Mostafa Aglan

Affiliations

Division of Pulmonary, Critical Care and Sleep Medicine, Department of Medicine, Beth Israel Deaconess Medical Center, Boston, Massachusetts, United States.

Publications (16)

Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Denise Horn , Elisa Fernández-Núñez , Ricardo Gomez-Carmona , Ana Rivera-Barahona , Julian Nevado , Sarina Schwartzmann , Nadja Ehmke , Pablo Lapunzina , Ghada A Otaify , Samia Temtamy , Mona Aglan , Felix Boschann , Victor L Ruiz-Perez

Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary cilia.

American journal of human genetics

Avec: Asier Iturrate , Ana Rivera-Barahona , Carmen-Lisset Flores , Ghada A Otaify , Rasha Elhossini , Marina L Perez-Sanz , Julián Nevado , Jair Tenorio-Castano , Juan Carlos Triviño , Francesc R Garcia-Gonzalo , Francesca Piceci-Sparascio , Alessandro De Luca , Leopoldo Martínez , Tugba Kalaycı , Pablo Lapunzina , Umut Altunoglu , Mona Aglan , Ebtesam Abdalla , Victor L Ruiz-Perez

Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis.

Journal of medical genetics

Avec: Umut Altunoglu , Adrian Palencia-Campos , Nilay Güneş , Gozde Tutku Turgut , Julian Nevado , Pablo Lapunzina , Maria Valencia , Asier Iturrate , Ghada Otaify , Rasha Elhossini , Adel Ashour , Asmaa K Amin , Rania F Elnahas , Elisa Fernandez-Nuñez , Carmen-Lisset Flores , Pedro Arias , Jair Tenorio , Carlos Israel Chamorro Fernández , Yeliz Güven , Elif Özsu , Beray Selver Eklioğlu , Marisol Ibarra-Ramirez , Birgitte Rode Diness , Birute Burnyte , Houda Ajmi , Zafer Yüksel , Ruken Yıldırım , Edip Ünal , Ebtesam Abdalla , Mona Aglan , Hulya Kayserili , Beyhan Tuysuz , Victor Ruiz-Pérez

Genomic and phenotypic delineation of congenital microcephaly.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Ranad Shaheen , Sateesh Maddirevula , Nour Ewida , Saud Alsahli , Ghada M H Abdel-Salam , Maha S Zaki , Saeed Al Tala , Amal Alhashem , Ameen Softah , Mohammed Al-Owain , Anas M Alazami , Basma Abadel , Nisha Patel , Tarfa Al-Sheddi , Rana Alomar , Eman Alobeid , Niema Ibrahim , Mais Hashem , Firdous Abdulwahab , Muddathir Hamad , Brahim Tabarki , Ali H Alwadei , Fahad Alhazzani , Fahad A Bashiri , Amal Kentab , Serdar Şahintürk , Elliott Sherr , Brieana Fregeau , Samira Sogati , Saad Ali M Alshahwan , Salwa Alkhalifi , Zainab Alhumaidi , Samia Temtamy , Mona Aglan , Ghada Otaify , Katta M Girisha , Maha Tulbah , Mohammed Zain Seidahmed , Mustafa A Salih , Mohamed Abouelhoda , Afaque A Momin , Muna Al Saffar , Jennifer N Partlow , Stefan T Arold , Eissa Faqeih , Christopher Walsh , Fowzan S Alkuraya

Expansion of the phenotypic and mutational spectrum of Carpenter syndrome.

European journal of medical genetics

Avec: Rabab Khairat , Rasha Elhossini , Nara Sobreira , Elizabeth Wohler , Ghada Otaify , Amal M Mohamed , Ehab R Abdel Raouf , Inas Sayed , Mona Aglan , Samira Ismail , Samia A Temtamy

First Report of Two Egyptian Patients with Desbuquois Dysplasia due to Homozygous

Molecular syndromology

Avec: Manal M Thomas , Engy A Ashaat , Ghada A Otaify , Samira Ismail , Mona L Essawi , Mohamed S Abdel-Hamid , Heba A Hassan , Sonia A Alsaiedi , Mona Aglan , Mona O El Ruby , Samia Temtamy

Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy.

Nature communications

Avec: María Cristina Estañ , Elisa Fernández-Núñez , Maha S Zaki , María Isabel Esteban , Sandra Donkervoort , Cynthia Hawkins , José A Caparros-Martin , Dimah Saade , Ying Hu , Véronique Bolduc , Katherine Ru-Yui Chao , Julián Nevado , Ana Lamuedra , Raquel Largo , Gabriel Herrero-Beaumont , Javier Regadera , Concepción Hernandez-Chico , Eduardo F Tizzano , Victor Martinez-Glez , Jaime J Carvajal , Ruiting Zong , David L Nelson , Ghada A Otaify , Samia Temtamy , Mona Aglan , Mahmoud Issa , Carsten G Bönnemann , Pablo Lapunzina , Grace Yoon , Victor L Ruiz-Perez

Aggrecan-related bone disorders; a novel heterozygous ACAN variant associated with spondyloepimetaphyseal dysplasia expanding the phenotypic spectrum and review of literature.

Journal, genetic engineering & biotechnology

Avec: Hoda A Ahmed , R Elhossini , M Aglan , Khalda Amr

Physical Activity, Air Pollution Exposure, and Lung Function Interactions Among Adults with COPD.

Chronic obstructive pulmonary diseases (Miami, Fla.)

Avec: Kelly Chen , Mostafa Aglan , Alexandra Purcell , Lina Nurhussien , Petros Koutrakis , Brent A Coull , Andrew Synn , Mary B Rice

Two new patients with focal dermal hypoplasia: A novel PORCN variant and insights on the diagnostic considerations.

Congenital anomalies

Avec: Rasha Moheb Elhossini , Mohamed S Abdel-Hamid , Engy Ashaat , Ghada A Otaify , Heba Dawoud , Khalid Elshimy , Mona El Ruby , Mona Aglan

Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.

American journal of human genetics

Avec: Adrian Palencia-Campos , Phillip C Aoto , Erik M F Machal , Ana Rivera-Barahona , Patricia Soto-Bielicka , Daniela Bertinetti , Blaine Baker , Lily Vu , Francesca Piceci-Sparascio , Isabella Torrente , Eveline Boudin , Silke Peeters , Wim Van Hul , Celine Huber , Dominique Bonneau , Michael S Hildebrand , Matthew Coleman , Melanie Bahlo , Mark F Bennett , Amy L Schneider , Ingrid E Scheffer , Maria Kibæk , Britta S Kristiansen , Mahmoud Y Issa , Mennat I Mehrez , Samira Ismail , Jair Tenorio , Gaoyang Li , Bjørn Steen Skålhegg , Ghada A Otaify , Samia Temtamy , Mona Aglan , Aia E Jønch , Alessandro De Luca , Geert Mortier , Valérie Cormier-Daire , Alban Ziegler , Mathew Wallis , Pablo Lapunzina , Friedrich W Herberg , Susan S Taylor , Victor L Ruiz-Perez

A novel variant in GNPNAT1 gene causing a spondylo-epi-metaphyseal dysplasia resembling PGM3-Desbuquois like dysplasia.

American journal of medical genetics. Part A

Avec: Rasha Moheb Elhossini , Hoda Abdalla Ahmed , Ghada Otaify , Raghda M Ghorab , Khalda Amr , Mona Aglan

Cellular stress due to impairment of collagen prolyl hydroxylation complex is rescued by the chaperone 4-phenylbutyrate.

Disease models & mechanisms

Avec: Roberta Besio , Nadia Garibaldi , Laura Leoni , Lina Cipolla , Simone Sabbioneda , Marco Biggiogera , Monica Mottes , Mona Aglan , Ghada A Otaify , Samia A Temtamy , Antonio Rossi , Antonella Forlino

Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly.

Molecular genetics & genomic medicine

Avec: Amal M Mohamed , Alaa K Kamel , Maha M Eid , Ola M Eid , Mona Mekkawy , Shymaa H Hussein , Maha S Zaki , Samira Esmail , Hanan H Afifi , Ghada Y El-Kamah , Ghada A Otaify , Heba Ahmed El-Awady , Aya Elaidy , Mahmoud Y Essa , Mona El-Ruby , Engy A Ashaat , Saida A Hammad , Inas Mazen , Ghada M H Abdel-Salam , Mona Aglan , Samia Temtamy

Cardioprotective Potential of Sodium-Glucose Co-Transporter-2 Inhibitors in Cancer Patients Treated With Anthracyclines: An Observational Study.

The American journal of cardiology

Avec: Ayman R Fath , Mostafa Aglan , Amro Aglan , Robert J Chilton , Anatole Trakhtenbroit , Odaye A Al-Shammary , Oduro Oppong-Nkrumah , Daniel J Lenihan , Susan F Dent , Prince Otchere

Clinical and molecular characterization in a cohort of patients with progressive pseudorheumatoid dysplasia.

American journal of medical genetics. Part A

Avec: Dina El Dessouki , Khalda Amr , Naglaa Kholoussi , Hanaa M Rady , Samia Ali Temtamy , Manal M S Abdou , Mona Aglan

Réseau de co-auteurs

Mona Aglan 13 collaborations

Ghada A Otaify 8 collaborations

Samia Temtamy 6 collaborations

Pablo Lapunzina 5 collaborations

Victor L Ruiz-Perez 4 collaborations

Ghada Otaify 4 collaborations

Ana Rivera-Barahona 3 collaborations

Rasha Elhossini 3 collaborations

Maha S Zaki 3 collaborations

Samira Ismail 3 collaborations

Khalda Amr 3 collaborations

Elisa Fernández-Núñez 2 collaborations

Julian Nevado 2 collaborations

Asier Iturrate 2 collaborations

Carmen-Lisset Flores 2 collaborations

Julián Nevado 2 collaborations

Francesca Piceci-Sparascio 2 collaborations

Alessandro De Luca 2 collaborations

Umut Altunoglu 2 collaborations

Ebtesam Abdalla 2 collaborations

Adrian Palencia-Campos 2 collaborations

Jair Tenorio 2 collaborations

Ghada M H Abdel-Salam 2 collaborations

Amal M Mohamed 2 collaborations

Samia A Temtamy 2 collaborations

Engy A Ashaat 2 collaborations

Mohamed S Abdel-Hamid 2 collaborations

Rasha Moheb Elhossini 2 collaborations

Denise Horn 1 collaboration

Ricardo Gomez-Carmona 1 collaboration

Sarina Schwartzmann 1 collaboration

Nadja Ehmke 1 collaboration

Felix Boschann 1 collaboration

Marina L Perez-Sanz 1 collaboration

Jair Tenorio-Castano 1 collaboration

Juan Carlos Triviño 1 collaboration

Francesc R Garcia-Gonzalo 1 collaboration

Leopoldo Martínez 1 collaboration

Tugba Kalaycı 1 collaboration

Nilay Güneş 1 collaboration

Gozde Tutku Turgut 1 collaboration

Maria Valencia 1 collaboration

Adel Ashour 1 collaboration

Asmaa K Amin 1 collaboration

Rania F Elnahas 1 collaboration

Elisa Fernandez-Nuñez 1 collaboration

Pedro Arias 1 collaboration

Carlos Israel Chamorro Fernández 1 collaboration

Yeliz Güven 1 collaboration

Elif Özsu 1 collaboration

Beray Selver Eklioğlu 1 collaboration

Marisol Ibarra-Ramirez 1 collaboration

Birgitte Rode Diness 1 collaboration

Birute Burnyte 1 collaboration

Houda Ajmi 1 collaboration

Zafer Yüksel 1 collaboration

Ruken Yıldırım 1 collaboration

Edip Ünal 1 collaboration

Hulya Kayserili 1 collaboration

Beyhan Tuysuz 1 collaboration

Victor Ruiz-Pérez 1 collaboration

Ranad Shaheen 1 collaboration

Sateesh Maddirevula 1 collaboration

Nour Ewida 1 collaboration

Saud Alsahli 1 collaboration

Saeed Al Tala 1 collaboration

Amal Alhashem 1 collaboration

Ameen Softah 1 collaboration

Mohammed Al-Owain 1 collaboration

Anas M Alazami 1 collaboration

Basma Abadel 1 collaboration

Nisha Patel 1 collaboration

Tarfa Al-Sheddi 1 collaboration

Rana Alomar 1 collaboration

Eman Alobeid 1 collaboration

Niema Ibrahim 1 collaboration

Mais Hashem 1 collaboration

Firdous Abdulwahab 1 collaboration

Muddathir Hamad 1 collaboration

Brahim Tabarki 1 collaboration

Ali H Alwadei 1 collaboration

Fahad Alhazzani 1 collaboration

Fahad A Bashiri 1 collaboration

Amal Kentab 1 collaboration

Serdar Şahintürk 1 collaboration

Elliott Sherr 1 collaboration

Brieana Fregeau 1 collaboration

Samira Sogati 1 collaboration

Saad Ali M Alshahwan 1 collaboration

Salwa Alkhalifi 1 collaboration

Zainab Alhumaidi 1 collaboration

Katta M Girisha 1 collaboration

Maha Tulbah 1 collaboration

Mohammed Zain Seidahmed 1 collaboration

Mustafa A Salih 1 collaboration

Mohamed Abouelhoda 1 collaboration

Afaque A Momin 1 collaboration

Muna Al Saffar 1 collaboration

Jennifer N Partlow 1 collaboration

Stefan T Arold 1 collaboration

Eissa Faqeih 1 collaboration

Christopher Walsh 1 collaboration

Fowzan S Alkuraya 1 collaboration

Rabab Khairat 1 collaboration

Nara Sobreira 1 collaboration

Elizabeth Wohler 1 collaboration

Ehab R Abdel Raouf 1 collaboration

Inas Sayed 1 collaboration

Manal M Thomas 1 collaboration

Mona L Essawi 1 collaboration

Heba A Hassan 1 collaboration

Sonia A Alsaiedi 1 collaboration

Mona O El Ruby 1 collaboration

María Cristina Estañ 1 collaboration

María Isabel Esteban 1 collaboration

Sandra Donkervoort 1 collaboration

Cynthia Hawkins 1 collaboration

José A Caparros-Martin 1 collaboration

Dimah Saade 1 collaboration

Ying Hu 1 collaboration

Véronique Bolduc 1 collaboration

Katherine Ru-Yui Chao 1 collaboration

Ana Lamuedra 1 collaboration

Raquel Largo 1 collaboration

Gabriel Herrero-Beaumont 1 collaboration

Javier Regadera 1 collaboration

Concepción Hernandez-Chico 1 collaboration

Eduardo F Tizzano 1 collaboration

Victor Martinez-Glez 1 collaboration

Jaime J Carvajal 1 collaboration

Ruiting Zong 1 collaboration

David L Nelson 1 collaboration

Mahmoud Issa 1 collaboration

Carsten G Bönnemann 1 collaboration

Grace Yoon 1 collaboration

Hoda A Ahmed 1 collaboration

R Elhossini 1 collaboration

M Aglan 1 collaboration

Kelly Chen 1 collaboration

Alexandra Purcell 1 collaboration

Lina Nurhussien 1 collaboration

Petros Koutrakis 1 collaboration

Brent A Coull 1 collaboration

Andrew Synn 1 collaboration

Mary B Rice 1 collaboration

Engy Ashaat 1 collaboration

Heba Dawoud 1 collaboration

Khalid Elshimy 1 collaboration

Mona El Ruby 1 collaboration

Phillip C Aoto 1 collaboration

Erik M F Machal 1 collaboration

Patricia Soto-Bielicka 1 collaboration

Daniela Bertinetti 1 collaboration

Blaine Baker 1 collaboration

Lily Vu 1 collaboration

Isabella Torrente 1 collaboration

Eveline Boudin 1 collaboration

Silke Peeters 1 collaboration

Wim Van Hul 1 collaboration

Celine Huber 1 collaboration

Dominique Bonneau 1 collaboration

Michael S Hildebrand 1 collaboration

Matthew Coleman 1 collaboration

Melanie Bahlo 1 collaboration

Mark F Bennett 1 collaboration

Amy L Schneider 1 collaboration

Ingrid E Scheffer 1 collaboration

Maria Kibæk 1 collaboration

Britta S Kristiansen 1 collaboration

Mahmoud Y Issa 1 collaboration

Mennat I Mehrez 1 collaboration

Gaoyang Li 1 collaboration

Bjørn Steen Skålhegg 1 collaboration

Aia E Jønch 1 collaboration

Geert Mortier 1 collaboration

Valérie Cormier-Daire 1 collaboration

Alban Ziegler 1 collaboration

Mathew Wallis 1 collaboration

Friedrich W Herberg 1 collaboration

Susan S Taylor 1 collaboration

Hoda Abdalla Ahmed 1 collaboration

Raghda M Ghorab 1 collaboration

Roberta Besio 1 collaboration

Nadia Garibaldi 1 collaboration

Laura Leoni 1 collaboration

Lina Cipolla 1 collaboration

Simone Sabbioneda 1 collaboration

Marco Biggiogera 1 collaboration

Monica Mottes 1 collaboration

Antonio Rossi 1 collaboration

Antonella Forlino 1 collaboration

Alaa K Kamel 1 collaboration

Maha M Eid 1 collaboration

Ola M Eid 1 collaboration

Mona Mekkawy 1 collaboration

Shymaa H Hussein 1 collaboration

Samira Esmail 1 collaboration

Hanan H Afifi 1 collaboration

Ghada Y El-Kamah 1 collaboration

Heba Ahmed El-Awady 1 collaboration

Aya Elaidy 1 collaboration

Mahmoud Y Essa 1 collaboration

Mona El-Ruby 1 collaboration

Saida A Hammad 1 collaboration

Inas Mazen 1 collaboration

Ayman R Fath 1 collaboration

Amro Aglan 1 collaboration

Robert J Chilton 1 collaboration

Anatole Trakhtenbroit 1 collaboration

Odaye A Al-Shammary 1 collaboration

Oduro Oppong-Nkrumah 1 collaboration

Daniel J Lenihan 1 collaboration

Susan F Dent 1 collaboration

Prince Otchere 1 collaboration

Dina El Dessouki 1 collaboration

Naglaa Kholoussi 1 collaboration

Hanaa M Rady 1 collaboration

Samia Ali Temtamy 1 collaboration

Manal M S Abdou 1 collaboration