All papers authored by Fowzan S. Alkuraya
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2024
Marie Materna 
,
Ottavia M. Delmonte ,
Marita Bosticardo ,
Mana Momenilandi ,
Peyton E. Conrey ,
Bénédicte Charmeteau-De Muylder,
Clotilde Bravetti,
Rebecca Bellworthy ,
Axel Cederholm ,
Frederik Staels,
Christian A. Ganoza ,
Samuel Darko ,
Samir Sayed ,
Corentin Le Floc’h ,
Masato Ogishi
and 83 other authors
,
Ottavia M. Delmonte ,
Marita Bosticardo ,
Mana Momenilandi ,
Peyton E. Conrey ,
Bénédicte Charmeteau-De Muylder,
Clotilde Bravetti,
Rebecca Bellworthy ,
Axel Cederholm ,
Frederik Staels,
Christian A. Ganoza ,
Samuel Darko ,
Samir Sayed ,
Corentin Le Floc’h ,
Masato Ogishi
and 83 other authors
The immunopathological landscape of human pre-TCRα deficiency: From rare to common variants
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Huilun H. Wang,
Liangguang L. Lin ,
Zexin J. Li,
Xiaoqiong Wei ,
Omar Askander,
Gerarda Cappuccio ,
Mais O. Hashem,
Laurence Hubert ,
Arnold Munnich,
Mashael Alqahtani ,
Qi Pang,
Margit Burmeister ,
You Lu ,
Karine Poirier,
Claude Besmond
and 4 other authors
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,
Zexin J. Li,
Xiaoqiong Wei ,
Omar Askander,
Gerarda Cappuccio ,
Mais O. Hashem,
Laurence Hubert ,
Arnold Munnich,
Mashael Alqahtani ,
Qi Pang,
Margit Burmeister ,
You Lu ,
Karine Poirier,
Claude Besmond
and 4 other authors
Download from doi.org
2023
Injeong Shim ,
Hiroyuki Kuwahara,
NingNing Chen ,
Mais O. Hashem,
Lama AlAbdi ,
Mohamed Abouelhoda,
Hong-Hee Won,
Pradeep Natarajan ,
Patrick T. Ellinor ,
Amit V. Khera,
Xin Gao ,
Fowzan S. Alkuraya ,
Akl C. Fahed
,
Hiroyuki Kuwahara,
NingNing Chen ,
Mais O. Hashem,
Lama AlAbdi ,
Mohamed Abouelhoda,
Hong-Hee Won,
Pradeep Natarajan ,
Patrick T. Ellinor ,
Amit V. Khera,
Xin Gao ,
Fowzan S. Alkuraya ,
Akl C. Fahed
Clinical utility of polygenic scores for cardiometabolic disease in Arabs
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Alexander J. M. Dingemans,
Max Hinne,
Kim M. G. Truijen,
Lia Goltstein ,
Jeroen van Reeuwijk ,
Nicole de Leeuw ,
Janneke Schuurs-Hoeijmakers,
Rolph Pfundt,
Illja J. Diets,
Joery den Hoed ,
Elke de Boer ,
Jet Coenen-Van der Spek ,
Sandra Jansen,
Bregje W. van Bon,
Noraly Jonis
and 18 other authors
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,
Jeroen van Reeuwijk ,
Nicole de Leeuw ,
Janneke Schuurs-Hoeijmakers,
Rolph Pfundt,
Illja J. Diets,
Joery den Hoed ,
Elke de Boer ,
Jet Coenen-Van der Spek ,
Sandra Jansen,
Bregje W. van Bon,
Noraly Jonis
and 18 other authors
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Huda B. Al‐Kouatly ,
Kavya Shivashankar ,
Matthew H. Mossayebi ,
Mona Makhamreh ,
Elizabeth Critchlow ,
Zimeng Gao ,
Luther‐King Fasehun ,
Fowzan S. Alkuraya ,
Erin E. Ryan ,
Madhuri Hegde ,
Sascha Wodoslawsky ,
Joel Hughes ,
Seth I. Berger
Download from onlinelibrary.wiley.com
,
Kavya Shivashankar ,
Matthew H. Mossayebi ,
Mona Makhamreh ,
Elizabeth Critchlow ,
Zimeng Gao ,
Luther‐King Fasehun ,
Fowzan S. Alkuraya ,
Erin E. Ryan ,
Madhuri Hegde ,
Sascha Wodoslawsky ,
Joel Hughes ,
Seth I. Berger
Download from onlinelibrary.wiley.com
2022
Elizabeth E. Palmer ,
Michael Pusch ,
Alessandra Picollo ,
Caitlin Forwood,
Matthew H. Nguyen,
Vanessa Suckow,
Jessica Gibbons,
Alva Hoff,
Lisa Sigfrid,
Andre Megarbane,
Mathilde Nizon,
Benjamin Cogné,
Claire Beneteau ,
Fowzan S. Alkuraya ,
Aziza Chedrawi
and 84 other authors
Download from www.nature.com
,
Michael Pusch ,
Alessandra Picollo ,
Caitlin Forwood,
Matthew H. Nguyen,
Vanessa Suckow,
Jessica Gibbons,
Alva Hoff,
Lisa Sigfrid,
Andre Megarbane,
Mathilde Nizon,
Benjamin Cogné,
Claire Beneteau ,
Fowzan S. Alkuraya ,
Aziza Chedrawi
and 84 other authors
Download from www.nature.com
Samir Bouasker,
Nisha Patel,
Rebecca Greenlees,
Diana Wellesley,
Lucas Fares Taie,
Naif A. Almontashiri,
Julia Baptista ,
Malak Ali Alghamdi,
Sarah Boissel,
Jelena Martinovic,
Ivan Prokudin,
Samantha Holden,
Hardeep-Singh Mudhar,
Lisa G. Riley,
Christina Nassif
and 13 other authors
,
Malak Ali Alghamdi,
Sarah Boissel,
Jelena Martinovic,
Ivan Prokudin,
Samantha Holden,
Hardeep-Singh Mudhar,
Lisa G. Riley,
Christina Nassif
and 13 other authors
Bi-allelic variants inWNT7Bdisrupt the development of multiple organs in humans
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Mary E. McQuaid ,
Kashif Ahmed,
Stephanie Tran,
Justine Rousseau ,
Ranad Shaheen ,
Kristin D. Kernohan,
Kyoko E. Yuki ,
Prerna Grover ,
Ema S. Dreseris,
Sameen Ahmed,
Lucie Dupuis ,
Jennifer Stimec,
Mary Shago,
Zuhair N. Al-Hassnan ,
Roch Tremblay
and 14 other authors
,
Kashif Ahmed,
Stephanie Tran,
Justine Rousseau ,
Ranad Shaheen ,
Kristin D. Kernohan,
Kyoko E. Yuki ,
Prerna Grover ,
Ema S. Dreseris,
Sameen Ahmed,
Lucie Dupuis ,
Jennifer Stimec,
Mary Shago,
Zuhair N. Al-Hassnan ,
Roch Tremblay
and 14 other authors
Hypomorphic GINS3 variants alter DNA replication and cause Meier-Gorlin syndrome
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2021
Jack J. Collier,
Claire Guissart,
Monika Oláhová,
Souphatta Sasorith,
Florence Piron-Prunier ,
Fumi Suomi ,
David Zhang,
Nuria Martinez-Lopez,
Nicolas Leboucq,
Angela Bahr,
Silvia Azzarello-Burri,
Selina Reich ,
Ludger Schöls,
Tuomo M. Polvikoski,
Pierre Meyer
and 18 other authors
,
Fumi Suomi ,
David Zhang,
Nuria Martinez-Lopez,
Nicolas Leboucq,
Angela Bahr,
Silvia Azzarello-Burri,
Selina Reich ,
Ludger Schöls,
Tuomo M. Polvikoski,
Pierre Meyer
and 18 other authors
Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans
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Schanzer A.,
Anne Schänzer ,
Melanie T. Achleitner,
Achleitner Mt,
Dietrich Trümbach ,
Trumbach D.,
Laurence Hubert ,
Hubert L.,
Arnold Munnich ,
Munnich A.,
Barbara Ahlemeyer,
Maha M. AlAbdulrahim,
Ahlemeyer B.,
Philipp A. Greif ,
AlAbdulrahim Mm
and 47 other authors
,
Melanie T. Achleitner,
Achleitner Mt,
Dietrich Trümbach ,
Trumbach D.,
Laurence Hubert ,
Hubert L.,
Arnold Munnich ,
Munnich A.,
Barbara Ahlemeyer,
Maha M. AlAbdulrahim,
Ahlemeyer B.,
Philipp A. Greif ,
AlAbdulrahim Mm
and 47 other authors
Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism
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Ichrak Drissi ,
Emily Fletcher,
Ranad Shaheen,
Michael Nahorski,
Amal M. Alhashem,
Steve Lisgo ,
Alberto Fernández-Jaén ,
Katherine Schon ,
Kalthoum Tlili-Graiess,
Sarah F. Smithson,
Susan Lindsay,
Hayley J. Sharpe,
Fowzan S. Alkuraya ,
Geoff Woods
,
Emily Fletcher,
Ranad Shaheen,
Michael Nahorski,
Amal M. Alhashem,
Steve Lisgo ,
Alberto Fernández-Jaén ,
Katherine Schon ,
Kalthoum Tlili-Graiess,
Sarah F. Smithson,
Susan Lindsay,
Hayley J. Sharpe,
Fowzan S. Alkuraya ,
Geoff Woods
Mutations in phospholipase C eta-1 (PLCH1) are associated with holoprosencephaly
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Sarah E. Sheppard ,
Ian M. Campbell ,
Margaret H. Harr,
Nina Gold ,
Dong Li,
Hans T. Bjornsson,
Julie S. Cohen,
Jill A. Fahrner,
Ali Fatemi,
Jacqueline R. Harris,
Catherine Nowak,
Cathy A. Stevens,
Katheryn Grand,
Margaret Au ,
John M. Graham
and 90 other authors
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,
Ian M. Campbell ,
Margaret H. Harr,
Nina Gold ,
Dong Li,
Hans T. Bjornsson,
Julie S. Cohen,
Jill A. Fahrner,
Ali Fatemi,
Jacqueline R. Harris,
Catherine Nowak,
Cathy A. Stevens,
Katheryn Grand,
Margaret Au ,
John M. Graham
and 90 other authors
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2020
Raghu R. Chivukula ,
Daniel T. Montoro ,
Hui Min Leung,
Jason Yang,
Hanan E. Shamseldin,
Martin S. Taylor,
Gerard W. Dougherty,
Maimoona A. Zariwala,
Johnny Carson,
M. Leigh Anne Daniels ,
Patrick R. Sears,
Katharine E. Black,
Lida P. Hariri,
Ibrahim Almogarri,
Evgeni M. Frenkel
and 6 other authors
Download from www.nature.com
,
Daniel T. Montoro ,
Hui Min Leung,
Jason Yang,
Hanan E. Shamseldin,
Martin S. Taylor,
Gerard W. Dougherty,
Maimoona A. Zariwala,
Johnny Carson,
M. Leigh Anne Daniels ,
Patrick R. Sears,
Katharine E. Black,
Lida P. Hariri,
Ibrahim Almogarri,
Evgeni M. Frenkel
and 6 other authors
Download from www.nature.com
Raghu R. Chivukula ,
Daniel T. Montoro ,
Hui Min Leung,
Jason Yang,
Hanan E. Shamseldin,
Martin S. Taylor,
Gerard W. Dougherty,
Maimoona A. Zariwala,
Johnny Carson,
M. Leigh Anne Daniels ,
Patrick R. Sears,
Katharine E. Black,
Lida P. Hariri,
Ibrahim Almogarri,
Evgeni M. Frenkel
and 6 other authors
,
Daniel T. Montoro ,
Hui Min Leung,
Jason Yang,
Hanan E. Shamseldin,
Martin S. Taylor,
Gerard W. Dougherty,
Maimoona A. Zariwala,
Johnny Carson,
M. Leigh Anne Daniels ,
Patrick R. Sears,
Katharine E. Black,
Lida P. Hariri,
Ibrahim Almogarri,
Evgeni M. Frenkel
and 6 other authors
A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance
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Gokhan Unlu ,
Xinzi Qi,
Eric R. Gamazon,
David B. Melville,
Nisha Patel,
Amy R. Rushing,
Mais Hashem,
Abdullah Al-Faifi,
Rui Chen,
Bingshan Li,
Nancy J. Cox,
Fowzan S. Alkuraya ,
Ela W. Knapik
Download from www.nature.com
,
Xinzi Qi,
Eric R. Gamazon,
David B. Melville,
Nisha Patel,
Amy R. Rushing,
Mais Hashem,
Abdullah Al-Faifi,
Rui Chen,
Bingshan Li,
Nancy J. Cox,
Fowzan S. Alkuraya ,
Ela W. Knapik
Download from www.nature.com
2019
Melissa H. Broeks,
Hanan E. Shamseldin,
Amal Alhashem,
Mais Hashem,
Firdous Abdulwahab,
Tarfa Alshedi,
Iman Alobaid,
Fried Zwartkruis ,
Denise Westland,
Sabine Fuchs,
Nanda M. Verhoeven-Duif,
Judith J. M. Jans ,
Fowzan S. Alkuraya
Download from link.springer.com
,
Denise Westland,
Sabine Fuchs,
Nanda M. Verhoeven-Duif,
Judith J. M. Jans ,
Fowzan S. Alkuraya
Download from link.springer.com
Jehan Suleiman,
Korbinian M. Riedhammer ,
Timothy Jicinsky,
Melinda Mundt,
Laurie Werner,
Mirjana Gusic,
Anna L. Burgemeister,
Hessa S. Alsaif,
Maha Abdulrahim,
Nabil N. Moghrabi,
Manal Nicolas‐Jilwan,
Moeenaldeen AlSayed,
Weimin Bi,
Srirangan Sampath,
Fowzan S. Alkuraya
and 1 other authors
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,
Timothy Jicinsky,
Melinda Mundt,
Laurie Werner,
Mirjana Gusic,
Anna L. Burgemeister,
Hessa S. Alsaif,
Maha Abdulrahim,
Nabil N. Moghrabi,
Manal Nicolas‐Jilwan,
Moeenaldeen AlSayed,
Weimin Bi,
Srirangan Sampath,
Fowzan S. Alkuraya
and 1 other authors
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