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1

Osteogenesis imperfecta type III with intracranial hemorrhage and brachydactyly associated with mutations in exon 49 of COL1A2

Eissa Faqeih, Peter Roughley, Francis H. Glorieux, Frank Rauch

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 174 KB

english, 2009

2

Oral Corrective Feedback and Learning of English Modals

Haifaa, Faqeih, Emma, Marsden

Journal:

Procedia - Social and Behavioral Sciences

Year:

2014

Language:

english

File:

PDF, 485 KB

english, 2014

3

WNT1 mutation with recessive osteogenesis imperfecta and profound neurological phenotype

Faqeih, E., Shaheen, R., Alkuraya, F. S.

Journal:

Journal of Medical Genetics

Year:

2013

Language:

english

File:

PDF, 159 KB

english, 2013

4

Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families

Alazami, Anas M., Patel, Nisha, Shamseldin, Hanan E., Anazi, Shamsa, Al-Dosari, Mohammed S., Alzahrani, Fatema, Hijazi, Hadia, Alshammari, Muneera, Aldahmesh, Mohammed A., Salih, Mustafa A., Faqeih, E

Journal:

Year:

2015

Language:

english

File:

PDF, 1.56 MB

english, 2015

5

A novel APC mutation defines a second locus for Cenani-Lenz syndrome

Patel, N., Faqeih, E., Anazi, S., Alfawareh, M., Wakil, S. M., Colak, D., Alkuraya, F. S.

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 3.47 MB

english, 2015

6

Phenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPD

Picker-Minh, Sylvie, Mignot, Cyril, Doummar, Diane, Hashem, Mais, Faqeih, Eissa, Josset, Patrice, Dubern, Béatrice, Alkuraya, Fowzan S., Kraemer, Nadine, Kaindl, Angela M.

Journal:

Orphanet Journal of Rare Diseases

Year:

2016

Language:

english

File:

PDF, 3.28 MB

english, 2016

7

FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance

Almannai, Mohammed, Wang, Julia, Dai, Hongzheng, El-Hattab, Ayman W., Faqeih, Eissa A., Saleh, Mohammed A., Al Asmari, Ali, AlWadei, Ali H., Aljadhai, Yaser I., AlHashem, Amal, Tabarki, Brahim M., Lin

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 12.77 MB

english, 2018

8

Meier-Gorlin (ear-patella-short stature) syndrome: Growth hormone deficiency and previously unrecognized findings

Eissa Faqeih, Nadia Sakati, Ahmad S. Teebi

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 94 KB

english, 2005

9

Four siblings with distal renal tubular acidosis and nephrocalcinosis, neurobehavioral impairment, short stature, and distinctive facial appearance: A possible new autosomal recessive syndrome

Eissa Faqeih, Samhar I. Al-Akash, Nadia Sakati, Prof. Ahmad S. Teebi

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 329 KB

english, 2007

10

Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans

Ranad Shaheen, Mohammed Al-Owain, Eissa Faqeih, Nadia Al-Hashmi, Ali Awaji, Zayed Al-Zayed, Fowzan S Alkuraya

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 3.12 MB

english, 2011

11

Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2

Stuart W. Tompson, Eissa Ali Faqeih, Leena Ala-Kokko, Jacqueline T. Hecht, Rika Miki, Tara Funari, Vincent A. Funari, Lisette Nevarez, Deborah Krakow, Daniel H. Cohn

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 214 KB

english, 2012

12

A TCTN2 mutation defines a novel Meckel Gruber syndrome locus

Ranad Shaheen, Eissa Faqeih, Mohammed Z. Seidahmed, Asma Sunker, Faten Ezzat Alali, AlQahtani Khadijah, Fowzan S. Alkuraya

Journal:

Year:

2011

Language:

english

File:

PDF, 298 KB

english, 2011

13

Determination of succinylacetone in dried blood spots and liquid urine as a dansylhydrazone by liquid chromatography tandem mass spectrometry

Osama Y. Al-Dirbashi, Mohamed S. Rashed, Herman J. Ten Brink, Cornelis Jakobs, Najlaa Filimban, Lujane Y. Al-Ahaidib, Minnie Jacob, Moeen M. Al-Sayed, Zuhair Al-Hassnan, Eissa Faqeih

Journal:

Journal of Chromatography B

Year:

2006

Language:

english

File:

PDF, 157 KB

english, 2006

14

Grebe-type chondrodysplasia: a novel missense mutation in a conserved cysteine of the growth differentiation factor 5

Muhammad Faiyaz-Ul-Haque, Eissa A. Faqeih, Hamad Al-Zaidan, Amal Al-Shammary, Syed H. E. Zaidi

Journal:

Journal of Bone and Mineral Metabolism

Year:

2008

Language:

english

File:

PDF, 366 KB

english, 2008

15

Recessive Mutations in DOCK6, Encoding the Guanidine Nucleotide Exchange Factor DOCK6, Lead to Abnormal Actin Cytoskeleton Organization and Adams-Oliver Syndrome

Ranad Shaheen, Eissa Faqeih, Asma Sunker, Heba Morsy, Tarfa Al-Sheddi, Hanan E. Shamseldin, Nouran Adly, Mais Hashem, Fowzan S. Alkuraya.

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 709 KB

english, 2011

16

3M Syndrome: An Easily Recognizable yet Underdiagnosed Cause of Proportionate Short Stature

Mohammed S. Al-Dosari, Muneera Al-Shammari, Ranad Shaheen, Eissa Faqeih, Mohammed A. AlGhofely, Ahmad Boukai, Fowzan S. Alkuraya

Journal:

The Journal of Pediatrics

Year:

2012

Language:

english

File:

PDF, 1.21 MB

english, 2012

17

Smith–Lemli–Opitz syndrome among Arabs

M Al-Owain, F Imtiaz, T Shuaib, A Edrees, M Al-Amoudi, N Sakati, Z Al-Hassnan, H Bamashmous, Z Rahbeeni, S Al-Ameer, E Faqeih, B Meyer, A Al-Hashem, W Garout, A Al-Odaib, M Rashed, JY Al-Aama

Journal:

Clinical Genetics

Year:

2012

Language:

english

File:

PDF, 637 KB

english, 2012

18

Mutations in MEOX1, Encoding Mesenchyme Homeobox 1, Cause Klippel-Feil Anomaly

Mohamed, Jawahir Y., Faqeih, Eissa, Alsiddiky, Abdulmonem, Alshammari, Muneera J., Ibrahim, Niema A., Alkuraya, Fowzan S.

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 804 KB

english, 2013

19

POC1A Truncation Mutation Causes a Ciliopathy in Humans Characterized by Primordial Dwarfism

Ranad Shaheen, Eissa Faqeih, Hanan E. Shamseldin, Ramil R. Noche, Asma Sunker, Muneera J. Alshammari, Tarfa Al-Sheddi, Nouran Adly, Mohammed S. Al-Dosari, Sean G. Megason, Muneera Al-Husain, Futwan Al

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 683 KB

english, 2012

20

A truncating mutation inB3GNT1causes severe Walker–Warburg syndrome

Ranad Shaheen, Eissa Faqeih, Shinu Ansari, Fowzan S. Alkuraya

Journal:

Year:

2013

Language:

english

File:

PDF, 200 KB

english, 2013

21

Mutations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance

Bonnen, Penelope E., Yarham, John W., Besse, Arnaud, Wu, Ping, Faqeih, Eissa A., Al-Asmari, Ali Mohammad, Saleh, Mohammad A.M., Eyaid, Wafaa, Hadeel, Alrukban, He, Langping, Smith, Frances, Yau, Shu,

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 53 KB

english, 2013

22

Mutations in EOGT Confirm the Genetic Heterogeneity of Autosomal-Recessive Adams-Oliver Syndrome

Shaheen, Ranad, Aglan, Mona, Keppler-Noreuil, Kim, Faqeih, Eissa, Ansari, Shinu, Horton, Kim, Ashour, Adel, Zaki, Maha S., Al-Zahrani, Fatema, Cueto-González, Anna M., Abdel-Salam, Ghada, Temtamy, Sam

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 956 KB

english, 2013

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

The expression of the gene seems to determine severity of cardiac involvement in geleophysic dysplasia

Elhoury, M.E., Faqeih, Eissa, Galal, M.O.

Journal:

Journal of the Saudi Heart Association (SAUDI ARABIA)

Year:

2013

Language:

english

File:

PDF, 44 KB

english, 2013

25

Neu-Laxova Syndrome, an Inborn Error of Serine Metabolism, Is Caused by Mutations in PHGDH

Shaheen, Ranad, Rahbeeni, Zuhair, Alhashem, Amal, Faqeih, Eissa, Zhao, Qi, Xiong, Yong, Almoisheer, Agaadir, Al-Qattan, Sarah M., Almadani, Halima A., Al-Onazi, Noufa, Al-Baqawi, Badi S., Saleh, Moham

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 1.58 MB

english, 2014

26

Exome Sequencing Identifies INPPL1 Mutations as a Cause of Opsismodysplasia

Huber, Céline, Faqeih, Eissa Ali, Bartholdi, Deborah, Bole-Feysot, Christine, Borochowitz, Zvi, Cavalcanti, Denise P., Frigo, Amandine, Nitschke, Patrick, Roume, Joelle, Santos, Heloísa G., Shalev, St

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 310 KB

english, 2013

27

Mutations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance

Bonnen, Penelope E., Yarham, John W., Besse, Arnaud, Wu, Ping, Faqeih, Eissa A., Al-Asmari, Ali Mohammad, Saleh, Mohammad A.M., Eyaid, Wafaa, Hadeel, Alrukban, He, Langping, Smith, Frances, Yau, Shu,

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1.77 MB

english, 2013

28

Genomic analysis of Meckel–Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes

Shaheen, Ranad, Faqeih, Eissa, Alshammari, Muneera J, Swaid, Abdulrahman, Al-Gazali, Lihadh, Mardawi, Elham, Ansari, Shinu, Sogaty, Sameera, Seidahmed, Mohammed Z, AlMotairi, Muhammed I, Farra, Chanta

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1.47 MB

english, 2013

29

Sphingolipid Activator Protein B Deficiency: Report of 9 Saudi Patients and Review of the Literature

Al-Hassnan, Z. N., Al Dhalaan, H., Patay, Z., Faqeih, E., Al-Owain, M., Al-Duraihem, A., Faiyaz-Ul-Haque, M.

Journal:

Journal of Child Neurology

Year:

2009

Language:

english

File:

PDF, 381 KB

english, 2009

30

Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly

Faqeih, Eissa A., Al-Owain, Mohammed, Colak, Dilek, Kenana, Rosan, Al-Yafee, Yusra, Al-Dosary, Mazhor, Al-Saman, Abdulaziz, Albalawi, Fadwa, Al-Sarar, Dalia, Domiaty, Dalia, Daghestani, Maha, Kaya, Na

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 2.44 MB

english, 2014

31

A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families

Al-Hamed, Mohamed H, Al-Sabban, Essam, Al-Mojalli, Hamad, Al-Harbi, Naffaa, Faqeih, Eissa, Al Shaya, Hammad, Alhasan, Khalid, Al-Hissi, Safaa, Rajab, Mohamed, Edwards, Noel, Al-Abbad, Abbas, Al-Hassou

Journal:

Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1.25 MB

english, 2013

32

Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus

Sparrow, Duncan B., Faqeih, Eissa Ali, Sallout, Bahauddin, Alswaid, Abdulrahman, Ababneh, Faroug, Al-Sayed, Moeenaldeen, Rukban, Hadeel, Eyaid, Wafaa M., Kageyama, Ryoichiro, Ellard, Sian, Turnpenny,

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 388 KB

english, 2013

33

Marshall syndrome: Further evidence of a distinct phenotypic entity and report of new findings

Khalifa, O., Imtiaz, F., Ramzan, K., Allam, R., Hemidan, A. Al-, Faqeih, E., Abuharb, G., Balobaid, A., Sakati, N., Owain, M. Al-

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 331 KB

english, 2014

34

Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation

Shaheen, R., Alazami, A. M., Alshammari, M. J., Faqeih, E., Alhashmi, N., Mousa, N., Alsinani, A., Ansari, S., Alzahrani, F., Al-Owain, M., Alzayed, Z. S., Alkuraya, F. S.

Journal:

Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 491 KB

english, 2012

35

ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder

Al-Hassnan, Z. N., Al-Dosary, M., Alfadhel, M., Faqeih, E. A., Alsagob, M., Kenana, R., Almass, R., Al-Harazi, O. S., Al-Hindi, H., Malibari, O. I., Almutari, F. B., Tulbah, S., Alhadeq, F., Al-Sheddi

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 5.47 MB

english, 2015

36

A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B

Alazami, Anas M, Kentab, Amal Y, Faqeih, Eissa, Mohamed, Jawahir Y, Alkhalidi, Hisham, Hijazi, Hadia, Alkuraya, Fowzan S

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 2.45 MB

english, 2015

37

Cardiac involvement in geleophysic dysplasia in three siblings of a Saudi family

Elhoury, Motea E., Faqeih, Eissa, Almoukirish, Abdulrahman S., Galal, Mohammed O.

Journal:

Cardiology in the Young

Year:

2015

Language:

english

File:

PDF, 362 KB

english, 2015

38

Infantile Systemic Hyalinosis Complicated with Right Atrial Thrombus and Pericardial Effusion in an Infant

Mohamed, Sarar, Ahmed, Wafa, Al-Jurayyan, Nasir, Faqeih, Eisa, Al-Nemri, Abdulrahman, Al-Ghamdi, Mohamed

Journal:

Pediatrics & Neonatology

Year:

2014

Language:

english

File:

PDF, 627 KB

english, 2014

39

Genomic analysis of primordial dwarfism reveals novel disease genes

Shaheen, R., Faqeih, E., Ansari, S., Abdel-Salam, G., Al-Hassnan, Z. N., Al-Shidi, T., Alomar, R., Sogaty, S., Alkuraya, F. S.

Journal:

Genome Research

Year:

2014

Language:

english

File:

PDF, 1.58 MB

english, 2014

40

A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies

Shaheen, R., Schmidts, M., Faqeih, E., Hashem, A., Lausch, E., Holder, I., Superti-Furga, A., Mitchison, H. M., Almoisheer, A., Alamro, R., Alshiddi, T., Alzahrani, F., Beales, P. L., Alkuraya, F. S.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 907 KB

english, 2015

41

ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6)

Patel, N., Smith, L. L., Faqeih, E., Mohamed, J., Gupta, V. A., Alkuraya, F. S.

Journal:

Human Molecular Genetics

Year:

2014

Language:

english

File:

PDF, 1.20 MB

english, 2014

42

Identification of a novel MKS locus defined by TMEM107 mutation

Shaheen, Ranad, Almoisheer, Agaadir, Faqeih, Eissa, Babay, Zainab, Monies, Dorota, Tassan, Nada, Abouelhoda, Mohamed, Kurdi, Wesam, Al Mardawi, Elham, Khalil, Mohamed M.I., Seidahmed, Mohammed Zain, A

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 569 KB

english, 2015

43

Learners’ Attitudes towards Corrective Feedback

Faqeih, Haifaa I

Journal:

Procedia - Social and Behavioral Sciences

Year:

2015

Language:

english

File:

PDF, 470 KB

english, 2015

44

Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy

Shamseldin, Hanan E., Faqeih, Eissa, Alasmari, Ali, Zaki, Maha S., Gleeson, Joseph G., Alkuraya, Fowzan S.

Journal:

The American Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 1.16 MB

english, 2016

45

Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue

Alazami, Anas M., Al-Qattan, Sarah M., Faqeih, Eissa, Alhashem, Amal, Alshammari, Muneera, Alzahrani, Fatema, Al-Dosari, Mohammed S., Patel, Nisha, Alsagheir, Afaf, Binabbas, Bassam, Alzaidan, Hamad,

Journal:

Year:

2016

Language:

english

File:

PDF, 5.91 MB

english, 2016

46

A homozygous truncating mutation inPUS3expands the role of tRNA modification in normal cognition

Shaheen, Ranad, Han, Lu, Faqeih, Eissa, Ewida, Nour, Alobeid, Eman, Phizicky, Eric M., Alkuraya, Fowzan S.

Journal:

Year:

2016

Language:

english

File:

PDF, 3.57 MB

english, 2016

47

Familial pseudotail, scoliosis and synpolydactyly syndrome

Alfawareh, Mohammad, Orief, Tamer, Faqeih, Eissa

Journal:

European Spine Journal

Year:

2016

Language:

english

File:

PDF, 1.36 MB

english, 2016

48

Crisponi/CISS1 syndrome: A case series

Alhashem, Amal M., Majeed-Saidan, Muhammad Ali, Ammari, Amer N., Alrakaf, Maha S., Nojoom, Maha, Maddirevula, Sateesh, Faqeih, Eissa, Alkuraya, Fowzan S., Garne, Ester, Kurdi, Ahmad M.

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 455 KB

english, 2016

49

Novel copy number variants and major limb reduction malformation: Report of three cases

Shamseldin, Hanan E., Anazi, Shams, Wakil, Salma M., Faqeih, Eissa, El Khashab, Heba Y., Salih, Mustafa A., Al-Qattan, Mohammad M., Hashem, Mais, Alsedairy, Haifa, Alkuraya, Fowzan S.

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 4.55 MB

english, 2016

50

ADAT3 -related intellectual disability: Further delineation of the phenotype

El-Hattab, Ayman W., Saleh, Mohammed A., Hashem, Amal, Al-Owain, Mohammed, Asmari, Ali Al, Rabei, Hala, Abdelraouf, Hanem, Hashem, Mais, Alazami, Anas M., Patel, Nisha, Shaheen, Ranad, Faqeih, Eissa A

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 323 KB

english, 2016