Elaine H. Zackai

Elaine H. Zackai publication distribution in Genetics in 2026

The chart shows the distribution of publications by all Research.com ranked scientists in the field of Genetics in 2026. The highlighted bar marks where Elaine H. Zackai sits on this spectrum.

Elaine H. Zackai D-index placement in Genetics in 2026

The chart shows the D-index (discipline H-index) distribution of Genetics scientists ranked by Research.com in 2026. The highlighted bar marks where Elaine H. Zackai sits on this spectrum.

Research.com Recognitions

• 2025 - Research.com Best Female Scientists Award

Overview

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