Publications by authors named "Irman Forghani"

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Hypermobile Ehlers-Danlos Syndrome: Diagnostic Challenges and the Role of Genetic Testing.
Irman Forghani, Julia See, William C McGonigle

Genes (Basel)· April 2025

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Patient experiences of receiving a diagnosis of hypermobile Ehlers-Danlos syndrome.
Yun-Ting Wang, Shiva Jahani, Dayna Morel-Swols, Angelica Kapely, Ami Rosen, Irman Forghani

Am J Med Genet A· August 2024

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EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder.
Irman Forghani, Steven H Lang, Matthew J Rodier, Stephanie A Bivona,

Am J Med Genet A· June 2024

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Prevalence of cardiovascular manifestations in patients with hypermobile Ehlers-Danlos syndrome at the University of Miami.
Jariselle M Pietri-Toro, Olivia K Gardner, Jessica D Leuchter, Gabrielle DiBartolomeo, Juanita A Hunter, Irman Forghani

Am J Med Genet A· June 2023

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ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy.
Alyssa M Volmrich, Lauren M Cuénant, Irman Forghani, Sharon L Hsieh, Lauren T Shapiro

Appl Clin Genet· August 2022

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Molecular Modeling and Phenotypic Description of a Patient with a Novel Exonic Deletion of with Resultant Morquio Syndrome with Two Successful Pregnancies.
Pavalan Selvam, Angita Jain, Jessica Abbott, Abhimanyu S Ahuja, Anvir Cheema, Irman Forghani

Mol Syndromol· July 2022

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A novel pathogenic variant at the C-terminal propeptide cleavage site of COL1A1, causing osteogenesis imperfecta with intrafamilial variability.
Steven H Lang, Ryan A Gallo, Irman Forghani

Am J Med Genet A· June 2022

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Radiologic screening and surveillance in hereditary cancers.
Jamie E Clarke, Stephanie Magoon, Irman Forghani, Francesco Alessandrino, Gina D'Amato

Eur J Radiol Open· April 2022

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Application of the ACMG/NSGC genetic referral guidelines for hereditary renal cell carcinoma at the University of Miami, from 2014 to 2017.
Jessica D Leuchter, Priyen M Patel, Kayla M Fourzali, Talia R Donenberg, Rachel Silva-Smith, Irman Forghani

Am J Med Genet A· October 2021

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First reported adult patient with retinal dystrophy and leukodystrophy caused by a novel ACBD5 variant: A case report and review of literature.
Michelle Bartlett, Nima Nasiri, Rena Pressman, Guney Bademci, Irman Forghani

Am J Med Genet A· April 2021

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Poirier-Bienvenu neurodevelopmental syndrome: A report of a patient with a pathogenic variant in CSNK2B with abnormal linear growth.
Pavalan Selvam, Angita Jain, Anvir Cheema, Herjot Atwal, Irman Forghani

Am J Med Genet A· February 2021

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Chimerism involving a RB1 pathogenic variant in monochorionic dizygotic twins with twin-twin transfusion syndrome.
Anna M Armitage, Monica A Kundra, Neda Ghiam, Paldeep S Atwal, Dayna Morel, Irman Forghani

Am J Med Genet A· January 2021

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Missense (p.Glu778Lys) and (p.Gly908Arg) variants of NOD2 gene are associated with recurrent pulmonary non-tuberculous mycobacterial infections.
Miguel S Gonzalez-Mancera, Irman Forghani, Mehdi Mirsaeidi

Scand J Immunol· September 2020

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Updates in Clinical and Genetics Aspects of Hypermobile Ehlers Danlos Syndrome.
Irman Forghani

Balkan Med J· January 2019

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Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.
Claire Guissart, Xenia Latypova, Paul Rollier, Tahir N Khan, Hannah Stamberger, Irman Forghani

Am J Hum Genet· May 2018

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