Publications by authors named "Allen Bale"

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Clinical practice guidelines for the management of basal cell carcinoma in Gorlin syndrome.
Brian A Cahn, Runze Zhang, Allie M Sidwell, Christie Mena Adam, Jessica Tiv, Allen E Bale

J Am Acad Dermatol· October 2025

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Rare variants in the melanocortin 4 receptor gene (MC4R) are associated with abdominal fat and insulin resistance in youth with obesity.
Brittany Galuppo, Prabhath Mannam, Jacopo Bonet, Bridget Pierpont, Domenico Trico', Allen E Bale

Int J Obes (Lond)· May 2025

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The challenges and opportunities of offering and integrating training in clinical molecular genetics and clinical cytogenetics: A survey of LGG Fellowship Program Directors.
Joshua L Deignan, Vimla Aggarwal, Allen E Bale, Daniel B Bellissimo, Jessica K Booker

Genet Med Open· February 2024

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Hepatology Genome Rounds: An interdisciplinary approach to integrate genomic data into clinical practice.
David H Chung, Melanie Zheng, Allen E Bale, Sílvia Vilarinho

J Hepatol· October 2023

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Advancing diagnosis and management of liver disease in adults through exome sequencing.
Melanie Zheng, Aaron Hakim, Chigoziri Konkwo, Aimee M Deaton, Lucas D Ward, Allen Bale

EBioMedicine· September 2023

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A De Novo Deleterious Variant Without Clinical Features of X-Linked Hypophosphatemia.
Michelle Kayser, Preti Jain, Allen Bale, Thomas O Carpenter

JCEM Case Rep· September 2023

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kyphoscoliotic Ehlers-Danlos syndrome misdiagnosed as Larsen syndrome: a case report.
Amy Wiegand, Rama Kastury, Arpita Neogi, Arya Mani, Allen Bale

Cold Spring Harb Mol Case Stud· June 2023

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A retrospective cohort analysis of the Yale pediatric genomics discovery program.
Samir Al-Ali, Lauren Jeffries, E Vincent S Faustino, Weizhen Ji, Emily Mis, Allen Bale

Am J Med Genet A· October 2022

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Detecting regions of homozygosity improves the diagnosis of pathogenic variants and uniparental disomy in pediatric patients.
Jiadi Wen, Hongyan Chai, Brittany Grommisch, Autumn DiAdamo, Daniel Dykas, Allen Bale

Am J Med Genet A· June 2022

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D-bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemia.
Kelly M Werner, Allison J Cox, Emily Qian, Preti Jain, Weizhen Ji, Allen Bale

Am J Med Genet A· January 2022

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A novel mutation linking pyoderma gangrenosum and common variable immunodeficiency.
Qisi Sun, Jeff R Gehlhausen, Marianna Freudzon, Nour Kibbi, Allen Bale

JAAD Case Rep· December 2021

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A case of acute myeloid leukemia with unusual germline mutation: lessons learned about mutation detection, location, and penetrance.
Hadrian Mendoza, Po-Han Chen, Alexander B Pine, Alexa J Siddon, Allen E Bale

Leuk Lymphoma· May 2021

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Rho-GTPase Activating Protein myosin MYO9A identified as a novel candidate gene for monogenic focal segmental glomerulosclerosis.
Qi Li, Ashima Gulati, Mathieu Lemaire, Timothy Nottoli, Allen Bale

Kidney Int· May 2021

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Detection of cytogenomic abnormalities by OncoScan microarray assay for products of conception from formalin-fixed paraffin-embedded and fresh fetal tissues.
Jiadi Wen, Brittany Grommisch, Autumn DiAdamo, Hongyan Chai, Sok Meng Evelyn Ng, Allen Bale

Mol Cytogenet· April 2021

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Exome sequencing analysis on products of conception: a cohort study to evaluate clinical utility and genetic etiology for pregnancy loss.
Chen Zhao, Hongyan Chai, Qinghua Zhou, Jiadi Wen, Uma M Reddy, Allen E Bale

Genet Med· March 2021

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A Novel Variant in the Calcium-Sensing Receptor Associated with Familial Hypocalciuric Hypercalcemia and Low-to-Normal PTH.
Sachin K Majumdar, Tess Jacob, Allen Bale, Allison Bailey, Jeffrey Kwon

Case Rep Endocrinol· September 2020

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COVID-19 outcomes and the human genome.
Michael F Murray, Eimear E Kenny, Marylyn D Ritchie, Daniel J Rader, Allen E Bale

Genet Med· July 2020

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A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death.
Brent A Penque, Leila Su, Jianghai Wang, Weizhen Ji, Allen Bale

Eur J Med Genet· November 2019

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A Retrospective Analysis of 10-Year Data Assessed the Diagnostic Accuracy and Efficacy of Cytogenomic Abnormalities in Current Prenatal and Pediatric Settings.
Hongyan Chai, Autumn DiAdamo, Brittany Grommisch, Fang Xu, Qinghua Zhou, Allen Bale

Front Genet· November 2019

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Two siblings with a novel nonsense variant provide further delineation of the spectrum of recessive KLHL7 diseases.
Lauren Jeffries, Jordan E Olivieri, Weizhen Ji, Michele Spencer-Manzon, Allen Bale

Eur J Med Genet· September 2019

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Clinical utility of genomic analysis in adults with idiopathic liver disease.
Aaron Hakim, Xuchen Zhang, Angela DeLisle, Elif A Oral, Daniel Dykas, Allen Bale

J Hepatol· June 2019

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Genes Associated with Thoracic Aortic Aneurysm and Dissection: 2019 Update and Clinical Implications.
Thais Faggion Vinholo, Adam J Brownstein, Bulat A Ziganshin, Mohammad A Zafar, Helena Kuivaniemi, Allen E Bale

Aorta (Stamford)· June 2019

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A NOVEL MUTATION IN CALCIUM-SENSING RECEPTOR PRESENTING AS FAMILIAL HYPOCALCIURIC HYPERCALCEMIA IN A YOUNG MAN.
Parvathy Madhavan, Thi Hong Van Do, Allen Bale, Sachin Majumdar

AACE Clin Case Rep· March 2019

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Global gene expression of histologically normal primary skin cells from BCNS subjects reveals "single-hit" effects that are influenced by rapamycin.
Amruta Phatak, Mohammad Athar, James A Crowell, David Leffel, Brittney-Shea Herbert, Allen E Bale

Oncotarget· February 2019

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Genes Associated with Thoracic Aortic Aneurysm and Dissection: 2018 Update and Clinical Implications.
Adam J Brownstein, Valentyna Kostiuk, Bulat A Ziganshin, Mohammad A Zafar, Helena Kuivaniemi, Allen E Bale

Aorta (Stamford)· February 2018

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