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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

New subtype of familial intracranial calcification in a mother and two children

Mahmoud F. Elsaid, Yanick J. Crow, John H. Livingston, Tawfeg Ben-Omran

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 137 KB

english, 2010

3

Glutamine supplementation in a child with inherited GS deficiency improves the clinical status and partially corrects the peripheral and central amino acid imbalance

Johannes Häberle, Noora Shahbeck, Khalid Ibrahim, Bernhard Schmitt, Ianina Scheer, Ruth O’Gorman, Farrukh A Chaudhry, Tawfeg Ben-Omran

Journal:

Orphanet Journal of Rare Diseases

Year:

2012

Language:

english

File:

PDF, 622 KB

english, 2012

4

Mutations in zinc finger 407 [ZNF407] cause a unique autosomal recessive cognitive impairment syndrome

Kambouris, Marios, Maroun, Rachid C, Ben-Omran, Tawfeg, Al-Sarraj, Yasser, Errafii, Khaoula, Ali, Rehab, Boulos, Hala, Curmi, Patrick A, El-Shanti, Hatem

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 381 KB

english, 2014

5

Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice

Shaheen, Ranad, Anazi, Shams, Ben-Omran, Tawfeg, Seidahmed, Mohammed Zain, Caddle, L. Brianna, Palmer, Kristina, Ali, Rehab, Alshidi, Tarfa, Hagos, Samya, Goodwin, Leslie, Hashem, Mais, Wakil, Salma M

Journal:

The American Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 1.91 MB

english, 2016

6

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

7

Mutations in Known Disease Genes Account for the Majority of Autosomal Recessive Retinal Dystrophies

Patel, Nisha, Alkuraya, Hisham, Alzahrani, Shahad Sharaf, Nowilaty, Sawsan R., Seidahmed, Mohammed Zain, Alhomedan, Amal, Ben-Omran, Tawfeg, Ghazi, Nicola G., Al-Aqeel, Aida, Al-Owain, Mohammed, Alzai

Journal:

Clinical Genetics

Year:

2018

Language:

english

File:

PDF, 1.11 MB

english, 2018

8

Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome

Cozma, Claudia, Hovakimyan, Marina, Iurașcu, Marius-Ionuț, Makhseed, Nawal, Selim, Laila A., Alhashem, Amal M., Ben-Omran, Tawfeg, Mahmoud, Iman G., Al Menabawy, Nihal M., Al-Mureikhi, Mariam, Martin,

Journal:

Orphanet Journal of Rare Diseases

Year:

2019

Language:

english

File:

PDF, 1.34 MB

english, 2019

9

Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome

Cozma, Claudia, Hovakimyan, Marina, Iurașcu, Marius-Ionuț, Makhseed, Nawal, Selim, Laila A., Alhashem, Amal M., Ben-Omran, Tawfeg, Mahmoud, Iman G., Al Menabawy, Nihal M., Al-Mureikhi, Mariam, Martin,

Journal:

Orphanet Journal of Rare Diseases

Year:

2019

File:

PDF, 1.34 MB

2019

10

Structural central nervous system (CNS) anomalies in Kabuki syndrome

T. Ben-Omran, Ahmad S. Teebi

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 114 KB

english, 2005

11

A patient with mutations in DNA Ligase IV: Clinical features and overlap with Nijmegen breakage syndrome

Tawfeg I. Ben-Omran, Karen Cerosaletti, Patrick Concannon, Sheila Weitzman, Marjan M. Nezarati

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 111 KB

english, 2005

12

Late-onset cobalamin-C disorder: A challenging diagnosis

Tawfeg I. Ben-Omran, Hubert Wong, Susan Blaser, Annette Feigenbaum

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 232 KB

english, 2007

13

Further delineation of the Van den Ende–Gupta syndrome

Rehab Ali, Mariam Almureikhi, Fatima Al-Musaifri, Venkatraman Bhat, Ahmad Teebi, Tawfeg Ben-Omran

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 296 KB

english, 2010

14

Phenotypic heterogeneity in Woodhouse–Sakati syndrome: Two new families with a mutation in the C2orf37 gene

Tawfeg Ben-Omran, Rehab Ali, Mariam Almureikhi, Seham Alameer, Muna Al-Saffar, Christopher A. Walsh, Jillian M. Felie, Ahmad Teebi

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 160 KB

english, 2011

15

Array-based genomic delineation of a familial duplication 11q14.1–q22.1 associated with recurrent depression

Elena Kolomietz, Tawfeg Ben-Omran, David Chitayat, Mimi Mah, Jillian Murphy, Gloria Nie, Ikuko Teshima

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2006

Language:

english

File:

PDF, 207 KB

english, 2006

16

Molecular neonatal screening for homocystinuria in the Qatari population

Johannes Zschocke, Moustafa Kebbewar, Hongying Gan-Schreier, Christine Fischer, Junmin Fang-Hoffmann, Julia Wilrich, Ghassan Abdoh, Tawfeg Ben-Omran, Noora Shahbek, Martin Lindner, Hilal Al Rifai, Abd

Journal:

Year:

2009

Language:

english

File:

PDF, 94 KB

english, 2009

17

Lissencephaly, IgG subclass immunodeficiency, and a connective tissue disorder: a new syndrome?

Mohammad S. Ehlayel, Tawfeg Ben-Omran, Venkatraman Bhat, Ahmad S. Teebi

Journal:

Journal of Neurology

Year:

2009

Language:

english

File:

PDF, 223 KB

english, 2009

18

Neonatal severe hyperparathyroidism: further clinical and molecular delineation

Fawziya A. Al-Khalaf, Adel Ismail, Ashraf T. Soliman, David E. C. Cole, Tawfeg Ben-Omran

Journal:

European Journal of Pediatrics

Year:

2011

Language:

english

File:

PDF, 135 KB

english, 2011

19

Atypical phenotype in a boy with a maple syrup urine disease

T. I. Ben-Omran, S. Blaser, H. Phillips, J. Callahan, A. Feigenbaum

Journal:

Journal of Inherited Metabolic Disease

Year:

2006

Language:

english

File:

PDF, 372 KB

english, 2006

20

Implementation of extended neonatal screening and a metabolic unit in the State of Qatar: Developing and optimizing strategies in cooperation with the Neonatal Screening Center in Heidelberg

M. Lindner, G. Abdoh, J. Fang-Hoffmann, N. Shabeck, M. Al Sayrafi, M. Al Janahi, S. Ho, M. O. Abdelrahman, T. Ben-Omran, A. Bener, A. Schulze, H. Al Rifai, G. Al Thani, G. F. Hoffmann

Journal:

Journal of Inherited Metabolic Disease

Year:

2007

Language:

english

File:

PDF, 297 KB

english, 2007

21

A series of pregnancies in women with inherited metabolic disease

Janneke G Langendonk, Jonathan CP Roos, Lindsay Angus, Monique Williams, François PJ Karstens, Johannes BC de Klerk, Charlé Maritz, Tawfeg Ben-Omran, Catherine Williamson, Robin H Lachmann, Elaine Mur

Journal:

Journal of Inherited Metabolic Disease

Year:

2012

Language:

english

File:

PDF, 125 KB

english, 2012

22

Mutations in SCARF2 Are Responsible for Van Den Ende-Gupta Syndrome

Natascia Anastasio, Tawfeg Ben-Omran, Ahmad Teebi, Kevin C.H. Ha, Emilie Lalonde, Rehab Ali, Mariam Almureikhi, Vazken M. Der Kaloustian, Junhui Liu, David S. Rosenblatt, Jacek Majewski, Loydie A. Jer

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 639 KB

english, 2010

23

Newborn Population Screening for Classic Homocystinuria by Determination of Total Homocysteine from Guthrie Cards

Hongying Gan-Schreier, Moustafa Kebbewar, Junmin Fang-Hoffmann, Julia Wilrich, Ghassan Abdoh, Tawfeg Ben-Omran, Noora Shahbek, Abdulbari Bener, Hilal Al Rifai, Abdul Latif Al Khal, Martin Lindner, Joh

Journal:

The Journal of Pediatrics

Year:

2010

Language:

english

File:

PDF, 171 KB

english, 2010

24

Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy

Novarino, G., El-Fishawy, P., Kayserili, H., Meguid, N. A., Scott, E. M., Schroth, J., Silhavy, J. L., Kara, M., Khalil, R. O., Ben-Omran, T., Ercan-Sencicek, A. G., Hashish, A. F., Sanders, S. J., Gu

Journal:

Year:

2012

Language:

english

File:

PDF, 649 KB

english, 2012

25

Natural course of glutamine synthetase deficiency in a 3 year old patient

Johannes Häberle, Noora Shahbeck, Khalid Ibrahim, Georg F. Hoffmann, Tawfeg Ben-Omran

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 603 KB

english, 2011

26

Whole exome sequencing unravels disease-causing genes in consanguineous families in Qatar

Fahiminiya, S., Almuriekhi, M., Nawaz, Z., Staffa, A., Lepage, P., Ali, R., Hashim, L., Schwartzentruber, J., Abu Khadija, K., Zaineddin, S., Gamal, H., Majewski, J., Ben-Omran, T.

Journal:

Clinical Genetics

Year:

2014

Language:

english

File:

PDF, 811 KB

english, 2014

27

Field and temperature dependence of dielectric properties in -based piezoceramics

Hall, D A, Ben-Omran, M M, Stevenson, P J

Journal:

Journal of Physics Condensed Matter

Year:

1998

Language:

english

File:

PDF, 194 KB

english, 1998

28

Mutations in CSPP1 Lead to Classical Joubert Syndrome

Akizu, Naiara, Silhavy, Jennifer L., Rosti, Rasim Ozgur, Scott, Eric, Fenstermaker, Ali G., Schroth, Jana, Zaki, Maha S., Sanchez, Henry, Gupta, Neerja, Kabra, Madhulika, Kara, Majdi, Ben-Omran, Tawfe

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 1.27 MB

english, 2014

29

Whole-Exome Sequencing Identifies Mutated C12orf57 in Recessive Corpus Callosum Hypoplasia

Akizu, Naiara, Shembesh, Nuri M., Ben-Omran, Tawfeg, Bastaki, Laila, Al-Tawari, Asma, Zaki, Maha S., Koul, Roshan, Spencer, Emily, Rosti, Rasim Ozgur, Scott, Eric, Nickerson, Elizabeth, Gabriel, Stace

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 954 KB

english, 2013

30

The extended nationwide newborn screening program in the state of Qatar (in cooperation with the Neonatal Screening Centre in University Children Hospital Heidelberg-Germany) — 10year outcome

Abdoh, Ghassan M., Ben-Omran, Tawfeg, Shabeck, Noora, Ali, Rehab, Fang-Hoffmann, Junmin, Lindner, Martin, AlRifai, Hilal A., Hoffmann, Georg F.

Journal:

Clinical Biochemistry

Year:

2014

Language:

english

File:

PDF, 44 KB

english, 2014

31

Ageing of high field dielectric properties in -based piezoceramics

Hall, D A, Ben-Omran, M M

Journal:

Journal of Physics Condensed Matter

Year:

1998

Language:

english

File:

PDF, 166 KB

english, 1998

32

Whole genome sequencing identifies a novel occludin mutation in microcephaly with band-like calcification and polymicrogyria that extends the phenotypic spectrum

Elsaid, Mahmoud F., Kamel, Hussein, Chalhoub, Nader, Aziz, Nahla Abdel, Ibrahim, Khalid, Ben-Omran, Tawfeg, George, Binu, Al-Dous, Eman, Mohamoud, Yasmin, Malek, Joel A., Ross, M. Elizabeth, Aleem, Al

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 230 KB

english, 2014

33

Cono-spondylar dysplasia: Clinical, radiographic, and molecular findings of a previously unreported disorder

Ben-Omran, Tawfeg, Lakhani, Shenela, Almureikhi, Mariam, Ali, Rehab, Takahashi, Atsushi, Miyake, Noriko, Matsumoto, Naomichi, Ikegawa, Shiro, Superti-Furga, Andrea, Unger, Sheila

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 3.03 MB

english, 2014

34

Katanin p80 Regulates Human Cortical Development by Limiting Centriole and Cilia Number

Hu, Wen F., Pomp, Oz, Ben-Omran, Tawfeg, Kodani, Andrew, Henke, Katrin, Mochida, Ganeshwaran H., Yu, Timothy W., Woodworth, Mollie B., Bonnard, Carine, Raj, Grace Selva, Tan, Thong Teck, Hamamy, Hanan

Journal:

Year:

2014

Language:

english

File:

PDF, 6.63 MB

english, 2014

35

Aspartylglucosaminuria: Unusual Neonatal Presentation in Qatari Twins With a Novel Aspartylglucosaminidase Gene Mutation and 3 New Cases in a Turkish Family

Opladen, T., Ebinger, F., Zschocke, J., Sengupta, D., Ben-Omran, T., Shahbeck, N., Moog, U., Fischer, C., Burger, F., Haas, D., Ruef, P., Harting, I., Al-Rifai, H., Hoffmann, G. F.

Journal:

Journal of Child Neurology

Year:

2014

Language:

english

File:

PDF, 374 KB

english, 2014

36

Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome

Guemez-Gamboa, Alicia, Nguyen, Long N, Yang, Hongbo, Zaki, Maha S, Kara, Majdi, Ben-Omran, Tawfeg, Akizu, Naiara, Rosti, Rasim Ozgur, Rosti, Basak, Scott, Eric, Schroth, Jana, Copeland, Brett, Vaux, K

Journal:

Nature Genetics

Year:

2015

Language:

english

File:

PDF, 1.38 MB

english, 2015

37

Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome

Ben-Omran, Tawfeg, Fahiminiya, Somayyeh, Sorfazlian, Natalie, Almuriekhi, Mariam, Nawaz, Zafar, Nadaf, Javad, Abu Khadija, Kitam, Zaineddin, Samiha, Kamel, Hussein, Majewski, Jacek, Tropepe, Vincent

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 630 KB

english, 2015

38

SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors

Renkema, G Herma, Wortmann, Saskia B, Smeets, Roel J, Venselaar, Hanka, Antoine, Marion, Visser, Gepke, Ben-Omran, Tawfeg, van den Heuvel, Lambert P, Timmers, Henri J L M, Smeitink, Jan A, Rodenburg,

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 1013 KB

english, 2015

39

Secondary NAD+deficiency in the inherited defect of glutamine synthetase

Hu, Liyan, Ibrahim, Khalid, Stucki, Martin, Frapolli, Michele, Shahbeck, Noora, Chaudhry, Farrukh A., Görg, Boris, Häussinger, Dieter, Penberthy, W. Todd, Ben-Omran, Tawfeg, Häberle, Johannes

Journal:

Journal of Inherited Metabolic Disease

Year:

2015

Language:

english

File:

PDF, 722 KB

english, 2015

40

Neuronal Ceroid Lipofuscinosis in Qatar: Report of a Novel Mutation in Ceroid-Lipofuscinosis, Neuronal 5 in the Arab Population

Al-Kowari, M. K., Hassan, S., El-Said, M. F., Ben-Omran, T., Hedin, L., Mole, S. E., Badii, R.

Journal:

Journal of Child Neurology

Year:

2011

Language:

english

File:

PDF, 449 KB

english, 2011

41

Clinical Application of Whole-Exome Sequencing

Liew, Wendy K. M., Ben-Omran, Tawfeg, Darras, Basil T., Prabhu, Sanjay P., De Vivo, Darryl C., Vatta, Matteo, Yang, Yaping, Eng, Christine M., Chung, Wendy K.

Journal:

Year:

2013

Language:

english

File:

PDF, 433 KB

english, 2013

42

Hyperinsulinism-hyperammonaemia syndrome: novel mutations in the GLUD1 gene and genotype-phenotype correlations

Kapoor, R. R, Flanagan, S. E, Fulton, P., Chakrapani, A., Chadefaux, B., Ben-Omran, T., Banerjee, I., Shield, J. P, Ellard, S., Hussain, K.

Journal:

European Journal of Endocrinology

Year:

2009

Language:

english

File:

PDF, 106 KB

english, 2009

43

Intrafamilial clinical heterogeneity of CSPP1 -related ciliopathy

Ben-Omran, Tawfeg, Alsulaiman, Reem, Kamel, Hussein, Shaheen, Ranad, Alkuraya, Fowzan S.

Journal:

American Journal of Medical Genetics Part A

Year:

2015

File:

PDF, 2.40 MB

2015

44

Autosomal Recessive Inheritance of GLUT1 Deficiency Syndrome

J. Klepper, H. Scheffer, M. Elsaid, E. Kamsteeg, M. Leferink, T. Ben-omran

Year:

2009

Language:

english

File:

PDF, 282 KB

english, 2009

45

Small aminothiol compounds improve the function of Arg to Cys variant proteins: effect on the human cystathionine β-synthase p.R336C

Mendes, Marisa I.S., Smith, Desireé E.C., Vicente, João B., de Almeida, Isabel Tavares, Ben-Omran, Tawfeg, Salomons, Gajja S., Rivera, Isabel A., Leandro, Paula, Blom, Henk J.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 858 KB

english, 2015

46

Intrafamilial clinical heterogeneity of CSPP1 -related ciliopathy

Ben-Omran, Tawfeg, Alsulaiman, Reem, Kamel, Hussein, Shaheen, Ranad, Alkuraya, Fowzan S.

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 2.40 MB

english, 2015

47

De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly

Ye, Yizhou, Cho, Megan T., Retterer, Kyle, Alexander, Nora, Ben-Omran, Tawfeg, Al-Mureikhi, Mariam, Cristian, Ingrid, Wheeler, Patricia G., Crain, Carrie, Zand, Dina, Weinstein, Veronique, Vernon, Hil

Journal:

Molecular Case Studies

Year:

2015

Language:

english

File:

PDF, 1007 KB

english, 2015

48

Intracranial Calcifications in Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED) Syndrome: A Case Report and Literature Review

Alkaphoury, M., Kamel, H., Abujarir, Rawia, Ben-Omran, T.

Journal:

Journal of Pediatric Neuroradiology

Year:

2015

Language:

english

File:

PDF, 215 KB

english, 2015

49

[Society of Petroleum Engineers SPE Annual Fall Technical Conference and Exhibition - Houston, Texas (1978-10-01)] SPE Annual Fall Technical Conference and Exhibition - A Two-Dimensional, Two-Phase Compositional Model Which Uses A Moving Point Method

Ben-Omran, Abdelhay M., Green, Don W.

Language:

english

File:

PDF, 756 KB

english

50

Further supporting evidence for the SATB2 -associated syndrome found through whole exome sequencing

Zarate, Yuri A., Perry, Hazel, Ben-Omran, Tawfeg, Sellars, Elizabeth A., Stein, Quinn, Almureikhi, Mariam, Simmons, Kirk, Klein, Ophir, Fish, Jennifer, Feingold, Murray, Douglas, Jessica, Kruer, Micha

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 1019 KB

english, 2015

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