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Sanderson, Leslie E. [Author]; Lanko, Kristina [Author]; Alsagob, Maysoon [Author]; Almass, Rawan [Author]; Al-Ahmadi, Nada [Author]; Najafi, Maryam [Author]; Antony, Dinu [Author]; Schmidts, Miriam [Author]; Barakat, Tahsin Stefan [Author]; Ham, Tjakko J. van [Author]; Kaya, Namik [Author]

Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking

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Oxford: Oxford Univ. Press, 2021

Published in: Brain ; 144, 3 (2021), 769–780
Al-Muhaizea, Mohammad A.; AlMutairi, Faten; Almass, Rawan; AlHarthi, Safinaz; Aldosary, Mazhor S.; Alsagob, Maysoon; AlOdaib, Ali; Colak, Dilek; Kaya, Namik

A Novel Homozygous Mutation in SPTBN2 Leads to Spinocerebellar Ataxia in a Consanguineous Family: Report of a New Infantile-Onset Case and Brief Review of the Literature

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Springer Science and Business Media LLC, 2018

Published in: The Cerebellum, 17 (2018) 3, Seite 276-285
AlShail, Essam; Alahmari, Ahmed Nasser; Dababo, Anas A. M.; Alsagob, Maysoon; Al-Hindi, Hindi; Khalil, Hala; Al Masseri, Zainab; AlSalamah, Razan; Almohseny, Ethar; Alduhaish, Amjad; Colak, Dilek; Kaya, Namik

A molecular study of pediatric pilomyxoid and pilocytic astrocytomas: Genome-wide copy number screening, retrospective analysis of clinicopathological features and long-term clinical outcome

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Frontiers Media SA, 2023

Published in: Frontiers in Oncology, 13 (2023)
Al‐Muhaizea, Mohammed A.; Aldeeb, Hanouf; Almass, Rawan; Jaber, Hadeel; Binhumaid, Felwa; Alquait, Laila; Abukhalid, Musaad; Aldhalaan, Hesham; Alsagob, Maysoon; Al‐Bakheet, Albandary; Aldosary, Mazhor; Alkofide, Hadeel; Alrasheed, Maha M.; Colak, Dilek; Kaya, Namik

Genetics of ataxia telangiectasia in a highly consanguineous population

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Wiley, 2022

Published in: Annals of Human Genetics, 86 (2022) 1, Seite 34-44
Salih, Mustafa A.; Hamad, Muddathir H.; Savarese, Marco; Alorainy, Ibrahim A.; Al-Jarallah, Abdullah S.; Alkhalidi, Hisham; AlQudairy, Hanan; Albader, Anoud; Alotaibi, Amal Jahz; Alsagob, Maysoon; Al-Bakheet, Albandary; Colak, Dilek; Udd, Bjarne; Kaya, Namik

Exome Sequencing Reveals Novel TTN Variants in Saudi Patients with Congenital Titinopathies

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Mary Ann Liebert Inc, 2021

Published in: Genetic Testing and Molecular Biomarkers, 25 (2021) 12, Seite 757-764
Alsagob, Maysoon; Salih, Mustafa A.; Hamad, Muddathir H. A.; Al-Yafee, Yusra; Al-Zahrani, Jawaher; Al-Bakheet, Albandary; Nester, Michael; Sakati, Nadia; Wakil, Salma M.; AlOdaib, Ali; Colak, Dilek; Kaya, Namik

First report of two successive deletions on chromosome 15q13 cytogenetic bands in a boy and girl: additional data to 15q13.3 syndrome with a report of high IQ patient

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Springer Science and Business Media LLC, 2019

Published in: Molecular Cytogenetics, 12 (2019) 1
Aldosary, Mazhor; Alsagob, Maysoon; AlQudairy, Hanan; González-Álvarez, Ana C.; Arold, Stefan T.; Dababo, Mohammad Anas; Alharbi, Omar A.; Almass, Rawan; AlBakheet, AlBandary; AlSarar, Dalia; Qari, Alya; Al-Ansari, Mysoon M.; Oláhová, Monika; Al-Shahrani, Saif A.; AlSayed, Moeenaldeen; Colak, Dilek; Taylor, Robert W.; AlOwain, Mohammed; Kaya, Namik

A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families

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MDPI AG, 2022

Published in: Cells, 11 (2022) 19, Seite 3154
Al‐Bakheet, Albandary; Tohary, Mohamed; Khan, Sameena; Chedrawi, Aziza; Edrees, Alaa; Tous, Ehab; Al‐Mousa, Hamoud; Al‐Otaibi, Lefian; AlShahrani, Saif; Alsagob, Maysoon; Al‐Quait, Laila; Almass, Rawan; Al‐Joudi, Haya; Monies, Dorota; Al‐Semari, Abdulaziz; Aldosary, Mazhor; Daghestani, Maha; Colak, Dilek; Kaya, Namik; Al‐Owain, Mohammed

Hematological findings associated with tubulin‐folding cofactors D‐related encephalopathy: Expanding the phenotype

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Wiley, 2021

Published in: Clinical Genetics, 99 (2021) 5, Seite 724-731
Aldosary, Mazhor; Baselm, Shahad; Abdulrahim, Maha; Almass, Rawan; Alsagob, Maysoon; AlMasseri, Zainab; Huma, Rozeena; AlQuait, Laila; Al‐Shidi, Tarfa; Al‐Obeid, Eman; AlBakheet, Albandary; Alahideb, Basma; Alahaidib, Lujane; Qari, Alya; Taylor, Robert W.; Colak, Dilek; AlSayed, Moeenaldeen D.; Kaya, Namik

SLC25A42‐associated mitochondrial encephalomyopathy: Report of additional founder cases and functional characterization of a novel deletion

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Wiley, 2021

Published in: JIMD Reports, 60 (2021) 1, Seite 75-87
Acar, Sezer; BinEssa, Huda A.; Demir, Korcan; Al-Rijjal, Roua A.; Zou, Minjing; Çatli, Gönül; Anık, Ahmet; Al-Enezi, Anwar F.; Özışık, Seçil; Al-Faham, Manar S. A.; Abacı, Ayhan; Dündar, Bumin; Kattan, Walaa E.; Alsagob, Maysoon; Kavukçu, Salih; Tamimi, Hamdi E.; Meyer, Brian F.; Böber, Ece; Shi, Yufei

Clinical and genetic characteristics of 15 families with hereditary hypophosphatemia: Novel Mutations in PHEX and SLC34A3

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Public Library of Science (PLoS), 2018

Published in: PLOS ONE, 13 (2018) 3, Seite e0193388
Alrakaf, Laila; Al‐Owain, Mohammed A.; Busehail, Maryam; Alotaibi, Maha A.; Monies, Dorota; Aldhalaan, Hesham M.; Alhashem, Amal; Al‐Hassnan, Zuhair N.; Rahbeeni, Zuhair A.; Murshedi, Fathiya Al; Ani, Nadia Al; Al‐Maawali, Almundher; Ibrahim, Niema A.; Abdulwahab, Firdous M.; Alsagob, Maysoon; Hashem, Mais O.; Ramadan, Wafaa; Abouelhoda, Mohamed; Meyer, Brian F.; Kaya, Namik; Maddirevula, Sateesh; Alkuraya, Fowzan S.

Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities

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Wiley, 2018

Published in: American Journal of Medical Genetics Part A, 176 (2018) 3, Seite 715-721
Al-Hassnan, Zuhair N.; Albawardi, Waad; Almutairi, Faten; AlMass, Rawan; AlBakheet, Albandary; Mustafa, Osama M.; AlQuait, Laila; Shinwari, Zarghuna M. A.; Wakil, Salma; Salih, Mustafa A.; Al-Fayyadh, Majid; Hassan, Saeed M.; Aljoufan, Mansour; Al-Nakhli, Osima; Levy, Brynn; AlMaarik, Balsam; Al-Hakami, Hana A.; Alsagob, Maysoon; Colak, Dilek; Kaya, Namik

Identification of novel genomic imbalances in Saudi patients with congenital heart disease

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Springer Science and Business Media LLC, 2018

Published in: Molecular Cytogenetics, 11 (2018) 1
Kaya, Namik; Alsagob, Maysoon; D'Adamo, Maria Cristina; Al-Bakheet, Albandary; Hasan, Sonia; Muccioli, Maria; Almutairi, Faten B; Almass, Rawan; Aldosary, Mazhor; Monies, Dorota; Mustafa, Osama M; Alyounes, Banan; Kenana, Rosan; Al-Zahrani, Jawaher; Naim, Eva; Binhumaid, Faisal S; Qari, Alya; Almutairi, Fatema; Meyer, Brian; Plageman, Timothy F; Pessia, Mauro; Colak, Dilek; Al-Owain, Mohammed

KCNA4deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability

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BMJ, 2016

Published in: Journal of Medical Genetics, 53 (2016) 11, Seite 786-792
Al-Hassnan, Zuhair N; Al-Dosary, Mazhor; Alfadhel, Majid; Faqeih, Eissa A; Alsagob, Maysoon; Kenana, Rosan; Almass, Rawan; Al-Harazi, Olfat S; Al-Hindi, Hindi; Malibari, Omhani I; Almutari, Faten B; Tulbah, Sahar; Alhadeq, Faten; Al-Sheddi, Tarfa; Alamro, Rana; AlAsmari, Ali; Almuntashri, Makki; Alshaalan, Hesham; Al-Mohanna, Futwan A; Colak, Dilek; Kaya, Namik

ISCA2mutation causes infantile neurodegenerative mitochondrial disorder

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BMJ, 2015

Published in: Journal of Medical Genetics, 52 (2015) 3, Seite 186-194
Aldosary, Mazhor; Al-Bakheet, AlBandary; Al-Dhalaan, Hesham; Almass, Rawan; Alsagob, Maysoon; Al-Younes, Banan; AlQuait, Laila; Mustafa, Osama Mufid; Bulbul, Mustafa; Rahbeeni, Zuhair; Alfadhel, Majid; Chedrawi, Aziza; Al-Hassnan, Zuhair; AlDosari, Mohammed; Al-Zaidan, Hamad; Al-Muhaizea, Mohammad A.; AlSayed, Moeenaldeen D.; Salih, Mustafa A.; AlShammari, Mai; Faiyaz-Ul-Haque, Muhammad; Chishti, Mohammad Azhar; Al-Harazi, Olfat; Al-Odaib, Ali; Kaya, Namik;

Rett Syndrome, a Neurodevelopmental Disorder, Whole-Transcriptome, and Mitochondrial Genome Multiomics Analyses Identify Novel Variations and Disease Pathways

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Mary Ann Liebert Inc, 2020

Published in: OMICS: A Journal of Integrative Biology, 24 (2020) 3, Seite 160-171
El-Hattab, Ayman W.; Dai, Hongzheng; Almannai, Mohammed; Wang, Julia; Faqeih, Eissa A.; Al Asmari, Ali; Saleh, Mohammed A. M.; Elamin, Mohammed A. O.; Alfadhel, Majid; Alkuraya, Fowzan S.; Hashem, Mais; Aldosary, Mazhor S.; Almass, Rawan; Almutairi, Faten B.; Alsagob, Maysoon; Al-Owain, Mohammed; Al-Sharfa, Shirin; Al-Hassnan, Zuhair N.; Rahbeeni, Zuhair; Al-Muhaizea, Mohammed A.; Makhseed, Nawal; Foskett, Gretchen K.; Stevenson, David A.; Gomez-Ospina, Natalia; [...]

Molecular and clinical spectra of FBXL4 deficiency

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Hindawi Limited, 2017

Published in: Human Mutation, 38 (2017) 12, Seite 1649-1659
Deng, Ruizhi; Medico-Salsench, Eva; Nikoncuk, Anita; Ramakrishnan, Reshmi; Lanko, Kristina; Kühn, Nikolas A.; van der Linde, Herma C.; Lor-Zade, Sarah; Albuainain, Fatimah; Shi, Yuwei; Yousefi, Soheil; Capo, Ivan; van den Herik, Evita Medici; van Slegtenhorst, Marjon; van Minkelen, Rick; Geeven, Geert; Mulder, Monique T.; Ruijter, George J. G.; Lütjohann, Dieter; Jacobs, Edwin H.; Houlden, Henry; Pagnamenta, Alistair T.; Metcalfe, Kay; Jackson, Adam; [...]

AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model

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Springer Science and Business Media LLC, 2023

Published in: Acta Neuropathologica, 146 (2023) 2, Seite 353-368
Sanderson, Leslie E; Lanko, Kristina; Alsagob, Maysoon; Almass, Rawan; Al-Ahmadi, Nada; Najafi, Maryam; Al-Muhaizea, Mohammad A; Alzaidan, Hamad; AlDhalaan, Hesham; Perenthaler, Elena; van der Linde, Herma C; Nikoncuk, Anita; Kühn, Nikolas A; Antony, Dinu; Owaidah, Tarek Mustafa; Raskin, Salmo; Vieira, Luana Gabriela Dalla Rosa; Mombach, Romulo; Ahangari, Najmeh; Silveira, Tainá Regina Damaceno; Ameziane, Najim; Rolfs, Arndt; Alharbi, Aljohara; Sabbagh, Raghda M; [...]

Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking

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Oxford University Press (OUP), 2021

Published in: Brain, 144 (2021) 3, Seite 769-780
Perenthaler, Elena; Nikoncuk, Anita; Yousefi, Soheil; Berdowski, Woutje M.; Alsagob, Maysoon; Capo, Ivan; van der Linde, Herma C.; van den Berg, Paul; Jacobs, Edwin H.; Putar, Darija; Ghazvini, Mehrnaz; Aronica, Eleonora; van IJcken, Wilfred F. J.; de Valk, Walter G.; Medici-van den Herik, Evita; van Slegtenhorst, Marjon; Brick, Lauren; Kozenko, Mariya; Kohler, Jennefer N.; Bernstein, Jonathan A.; Monaghan, Kristin G.; Begtrup, Amber; Torene, Rebecca; Al Futaisi, Amna; [...]

Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases

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Springer Science and Business Media LLC, 2020

Published in: Acta Neuropathologica, 139 (2020) 3, Seite 415-442

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