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1

Phenotypic and Molecular Spectrum of Aicardi–Goutières Syndrome: a Study of 24 Patients

Al Mutairi, Fuad, Alfadhel, Majid, Nashabat, Marwan, El-Hattab, Ayman W., Ben-Omran, Tawfeg, Hertecant, Jozef, Eyaid, Wafaa, Ali, Rehab, Alasmari, Ali, Kara, Majdi, Al-Twaijri, Waleed, Filimban, Rana,

Journal:

Pediatric Neurology

Year:

2017

Language:

english

File:

PDF, 1.05 MB

english, 2017

2

Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy

Ahmed, Ashfaque, Wang, Meng, Bergant, Gaber, Maroofian, Reza, Zhao, Rongjuan, Alfadhel, Majid, Nashabat, Marwan, AlRifai, Muhammad Talal, Eyaid, Wafaa, Alswaid, Abdulrahman, Beetz, Christian, Qin, Yan

Journal:

Year:

2020

File:

PDF, 7.59 MB

2020

3

Guidelines for acute management of hyperammonemia in the Middle East region

Alfadhel, Majid, Al Mutairi, Fuad, Makhseed, Nawal, Al Jasmi, Fatma, Al-Thihli, Khalid, Al-Jishi, Emtithal, Al-Sayed, Moeen, Al-Hassnan, Zuhair N, Al Murshedi, Fathiya, Häberle, Johannes, Ben-Omran, T

Journal:

Therapeutics and Clinical Risk Management

Year:

2016

Language:

english

File:

PDF, 350 KB

english, 2016

4

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

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

Journal:

Omics A Journal of Integrative Biology

Year:

2020

Language:

english

File:

PDF, 438 KB

english, 2020

5

Further Delineation of the Clinical Phenotype of Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4

Alsahli, Saud, Alrifai, Muhammad Talal, Al Tala, Saeed, Mutairi, Fuad Al, Alfadhel, Majid

Journal:

Journal of Central Nervous System Disease

Year:

2018

Language:

english

File:

PDF, 168 KB

english, 2018

6

Expanded Newborn Screening Program in Saudi Arabia: Incidence of screened disorders

Alfadhel, Majid, Al Othaim, Ali, Al Saif, Saif, Al Mutairi, Fuad, Alsayed, Moeenaldeen, Rahbeeni, Zuhair, Alzaidan, Hamad, Alowain, Mohammed, Al-Hassnan, Zuhair, Saeedi, Mohamad, Aljohery, Saeed, Alas

Journal:

Journal of Paediatrics and Child Health

Year:

2017

Language:

english

File:

PDF, 690 KB

english, 2017

7

Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia

Alfadhel, Majid, Benmeakel, Mohammed, Hossain, Mohammad Arif, Al Mutairi, Fuad, Al Othaim, Ali, Alfares, Ahmed A., Al Balwi, Mohammed, Alzaben, Abdullah, Eyaid, Wafaa

Journal:

Orphanet Journal of Rare Diseases

Year:

2016

Language:

english

File:

PDF, 410 KB

english, 2016

8

Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases

Majid Alfadhel, Makki Almuntashri, Raafat H Jadah…

Journal:

Orphanet Journal of Rare Diseases

Year:

2013

Language:

english

File:

PDF, 256 KB

english, 2013

9

Tetrasomy 18p: case report and review of literature

Bawazeer, Shahad, Alshalan, Maha, Alkhaldi, Azizah, Alatwi, Nasser, AlBalwi, Mohammed, Alswaid, Abdulrahman, Alfadhel, Majid

Journal:

The Application of Clinical Genetics

Year:

2018

Language:

english

File:

PDF, 1.29 MB

english, 2018

10

A Missense Mutation in the UGDH Gene Is Associated With Developmental Delay and Axial Hypotonia

Alhamoudi, Kheloud M., Bhat, Javaid, Nashabat, Marwan, Alharbi, Masheal, Alyafee, Yusra, Asiri, Abdulaziz, Umair, Muhammad, Alfadhel, Majid

Journal:

Frontiers in Pediatrics

Year:

2020

File:

PDF, 837 KB

2020

11

Mutated RAP1GDS1 causes a new syndrome of dysmorphic feature, intellectual disability & speech delay

Asiri, Abdulaziz, Aloyouni, Essra, Umair, Muhammad, Alyafee, Yusra, Al Tuwaijri, Abeer, Alhamoudi, Kheloud M., Almuzzaini, Bader, Al Baz, Abeer, Alwadaani, Deemah, Nashabat, Marwan, Alfadhel, Majid

Journal:

Annals of Clinical and Translational Neurology

Year:

2020

File:

PDF, 2.73 MB

2020

12

CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays

Windpassinger, Christian, Piard, Juliette, Bonnard, Carine, Alfadhel, Majid, Lim, Shuhui, Bisteau, Xavier, Blouin, Stéphane, Ali, Nur’Ain B., Ng, Alvin Yu Jin, Lu, Hao, Tohari, Sumanty, Talib, S. Zaki

Journal:

The American Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 1.86 MB

english, 2017

13

Multiple Mitochondrial Dysfunctions Syndrome 4 Due to ISCA2 Gene Defects: A Review

Alfadhel, Majid

Journal:

Child Neurology Open

Year:

2019

Language:

english

File:

PDF, 158 KB

english, 2019

14

MEFV c.2230G>T p.(Ala744Ser) rs61732874 previously misclassified as pathogenic variant due to lack of a population specific database

Alsubaie, Lamia, Alkhalaf, Randa, Aloraini, Taghrid, Amoudi, Manal, Swaid, Abdulrahman, Almutairi, Fuad, Alfadhel, Majid, Eyaid1, Wafaa, Sewairi, Wafaa, Alfares, Ahmed

Journal:

Annals of Human Genetics

Year:

2020

File:

PDF, 283 KB

2020

15

Diabetic ketoacidosis in vanishing white matter

Alamri, Hannadi, Al Mutairi, Fuad, Alothman, Johara, Alothaim, Ali, Alfadhel, Majid, Alfares, Ahmed

Journal:

Clinical Case Reports

Year:

2016

Language:

english

File:

PDF, 787 KB

english, 2016

16

Rare genetic variant in theCFBgene presenting as atypical hemolytic uremic syndrome and immune complex diffuse membranoproliferative glomerulonephritis, with crescents, successfully treated with eculizumab

Alfakeeh, Khalid, Azar, Mohammed, Alfadhel, Majid, Abdullah, Alsuayri Mansour, Aloudah, Nourah, Alsaad, Khaled O.

Journal:

Pediatric Nephrology

Year:

2017

Language:

english

File:

PDF, 5.51 MB

english, 2017

17

Further Delineation of the phenotypic spectrum of ISCA2 Defect: A Report of Ten New Cases

Alfadhel, Majid, Nashabat, Marwan, AlRifai, Muhammed Talal, Alshaalan, Hesham, Al Mutairi, Fuad, Al-Shahrani, Saif A., Plecko, Barbara, Almass, Rawan, Alsagob, Maysoon, Almutairi, Faten B., Al-Rumayya

Journal:

European Journal of Paediatric Neurology

Year:

2017

Language:

english

File:

PDF, 5.94 MB

english, 2017

18

Deficiency of ADA2 mimicking autoimmune lymphoproliferative syndrome in the absence of livedo reticularis and vasculitis

Alsultan, Abdulrahman, Basher, Enas, Alqanatish, Jubran, Mohammed, Reem, Alfadhel, Majid

Journal:

Pediatric Blood & Cancer

Year:

2017

Language:

english

File:

PDF, 291 KB

english, 2017

19

Adenosine Kinase Deficiency: Report and Review

Alhusani, Alhanouf, Obaid, Abdulrahman, Blom, Henk, Wedell, Anna, Alfadhel, Majid

Journal:

Neuropediatrics

Year:

2018

Language:

english

File:

PDF, 138 KB

english, 2018

20

Proteomic and Molecular Assessment of the Common Saudi Variant in ACADVL Gene Through Mesenchymal Stem Cells

Alfares, Ahmad, Alfadhel, Majid, Mujamammi, Ahmed, Alotaibi, Batoul, Albahkali, Sarah, Al Balwi, Mohammed, Benabdelkamel, Hicham, Masood, Afshan, Ali, Rizwan, Almuaysib, Amani, Al Mahri, Saeed, Mohamm

Journal:

Frontiers in Cell and Developmental Biology

Year:

2020

Language:

english

File:

PDF, 1.89 MB

english, 2020

21

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder

Schneeberger, Pauline E, KortÃ¼m, Fanny, Korenke, Georg Christoph, Alawi, Malik, Santer, RenÃ©, Woidy, Mathias, Buhas, Daniela, Fox, Stephanie, Juusola, Jane, Alfadhel, Majid, Webb, Bryn D, Coci, Eman

Journal:

Year:

2020

File:

PDF, 1.08 MB

2020

22

Infantile cardioencephalopathy due to a COX15 gene defect: Report and review

Majid Alfadhel, Yolanda P. Lillquist, Paula J. Waters, Graham Sinclair, Eduard Struys, Deborah McFadden, Glenda Hendson, Lauren Hyams, John Shoffner, Hilary D. Vallance

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 612 KB

english, 2011

23

Clinical and Molecular Characteristics of Mitochondrial DNA Depletion Syndrome Associated with Neonatal Cholestasis and Liver Failure

Al-Hussaini, Abdulrahman, Faqeih, Eissa, El-Hattab, Ayman W., Alfadhel, Majid, Asery, Ali, Alsaleem, Badr, Bakhsh, Eman, Ali, Ashraf, Alasmari, Ali, Lone, Khurram, Nahari, Ahmed, Eyaid, Wafaa, Al Balw

Journal:

The Journal of Pediatrics

Year:

2014

Language:

english

File:

PDF, 1.23 MB

english, 2014

24

SLC19A3 Gene Defects Sorting the Phenotype and Acronyms: Review

Alfadhel, Majid, Tabarki, Brahim

Journal:

Neuropediatrics

Year:

2017

Language:

english

File:

PDF, 245 KB

english, 2017

25

KIF16B is a candidate gene for a novel autosomal-recessive intellectual disability syndrome

Alsahli, Saud, Arold, Stefan T., Alfares, Ahmed, Alhaddad, Bader, Al Balwi, Mohammed, Kamsteeg, Erik-Jan, Al-Twaijri, Waleed, Alfadhel, Majid

Journal:

American Journal of Medical Genetics Part A

Year:

2018

Language:

english

File:

PDF, 854 KB

english, 2018

26

Pre- and postnatal findings in a boy with duplication of the bladder and intestine: Report and review

Majid Alfadhel, Denise Pugash, Ashley James Robinson, James J. Murphy, Christof Senger, Kourosh Afshar, Linlea Armstrong

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 217 KB

english, 2009

27

Treatment of biotin-responsive basal ganglia disease: Open comparative study between the combination of biotin plus thiamine versus thiamine alone

Tabarki, Brahim, Alfadhel, Majid, AlShahwan, Saad, Hundallah, Khaled, AlShafi, Shatha, AlHashem, Amel

Journal:

European Journal of Paediatric Neurology

Year:

2015

Language:

english

File:

PDF, 456 KB

english, 2015

28

Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families

Sass, Jörn Oliver, Gemperle-Britschgi, Corinne, Tarailo-Graovac, Maja, Patel, Nisha, Walter, Melanie, Jordanova, Albena, Alfadhel, Majid, Barić, Ivo, Çoker, Mahmut, Damli-Huber, Aynur, Faqeih, Eissa A

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 297 KB

english, 2016

29

Utilizing Whole-Exome Sequencing to Characterize the Phenotypic Variability of Sickle Cell Disease

Alsultan, Abdulrahman, Al-Suliman, Ahmed M., Aleem, Aamer, AlGahtani, Farjah H., Alfadhel, Majid

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2018

Language:

english

File:

PDF, 142 KB

english, 2018

30

Early Infantile Leigh-like SLC19A3 Gene Defects Have a Poor Prognosis: Report and Review

Alfadhel, Majid

Journal:

Journal of Central Nervous System Disease

Year:

2017

Language:

english

File:

PDF, 210 KB

english, 2017

31

Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings

Al-Rakan, Maha A., Abothnain, Manal D., Alrifai, Muhammad T., Alfadhel, Majid

Journal:

BMC Ophthalmology

Year:

2018

Language:

english

File:

PDF, 690 KB

english, 2018

32

Novel homozygous mutation in the WWOX gene causes seizures and global developmental delay: Report and review

Ehaideb, Salleh N., Al-Bu Ali, Majed J., Al-obaid, Jaafer J., Aljassim, Kareemah M., Alfadhel, Majid

Journal:

Translational Neuroscience

File:

PDF, 229 KB

33

A homozygous missense variant in the homeobox domain of the NKX6â2 results in progressive spastic ataxia type 8 associated with lower limb weakness and neurological manifestations

Almatrafi, Ahmad, Umair, Muhammad, Eldardear, Amr, AlâLuqmani, Majid, Hashmi, Jamil A., Albalawi, Alia M., Alfadhel, Majid, Ramzan, Khushnooda, Basit, Sulman

Journal:

The Journal of Gene Medicine

Year:

2020

File:

PDF, 808 KB

2020

34

Eighteen-year follow-up of a patient with cobalamin F disease (cblF): Report and review

Majid Alfadhel, Yolanda P. Lillquist, Cynthia Davis, Anne K. Junker, Sylvia Stockler-Ipsiroglu

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 107 KB

english, 2011

35

Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10

Khan, Amjad, Wang, Rongrong, Han, Shirui, Umair, Muhammad, Abbas, Safdar, Khan, Muhammad Ismail, Alshabeeb, Mohammad A., Alfadhel, Majid, Zhang, Xue

Journal:

BMC Medical Genetics

Year:

2019

Language:

english

File:

PDF, 2.94 MB

english, 2019

36

Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans

Alfadhel, Majid, Nashabat, Marwan, Qahtani, Hanan Al, Alfares, Ahmed, Mutairi, Fuad Al, Shaalan, Hesham Al, Douglas, Ganka V., Wierenga, Klaas, Juusola, Jane, Alrifai, Muhammad Talal, Arold, Stefan T.

Journal:

Year:

2016

Language:

english

File:

PDF, 718 KB

english, 2016

37

ALG13-CDG in a male with seizures, normal cognitive development, and normal transferrin isoelectric focusing

Gadomski, Therese E., Bolton, Melody, Alfadhel, Majid, Dvorak, Chris, Ogunsakin, Olalekan A., Nelson, Stephen L., Morava, Eva

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 292 KB

english, 2017

38

Psychological Assessment of Patients With Biotin-Thiamine-Responsive Basal Ganglia Disease

Alfadhel, Majid, Al-Bluwi, Amal

Journal:

Child Neurology Open

Year:

2017

Language:

english

File:

PDF, 129 KB

english, 2017

39

Aromatic Amino Acid Decarboxylase Deficiency Not Responding to Pyridoxine and Bromocriptine Therapy: Case Report and Review of Response to Treatment

Alfadhel, Majid, Kattan, Rana

Journal:

Journal of Central Nervous System Disease

Year:

2014

Language:

english

File:

PDF, 391 KB

english, 2014

40

Spectrum of mutations underlying Propionic acidemia and further insight into a genotype-phenotype correlation for the common mutation in Saudi Arabia

Al-Hamed, Mohamed H., Imtiaz, Faiqa, Al-Hassnan, Zuhair, Al-Owain, Mohammed, Al-Zaidan, Hamad, Alamoudi, Mohamed S., Faqeih, Eissa, Alfadhel, Majid, Al-Asmari, Ali, Saleh, M.M., Almutairi, Fuad, Moghr

Journal:

Molecular Genetics and Metabolism Reports

Year:

2019

Language:

english

File:

PDF, 2.24 MB

english, 2019

41

Exome sequencing revealed a novel loss‐of‐function variant in the GLI3 transcriptional activator 2 domain underlies nonsyndromic postaxial polydactyly

Umair, Muhammad, Wasif, Naveed, Albalawi, Alia M., Ramzan, Khushnooda, Alfadhel, Majid, Ahmad, Wasim, Basit, Sulman

Journal:

Molecular Genetics & Genomic Medicine

Year:

2019

Language:

english

File:

PDF, 582 KB

english, 2019

42

Biallelic SCN2A Gene Mutation Causing Early Infantile Epileptic Encephalopathy: Case Report and Review

AlSaif, Shahad, Umair, Muhammad, Alfadhel, Majid

Journal:

Journal of Central Nervous System Disease

Year:

2019

Language:

english

File:

PDF, 174 KB

english, 2019

43

Early-Onset Parkinsonism in a 5-year-old Child: Report and Review

Al-Rumayyan, Ahmed, Klein, Christine, Alfadhel, Majid

Journal:

Pediatric Neurology

Year:

2015

Language:

english

File:

PDF, 469 KB

english, 2015

44

Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype

Eyaid, Wafaa, Al Harbi, Talal, Anazi, Shamsa, Wamelink, Mirjam M. C., Jakobs, Cornelis, Al Salammah, Mohammad, Al Balwi, Mohammed, Alfadhel, Majid, Alkuraya, Fowzan S.

Journal:

Journal of Inherited Metabolic Disease

Year:

2013

Language:

english

File:

PDF, 461 KB

english, 2013

45

Loss-of-function mutation in RUSC2 causes intellectual disability and secondary microcephaly

Alwadei, Ali H, Benini, Ruba, Mahmoud, Adel, Alasmari, Ali, Kamsteeg, Erik-Jan, Alfadhel, Majid

Journal:

Developmental Medicine & Child Neurology

Year:

2016

Language:

english

File:

PDF, 398 KB

english, 2016

46

Early onset of Fazio-Londe syndrome: the first case report from the Arabian Peninsula

Hossain, Mohammad Arif, Obaid, Abdulrahman, Rifai, Mohammad, Alem, Hala, Hazwani, Tarek, Al Shehri, Ali, Alfadhel, Majid, Eto, Yoshikatsu, Eyaid, Wafaa

Journal:

Human Genome Variation

Year:

2017

Language:

english

File:

PDF, 684 KB

english, 2017

47

Pulmonary hypertension and vasculopathy in incontinentia pigmenti: a case report

Alshenqiti, Abduljabbar, Nashabat, Marwan, AlGhoraibi, Hissah, Tamimi, Omar, Alfadhel, Majid

Journal:

Therapeutics and Clinical Risk Management

Year:

2017

Language:

english

File:

PDF, 2.20 MB

english, 2017

48

Extreme intrafamilial variability of Saudi brothers with primary hyperoxaluria type 1

Alfadhel, Majid, Al Hasan,, Alotaibi,, Al Fakeeh,

Journal:

Therapeutics and Clinical Risk Management

Year:

2012

Language:

english

File:

PDF, 407 KB

english, 2012

49

Spectrum of mutations underlying Propionic acidemia and further insight into a genotype-phenotype correlation for the common mutation in Saudi Arabia

Al-Hamed, Mohamed H., Imtiaz, Faiqa, Al-Hassnan, Zuhair, Al-Owain, Mohammed, Al-Zaidan, Hamad, Alamoudi, Mohamed S., Faqeih, Eissa, Alfadhel, Majid, Al-Asmari, Ali, Saleh, M.M., Almutairi, Fuad, Moghr

Journal:

Molecular Genetics and Metabolism Reports

Year:

2019

File:

PDF, 2.24 MB

2019

50

Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10

Khan, Amjad, Wang, Rongrong, Han, Shirui, Umair, Muhammad, Abbas, Safdar, Khan, Muhammad Ismail, Alshabeeb, Mohammad A., Alfadhel, Majid, Zhang, Xue

Journal:

BMC Medical Genetics

Year:

2019

File:

PDF, 2.94 MB

2019

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