Publications by authors named "Jennifer Heeley"

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Reference Growth Charts for Children With 47,XXY/Klinefelter Syndrome.
Shanlee M Davis, Taylor E Marshall, Karli S Swenson, Samantha Bothwell, Natalie J Nokoff, Jennifer Heeley

Pediatrics· December 2025

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Genetics and Primary Care: Raising Awareness and Enhancing Cooperation.
Ecenur Tuc Bengur, Jennifer Heeley

Mo Med· November 2024

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TELO2-related syndrome (You-Hoover-Fong syndrome): Description of 14 new affected individuals and review of the literature.
Daniah Albokhari, Amanda Barone Pritchard, Adelyn Beil, Candace Muss, Caleb Bupp, Jennifer Heeley

Am J Med Genet A· May 2023

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Best Practices for Virtual Care: A Consensus Statement From the Canadian Rheumatology Association.
Claire E H Barber, Deborah M Levy, Vandana Ahluwalia, Arielle Mendel, Regina Taylor-Gjevre, Jennifer Heeley

J Rheumatol· April 2022

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De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy.
Jonathan Humbert, Smrithi Salian, Periklis Makrythanasis, Gabrielle Lemire, Justine Rousseau, Jennifer Heeley

Am J Hum Genet· September 2020

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Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.
Laura Castilla-Vallmanya, Kaja K Selmer, Clémantine Dimartino, Raquel Rabionet, Bernardo Blanco-Sánchez, Jennifer Heeley

Genet Med· July 2020

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Mobile element insertion detection in 89,874 clinical exomes.
Rebecca I Torene, Kevin Galens, Shuxi Liu, Kevin Arvai, Carlos Borroto, Jennifer Heeley

Genet Med· May 2020

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Clinical and genetic characterization of individuals with predicted deleterious variants.
Kirsten E Craddock, Volkan Okur, Ashley Wilson, Erica H Gerkes, Keri Ramsey, Jennifer M Heeley

Cold Spring Harb Mol Case Stud· August 2019

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Missense variants in the chromatin remodeler are associated with neurodevelopmental disability.
Genay O Pilarowski, Hilary J Vernon, Carolyn D Applegate, Leandros Boukas, Megan T Cho, Jennifer M Heeley

J Med Genet· August 2018

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Risk association of congenital anomalies in patients with ambiguous genitalia: A 22-year single-center experience.
Jennifer M Heeley, Abby S Hollander, Paul F Austin, Diane F Merritt, Victoria G Wesevich

J Pediatr Urol· April 2018

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WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.
Janson J White, Juliana F Mazzeu, Zeynep Coban-Akdemir, Yavuz Bayram, Vahid Bahrambeigi, Jennifer Heeley

Am J Hum Genet· January 2018

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The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies.
Wei Shen, Jennifer M Heeley, Colleen M Carlston, Rocio Acuna-Hidalgo, Willy M Nillesen

Am J Med Genet A· November 2017

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The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.
Dustin Baldridge, Jennifer Heeley, Marisa Vineyard, Linda Manwaring, Tomi L Toler

Genet Med· September 2017

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Integrated small copy number variations and epigenome maps of disorders of sex development.
Ina E Amarillo, Isabelle Nievera, Andrew Hagan, Vishwa Huchthagowder, Jennifer Heeley

Hum Genome Var· June 2016

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Multi-systemic involvement in NGLY1-related disorder caused by two novel mutations.
Jennifer Heeley, Marwan Shinawi

Am J Med Genet A· April 2015

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TRAIL and KILLER are expressed and induce apoptosis in the murine preimplantation embryo.
Joan K Riley, Jennifer M Heeley, Amanda H Wyman, Elizabeth L Schlichting, Kelle H Moley

Biol Reprod· September 2004

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