The Training and Development Committee of the American Society of Human Genetics is pleased to announce the ASHG Trainee Paper Spotlight, a feature that will highlight outstanding papers written by trainee members. A new Spotlight will be posted to the ASHG Trainee Forum the last Wednesday of each month on a quarterly basis.

Papers are a great feature on your CV. Add your updated resume or CV to the Career Center.

ASHG Career Center

Join the ASHG Trainee Forum:

Emily Davenport - Cornell University (leader)

Grace Kwon - University of Connecticut, The Jackson Laboratory for Genomic Medicine

Mila Mirceta - Hospital for Sick Children, University of Toronto


Yuetiva (Deming) Robles, PhD

October 24, 2019

The MS4A Gene Cluster is a Key Modulator of Soluble TREM2 and Alzheimer’s Disease Risk

Raluca Nicoli, PhD

September 24, 2019

Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification

Eligibility for Nomination

  • The nominee must be a current calendar year trainee member of ASHG (please check here).
  • The nominee must be the first author of the nominated paper (co-first author is acceptable). Self-nominations are eligible.
  • The nominated paper must have been published within the last year.

Please complete the form below to nominate an outstanding trainee research paper. We recognize that there are many subfields in human genetics and welcome nomination of good, peer-reviewed papers regardless of where they are published.


Past Trainee Paper Spotlights are available to browse by topic category.

Masoud Zamani Esteki, PhD
November 25, 2015
Concurrent whole-genome haplotyping and copy-number profiling of single cells.

Alexis Norris, PhD
April 27, 2016
Nanopore sequencing detects structural variants in cancer.

Gaia Andreoletti, PhD
February 6, 2018
De novo and rare mutations in the HSPA1L heat shock gene associated with inflammatory bowel disease.

Ryan Collins, AB
April 12, 2018
Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome.

Kevin Gillinder, PhD
July 13, 2018
Promiscuous DNA-binding of a mutant zinc finger protein corrupts the transcriptome and diminishes cell viability.

Taylor Mighell
June 12, 2019
A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships

Christoph Nowak, BM BCh(Oxon.), Dipl.-Psych.
January 27, 2016
Protein biomarkers for insulin resistance and type 2 diabetes risk in two large community cohorts.

Ma'en Obiedat
February 24, 2016
Molecular mechanisms underlying variations in lung function: a systems genetics analysis.

Ame De Roeck
April 11, 2019
An Intronic VNTR Affects Splicing of ABCA7 and Increases Risk of Alzheimer’s Disease

Michael Gallagher, PhD
December 12, 2018
A Dementia-Associated Risk Variant Near TMEM106B Alters Chromatin Architecture and Gene Expression

Eirini Marouli, PhD
November 20, 2018
Rare and Low-Frequency Coding Variants Alter Human Adult Height

Omer Weissbrod, PhD
January 11, 2019
Environment Dominates Over Host Genetics in Shaping Human Gut Microbiota

Joseph Alaimo, PhD
August 31, 2016
LCopy Number Loss Upstream of RAI1 Uncovers Gene Expression Regulatory Region That May Impact Potocki-Lupski Syndrome Diagnosis.

Bárbara Domingues Bitarello, PhD
May 13, 2019
Signatures of Long-Term Balancing Selection in Human Genomes

Zafar Iqbal, PhD
May 14, 2018
Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.

Luca Pagani, PhD
October 28, 2015
Tracing the Route of Modern Humans out of Africa by Using 225 Human Genome Sequences from Ethiopians and Egyptians.

Ajai K. Pathak
August 21, 2019
The Genetic Ancestry of Modern Indus Valley Populations from Northwest India.

Tanya Phung
November 18, 2016
Determining the Effect of Natural Selection on Linked Neutral Divergence across Species.

Ariel F. Martinez, PhD, MB (ASCP)
September 13, 2018
An Ultraconserved Brain-Specific Enhancer Within ADGRL3 (LPHN3) Underpins Attention-Deficit/Hyperactivity Disorder Susceptibility.

Salman Tajuddin, MD, PhD
July 27, 2016
Large-Scale Exome-wide Association Analysis Identifies Loci for White Blood Cell Traits and Pleiotrophy with Immune-Mediated Diseases.

Lise Barbé, PhD
August 7, 2017
CpG methylation, a parent-of-origin effect for maternal-biased transmission of congenital myotonic dystrophy.

Jessica Chong, PhD
September 30, 2015
De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay.

Saumya Jamuar, PhD
February 12, 2019
Biallelic Mutations in Human DCC Cause Developmental Split-Brain Syndrome

Johanna Känsäkoski
August 10, 2017
Complete androgen insensitivity syndrome caused by a deep intronic pseudoexon-activating mutation in the androgen receptor gene.

Alina Kurolap
June 13, 2018
Loss of glycine transporter 1 causes a subtype of glycine encephalopathy with arthrogryposis and mildly elevated cerebrosipinal fluid glycine.

Yong Lei, PhD
March 12, 2019
Targeted DNA Methylation In Vivo Using An Engineered dCas9-MQ1 Fusion Protein

Sureni Mullegama, PhD
February 14, 2017
Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND).

Janson White
August 14, 2018
WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.

Julie Craft Van De Weghe, PhD
October 12, 2018
Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish

Ling-shiang Chuang, PhD
February 13, 2018
A Frameshift in CSF2RB Predominant Among Ashkenazi Jews Increases Risk for Crohn’s Disease and Reduces Monocyte Signaling via GM-CSF.

Douglas Dluzen, PhD
May 1, 2017
Racial differences in microRNA and gene expression in hypertensive women.

David Soave, MSc
December 30, 2015
A Joint Location-Scale Test Improves Power to Detect Associated SNPs, Gene Sets, and Pathways.

Cassandra N. Spracklen, PhD
November 9, 2017
Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.

Folefac Aminkeng
June 29, 2016
A Coding Variant in RARG Confers Susceptibility to Anthracycline-Induced Cardiotoxicity in Childhood Cancer.

Daria Wojtal
March 30, 2016
Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited Disorders.