A novel aberrant splice site mutation in COL27A1 is responsible for Steel syndrome and extension of the phenotype to include hearing loss
Gariballa, Nesrin, Ben‐Mahmoud, Afif, Komara, Makanko, Al‐Shamsi, Aisha M., John, Anne, Ali, Bassam R., Al‐Gazali, Lihadh
Published in American journal of medical genetics. Part A (01.05.2017)
Published in American journal of medical genetics. Part A (01.05.2017)
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Autosomal recessive non‐syndromic hearing loss genes in Pakistan during the previous three decades
Shadab, Madiha, Abbasi, Ansar Ahmed, Ejaz, Ahsan, Ben‐Mahmoud, Afif, Gupta, Vijay, Kim, Hyung‐Goo, Vona, Barbara
Published in Journal of cellular and molecular medicine (01.04.2024)
Published in Journal of cellular and molecular medicine (01.04.2024)
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A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome
Ben-Mahmoud, Afif, Kishikawa, Shotaro, Gupta, Vijay, Leach, Natalia T, Shen, Yiping, Moldovan, Oana, Goel, Himanshu, Hopper, Bruce, Ranguin, Kara, Gruchy, Nicolas, Maas, Saskia M, Lacassie, Yves, Kim, Soo-Hyun, Kim, Woo-Yang, Quade, Bradley J, Morton, Cynthia C, Kim, Cheol-Hee, Layman, Lawrence C, Kim, Hyung-Goo
Published in Scientific reports (10.08.2023)
Published in Scientific reports (10.08.2023)
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Exome sequencing reveals neurodevelopmental genes in simplex consanguineous Iranian families with syndromic autism
Ghasemi, Mohammad-Reza, Sadeghi, Hossein, Hashemi-Gorji, Farzad, Mirfakhraie, Reza, Gupta, Vijay, Ben-Mahmoud, Afif, Bagheri, Saman, Razjouyan, Katayoon, Salehpour, Shadab, Tonekaboni, Seyed Hassan, Dianatpour, Mehdi, Omrani, Davood, Jang, Mi-Hyeon, Layman, Lawrence C, Miryounesi, Mohammad, Kim, Hyung-Goo
Published in BMC medical genomics (05.08.2024)
Published in BMC medical genomics (05.08.2024)
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Identification of two novel autism genes, TRPC4 and SCFD2, in Qatar simplex families through exome sequencing
Gupta, Vijay, Ben-Mahmoud, Afif, Ku, Bonsu, Velayutham, Dinesh, Jan, Zainab, Yousef Aden, Abdi, Kubbar, Ahmad, Alshaban, Fouad, Stanton, Lawrence W., Jithesh, Puthen Veettil, Layman, Lawrence C., Kim, Hyung-Goo
Published in Frontiers in psychiatry (31.10.2023)
Published in Frontiers in psychiatry (31.10.2023)
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Do GSTM1 and GSTT1 polymorphisms influence the risk of developing mitochondrial diseases in a Tunisian population?
Ghorbel, Raouia, Ben Salah, Ghada, Ghorbel, Rania, Ben Mahmoud, Afif, Chamkha, Imen, Mkaouar-Rebai, Emna, Ammar-Keskes, Leila, Fakhfakh, Faiza
Published in Environmental science and pollution research international (01.02.2018)
Published in Environmental science and pollution research international (01.02.2018)
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A rigorous in silico genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disorders
Ben-Mahmoud, Afif, Jun, Kyung Ran, Gupta, Vijay, Shastri, Pinang, de la Fuente, Alberto, Park, Yongsoo, Shin, Kyung Chul, Kim, Chong Ae, da Cruz, Aparecido Divino, Pinto, Irene Plaza, Minasi, Lysa Bernardes, Silva da Cruz, Alex, Faivre, Laurence, Callier, Patrick, Racine, Caroline, Layman, Lawrence C., Kong, Il-Keun, Kim, Cheol-Hee, Kim, Woo-Yang, Kim, Hyung-Goo
Published in Frontiers in molecular neuroscience (06.10.2022)
Published in Frontiers in molecular neuroscience (06.10.2022)
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A putative disease-associated haplotype within the SCN1A gene in Dravet syndrome
Fendri-Kriaa, Nourhène, Boujilbene, Salma, Kammoun, Fatma, Mkaouar-Rebai, Emna, Mahmoud, Afif Ben, Hsairi, Ines, Rebai, Ahmed, Triki, Chahnez, Fakhfakh, Faiza
Published in Biochemical and biophysical research communications (20.05.2011)
Published in Biochemical and biophysical research communications (20.05.2011)
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Antagonist effects of Bacillus spp. strains against Fusarium graminearum for protection of durum wheat (Triticum turgidum L. subsp. durum)
Zalila-Kolsi, Imen, Ben Mahmoud, Afif, Ali, Hacina, Sellami, Sameh, Nasfi, Zina, Tounsi, Slim, Jamoussi, Kaïs
Published in Microbiological research (01.11.2016)
Published in Microbiological research (01.11.2016)
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Genetics of hypogonadotropic Hypogonadism—Human and mouse genes, inheritance, oligogenicity, and genetic counseling
Louden, Erica D., Poch, Alexandra, Kim, Hyung-Goo, Ben-Mahmoud, Afif, Kim, Soo-Hyun, Layman, Lawrence C.
Published in Molecular and cellular endocrinology (20.08.2021)
Published in Molecular and cellular endocrinology (20.08.2021)
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Digenic or oligogenic mutations in presumed monogenic disorders: A review
Ben-Mahmoud, Afif, Gupta, Vijay, Kim, Cheol-Hee, Layman, Lawrence C, Kim, Hyung-Goo
Published in Journal of genetic medicine (30.06.2023)
Published in Journal of genetic medicine (30.06.2023)
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Macrocephaly and Digital Anomalies Expand the Phenotypic Spectrum of PGAP2 Variants in Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 (HPMRS3)
Susgun, Seda, Ben-Mahmoud, Afif, Rüschendorf, Franz, Ku, Bonsu, Hussain, Syeda Iqra, Schulz, Solveig, Puk, Oliver, Biskup, Saskia, Labonne, Jonathan D. J., Don, Dilan Wellalage, Gupta, Vijay, Choi, Tae-Ik, Khan, Saadullah, Wasif, Naveed, Lacassie, Yves, Layman, Lawrence C., Ugur Iseri, Sibel Aylin, Kim, Cheol-Hee, Kim, Hyung-Goo
Published in Human mutation (05.01.2024)
Published in Human mutation (05.01.2024)
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A novel mutation MT-COIII m.9267G>C and MT-COI m.5913G>A mutation in mitochondrial genes in a Tunisian family with maternally inherited diabetes and deafness (MIDD) associated with sever nephropathy
Tabebi, Mouna, Mkaouar-Rebai, Emna, Mnif, Mouna, Kallabi, Fakhri, Ben Mahmoud, Afif, Ben Saad, Wafa, Charfi, Nadia, Keskes-Ammar, Leila, Kamoun, Hassen, Abid, Mohamed, Fakhfakh, Faiza
Published in Biochemical and biophysical research communications (10.04.2015)
Published in Biochemical and biophysical research communications (10.04.2015)
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Novel cases of Tunisian patients with mutations in the gene encoding 17β-hydroxysteroid dehydrogenase type 3 and a founder effect
Ben Rhouma, Bochra, Kallabi, Fakhri, Mahfoudh, Nadia, Ben Mahmoud, Afif, Engeli, Roger T., Kamoun, Hassen, Keskes, Leila, Odermatt, Alex, Belguith, Neila
Published in The Journal of steroid biochemistry and molecular biology (01.01.2017)
Published in The Journal of steroid biochemistry and molecular biology (01.01.2017)
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Eif2b3 mutants recapitulate phenotypes of vanishing white matter disease and validate novel disease alleles in zebrafish
Lee, Yu-Ri, Kim, Se Hee, Ben-Mahmoud, Afif, Kim, Oc-Hee, Choi, Tae-Ik, Lee, Kang-Han, Ku, Bonsu, Eum, Juneyong, Kee, Yun, Lee, Sangkyu, Cha, Jihoon, Won, DongJu, Lee, Seung-Tae, Choi, Jong Rak, Lee, Joon Soo, Kim, Heung Dong, Kim, Hyung-Goo, Bonkowsky, Joshua L, Kang, Hoon-Chul, Kim, Cheol-Hee
Published in Human molecular genetics (27.04.2021)
Published in Human molecular genetics (27.04.2021)
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Novel cases of Tunisian patients with mutations in the gene encoding 17ß-hydroxysteroid dehydrogenase type 3 and a founder effect
Rhouma, Bochra Ben, Kallabi, Fakhri, Mahfoudh, Nadia, Mahmoud, Afif Ben, Engeli, Roger T, Kamoun, Hassen, Keskes, Leila, Odermatt, Alex, Belguith, Neila
Published in The Journal of steroid biochemistry and molecular biology (01.01.2017)
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Published in The Journal of steroid biochemistry and molecular biology (01.01.2017)
Journal Article
Two novel mutations in COII and tRNA(His) mitochondrial genes in asthenozoospermic infertiles men
Siwar, Baklouti-Gargouri, Myriam, Ghorbel, Afif, Ben Mahmoud, Emna, Mkaouar-Rebai, Nozha, Chakroun, Afifa, Sellami, Faiza, Fakhfakh, Leila, Ammar-Keskes
Published in Biochemical and biophysical research communications (18.07.2014)
Published in Biochemical and biophysical research communications (18.07.2014)
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