Tawfeg Ben-Omran

Affiliations
  • Sidra Medicine, Department of Pediatrics, Qatar Foundation, Doha, Qatar; Division of Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar.

Publications (41)

Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study.

Neuromuscular disorders : NMD
Avec: Darryl C De Vivo , Enrico Bertini , Kathryn J Swoboda , Wuh-Liang Hwu , Thomas O Crawford , Richard S Finkel , Janbernd Kirschner , Nancy L Kuntz , Julie A Parsons , Monique M Ryan , Russell J Butterfield , Haluk Topaloglu , Tawfeg Ben-Omran , Valeria A Sansone , Yuh-Jyh Jong , Francy Shu , John F Staropoli , Douglas Kerr , Alfred W Sandrock , Christopher Stebbins , Marco Petrillo , Gabriel Braley , Kristina Johnson , Richard Foster , Sarah Gheuens , Ishir Bhan , Sandra P Reyna , Stephanie Fradette , Wildon Farwell , Auteur inconnu

Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis.

American journal of human genetics
Avec: Jessica X Chong , Jared C Talbot , Emily M Teets , Samantha Previs , Brit L Martin , Kathryn M Shively , Colby T Marvin , Arthur S Aylsworth , Reem Saadeh-Haddad , Ulrich A Schatz , Francesca Inzana , Tawfeg Ben-Omran , Fatima Almusafri , Mariam Al-Mulla , Kati J Buckingham , Tamar Harel , Hagar Mor-Shaked , Periyasamy Radhakrishnan , Katta M Girisha , Shalini S Nayak , Anju Shukla , Klaus Dieterich , Julien Faure , John Rendu , Yline Capri , Xenia Latypova , Deborah A Nickerson , David M Warshaw , Paul M L Janssen , Auteur inconnu , Sharon L Amacher , Michael J Bamshad

Bi-allelic

Journal of medical genetics
Avec: Arisha Rasheed , Evren Gumus , Maha Zaki , Katherine Johnson , Humera Manzoor , Geneva LaForce , Danica Ross , Jennifer McEvoy-Venneri , Valentina Stanley , Sangmoon Lee , Abbir Virani , Tawfeg Ben-Omran , Joseph G Gleeson , Sadaf Naz , Ashleigh Schaffer

The first European consensus on principles of management for achondroplasia.

Orphanet journal of rare diseases
Avec: Valerie Cormier-Daire , Moeenaldeen AlSayed , Tawfeg Ben-Omran , Sérgio Bernardo de Sousa , Silvio Boero , Svein O Fredwall , Encarna Guillen-Navarro , Melita Irving , Christian Lampe , Mohamad Maghnie , Geert Mortier , Zagorka Peijin , Klaus Mohnike

Aromatic L-amino acid decarboxylase deficiency in countries in the Middle East: a case series and literature review.

European journal of pediatrics
Avec: Musaad Abukhaled , Mohammed Al Muqbil , Malak Ali Alghamdi , Khalid Hundallah , Jehan Suleiman , Tawfeg Ben-Omran , Majid Alfadhel , Mohammed Almannai , Rehab Alsaleh , Brahim Tabarki

Modern approaches to the management of homozygous familial hypercholesterolemia in the Middle East and North Africa.

Journal of clinical lipidology
Avec: Abdullah Al-Ashwal , Afaf Alsagheir , Mohammed Al Dubayee , Mutaz Al-Khnifsawi , Ahmed Al-Sarraf , Zuhier Awan , Tawfeg Ben-Omran , Saif Al-Yaarubi , Angham Almutair , Abdelhadi Habeb , Faouzi Maatouk , Manal Alshareef , Naji Kholaif , Dirk Blom

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

Orphanet journal of rare diseases
Avec: Claudia Cozma , Marina Hovakimyan , Marius-Ionuț Iurașcu , Nawal Makhseed , Laila A Selim , Amal M Alhashem , Tawfeg Ben-Omran , Iman G Mahmoud , Nihal M Al Menabawy , Mariam Al-Mureikhi , Magi Martin , Laura Demuth , Zafer Yüksel , Christian Beetz , Peter Bauer , Arndt Rolfs

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy.

Nature communications
Avec: Jennifer Friedman , Desiree E Smith , Mahmoud Y Issa , Valentina Stanley , Rengang Wang , Marisa I Mendes , Meredith S Wright , Kristen Wigby , Amber Hildreth , John R Crawford , Alanna E Koehler , Shimul Chowdhury , Shareef Nahas , Liting Zhai , Zhiwen Xu , Wing-Sze Lo , Kiely N James , Damir Musaev , Andrea Accogli , Kether Guerrero , Luan T Tran , Tarek E I Omar , Tawfeg Ben-Omran , David Dimmock , Stephen F Kingsmore , Gajja S Salomons , Maha S Zaki , Geneviève Bernard , Joseph G Gleeson

Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Thomas Besnard , Natacha Sloboda , Alice Goldenberg , Sébastien Küry , Benjamin Cogné , Flora Breheret , Eva Trochu , Solène Conrad , Marie Vincent , Wallid Deb , Xavier Balguerie , Sébastien Barbarot , Geneviève Baujat , Tawfeg Ben-Omran , Anne-Claire Bursztejn , Virginie Carmignac , Alexandre N Datta , Aline Delignières , Laurence Faivre , Betty Gardie , Jean-Louis Guéant , Paul Kuentz , Marion Lenglet , Marie-Cécile Nassogne , Vincent Ramaekers , Rhonda E Schnur , Yue Si , Erin Torti , Julien Thevenon , Pierre Vabres , Lionel Van Maldergem , Dorothea Wand , Arnaud Wiedemann , Bertrand Cariou , Richard Redon , Antonin Lamazière , Stéphane Bézieau , Francois Feillet , Bertrand Isidor

Gene therapy for spinal muscular atrophy: the Qatari experience.

Gene therapy
Avec: Hossamaldein Gaber Ali , Khalid Ibrahim , Mahmoud Fawzi Elsaid , Reem Babiker Mohamed , Mahmoud I A Abeidah , Azhar Othman Al Rawwas , Khaled Elshafey , Hajer Almulla , Karen El-Akouri , Mariam Almulla , Amna Othman , Sara Musa , Fatma Al-Mesaifri , Rehab Ali , Noora Shahbeck , Mariam Al-Mureikhi , Reem Alsulaiman , Saad Alkaabi , Tawfeg Ben-Omran

The genetic basis and the diagnostic yield of genetic testing related to nonsyndromic hearing loss in Qatar.

Scientific reports
Avec: Shaza Alkhidir , Karen El-Akouri , Nader Al-Dewik , Houssein Khodjet-El-Khil , Sarah Okashah , Nazmul Islam , Tawfeg Ben-Omran , Mashael Al-Shafai

European Achondroplasia Forum Practical Considerations for Following Adults with Achondroplasia.

Advances in therapy
Avec: Svein Fredwall , Moeenaldeen AlSayed , Tawfeg Ben-Omran , Silvio Boero , Valérie Cormier-Daire , Brigitte Fauroux , Encarna Guillén-Navarro , Florian Innig , Philip Kunkel , Christian Lampe , Mohamad Maghnie , Klaus Mohnike , Geert Mortier , Zagorka Pejin , Marco Sessa , Sérgio B Sousa , Melita Irving

Mapping the genetic landscape of treatable inherited metabolic disorders in a large Middle Eastern biobank.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Geethanjali Devadoss Gandhi , Elbay Aliyev , Najeeb Syed , Fazulur Rehaman Vempalli , Chadi Saad , Hamdi Mbarek , Omayma Al-Saei , Aljazi Al-Maraghi , Mona Abdi , Navaneethakrishnan Krishnamoorthy , Ramin Badii , Auteur inconnu , Ammira Akil , Tawfeg Ben-Omran , Khalid A Fakhro

Real-World Outcomes with Lomitapide Use in Paediatric Patients with Homozygous Familial Hypercholesterolaemia.

Advances in therapy
Avec: Tawfeg Ben-Omran , Luis Masana , Genovefa Kolovou , Gema Ariceta , F Javier Nóvoa , Allan M Lund , Martin P Bogsrud , María Araujo , Osamah Hussein , Daiana Ibarretxe , Rosa M Sanchez-Hernández , Raul D Santos

Natural history, with clinical, biochemical, and molecular characterization of classical homocystinuria in the Qatari population.

Journal of inherited metabolic disease
Avec: Nader Al-Dewik , Alaa Ali , Yassmin Mahmoud , Noora Shahbeck , Rehab Ali , Laila Mahmoud , Mariam Al-Mureikhi , Fatma Al-Mesaifri , Sara Musa , Karen El-Akouri , Mariam Almulla , Reem Al Saadi , Gheyath K Nasrallah , Muthanna Samara , Ghassan Abdoh , Hilal Al Rifai , Johannes Häberle , Beat Thöny , Warren Kruger , Henk J Blom , Tawfeg Ben-Omran

Autozygome and high throughput confirmation of disease genes candidacy.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Sateesh Maddirevula , Fatema Alzahrani , Mohammed Al-Owain , Mohammad A Al Muhaizea , Husam R Kayyali , Amal AlHashem , Zuhair Rahbeeni , Maha Al-Otaibi , Hamad I Alzaidan , Ameera Balobaid , Heba Y El Khashab , Dalal K Bubshait , Maha Faden , Suad Al Yamani , Omar Dabbagh , Mariam Al-Mureikhi , Abdulla Al Jasser , Hessa S Alsaif , Iram Alluhaydan , Mohammed Zain Seidahmed , Bashair Hamza Alabbasi , Ibrahim Almogarri , Wesam Kurdi , Hana Akleh , Alya Qari , Saeed M Al Tala , Suzan Alhomaidi , Amal Y Kentab , Mustafa A Salih , Aziza Chedrawi , Seham Alameer , Brahim Tabarki , Hanan E Shamseldin , Nisha Patel , Niema Ibrahim , Firdous Abdulwahab , Menasria Samira , Ewa Goljan , Mohamed Abouelhoda , Brian F Meyer , Mais Hashem , Ranad Shaheen , Saad AlShahwan , Majid Alfadhel , Tawfeg Ben-Omran , Mohammad M Al-Qattan , Dorota Monies , Fowzan S Alkuraya

Effects of consanguinity in a cohort of subjects with certain genetic disorders in Qatar.

Molecular genetics & genomic medicine
Avec: Tawfeg Ben-Omran , Kaltham Al Ghanim , Tarunashree Yavarna , Maha El Akoum , Muthanna Samara , Prem Chandra , Nader Al-Dewik

Expanding on the phenotypic spectrum of Woodhouse-Sakati syndrome due to founder pathogenic variant in DCAF17: Report of 58 additional patients from Qatar and literature review.

American journal of medical genetics. Part A
Avec: Rehab Ali , Nader Al-Dewik , Shayma Mohammed , Mahmud Elfituri , Sahar Agouba , Sara Musa , Laila Mahmoud , Mariam Almulla , Karen El-Akouri , Howaida Mohd , Reem Bux , Hajer Almulla , Amna Othman , Fatma Al-Mesaifri , Noora Shahbeck , Mariam Al-Muriekhi , Amal Khalifa , Reem Al-Sulaiman , Tawfeg Ben-Omran

Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations.

Orphanet journal of rare diseases
Avec: Valerie Cormier-Daire , Moeenaldeen AlSayed , Inês Alves , Joana Bengoa , Tawfeg Ben-Omran , Silvio Boero , Svein Fredwall , Catherine Garel , Encarna Guillen-Navarro , Melita Irving , Christian Lampe , Mohamad Maghnie , Geert Mortier , Sérgio B Sousa , Klaus Mohnike

Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5-year update of the NURTURE study.

Muscle & nerve
Avec: Thomas O Crawford , Kathryn J Swoboda , Darryl C De Vivo , Enrico Bertini , Wuh-Liang Hwu , Richard S Finkel , Janbernd Kirschner , Nancy L Kuntz , Aledie Navas Nazario , Julie A Parsons , Astrid Pechmann , Monique M Ryan , Russell J Butterfield , Haluk Topaloglu , Tawfeg Ben-Omran , Valeria A Sansone , Yuh-Jyh Jong , Francy Shu , Cong Zhu , Stephanie Raynaud , Tiffany R Lago , Angela D Paradis , Richard Foster , Russell Chin , Zdenek Berger , Auteur inconnu

European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis.

Orphanet journal of rare diseases
Avec: Melita Irving , Moeenaldeen AlSayed , Paul Arundel , Geneviève Baujat , Tawfeg Ben-Omran , Silvio Boero , Valérie Cormier-Daire , Svein Fredwall , Encarna Guillen-Navarro , Heike Hoyer-Kuhn , Philip Kunkel , Christian Lampe , Mohamad Maghnie , Klaus Mohnike , Geert Mortier , Sérgio B Sousa

Newborn screening for homocystinurias: Recent recommendations versus current practice.

Journal of inherited metabolic disease
Avec: Rebecca Keller , Petr Chrastina , Markéta Pavlíková , Sofía Gouveia , Antonia Ribes , Stefan Kölker , Henk J Blom , Matthias R Baumgartner , Josef Bártl , Carlo Dionisi-Vici , Florian Gleich , Andrew A Morris , Viktor Kožich , Martina Huemer , Auteur inconnu , Ivo Barić , Tawfeq Ben-Omran , Javier Blasco-Alonso , Maria A Bueno Delgado , Claudia Carducci , Michela Cassanello , Roberto Cerone , Maria Luz Couce , Ellen Crushell , Carmen Delgado Pecellin , Elena Dulin , Mercedes Espada , Giulio Ferino , Ralph Fingerhut , Immaculada Garcia Jimenez , Immaculada Gonzalez Gallego , Yolanda González-Irazabal , Gwendolyn Gramer , Maria Jesus Juan Fita , Eszter Karg , Jeanette Klein , Vassiliki Konstantopoulou , Giancarlo la Marca , Elisa Leão Teles , Vincenzo Leuzzi , Franco Lilliu , Rosa Maria Lopez , Allan M Lund , Philip Mayne , Silvia Meavilla , Stuart J Moat , Jürgen G Okun , Elisabeta Pasquini , Consuélo Carmen Pedron-Giner , Gabor Zoltan Racz , Maria Angeles Ruiz Gomez , Laura Vilarinho , Raquel Yahyaoui , Moja Zerjav Tansek , Rolf H Zetterström , Maximilian Zeyda

6-Pyruvoyltetrahydropterin Synthase Deficiency: Review and Report of 28 Arab Subjects.

Pediatric neurology
Avec: Mohammed Almannai , Rana Felemban , Mohammed A Saleh , Eissa A Faqeih , Ali Alasmari , Amal AlHashem , Sarar Mohamed , Rawda Sunbul , Fathiya Al-Murshedi , Khalid AlThihli , Wafaa Eyaid , Rehab Ali , Tawfeg Ben-Omran , Nenad Blau , Ayman W El-Hattab , Majid Alfadhel

Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Shereen G Ghosh , Sangmoon Lee , Rudy Fabunan , Guoliang Chai , Maha S Zaki , Ghada Abdel-Salam , Tipu Sultan , Tawfeg Ben-Omran , Javeria Raza Alvi , Jennifer McEvoy-Venneri , Valentina Stanley , Aakash Patel , Danica Ross , Jeffrey Ding , Mohit Jain , Daqiang Pan , Philipp Lübbert , Bernd Kammerer , Nils Wiedemann , Nanda M Verhoeven-Duif , Judith J Jans , David Murphy , Mehran Beiraghi Toosi , Farah Ashrafzadeh , Shima Imannezhad , Ehsan Ghayoor Karimiani , Khalid Ibrahim , Elizabeth R Waters , Reza Maroofian , Joseph G Gleeson

De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder.

American journal of medical genetics. Part A
Avec: Caroline Dias , Rolph Pfundt , Tjitske Kleefstra , Janneke Shuurs-Hoeijmakers , Elles M J Boon , Johanna M van Hagen , Petra Zwijnenburg , Marjan M Weiss , Boris Keren , Cyril Mignot , Arnaud Isapof , Karin Weiss , Tova Hershkovitz , Maria Iascone , Silvia Maitz , René G Feichtinger , Dieter Kotzot , Johannes A Mayr , Tawfeg Ben-Omran , Laila Mahmoud , Lynn S Pais , Christopher A Walsh , Vandana Shashi , Jennifer A Sullivan , Nicholas Stong , Francois Lecoquierre , Anne-Marie Guerrot , Aude Charollais , Lance H Rodan

Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype-phenotype spectrum and functional impact on GPI-anchored proteins.

Clinical genetics
Avec: Smrithi Salian , Marcello Scala , Thi Tuyet Mai Nguyen , Mariasavina Severino , Andrea Accogli , Elisabetta Amadori , Annalaura Torella , Michele Pinelli , Beth Hudson , Megan Boothe , Anna Hurst , Tawfeg Ben-Omran , Martin J Larsen , Christina R Fagerberg , Lene Sperling , Ieva Miceikaite , Lucas Herissant , Martine Doco-Fenzy , Mélanie Jennesson , Vincenzo Nigro , Pasquale Striano , Carlo Minetti , Rani K Sachdev , Emma Elizabeth Palmer , Valeria Capra , Philippe M Campeau

Life-Saving Treatments for Spinal Muscular Atrophy: Global Access and Availability.

Neurology. Clinical practice
Avec: Victor D Armengol , Basil T Darras , Ahmad A Abulaban , Ali Alshehri , Nina Barisic , Tawfeg Ben-Omran , Guenther Bernert , Claudia Castiglioni , Yin-Hsiu Chien , Michelle A Farrar , Gwendoline Kandawasvika , Satish Khadilkar , Jean Mah , Chiara Marini-Bettolo , Damjan Osredkar , Gerald Pfeffer , Flavia B Piazzon , Inmaculada Pitarch Castellano , Susana Quijano-Roy , Kayoko Saito , Jin-Hong Shin , Juan F Vázquez-Costa , Maggie C Walter , Jithangi Wanigasinghe , Hui Xiong , Robert C Griggs , Bhaskar Roy

Real-world evidence in achondroplasia: considerations for a standardized data set.

Orphanet journal of rare diseases
Avec: Yasemin Alanay , Klaus Mohnike , Ola Nilsson , Inês Alves , Moeenaldeen AlSayed , Natasha M Appelman-Dijkstra , Genevieve Baujat , Tawfeg Ben-Omran , Sandra Breyer , Valerie Cormier-Daire , Pernille Axél Gregersen , Encarna Guillén-Navarro , Wolfgang Högler , Mohamad Maghnie , Swati Mukherjee , Shelda Cohen , Jeanne Pimenta , Angelo Selicorni , J Oliver Semler , Sabine Sigaudy , Dmitry Popkov , Ian Sabir , Susana Noval , Marco Sessa , Melita Irving

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.

Research square
Avec: David Picketts , Ghayda Mirzaa , Keqin Yan , Raissa Relator , Sara Timpano , Binnaz Yalcin , Stephan Collins , Alban Ziegler , Emily Pao , Nora Oyama , Elise Brischoux-Boucher , Juliette Piard , Kristin Monaghan , Maria Guillen Sacoto , William Dobyns , Kristen Park , Daniel Fernández-Mayoralas , Alberto Fernández-Jaén , Parul Jayakar , Alfredo Brusco , Vincenzo Antona , Elisa Giorgio , Malin Kvarnung , Bertrand Isidor , Solène Conrad , Benjamin Cogné , Wallid Deb , K E Stuurman , Katalin Sterbova , Noor Smal , Sarah Weckhuysen , Renske Oegema , Micheil Innes , Maeson Latsko , Tawfeg Ben-Omran , Rebecca Yeh , Michael Kruer , Somayeh Bakhtiari , Antigone Papavasiliou , Sébastien Moutton , Sophie Nambot , Sirisak Chanprasert , Sarah Paolucci , Kait Miller , Barbara Burton , Katherine Kim , Emily O'Heir , Zandre Bruwer , Kirsten Donald , Tjitske Kleefstra , Amy Goldstein , Brad Angle , Kelly Bontempo , Peter Miny , Pascal Joset , Florence Demurger , Emma Hobson , Lewis Pang , Lori Carpenter , Dong Li , Dominique Bonneau , Bekim Sadikovic

Genetic background of primary and familial HLH in Qatar: registry data and population study.

Frontiers in pediatrics
Avec: Elkhansa Elgaali , Massimo Mezzavilla , Ikhlak Ahmed , Mohammed Elanbari , Aesha Ali , Ghada Abdelaziz , Khalid A Fakhro , Ayman Saleh , Tawfeg Ben-Omran , Naima Almulla , Chiara Cugno

A founder RAB27A variant causes Griscelli syndrome type 2 with phenotypic heterogeneity in Qatari families.

American journal of medical genetics. Part A
Avec: Reem Al-Sulaiman , Amna Othman , Karen El-Akouri , Shehab Fareed , Hajer AlMulla , Aseel Sukik , Mariam Al-Mureikhi , Noora Shahbeck , Rehab Ali , Fatma Al-Mesaifri , Sara Musa , Mariam Al-Mulla , Khalid Ibrahim , Khalid Mohamed , Maryam Ali Al-Nesef , Mohammad Ehlayel , Tawfeg Ben-Omran

A Middle Eastern Founder Mutation Expands the Genotypic and Phenotypic Spectrum of Mitochondrial MICU1 Deficiency: A Report of 13 Patients.

JIMD reports
Avec: Sara Musa , Wafaa Eyaid , Kimberli Kamer , Rehab Ali , Mariam Al-Mureikhi , Noora Shahbeck , Fatma Al Mesaifri , Nawal Makhseed , Zakkiriah Mohamed , Wafaa Ali AlShehhi , Vamsi K Mootha , Jane Juusola , Tawfeg Ben-Omran

Analysis of the Qatari R336C cystathionine β-synthase protein in mice.

Journal of inherited metabolic disease
Avec: Sapna Gupta , Lorena Gallego-Villar , Liqun Wang , Hyung-Ok Lee , Gheyath Nasrallah , Nader Al-Dewik , Johannes Häberle , Beat Thöny , Henk J Blom , Tawfeg Ben-Omran , Warren D Kruger

Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: The Qatari experience.

American journal of medical genetics. Part A
Avec: Nader Al-Dewik , Howaida Mohd , Mariam Al-Mureikhi , Rehab Ali , Fatma Al-Mesaifri , Laila Mahmoud , Noora Shahbeck , Karen El-Akouri , Mariam Almulla , Reem Al Sulaiman , Sara Musa , Ajayeb Al-Nabet Al-Marri , Gabriele Richard , Jane Juusola , Benjamin D Solomon , Fowzan S Alkuraya , Tawfeg Ben-Omran

In silico and in vivo models for Qatari-specific classical homocystinuria as basis for development of novel therapies.

Human mutation
Avec: Hesham M Ismail , Navaneethakrishnan Krishnamoorthy , Nader Al-Dewik , Hatem Zayed , Nura A Mohamed , Valeria Di Giacomo , Sapna Gupta , Johannes Häberle , Beat Thöny , Henk J Blom , Waren D Kruger , Tawfeg Ben-Omran , Gheyath K Nasrallah

Clinical Exome Sequencing unravels new disease-causing mutations in the myeloproliferative neoplasms: A pilot study in patients from the state of Qatar.

Gene
Avec: Nader Al-Dewik , Tawfeg Ben-Omran , Hatem Zayed , Daniel Trujillano , Shivendra Kishore , Arndt Rolfs , Mohamed A Yassin

Further delineation of HIDEA syndrome.

American journal of medical genetics. Part A
Avec: Sateesh Maddirevula , Tawfeg Ben-Omran , Mariam AlMureikhi , Wafa Eyaid , Hisham Arabi , Hisham Alkuraya , Abdullah Alfaifi , Abdullah Hamed Alfalah , Hessa S Alsaif , Firdous Abdulwahab , Majid Alfadhel , Fowzan S Alkuraya

Loss of MANF Causes Childhood-Onset Syndromic Diabetes Due to Increased Endoplasmic Reticulum Stress.

Diabetes
Avec: Hossam Montaser , Kashyap A Patel , Diego Balboa , Hazem Ibrahim , Väinö Lithovius , Anna Näätänen , Vikash Chandra , Korcan Demir , Sezer Acar , Tawfeg Ben-Omran , Kevin Colclough , Jonathan M Locke , Matthew Wakeling , Maria Lindahl , Andrew T Hattersley , Jonna Saarimäki-Vire , Timo Otonkoski

Optimising care and follow-up of adults with achondroplasia.

Orphanet journal of rare diseases
Avec: Svein Fredwall , Yana Allum , Moeenaldeen AlSayed , Inês Alves , Tawfeg Ben-Omran , Silvio Boero , Valerie Cormier-Daire , Encarna Guillen-Navarro , Melita Irving , Christian Lampe , Mohamad Maghnie , Klaus Mohnike , Geert Mortier , Sérgio B Sousa , Michael Wright

A breakthrough effect of gene replacement therapy on respiratory outcomes in children with spinal muscular atrophy.

Pediatric pulmonology
Avec: Amal AlNaimi , Sara G Hamad , Reem B A Mohamed , Tawfeg Ben-Omran , Khalid Ibrahim , Mahmoud F El-Said Osman , Mutasim Abu-Hasan

Burden of Mendelian disorders in a large Middle Eastern biobank.

Genome medicine
Avec: Waleed Aamer , Aljazi Al-Maraghi , Najeeb Syed , Geethanjali Devadoss Gandhi , Elbay Aliyev , Alya A Al-Kurbi , Omayma Al-Saei , Muhammad Kohailan , Navaneethakrishnan Krishnamoorthy , Sasirekha Palaniswamy , Khulod Al-Malki , Saleha Abbasi , Nourhen Agrebi , Fatemeh Abbaszadeh , Ammira S Al-Shabeeb Akil , Ramin Badii , Tawfeg Ben-Omran , Bernice Lo , Auteur inconnu , Younes Mokrab , Khalid A Fakhro

Réseau de co-auteurs

Nader Al-Dewik 8 collaborations
Mariam Al-Mureikhi 7 collaborations
Rehab Ali 7 collaborations
None None 6 collaborations
Moeenaldeen AlSayed 6 collaborations
Melita Irving 6 collaborations
Mohamad Maghnie 6 collaborations
Klaus Mohnike 6 collaborations
Karen El-Akouri 6 collaborations
Sara Musa 6 collaborations
Noora Shahbeck 6 collaborations
Silvio Boero 5 collaborations
Christian Lampe 5 collaborations
Geert Mortier 5 collaborations
Fatma Al-Mesaifri 5 collaborations
Valerie Cormier-Daire 4 collaborations
Encarna Guillen-Navarro 4 collaborations
Majid Alfadhel 4 collaborations
Khalid Ibrahim 4 collaborations
Mariam Almulla 4 collaborations
Svein Fredwall 4 collaborations
Sérgio B Sousa 4 collaborations
Laila Mahmoud 4 collaborations
Henk J Blom 4 collaborations
Valentina Stanley 3 collaborations
Joseph G Gleeson 3 collaborations
Amna Othman 3 collaborations
Navaneethakrishnan Krishnamoorthy 3 collaborations
Khalid A Fakhro 3 collaborations
Johannes Häberle 3 collaborations
Beat Thöny 3 collaborations
Fowzan S Alkuraya 3 collaborations
Inês Alves 3 collaborations
Darryl C De Vivo 2 collaborations
Enrico Bertini 2 collaborations
Kathryn J Swoboda 2 collaborations
Wuh-Liang Hwu 2 collaborations
Thomas O Crawford 2 collaborations
Richard S Finkel 2 collaborations
Janbernd Kirschner 2 collaborations
Nancy L Kuntz 2 collaborations
Julie A Parsons 2 collaborations
Monique M Ryan 2 collaborations
Russell J Butterfield 2 collaborations
Haluk Topaloglu 2 collaborations
Valeria A Sansone 2 collaborations
Yuh-Jyh Jong 2 collaborations
Francy Shu 2 collaborations
Richard Foster 2 collaborations
Mariam Al-Mulla 2 collaborations
Danica Ross 2 collaborations
Jennifer McEvoy-Venneri 2 collaborations
Sangmoon Lee 2 collaborations
Mohammed Almannai 2 collaborations
Brahim Tabarki 2 collaborations
Nawal Makhseed 2 collaborations
Arndt Rolfs 2 collaborations
Andrea Accogli 2 collaborations
Maha S Zaki 2 collaborations
Benjamin Cogné 2 collaborations
Solène Conrad 2 collaborations
Wallid Deb 2 collaborations
Geneviève Baujat 2 collaborations
Bertrand Isidor 2 collaborations
Hajer Almulla 2 collaborations
Valérie Cormier-Daire 2 collaborations
Encarna Guillén-Navarro 2 collaborations
Philip Kunkel 2 collaborations
Marco Sessa 2 collaborations
Geethanjali Devadoss Gandhi 2 collaborations
Elbay Aliyev 2 collaborations
Najeeb Syed 2 collaborations
Omayma Al-Saei 2 collaborations
Aljazi Al-Maraghi 2 collaborations
Ramin Badii 2 collaborations
Allan M Lund 2 collaborations
Gheyath K Nasrallah 2 collaborations
Muthanna Samara 2 collaborations
Sateesh Maddirevula 2 collaborations
Amal AlHashem 2 collaborations
Hessa S Alsaif 2 collaborations
Firdous Abdulwahab 2 collaborations
Howaida Mohd 2 collaborations
Reem Al-Sulaiman 2 collaborations
Wafaa Eyaid 2 collaborations
Tjitske Kleefstra 2 collaborations
Jane Juusola 2 collaborations
Sapna Gupta 2 collaborations
Hatem Zayed 2 collaborations
John F Staropoli 1 collaboration
Douglas Kerr 1 collaboration
Alfred W Sandrock 1 collaboration
Christopher Stebbins 1 collaboration
Marco Petrillo 1 collaboration
Gabriel Braley 1 collaboration
Kristina Johnson 1 collaboration
Sarah Gheuens 1 collaboration
Ishir Bhan 1 collaboration
Sandra P Reyna 1 collaboration
Stephanie Fradette 1 collaboration
Wildon Farwell 1 collaboration
Jessica X Chong 1 collaboration
Jared C Talbot 1 collaboration
Emily M Teets 1 collaboration
Samantha Previs 1 collaboration
Brit L Martin 1 collaboration
Kathryn M Shively 1 collaboration
Colby T Marvin 1 collaboration
Arthur S Aylsworth 1 collaboration
Reem Saadeh-Haddad 1 collaboration
Ulrich A Schatz 1 collaboration
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