First reported adult patient with retinal dystrophy and leukodystrophy caused by a novel ACBD5 variant: A case report and review of literature
Bartlett, Michelle, Nasiri, Nima, Pressman, Rena, Bademci, Guney, Forghani, Irman
Published in American journal of medical genetics. Part A (01.04.2021)
Published in American journal of medical genetics. Part A (01.04.2021)
Get full text
Journal Article
Poirier–Bienvenu neurodevelopmental syndrome: A report of a patient with a pathogenic variant in CSNK2B with abnormal linear growth
Selvam, Pavalan, Jain, Angita, Cheema, Anvir, Atwal, Herjot, Forghani, Irman, Atwal, Paldeep S
Published in American journal of medical genetics. Part A (01.02.2021)
Published in American journal of medical genetics. Part A (01.02.2021)
Get full text
Journal Article
Prevalence of cardiovascular manifestations in patients with hypermobile Ehlers‐Danlos syndrome at the University of Miami
Pietri‐Toro, Jariselle M., Gardner, Olivia K., Leuchter, Jessica D., DiBartolomeo, Gabrielle, Hunter, Juanita A., Forghani, Irman
Published in American journal of medical genetics. Part A (01.06.2023)
Published in American journal of medical genetics. Part A (01.06.2023)
Get full text
Journal Article
Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia
Guissart, Claire, Latypova, Xenia, Rollier, Paul, Khan, Tahir N., Stamberger, Hannah, McWalter, Kirsty, Cho, Megan T., Kjaergaard, Susanne, Weckhuysen, Sarah, Lesca, Gaetan, Besnard, Thomas, Õunap, Katrin, Schema, Lynn, Chiocchetti, Andreas G., McDonald, Marie, de Bellescize, Julitta, Vincent, Marie, Van Esch, Hilde, Sattler, Shannon, Forghani, Irman, Thiffault, Isabelle, Freitag, Christine M., Barbouth, Deborah Sara, Cadieux-Dion, Maxime, Willaert, Rebecca, Guillen Sacoto, Maria J., Safina, Nicole P., Dubourg, Christèle, Grote, Lauren, Carré, Wilfrid, Saunders, Carol, Pajusalu, Sander, Farrow, Emily, Boland, Anne, Karlowicz, Danielle Hays, Deleuze, Jean-François, Wojcik, Monica H., Pressman, Rena, Isidor, Bertrand, Vogels, Annick, Van Paesschen, Wim, Al-Gazali, Lihadh, Al Shamsi, Aisha Mohamed, Claustres, Mireille, Pujol, Aurora, Sanders, Stephan J., Rivier, François, Leboucq, Nicolas, Cogné, Benjamin, Sasorith, Souphatta, Sanlaville, Damien, Retterer, Kyle, Odent, Sylvie, Katsanis, Nicholas, Bézieau, Stéphane, Koenig, Michel, Davis, Erica E., Pasquier, Laurent, Küry, Sébastien
Published in American journal of human genetics (03.05.2018)
Published in American journal of human genetics (03.05.2018)
Get full text
Journal Article
Chimerism involving a RB1 pathogenic variant in monochorionic dizygotic twins with twin–twin transfusion syndrome
Armitage, Anna M., Kundra, Monica A., Ghiam, Neda, Atwal, Paldeep S., Morel, Dayna, Hruska, Kathleen S., Torene, Rebecca, Harbour, J. William, Forghani, Irman
Published in American journal of medical genetics. Part A (01.01.2021)
Published in American journal of medical genetics. Part A (01.01.2021)
Get full text
Journal Article
Molecular Modeling and Phenotypic Description of a Patient with a Novel Exonic Deletion of GALNS with Resultant Morquio Syndrome with Two Successful Pregnancies
Selvam, Pavalan, Jain, Angita, Abbott, Jessica, Ahuja, Abhimanyu S., Cheema, Anvir, Bruno, Katelyn A., Atwal, Herjot, Forghani, Irman, Caulfield, Thomas, Atwal, Paldeep S.
Published in Molecular syndromology (01.07.2022)
Published in Molecular syndromology (01.07.2022)
Get full text
Journal Article
Application of the ACMG/NSGC genetic referral guidelines for hereditary renal cell carcinoma at the University of Miami, from 2014 to 2017
Leuchter, Jessica D., Patel, Priyen M., Fourzali, Kayla M., Donenberg, Talia R., Silva‐Smith, Rachel, Vassallo, Nicolette C., Blanton, Susan H., Parekh, Dipen J., Forghani, Irman
Published in American journal of medical genetics. Part A (01.10.2021)
Published in American journal of medical genetics. Part A (01.10.2021)
Get full text
Journal Article
ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy
Volmrich, Alyssa M, Cuénant, Lauren M, Forghani, Irman, Hsieh, Sharon L, Shapiro, Lauren T
Published in Application of clinical genetics (01.01.2022)
Published in Application of clinical genetics (01.01.2022)
Get full text
Journal Article
Radiologic screening and surveillance in hereditary cancers
Clarke, Jamie E., Magoon, Stephanie, Forghani, Irman, Alessandrino, Francesco, D’Amato, Gina, Jonczak, Emily, Subhawong, Ty K.
Published in European journal of radiology Open (01.01.2022)
Published in European journal of radiology Open (01.01.2022)
Get full text
Journal Article
First reported adult patient with retinal dystrophy and leukodystrophy caused by a novel ACBD5 variant: A case report and review of literature
Bartlett, Michelle, Nasiri, Nima, Pressman, Rena, Bademci, Guney, ghani, Irman
Published in American journal of medical genetics. Part A (01.04.2021)
Published in American journal of medical genetics. Part A (01.04.2021)
Get full text
Report
Poirier-Bienvenu neurodevelopmental syndrome: A report of a patient with a pathogenic variant in CSNK2B with abnormal linear growth
Selvam, Pavalan, Jain, Angita, Cheema, Anvir, Atwal, Herjot, ghani, Irman, Atwal, Paldeep S
Published in American journal of medical genetics. Part A (01.02.2021)
Published in American journal of medical genetics. Part A (01.02.2021)
Get full text
Report
Chimerism involving a RB1 pathogenic variant in monochorionic dizygotic twins with twin-twin transfusion syndrome
Armitage, Anna M, Kundra, Monica A, Ghiam, Neda, Atwal, Paldeep S, Morel, Dayna, Hruska, Kathleen S, Torene, Rebecca, Harbour, J William, ghani, Irman
Published in American journal of medical genetics. Part A (01.01.2021)
Published in American journal of medical genetics. Part A (01.01.2021)
Get full text
Report