Scholars@Duke
Jennifer L. Cohen

Jennifer L. Cohen

Associate Professor of Pediatrics
Pediatrics, Medical Genetics

Selected Publications

Cell-specific expression biases in human cortex of genes associated with neurodevelopmental disorders.

Journal Article Sci Rep · July 2, 2025 Up to one third of congenital brain malformations and neurodevelopmental disorders are attributable to single-gene pathogenic variants, and yet we have little understanding of the cellular pathophysiology in the nervous system that arises from these varian ... Full text Link to item Cite

Advancing precision care in pregnancy through a treatable fetal findings list.

Journal Article Am J Hum Genet · June 5, 2025 The use of genomic sequencing (GS) for prenatal diagnosis of fetuses with sonographic abnormalities has grown tremendously over the past decade. Fetal GS also offers an opportunity to identify incidental genomic variants that are unrelated to the fetal phe ... Full text Link to item Cite

Fetal malformations of cortical development: review and clinical guidance.

Journal Article Brain · June 3, 2025 Malformations of cortical development (MCDs) are a heterogeneous family of congenital brain malformations that originate from disturbed development of the cerebral cortex. MCDs can arise from primary genetic disorders that lead to dysfunction of the molecu ... Full text Link to item Cite

Prenatal Delivery of Enzyme Replacement Therapy to Fetuses Affected by Early-Onset Lysosomal Storage Diseases

Journal Article American Journal of Medical Genetics Part C Seminars in Medical Genetics · January 1, 2025 The expansion of prenatal genetic screening and diagnosis warrants the evaluation of approved postnatal therapies that may be safely and feasibly translated to prenatal administration to a fetus affected by monogenic disease. For lysosomal storage diseases ... Full text Cite

Institutional readiness for novel therapeutics: A framework for multidisciplinary integration.

Journal Article Mol Genet Metab · 2025 The landscape of therapeutic options for rare diseases is rapidly expanding, including a range of novel treatments such as antisense oligonucleotides, enzyme replacement therapies, targeted small molecules, mRNA, and gene replacement therapies. The integra ... Full text Link to item Cite

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

Journal Article Prenatal Diagnosis · January 1, 2025 In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision-making by supporting risk stratification ... Full text Cite

Extrauterine support of pre-term lambs achieves similar transcriptomic profiling to late pre-term lamb brains.

Journal Article Sci Rep · November 21, 2024 Our group has developed an extra-uterine environment for newborn development (EXTEND) using an ovine model, that aims to mimic the womb to improve short and long-term health outcomes associated with prematurity. This study's objective was to determine the ... Full text Link to item Cite

Identifying associations between genetic conditions in offspring and pregnancy health complications

Journal Article Reproductive, Female and Child Health · June 2024 AbstractBackgroundPrior research has identified associations between pregnancy complications and specific genetic diagnoses in ... Full text Cite

Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.

Journal Article NPJ Genom Med · March 1, 2024 CELSR3 codes for a planar cell polarity protein. We describe twelve affected individuals from eleven independent families with bi-allelic variants in CELSR3. Affected individuals presented with an overlapping phenotypic spectrum comprising central nervous ... Full text Link to item Cite

Intrauterine enzyme replacement therapies for lysosomal storage disorders: Current developments and promising future prospects.

Journal Article Prenat Diagn · December 2023 Lysosomal storage disorders (LSDs) are a group of monogenic condition, with many characterized by an enzyme deficiency leading to the accumulation of an undegraded substrate within the lysosomes. For those LSDs, postnatal enzyme replacement therapy (ERT) r ... Full text Link to item Cite

Novel association of Dandy-Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome.

Journal Article Am J Med Genet A · November 2023 Oculogastrointestinal neurodevelopmental syndrome has been described in seven previously published individuals who harbor biallelic pathogenic variants in the CAPN15 gene. Biallelic missense variants have been reported to demonstrate a phenotype of eye abn ... Full text Link to item Cite

PRDM16 Deletion Is Associated With Sex-dependent Cardiomyopathy and Cardiac Mortality: A Translational, Multi-Institutional Cohort Study.

Journal Article Circ Genom Precis Med · August 2023 BACKGROUND: 1p36 deletion syndrome can predispose to pediatric-onset cardiomyopathy. Deletion breakpoints are variable and may delete the transcription factor PRDM16. Early studies suggest that deletion of PRDM16 may underlie cardiomyopathy in patients wit ... Full text Link to item Cite

Phase I study of liver depot gene therapy in late-onset Pompe disease.

Journal Article Mol Ther · July 5, 2023 Gene therapy with an adeno-associated virus serotype 8 (AAV8) vector (AAV8-LSPhGAA) could eliminate the need for enzyme replacement therapy (ERT) by creating a liver depot for acid α-glucosidase (GAA) production. We report initial safety and bioactivity of ... Full text Link to item Cite

In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe's Disease

Journal Article Obstetrical and Gynecological Survey · June 1, 2023 Full text Cite

Whole-genome sequencing holds the key to the success of gene-targeted therapies.

Journal Article Am J Med Genet C Semin Med Genet · March 2023 Rare genetic disorders affect as many as 3%-5% of all babies born. Approximately 10,000 such disorders have been identified or hypothesized to exist. Treatment is supportive except in a limited number of instances where specific therapies exist. Developmen ... Full text Link to item Cite

When is the best time to screen and evaluate for treatable genetic disorders?: A lifespan perspective.

Journal Article Am J Med Genet C Semin Med Genet · March 2023 This paper focuses on the question of, "When is the best time to identify an individual at risk for a treatable genetic condition?" In this review, we describe a framework for considering the optimal timing for pursuing genetic and genomic screening for tr ... Full text Link to item Cite

Assisted reproductive technology and association with childhood cancer subtypes.

Journal Article Cancer Med · February 2023 OBJECTIVES: To investigate the association between assisted reproductive technology (ART) use and childhood cancer subtype. STUDY DESIGN: We deployed a cross-sectional survey of 1701 parents of children with cancer about their ART use, demographics, and ge ... Full text Link to item Cite

In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe's Disease.

Journal Article N Engl J Med · December 8, 2022 Patients with early-onset lysosomal storage diseases are ideal candidates for prenatal therapy because organ damage starts in utero. We report the safety and efficacy results of in utero enzyme-replacement therapy (ERT) in a fetus with CRIM (cross-reactive ... Full text Link to item Cite

Rapid Whole Genome Sequencing in Critically Ill Neonates Enables Precision Medicine Pipeline.

Journal Article J Pers Med · November 18, 2022 Rapid genome sequencing in critically ill infants is increasingly identified as a crucial test for providing targeted and informed patient care. We report the outcomes of a pilot study wherein eight critically ill neonates received rapid whole genome seque ... Full text Link to item Cite

Novel PAX6 variant in a family with ophthalmologic, pancreatic, and olfactory features.

Journal Article Cold Spring Harb Mol Case Stud · January 2022 Variants in the PAX6 gene have been associated with ophthalmologic, neurologic, and pancreatic differences. We report on a proband, mother, and affected brother who presented with congenital cataracts and glaucoma at a young age. Nonocular findings are als ... Full text Link to item Cite

Development of a clinically validated in vitro functional assay to assess pathogenicity of novel GAA variants in patients with Pompe disease identified via newborn screening.

Journal Article Front Genet · 2022 Purpose: The addition of Pompe disease (Glycogen Storage Disease Type II) to the Recommended Uniform Screening Panel in the United States has led to an increase in the number of variants of uncertain significance (VUS) and novel variants identified in the ... Full text Link to item Cite

Hydrops fetalis-trends in associated diagnoses and mortality from 1997-2018.

Journal Article J Perinatol · October 2021 OBJECTIVES: To describe and evaluate trends in the etiology and mortality risk in neonates admitted for neonatal intensive care with hydrops fetalis. STUDY DESIGN: A retrospective review of de-identified patient data in the Pediatrix Clinical Data Warehous ... Full text Link to item Cite

Nonlethal presentations of CYP26B1-related skeletal anomalies and multiple synostoses syndrome.

Journal Article Am J Med Genet A · September 2021 Retinoic acid exposures as well as defects in the retinoic acid-degrading enzyme CYP26B1 have teratogenic effects on both limb and craniofacial skeleton. An initial report of four individuals described a syndrome of fetal and infantile lethality with crani ... Full text Link to item Cite

Assisted reproductive technology and association with childhood cancer subtypes

Journal Article · 2021 ABSTRACTObjectives Use of assisted reproductive technology (ART) may alter the typical course of fetal development. We sought to investigate the association between ART use and childhood cancer subtype. Study design We surveyed ... Full text Cite

EP300-related Rubinstein-Taybi syndrome: Highlighted rare phenotypic findings and a genotype-phenotype meta-analysis of 74 patients.

Journal Article Am J Med Genet A · December 2020 Pathogenic variants in the homologous and highly conserved genes-CREBBP and EP300-are causal for Rubinstein-Taybi syndrome (RSTS). CREBBP and EP300 encode histone acetyltransferases (HAT) that act as transcriptional co-activators, and their haploinsufficie ... Full text Link to item Cite

Genetic variation associated with childhood and adult stature and risk of MYCN-amplified neuroblastoma.

Journal Article Cancer Med · November 2020 BACKGROUND: Neuroblastoma is the most common pediatric solid tumor. MYCN-amplification is an important negative prognostic indicator and inherited genetic contributions to risk are incompletely understood. Genetic determinants of stature increase risk of s ... Full text Open Access Link to item Cite

The Utility of Early Tongue Reduction Surgery for Macroglossia in Beckwith-Wiedemann Syndrome

Journal Article Plastic & Reconstructive Surgery · April 2020 Background:Macroglossia, a cardinal feature of the (epi)genetic disorder Beckwith-Wiedemann syndrome, is associated with obstructive sleep apnea, speech and/or feeding difficulties, and d ... Full text Cite

Characterization of the Beckwith‐Wiedemann spectrum: Diagnosis and management

Journal Article American Journal of Medical Genetics Part C: Seminars in Medical Genetics · December 2019 AbstractBeckwith‐Wiedemann syndrome (BWS) is the most common epigenetic overgrowth and cancer predisposition disorder. Due to both varying molecular defects involving chromosome 11p15 and tissue mosaicism, patients can pres ... Full text Cite

Diagnosis and management of the phenotypic spectrum of twins with Beckwith‐Wiedemann syndrome

Journal Article American Journal of Medical Genetics Part A · July 2019 Featured Publication AbstractBeckwith‐Wiedemann syndrome (BWS) is an overgrowth disorder with a heterogeneous phenotypic spectrum. There is an increased prevalence of monozygotic twinning in BWS. Given the epigenetic nature and phenotypic spect ... Full text Cite

Failure to Thrive: An Expanded Differential Diagnosis

Journal Article Journal of Pediatric Genetics · March 2019 AbstractThe patient is a term 6-month-old male, who presented with failure to thrive since birth. History was remarkable for suspected milk and soy protein allergy, gastroesophageal reflux, constipation, and abdominal diste ... Full text Cite

22q and two: 22q11.2 deletion syndrome and coexisting conditions

Journal Article American Journal of Medical Genetics Part A · October 2018 22q11.2 deletion syndrome (DS) is the most frequent copy number variant (CNV) affecting ~1/1,000 fetuses and ~1/2,000–4,000 children, resulting in recognizable but variable findings across multiple organ systems. Patients with atypical features sho ... Full text Cite

Predictive value of combined serum biomarkers for adverse pregnancy outcomes

Journal Article European Journal of Obstetrics & Gynecology and Reproductive Biology · October 2014 Full text Cite

Risk factors for new-onset late postpartum preeclampsia in women without a history of preeclampsia

Journal Article American Journal of Obstetrics and Gynecology · April 2014 Full text Cite