2022)10.3390/genes13091668

N/A

0DataRank · unranked

1 citations

Oanh Tran, Daniel E. McGinn, T. Blaine Crowley, Elaine H. Zackai, Donna M. McDonald‐McGinn +2 more

Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS and sporadic congenital heart disease

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.09.30.507111

N/A

0DataRank · unranked

0 citations

Yujue Wang, Lijie Shi, Donna M. McDonald‐McGinn, T. Blaine Crowley, Daniel E. McGinn +45 more

Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age

American Journal of Obstetrics and Gynecology(2023)10.1016/j.ajog.2023.09.005

N/A

0DataRank · unranked

15 citations

Stephanie Galloway, T. Blaine Crowley, Julie S. Moldenhauer, Ann Swillen, Jeroen Breckpot +57 more

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63247

N/A

0DataRank · unranked

41 citations

Justin Blair, Batsal Devkota, Sierra Fortunato, Dinah Clark, Audrey Lawrence +92 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

0DataRank · unranked

25 citations

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

Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS

npj Genomic Medicine(2023)10.1038/s41525-023-00363-y

N/A

0DataRank · unranked

12 citations

Yujue Wang, Lijie Shi, Donna M. McDonald‐McGinn, T. Blaine Crowley, Daniel E. McGinn +47 more

Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of PIK3CA

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63385

N/A

0DataRank · unranked

7 citations

Lydia S. Williams, Niambi Brewer, Lea F. Surrey, Abhay Srinivasan, Dong Li +14 more

Immunologic, Molecular, and Clinical Profile of Patients with Chromosome 22q11.2 Duplications

Journal of Clinical Immunology(2023)10.1007/s10875-023-01443-5

N/A

0DataRank · unranked

8 citations

Daniel E. McGinn, T. Blaine Crowley, Victoria Giunta, Kimberly Gaiser, Elaine H. Zackai +8 more

Dominant-negative variants in CBX1 cause a neurodevelopmental disorder

Genetics in Medicine(2023)10.1016/j.gim.2023.100861

N/A

0DataRank · unranked

7 citations

Aiko Iwata‐Otsubo, Kerith‐Rae Dias, Suzanna E.L. Temple, Koji Nagao, Lachlan De Hayr +28 more

TOPORS as a novel causal gene for Joubert syndrome

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63303

N/A

0DataRank · unranked

6 citations

Hui‐Qi Qu, Sinéad Cullina, Morgan L. McManus, Elaine H. Zackai, Joseph Glessner +3 more

Risk of meningomyelocele mediated by the common 22q11.2 deletion

Science(2024)10.1126/science.adl1624

N/A

0DataRank · unranked

21 citations

Sangmoon Lee, Kit Sing Au, T. Blaine Crowley, Valeria Capra, Meade Haller +74 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

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

0DataRank · unranked

5 citations

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

Optical mapping in Black genomes: Distinct LCR22 structures and 22q11.2 deletion syndrome mechanisms

Genetics in Medicine(2025)10.1016/j.gim.2025.101614

N/A

0DataRank · unranked

2 citations

Oanh Tran, Ryan Lapointe, Arnold Z. Olali, Douglas C. Wallace, Bernice Morrow +4 more

ZNF280A links DNA double-strand break repair to human 22q11.2 distal deletion syndrome

Nature Cell Biology(2025)10.1038/s41556-025-01674-1

N/A

0DataRank · unranked

2 citations

Hyo Min Cho, Ilaria Ceppi, Boya Gao, Tribhuwan Yadav, Giórgia Gobbi da Silveira +22 more

Management and Outcomes of Neonates with Treacher Collins and Nager Syndromes

The Journal of Pediatrics(2025)10.1016/j.jpeds.2025.114614

N/A

0DataRank · unranked

0 citations

K. Taylor Wild, Isabella Zaniletti, Elaine H. Zackai, Janet Lioy, Cory M. Resnick +11 more

Prevalence and spectrum of congenital heart disease in individuals with distal chromosome 22q11.22-23 deletions

medRxiv(2025)10.1101/2025.10.15.25337915

N/A

0DataRank · unranked

0 citations

Daniel E. McGinn, T. Blaine Crowley, Lydia Rockart, Audrey Green, Victoria Giunta +18 more

Prevalence and Spectrum of Congenital Heart Disease in Individuals With Distal Chromosome 22q11.22–23 Deletions

Clinical Genetics(2025)10.1111/cge.70118

N/A

0DataRank · unranked

0 citations

Daniel E. McGinn, T. Blaine Crowley, Lydia Rockart, Audrey Green, Victoria Giunta +18 more

Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion

Molecular Psychiatry(2020)10.1038/s41380-020-0654-3

N/A

0DataRank · unranked

136 citations

Worrawat Engchuan, Matthew S. Hestand, Tracy Heung, Aaron M. Holleman, H. Richard Johnston +95 more

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

Science Advances(2020)10.1126/sciadv.abc9207

N/A

0DataRank · unranked

99 citations

Dong Li, Samuel G. Cox, Dylan M. Marchione, Evan F. Joiner, Khadija Wilson +95 more

Loss‐of‐function of Endothelin receptor type A results in Oro‐Oto‐Cardiac syndrome

American Journal of Medical Genetics Part A(2020)10.1002/ajmg.a.61531

N/A

0DataRank · unranked

13 citations

Stanley M. Kanai, Bryan L. Krock, Erica Schindewolf, Jennifer Oliver‐Krasinski, Nahla Khalek +6 more

Elaine H. Zackai

Indexed papers

Top data-sharing exemplar

Papers