2026 Elaine H. Zackai: Genetics Researcher – H-Index, Publications & Awards

Discipline name	D-Index	World Ranking	Current World Ranking	National Ranking	Current National Ranking	Publications	Citations
Best Female Scientists	122	502	478	295	278	745	54557
Genetics	123	333	322	173	167	635	54554
Medicine	126	2962	2764	1641	1510	740	58543

Research.com Recognitions

2025 - Research.com Best Female Scientists Award

Overview

Elaine H. Zackai is affiliated with the Children's Hospital of Philadelphia in the United States. Their research primarily spans the fields of Biochemistry, Genetics and Molecular Biology, and Medicine, with significant contributions in Molecular Biology, Genetics, Pulmonary and Respiratory Medicine, Epidemiology, and Surgery.

The scientist's research focuses on topics including congenital heart defects, congenital heart disease studies, genomic variations and chromosomal abnormalities, coronary artery anomalies, genetics and neurodevelopmental disorders, genomics and rare diseases, and tracheal and airway disorders.

Elaine H. Zackai has published extensively, with work appearing frequently in several journals. The most frequent publication venues include:

American Journal of Medical Genetics Part A
Genetics in Medicine
Genetics in Medicine Open
bioRxiv (Cold Spring Harbor Laboratory)
The American Journal of Human Genetics

Some recent papers authored by or involving Elaine H. Zackai are:

Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion, 2020, Molecular Psychiatry
A dyadic approach to the delineation of diagnostic entities in clinical genomics, 2021, The American Journal of Human Genetics
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients, 2020, Science Advances
Mapping Subcortical Brain Alterations in 22q11.2 Deletion Syndrome: Effects of Deletion Size and Convergence With Idiopathic Neuropsychiatric Illness, 2020, American Journal of Psychiatry
Effects of copy number variations on brain structure and risk for psychiatric illness: Large-scale studies from the ENIGMA working groups on CNVs, 2021, Human Brain Mapping

The scientist has frequently collaborated with a number of co-authors, notably:

Donna M. McDonald-McGinn
T. Blaine Crowley
Beverly S. Emanuel
Daniel E. McGinn
Elizabeth Bhoj

Best Publications

22q11.2 deletion syndrome

Donna M. McDonald-McGinn;Kathleen E. Sullivan;Bruno Marino;Nicole Philip

1968
Citations
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes.

Shinji Kondo;Brian C. Schutte;Rebecca J. Richardson;Bryan C. Bjork

1051
Citations
A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome

Marjorie J Lindhurst;Julie C Sapp;Jamie K. Teer;Jennifer J Johnston

947
Citations
Microduplications of 16p11.2 are Associated with Schizophrenia

Shane E. McCarthy;Vladimir Makarov;George Kirov;Anjene M. Addington

845
Citations
Psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome: results from the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome.

Maude Schneider;Martin Debbané;Anne S. Bassett;Eva W.C. Chow

814
Citations
PTEN Mutation Spectrum and Genotype-Phenotype Correlations in Bannayan-Riley-Ruvalcaba Syndrome Suggest a Single Entity With Cowden Syndrome

Debbie J. Marsh;Debbie J. Marsh;Jennifer B. Kum;Jennifer B. Kum;Kathryn L. Lunetta;Michael J. Bennett

667
Citations
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

Santhosh Girirajan;Jill A. Rosenfeld;Gregory M. Cooper;Francesca Antonacci

655
Citations
Frequency of 22q11 deletions in patients with conotruncal defects

Elizabeth Goldmuntz;Bernard J Clark;Bernard J Clark;Laura E Mitchell;Laura E Mitchell;Abbas F Jawad;Abbas F Jawad

655
Citations
Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis

Tamim H. Shaikh;Hiroki Kurahashi;Sulagna C. Saitta;Anna Mizrahy O’Hare

647
Citations
Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis.

D A Driscoll;J Salvin;B Sellinger;M L Budarf

568
Citations
Growth Charts for Children With Down Syndrome: 1 Month to 18 Years of Age

Christine Cronk;Allen C. Crocker;Siegfried M. Pueschel;Alice M. Shea

526
Citations
The Philadelphia story: the 22q11.2 deletion: report on 250 patients

McDonald-McGinn Dm;Kirschner R;Goldmuntz E;Sullivan K

520
Citations
Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis

Laura K. Conlin;Brian D. Thiel;Carsten G. Bonnemann;Livija Medne

488
Citations
Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome.

Deborah A. Driscoll;Nancy B. Spinner;Nancy B. Spinner;Marcia L. Budarf;Marcia L. Budarf;Donna M. McDonald-McGinn;Donna M. McDonald-McGinn

475
Citations
Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly.

Deeann E. Wallis;Erich Roessler;Erich Roessler;Ute Hehr;Luisa Nanni

470
Citations
Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome.

Elisabeth Trivier;Dario De Cesare;Sylvie Jacquot;Solange Pannetier

466
Citations
Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination

Karen W. Gripp;David Wotton;Michael C. Edwards;Michael C. Edwards;Erich Roessler

453
Citations
Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype.

Lorraine Potocki;Weimin Bi;Diane Treadwell-Deering;Claudia M. B. Carvalho

449
Citations
High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications

Tamim H. Shaikh;Xiaowu Gai;Juan C. Perin;Joseph T. Glessner

429
Citations
Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations.

Paweł Stankiewicz;Partha Sen;Samarth S. Bhatt;Mekayla Storer

428
Citations

Frequent Co-Authors

Donna M. McDonald-McGinn Children's Hospital of Philadelphia

Beverly S. Emanuel Children's Hospital of Philadelphia

Nancy B. Spinner Children's Hospital of Philadelphia

Raquel E. Gur University of Pennsylvania

Matthew A. Deardorff Children's Hospital of Philadelphia

Maximilian Muenke American College of Medical Genetics

Ruben C. Gur University of Pennsylvania

Hakon Hakonarson Children's Hospital of Philadelphia

Tony J. Simon University of California, Davis

Tamim H. Shaikh University of Colorado Denver

External Links

Personal website of Elaine H. Zackai

If you think any of the details on this page are incorrect, let us know.

Related Online Degrees & Career Pathways

If you are considering a degree in Genetics, there are many related online programs and career paths in the healthcare field to explore. Popular options include nursing and advanced practice roles, which can be a practical fit for those interested in genetics and patient care.

Online nursing degrees offer flexible learning while preparing graduates for rewarding roles. For example, many opt for affordable online nursing programs to earn their initial RN credentials. Afterward, you can advance your qualifications with the cheapest rn to bsn programs, gaining wider opportunities in healthcare settings.

Those interested in specialized or leadership roles may explore the cheapest np school options for nurse practitioner pathways, or consider doctoral training through the cheapest online dnp programs. These advanced degrees often integrate genetics and genomics, providing pathways for roles in research, education, and clinical leadership.

For those seeking guidance, compare programs for the affordable online nursing programs that best match your interests. No matter your background, a degree related to Genetics can help shape an innovative and impactful career in healthcare.