Further supporting evidence for REEP1 phenotypic and allelic heterogeneity

por Maroofian, Reza, Behnam, Mahdiyeh, Kaiyrzhanov, Rauan, Salpietro, Vincenzo, Salehi, Mansour, Houlden, Henry
Publicado 2019

A Novel Homozygous ADCY5 Variant is Associated with a Neurodevelopmental Disorder and Movement Abnormalities

por Kaiyrzhanov, Rauan, Zaki, Maha S., Maroofian, Reza, Dominik, Natalia, Rad, Aboulfazl, Vona, Barbara, Houlden, Henry
Publicado 2021

Parental Whole-Exome Sequencing Enables Sialidosis Type II Diagnosis due to an NEU1 Missense Mutation as an Underlying Cause of Nephrotic Syndrome in the Child

por Maroofian, Reza, Schuele, Isabel, Najafi, Maryam, Bakey, Zeineb, Rad, Abolfazl, Antony, Dinu, Habibi, Haleh, Schmidts, Miriam
Publicado 2018

Unbalanced segregation of a paternal t(9;11)(p24.3;p15.4) translocation causing familial Beckwith-Wiedemann syndrome: a case report

por Lekszas, Caroline, Nanda, Indrajit, Vona, Barbara, Böck, Julia, Ashrafzadeh, Farah, Donyadideh, Nahid, Ebrahimzadeh, Farnoosh, Ahangari, Najmeh, Maroofian, Reza, Karimiani, Ehsan Ghayoor, Haaf, Thomas
Publicado 2019

Childhood‐Onset Choreo‐Dystonia Due to a Recurrent Novel Homozygous Nonsense HPCA Variant: Case Series and Literature Review

por Magrinelli, Francesca, Bhatia, Kailash P., Beiraghi Toosi, Mehran, Arab, Fatemeh, Karimiani, Ehsan Ghayoor, Sedighzadeh, Sahar, Ansari, Behnaz, Neshatdoust, Maedeh, Rocca, Clarissa, Houlden, Henry, Maroofian, Reza
Publicado 2022

The conserved p.Arg108 residue in S1PR2 (DFNB68) is fundamental for proper hearing: evidence from a consanguineous Iranian family

por Hofrichter, Michaela A. H., Mojarad, Majid, Doll, Julia, Grimm, Clemens, Eslahi, Atiye, Hosseini, Neda Sadat, Rajati, Mohsen, Müller, Tobias, Dittrich, Marcus, Maroofian, Reza, Haaf, Thomas, Vona, Barbara
Publicado 2018

Analysis of enriched rare variants in JPH2-encoded junctophilin-2 among Greater Middle Eastern individuals reveals a novel homozygous variant associated with neonatal dilated cardi...

por Jones, Edward G., Mazaheri, Neda, Maroofian, Reza, Zamani, Mina, Seifi, Tahereh, Sedaghat, Alireza, Shariati, Gholamreza, Jamshidi, Yalda, Allen, Hugh D., Wehrens, Xander H. T., Galehdari, Hamid, Landstrom, Andrew P.
Publicado 2019

A Novel Mutation in the OFD1 Gene in a Family with Oral-Facial-Digital Syndrome Type 1: A Case Report

por DEHGHAN TEZERJANI, Masoud, MAROOFIAN, Reza, VAHIDI MEHRJARDI, Mohammad Yahya, CHIOZA, Barry A., ZAMANINEJAD, Shiva, KALANTAR, Seyed Mehdi, NORI-SHADKAM, Mahmoud, GHADIMI, Hamidreza, BAPLE, Emma L., CROSBY, Andrew H., DEHGHANI, Mohammadreza
Publicado 2016

Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder

por Maroofian, Reza, Efthymiou, Stephanie, Suri, Mohnish, Rahman, Fatima, Zaki, Maha S, Maqbool, Shazia, Anwa, Najwa, Ruiz-Pérez, Victor L, Yanovsky-Dagan, Shira, Elpeleg, Orly, Sudhakar, Sniya, Mankad, Kshitij, Harel, Tamar, Houlden, Henry
Publicado 2023

PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations

por Tremblay‐Laganière, Camille, Kaiyrzhanov, Rauan, Maroofian, Reza, Nguyen, Thi Tuyet Mai, Salayev, Kamran, Chilton, Ilana T., Chung, Wendy K., Madden, Jill A., Phornphutkul, Chanika, Agrawal, Pankaj B., Houlden, Henry, Campeau, Philippe M.
Publicado 2020

Biallelic variants in ADARB1, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy

por Maroofian, Reza, Sedmík, Jiří, Mazaheri, Neda, Scala, Marcello, Zaki, Maha S, Keegan, Liam P, Azizimalamiri, Reza, Issa, Mahmoud, Shariati, Gholamreza, Sedaghat, Alireza, Beetz, Christian, Bauer, Peter, Galehdari, Hamid, O’Connell, Mary A, Houlden, Henry
Publicado 2021

Homozygous missense WIPI2 variants cause a congenital disorder of autophagy with neurodevelopmental impairments of variable clinical severity and disease course

por Maroofian, Reza, Gubas, Andrea, Kaiyrzhanov, Rauan, Scala, Marcello, Hundallah, Khalid, Severino, Mariasavina, Abdel-Hamid, Mohamed S, Rosenfeld, Jill A, Ebrahimi-Fakhari, Darius, Ali, Zahir, Rahim, Fazal, Houlden, Henry, Tooze, Sharon A, Alsaleh, Norah S, Zaki, Maha S
Publicado 2021

Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features

por Zaki, Maha S., Accogli, Andrea, Mirzaa, Ghayda, Rahman, Fatima, Mohammed, Hiba, Porras-Hurtado, Gloria Liliana, Efthymiou, Stephanie, Maqbool, Shazia, Shukla, Anju, Vincent, John B., Hussain, Abrar, Mir, Asif, Beetz, Christian, Leubauer, Anika, Houlden, Henry, Gleeson, Joseph G., Maroofian, Reza
Publicado 2021

Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1

por Appelhof, Bart, Wagner, Matias, Hoefele, Julia, Heinze, Anja, Roser, Timo, Koch-Hogrebe, Margarete, Roosendaal, Stefan D., Dehghani, Mohammadreza, Mehrjardi, Mohammad Yahya Vahidi, Torti, Erin, Houlden, Henry, Maroofian, Reza, Rajabi, Farrah, Sticht, Heinrich, Baas, Frank, Wieczorek, Dagmar, Jamra, Rami Abou
Publicado 2020

Pure cerebellar ataxia due to bi‐allelic PRDX3 variants including recurring p.Asp202Asn

por Efthymiou, Stephanie, Novis, Luiz E., Koutsis, Georgios, Koniari, Chrysoula, Maroofian, Reza, Turchetti, Valentina, Velonakis, Georgios, Vasconcellos, Luiz F., Raskin, Salmo, Srinivasan, Varunvenkat M., Pagnamenta, Alistair T., Arun, Yaramanchanahalli B., Kinhal, Uddhava V., Gowda, Vykuntaraju K., Teive, Helio A. G., Houlden, Henry
Publicado 2023

Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3

por Osborn, Daniel Peter Sayer, Emrahi, Leila, Clayton, Joshua, Tabrizi, Mehrnoush Toufan, Wan, Alex Yui Bong, Maroofian, Reza, Yazdchi, Mohammad, Garcia, Michael Leon Enrique, Galehdari, Hamid, Hesse, Camila, Shariati, Gholamreza, Mazaheri, Neda, Sedaghat, Alireza, Goullée, Hayley, Laing, Nigel, Jamshidi, Yalda, Tajsharghi, Homa
Publicado 2020

Defective phosphatidylethanolamine biosynthesis leads to a broad ataxia-spasticity spectrum

por Kaiyrzhanov, Rauan, Wortmann, Saskia, Reid, Taryn, Dehghani, Mohammadreza, Vahidi Mehrjardi, Mohammad Yahya, Alhaddad, Bader, Wagner, Matias, Deschauer, Marcus, Cordts, Isabell, Fernandez-Murray, J Pedro, Treffer, Veronika, Metanat, Zahra, Pittman, Alan, Houlden, Henry, Meitinger, Thomas, Carroll, Christopher, McMaster, Christopher R, Maroofian, Reza
Publicado 2021

Variable skeletal phenotypes associated with biallelic variants in PRKG2

por Pagnamenta, Alistair T, Diaz-Gonzalez, Francisca, Banos-Pinero, Benito, Ferla, Matteo P, Toosi, Mehran B, Calder, Alistair D, Karimiani, Ehsan G, Doosti, Mohammad, Wainwright, Andrew, Wordsworth, Paul, Bailey, Kathryn, Ejeskär, Katarina, Lester, Tracy, Maroofian, Reza, Heath, Karen E, Tajsharghi, Homa, Shears, Deborah, Taylor, Jenny C
Publicado 2022

Mutations in KPTN Cause Macrocephaly, Neurodevelopmental Delay, and Seizures

por Baple, Emma L., Maroofian, Reza, Chioza, Barry A., Izadi, Maryam, Cross, Harold E., Al-Turki, Saeed, Barwick, Katy, Skrzypiec, Anna, Pawlak, Robert, Wagner, Karin, Coblentz, Roselyn, Zainy, Tala, Patton, Michael A., Mansour, Sahar, Rich, Phillip, Qualmann, Britta, Hurles, Matt E., Kessels, Michael M., Crosby, Andrew H.
Publicado 2014

MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome)

por Rad, Abolfazl, Altunoglu, Umut, Miller, Rebecca, Maroofian, Reza, James, Kiely N, Çağlayan, Ahmet Okay, Najafi, Maryam, Stanley, Valentina, Boustany, Rose-Mary, Yeşil, Gözde, Sahebzamani, Afsaneh, Ercan-Sencicek, Gülhan, Saeidi, Kolsoum, Wu, Kaman, Bauer, Peter, Bakey, Zeineb, Gleeson, Joseph G, Hauser, Natalie, Gunel, Murat, Kayserili, Hulya, Schmidts, Miriam
Publicado 2019