Publications by authors named "Joan Stoler"

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Genetic Evaluation of the Child With Intellectual Disability or Global Developmental Delay: Clinical Report.
Lance H Rodan, Joan Stoler, Emily Chen, Timothy Geleske,

Pediatrics· July 2025

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Regulatory elements in (7q21.3) locus contribute to genetic control of coronal nonsyndromic craniosynostosis and bone density-related traits.
Paola Nicoletti, Samreen Zafer, Lital Matok, Inbar Irron, Meidva Patrick, Joan Stoler

Genet Med Open· May 2024

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Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation.
Shreyas Bhat, Justine Rousseau, Coralie Michaud, Charles Marques Lourenço, Joan M Stoler

Am J Hum Genet· April 2024

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Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays.
Mythily Ganapathi, Leticia S Matsuoka, Michael March, Dong Li, Elly Brokamp, Joan M Stoler

Eur J Hum Genet· October 2023

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A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder.
Suma P Shankar, Kristin Grimsrud, Louise Lanoue, Alena Egense, Brandon Willis, Joan Stoler

Genet Med· October 2022

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A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder.
Suma P Shankar, Kristin Grimsrud, Louise Lanoue, Alena Egense, Brandon Willis, Joan Stoler

Genet Med· July 2022

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Health Supervision for Children and Adolescents With Down Syndrome.
Marilyn J Bull, Tracy Trotter, Stephanie L Santoro, Celanie Christensen, Randall W Grout, Joan M Stoler

Pediatrics· May 2022

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Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11.
Thomas A Ravenscroft, Jennifer B Phillips, Elizabeth Fieg, Sameer S Bajikar, Judy Peirce, Joan M Stoler

Genet Med· October 2021

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Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.
Sarah E Sheppard, Ian M Campbell, Margaret H Harr, Nina Gold, Dong Li, Joan Stoler

Am J Med Genet A· June 2021

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Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects.
Anna R Duncan, Antonio Vitobello, Stephan C Collins, Valerie E Vancollie, Christopher J Lelliott, Joan Stoler

Am J Hum Genet· December 2020

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A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.
Theodore G Drivas, Dong Li, Divya Nair, Joseph T Alaimo, Mariëlle Alders, Joan M Stoler

Eur J Hum Genet· October 2020

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Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield.
Cynthia S Gubbels, Grace E VanNoy, Jill A Madden, Deborah Copenheaver, Sandra Yang, Joan Stoler

Genet Med· April 2020

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Recent developments in fetal alcohol spectrum disorder.
Joshua J Baker, Joan M Stoler

Curr Opin Endocrinol Diabetes Obes· February 2020

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MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
Christopher C Y Mak, Dan Doherty, Angela E Lin, Nancy Vegas, Megan T Cho, Elliot Stolerman, Joan Stoler

Brain· January 2020

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Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing.
Chloe M Reuter, Jennefer N Kohler, Devon Bonner, Diane Zastrow, Liliana Fernandez, Joan Stoler

J Genet Couns· December 2019

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Updating the neurodevelopmental profile of Alazami syndrome: Illustrating the role of developmental assessment in rare genetic disorders.
Monica H Wojcik, Kate Linnea, Joan M Stoler, Leonard Rappaport

Am J Med Genet A· August 2019

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An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery.
Alireza Haghighi, Joel B Krier, Agnes Toth-Petroczy, Christopher A Cassa, Natasha Y Frank, Joan M Stoler

NPJ Genom Med· August 2018

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Utility of Genetic Testing in Fetal Alcohol Spectrum Disorder.
Saumya S Jamuar, Jonathan D Picker, Joan M Stoler

J Pediatr· May 2018

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Genetics and Metabolism.
Joan Stoler

Pediatr Ann· May 2018

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Prenatal and Postnatal Genetic Testing: Why, How, and When?
Joan M Stoler

Pediatr Ann· November 2017

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Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.
Christel Depienne, Caroline Nava, Boris Keren, Solveig Heide, Agnès Rastetter, Joan M Stoler

Hum Genet· April 2017

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Musculoskeletal Conditions in a Pediatric Population with Ehlers-Danlos Syndrome.
Courtney M Stern, Michael J Pepin, Joan M Stoler, Dennis E Kramer, Samantha A Spencer

J Pediatr· February 2017

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Pulmonary Vasculopathy Associated with FIGF Gene Mutation.
Evan Bailey, Ye Cui, Alicia Casey, Joan M Stoler, Xingbin Ai

Am J Pathol· January 2017

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Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures.
Almundher Al-Maawali, Brenda J Barry, Anna Rajab, Malak El-Quessny, Ann Seman, Joan M Stoler

Am J Med Genet A· February 2016

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De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay.
Hui Yang, Ganka Douglas, Kristin G Monaghan, Kyle Retterer, Megan T Cho, Joan Stoler

Cold Spring Harb Mol Case Stud· October 2015

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