Hassan Vahidnezhad

Affiliations
  • Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA, USA.
ORCID: 0000-0003-4298-9147

Publications (64)

Genotype-phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis.

The British journal of dermatology
Avec: J K Simpson , M Martinez-Queipo , A Onoufriadis , S Tso , E Glass , L Liu , T Higashino , W Scott , C Tierney , M A Simpson , R Desomchoke , L Youssefian , A H SaeIdian , H Vahidnezhad , A Bisquera , J Ravenscroft , C Moss , E A O'Toole , N Burrows , S Leech , E A Jones , D Lim , A Ilchyshyn , N Goldstraw , M J Cork , S Darne , J Uitto , A E Martinez , J E Mellerio , J A McGrath

Linear basal cell nevus with a novel mosaic PTCH1 mutation.

Experimental dermatology
Avec: Amir Hossein Saeidian , Adam Cohen-Nowak , Megan O'Donnell , Doaa Shalabi , Kathleen P McGuinn , Leila Youssefian , Fatemeh Niaziorimi , Bahar Dasgeb , David A Kasper , Jason B Lee , Jouni Uitto , Neda Nikbakht

Applications of Spherical Nucleic Acid Nanoparticles as Delivery Systems.

Trends in molecular medicine
Avec: Ahad Mokhtarzadeh , Leila Youssefian , Jafar Mosafer , Behzad Baradaran , Jouni Uitto

Biallelic KRT5 mutations in autosomal recessive epidermolysis bullosa simplex, including a complete human keratin 5 "knock-out".

Matrix biology : journal of the International Society for Matrix Biology
Avec: Leila Youssefian , Maryam Daneshpazhooh , Hamidreza Mahmoudi , Ariana Kariminejad , Judith Fischer , Julie Christiansen , Holm Schneider , Alyson Guy , Lu Liu , John A McGrath , Cristina Has , Jouni Uitto

Widespread aplasia cutis congenita in sibs with PLEC1 and ITGB4 variants.

American journal of medical genetics. Part A
Avec: Ariana Kariminejad , Siavash Ghaderi-Sohi , Ali R Ghannadan , Leila Youssefian , Elham Parsimehr , Mehrshid Faraji Zonooz , Mohammad H Kariminejad , Jouni Uitto , Hossein Najmabadi , Raoul C Hennekam

Knockdown of SDR9C7 Impairs Epidermal Barrier Function.

The Journal of investigative dermatology
Avec: Leila Youssefian , Fatemeh Niaziorimi , Amir Hossein Saeidian , Andrew P South , Farzaneh Khosravi-Bachehmir , Sadegh Khodavaisy , Jouni Uitto

Whole-Transcriptome Analysis by RNA Sequencing for Genetic Diagnosis of Mendelian Skin Disorders in the Context of Consanguinity.

Clinical chemistry
Avec: Leila Youssefian , Amir Hossein Saeidian , Fahimeh Palizban , Atefeh Bagherieh , Fahimeh Abdollahimajd , Soheila Sotoudeh , Nikoo Mozafari , Rahele A Farahani , Hamidreza Mahmoudi , Sadegh Babashah , Masoud Zabihi , Sirous Zeinali , Paolo Fortina , Julio C Salas-Alanis , Andrew P South , Jouni Uitto

Mycophenolate mofetil treatment of an H syndrome patient with a SLC29A3 mutation.

Dermatologic therapy
Avec: Elham Behrangi , Afsaneh Sadeghzadeh-Bazargan , Sepehr Khosravi , Mahsa Shemshadi , Leila Youssefian , Azadeh Goodarzi , Jouni Uitto

Genetic Predisposition to Numerous Large Ulcerating Basal Cell Carcinomas and Response to Immune Therapy.

International journal of dermatology and venereology
Avec: Bahar Dasgeb , Youssefian Leila , Amir Hossein Saeidian , Jun Kang , Wenyin Shi , Elizabeth Shoenberg , Adam Ertel , Paolo Fortina , Jouni Uitto

Pathogenic DST sequence variants result in either epidermolysis bullosa simplex (EBS) or hereditary sensory and autonomic neuropathy type 6 (HSAN-VI).

Experimental dermatology
Avec: Raziyeh Khalesi , Nailah Harvey , Masoud Garshasbi , Elnaz Kalamati , Leila Youssefian , Jouni Uitto

Pachyonychia congenita: a case report of a successful treatment with rosuvastatin in a patient with a KRT6A mutation.

The British journal of dermatology
Avec: F Abdollahimajd , F Rajabi , M Shahidi-Dadras , S Saket , L Youssefian , H Vahidnezhad , J Uitto

Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families.

Human mutation
Avec: Leila Youssefian , Amir Hossein Saeidian , Andrew Touati , Soheila Sotoudeh , Hamidreza Mahmoudi , Parvin Mansouri , Maryam Daneshpazhooh , Nessa Aghazadeh , Kambiz Kamyab Hesari , Mohammadreza Basiri , Eric Londin , Gaurav Kumar , Sirous Zeinali , Paolo Fortina , Jouni Uitto

Inherited Interleukin 2-Inducible T-Cell (ITK) Kinase Deficiency in Siblings With Epidermodysplasia Verruciformis and Hodgkin Lymphoma.

Clinical infectious diseases : an official publication of the Infectious Diseases Society of America
Avec: Leila Youssefian , Mehdi Yousefi , Amir Hossein Saeidian , Arghavan Azizpour , Andrew Touati , Neda Nikbakht , Kambiz Kamyab- Hesari , Mohammad Mahdi Adib-Sereshki , Sirous Zeinali , Behzad Mansoori , Ali Jazayeri , Razieh Karamzadeh , Paolo Fortina , Emmanuelle Jouanguy , Jean-Laurent Casanova , Jouni Uitto

Research Techniques Made Simple: Whole-Transcriptome Sequencing by RNA-Seq for Diagnosis of Monogenic Disorders.

The Journal of investigative dermatology
Avec: Amir Hossein Saeidian , Leila Youssefian , Jouni Uitto

Association of MTHFR C677T polymorphism with elevated homocysteine level and disease development in vitiligo.

International journal of immunogenetics
Avec: Arash Bagheri Hamidi , Nastaran Namazi , Mahsa Mohammad Amoli , Maliheh Amani , Morteza Gholami , Leila Youssefian , Fahimeh Abdollahimajd , Jouni Uitto

Keratitis-ichthyosis-deafness syndrome: Phenotypic heterogeneity and treatment perspective of patients with p.Asp50Asn GJB2 mutation.

Dermatologic therapy
Avec: Tina Asgari , Mahtab Naji , Parvin Mansouri , Hamidreza Mahmoudi , Masoud Zabihi , Leila Youssefian , Mohammadreza Mahdavi , Zahra Safaei Naraghi , Sirous Zeinali , Jouni Uitto

Humans with inherited T cell CD28 deficiency are susceptible to skin papillomaviruses but are otherwise healthy.

Cell
Avec: Vivien Béziat , Franck Rapaport , Jiafen Hu , Matthias Titeux , Mathilde Bonnet des Claustres , Mathieu Bourgey , Heather Griffin , Élise Bandet , Cindy S Ma , Roya Sherkat , Hassan Rokni-Zadeh , David M Louis , Majid Changi-Ashtiani , Ottavia M Delmonte , Toshiaki Fukushima , Tanwir Habib , Andrea Guennoun , Taushif Khan , Noemi Bender , Mahbuba Rahman , Frédégonde About , Rui Yang , Geetha Rao , Claire Rouzaud , Jingwei Li , Debra Shearer , Karla Balogh , Fatima Al Ali , Manar Ata , Soroosh Dabiri , Mana Momenilandi , Justine Nammour , Marie-Alexandra Alyanakian , Marianne Leruez-Ville , David Guenat , Marie Materna , Léa Marcot , Natasha Vladikine , Christine Soret , Leila Youssefian , Amir Hossein Saeidian , Jouni Uitto , Émilie Catherinot , Shadi Sadat Navabi , Mohammed Zarhrate , David T Woodley , Mohamed Jeljeli , Thomas Abraham , Serkan Belkaya , Lazaro Lorenzo , Jérémie Rosain , Mousa Bayat , Fanny Lanternier , Olivier Lortholary , Faramarz Zakavi , Philippe Gros , Gérard Orth , Laurent Abel , Jean-Luc Prétet , Sylvie Fraitag , Emmanuelle Jouanguy , Mark M Davis , Stuart G Tangye , Luigi D Notarangelo , Nico Marr , Tim Waterboer , David Langlais , John Doorbar , Alain Hovnanian , Neil Christensen , Xavier Bossuyt , Mohammad Shahrooei , Jean-Laurent Casanova

Interpretation of genomic sequence variants in heritable skin diseases: A primer for clinicians.

Journal of the American Academy of Dermatology
Avec: Jouni Uitto , Amir Hossein Saeidian , Leila Youssefian ,

The utility of dermal fibroblasts in treatment of skin disorders: A paradigm of recessive dystrophic epidermolysis bullosa.

Dermatologic therapy
Avec: Forough Shams , Azam Rahimpour , Simzar Hosseinzadeh , Hamideh Moravvej , Bahram Kazemi , Masoumeh Rajabibazl , Fahimeh Abdollahimajd , Jouni Uitto

Ichthyosis follicularis syndromes in patients with mutations in GJB2.

Clinical and experimental dermatology
Avec: Leila Youssefian , Mahtab Naji , Jason S Park , Fateme Rajabi , Fahimeh Abdollahimajd , Hamidreza Mahmoudi , Kambiz Kamyab-Hesari , Fariba Ghalamkarpour , Masoud Zabihi , Mehrdad Teimoorian , Laya Youssefian , Sirous Zeinali , Jouni Uitto

Inherited human ITK deficiency impairs IFN-γ immunity and underlies tuberculosis.

The Journal of experimental medicine
Avec: Masato Ogishi , Rui Yang , Rémy Rodriguez , Dominic P Golec , Emmanuel Martin , Quentin Philippot , Jonathan Bohlen , Simon J Pelham , Andrés Augusto Arias , Taushif Khan , Manar Ata , Fatima Al Ali , Flore Rozenberg , Xiao-Fei Kong , Maya Chrabieh , Candice Laine , Wei-Te Lei , Ji Eun Han , Yoann Seeleuthner , Zenia Kaul , Emmanuelle Jouanguy , Vivien Béziat , Leila Youssefian , V Koneti Rao , Bénédicte Neven , Claire Fieschi , Davood Mansouri , Mohammad Shahrooei , Sevgi Pekcan , Gulsum Alkan , Melike Emiroğlu , Hüseyin Tokgöz , Jouni Uitto , Fabian Hauck , Jacinta Bustamante , Laurent Abel , Sevgi Keles , Nima Parvaneh , Nico Marr , Pamela L Schwartzberg , Sylvain Latour , Jean-Laurent Casanova , Stéphanie Boisson-Dupuis

Inherited ichthyosis as a paradigm of rare skin disorders: Genomic medicine, pathogenesis, and management.

Journal of the American Academy of Dermatology
Avec: Jason S Park , Amir Hossein Saeidian , Leila Youssefian , Katherine E Kondratuk , Howard B Pride , Jouni Uitto

Acquired ichthyosis, asteatotic dermatitis or xerosis? An update on pathoetiology and drug-induced associations.

Journal of the European Academy of Dermatology and Venereology : JEADV
Avec: Jason S Park , Amir H Saeidian , Leila Youssefian , Sylvia Hsu , Jouni Uitto

High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry.

Neurogenetics
Avec: Mahmoudreza Ashrafi , Reyhaneh Kameli , Sareh Hosseinpour , Ehsan Razmara , Zahra Zamani , Zahra Rezaei , Raziyeh Mashayekhi , Neda Pak , Mohammad Barzegar , Reza Azizimalamiri , Morteza Rezvani Kashani , Nahideh Khosroshahi , Maryam Rasulinezhad , Morteza Heidari , Man Amanat , Alireza Abdi , Bahram Mohammadi , Mahmoud Mohammadi , Gholam Reza Zamani , Reza Shervin Badv , Abdolmajid Omrani , Sedigheh Nikbakht , Ali Hosseini Bereshneh , Mojtaba Movahedinia , Hossein Farshad Moghaddam , Hossein Shojaaldini Ardakani , Masood Ghahvechi Akbari , Mehran Beiraghi Tousi , Mohammad Vafaee Shahi , Firouzeh Hosseini , Masoud Hassanvand Amouzadeh , Seyed Ahmad Hosseini , Ali Nikkhah , Ali Khajeh , Hooman Alizadeh , Bahram Yarali , Mohammad Rohani , Parviz Karimi , Hadi Montazer Lotf Elahi , Seyyed Mohamad Mahdi Hosseiny , Masoumeh Sadat Sadeghzadeh , Hossein Mohebbi , Maryam Hosseini Moghadam , Hajar Aryan , Mahdieh Soveizi , Bahareh Rabbani , Ali Rabbani , Nejat Mahdieh , Masoud Garshasbi , Ali Reza Tavasoli

Genomics-based treatment in a patient with two overlapping heritable skin disorders: Epidermolysis bullosa and acrodermatitis enteropathica.

Human mutation
Avec: Leila Youssefian , Soheila Sotoudeh , Lu Liu , Alyson Guy , Patricia A Lovell , Ariana Kariminejad , Sirous Zeinali , John A McGrath , Jouni Uitto

A novel autosomal recessive GJB2-associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss, and punctate palmoplantar keratoderma.

Human mutation
Avec: Leila Youssefian , Amir Hossein Saeidian , Hamidreza Mahmoudi , Razieh Karamzadeh , Ariana Kariminejad , Jianhe Huang , Leping Li , Thomas F Jannace , Paolo Fortina , Sirous Zeinali , Thomas W White , Jouni Uitto

Arrhythmogenic right ventricular cardiomyopathy in patients with biallelic JUP-associated skin fragility.

Scientific reports
Avec: Leila Youssefian , Masoomeh Faghankhani , Nikoo Mozafari , Amir Hossein Saeidian , Fatemeh Niaziorimi , Fahimeh Abdollahimajd , Soheila Sotoudeh , Fateme Rajabi , Liaosadat Mirsafaei , Zahra Alizadeh Sani , Lu Liu , Alyson Guy , Sirous Zeinali , Ariana Kariminejad , Reginald T Ho , John A McGrath , Jouni Uitto

The quality of life in epidermolysis bullosa (EB-QoL) questionnaire: Translation, cultural adaptation, and validation into the Farsi language.

International journal of women's dermatology
Avec: Atoosa Yazdanshenas , Ezatollah Naderi , Hamideh Moravvej , Kazem Heidari , Masoomeh Faghankhani , Nikoo Mozafari

Increased level of cathelicidin (LL-37) in vitiligo: Possible pathway independent from vitamin D receptor gene polymorphism.

Experimental dermatology
Avec: Fatemeh Atazadeh , Zahra Fazeli , Nastaran Namazi , Shima Younespour , Leila Youssefian , Fahimeh Abdollahimajd , Jouni Uitto

Molecular Genetics of Keratinization Disorders - What's New About Ichthyosis.

Acta dermato-venereologica
Avec: Jouni Uitto , Leila Youssefian , Amir Hossein Saeidian ,

Kindler epidermolysis bullosa-like skin phenotype and downregulated basement membrane zone gene expression in poikiloderma with neutropenia and a homozygous USB1 mutation.

Matrix biology : journal of the International Society for Matrix Biology
Avec: Leila Youssefian , Amir Hossein Saeidian , Lynn M Boyden , Andrew Touati , Nailah Harvey , Mahtab Naji , Masoud Zabihi , Mohammadreza Barzegar , Soheila Sotoudeh , Lu Liu , Alyson Guy , Ariana Kariminejad , Sirous Zeinali , Keith A Choate , John A McGrath , Jouni Uitto

Recalcitrant Warts, Epidermodysplasia Verruciformis, and the Tree-Man Syndrome: Phenotypic Spectrum of Cutaneous Human Papillomavirus Infections at the Intersection of Genetic Variability of Viral and Human Genomes.

The Journal of investigative dermatology
Avec: Jouni Uitto , Amir Hossein Saeidian , Leila Youssefian , Zahra Saffarian , Jean-Laurent Casanova , Vivien Béziat , Emmanuelle Jouanguy ,

Whole-transcriptome sequencing identifies postzygotic ATP2A2 mutations in a patient misdiagnosed with herpes zoster, confirming the diagnosis of very late-onset segmental Darier disease.

Experimental dermatology
Avec: Fatemeh Mohaghegh , Leila Youssefian , Hamid Galehdari , Narjes Tavakoli , Jouni Uitto

Elevated Serum Levels of Interleukin-15 in Pemphigus Vulgaris Patients: a Potential Therapeutic Target.

Dermatology practical & conceptual
Avec: Maedeh Kheirodin , Zohreh Tehranchinia , Yasaman Ketabi , Soheil Tavakolpour , Sahar Dadkhahfar , Masoomeh Faghankhani , Nikoo Mozafari

Whole transcriptome-based skin virome profiling in typical epidermodysplasia verruciformis reveals α-, β-, and γ-HPV infections.

JCI insight
Avec: Amir Hossein Saeidian , Leila Youssefian , Mahtab Naji , Hamidreza Mahmoudi , Samantha M Barnada , Charles Huang , Karim Naghipoor , Amir Hozhabrpour , Jason S Park , Flavia Manzo Margiotta , Fatemeh Vahidnezhad , Zahra Saffarian , Kambiz Kamyab-Hesari , Mohammad Tolouei , Niloofar Faraji , Seyyede Zeinab Azimi , Ghazal Namdari , Parvin Mansouri , Jean-Laurent Casanova , Vivien Béziat , Emmanuelle Jouanguy , Jouni Uitto ,

A comprehensive study of mutation and phenotypic heterogeneity of childhood mitochondrial leukodystrophies.

Brain & development
Avec: Sareh Hosseinpour , Ehsan Razmara , Morteza Heidari , Zahra Rezaei , Mahmoud Reza Ashrafi , Ali Zare Dehnavi , Reyhaneh Kameli , Ali Hosseini Bereshneh , Reza Azizimalamiri , Zahra Zamani , Neda Pak , Maryam Rasulinezhad , Bahram Mohammadi , Homa Ghabeli , Mohammad Ghafouri , Mahmoud Mohammadi , Gholam Reza Zamani , Reza Shervin Badv , Sasan Saket , Bahareh Rabbani , Nejat Mahdieh , Ali Ahani , Masoud Garshasbi , Ali Reza Tavasoli

Assessment of the risk and characterization of non-melanoma skin cancer in Kindler syndrome: study of a series of 91 patients.

Orphanet journal of rare diseases
Avec: Sara Guerrero-Aspizua , Claudio J Conti , Maria Jose Escamez , Daniele Castiglia , Giovanna Zambruno , Leila Youssefian , Luis Requena , Peter Itin , Gianluca Tadini , Ivelina Yordanova , Ludovic Martin , Jouni Uitto , Cristina Has , Marcela Del Rio

Phenotypic Spectrum of Epidermolysis Bullosa: The Paradigm of Syndromic versus Non-Syndromic Skin Fragility Disorders.

The Journal of investigative dermatology
Avec: Leila Youssefian , Amir Hossein Saeidian , Jouni Uitto

Ichthyosis, psoriasiform dermatitis, and recurrent fungal infections in patients with biallelic mutations in PERP.

Journal of the European Academy of Dermatology and Venereology : JEADV
Avec: L Youssefian , S Khodavaisy , F Khosravi-Bachehmir , J S Park , A H Saeidian , H Mahmoudi , Z Saffarian , Z S Naraghi , K Kamyab-Hesari , S Zeinali , H Vahidnezhad , J Uitto

ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification.

PLoS genetics
Avec: Douglas Ralph , Yvonne Nitschke , Michael A Levine , Matthew Caffet , Tamara Wurst , Amir Hossein Saeidian , Leila Youssefian , Sharon F Terry , Frank Rutsch , Jouni Uitto , Qiaoli Li

Are Dyskeratosis Congenita patients at higher risk of symptomatic COVID-19?

Medical hypotheses
Avec: Saeed Dorgaleleh , Karim Naghipoor , Amir Hozhabrpour ,

Autosomal recessive cutis laxa type 1C with a homozygous LTBP4 splicing variant: a case report and update of literature.

Molecular biology reports
Avec: Mahta Mazaheri , Hamid Reza Jahantigh , Mahdie Yavari , Seyed Reza Mirjalili ,

Pathomechanisms of epidermolysis bullosa: Beyond structural proteins.

Matrix biology : journal of the International Society for Matrix Biology
Avec: Nailah Harvey , Leila Youssefian , Amir Hossein Saeidian , Jouni Uitto

Mutation update: The spectra of PLEC sequence variants and related plectinopathies.

Human mutation
Avec: Leila Youssefian , Nailah Harvey , Ali Reza Tavasoli , Amir Hossein Saeidian , Soheila Sotoudeh , Aida Varghaei , Hamidreza Mahmoudi , Parvin Mansouri , Nikoo Mozafari , Omid Zargari , Sirous Zeinali , Jouni Uitto

Monogenic etiologies of persistent human papillomavirus infections: a comprehensive systematic review.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Sajjad Biglari , Atefeh Sohanforooshan Moghaddam , Mohammad Amin Tabatabaiefar , Roya Sherkat , Leila Youssefian , Amir Hossein Saeidian , Fatemeh Vahidnezhad , Lam C Tsoi , Johann E Gudjonsson , Hakon Hakonarson , Jean-Laurent Casanova , Vivien Béziat , Emmanuelle Jouanguy ,

Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients.

Orphanet journal of rare diseases
Avec: Ali Zare Dehnavi , Maryam Bemanalizadeh , Seyyed Mohammad Kahani , Mahmoud Reza Ashrafi , Mohammad Rohani , Mehran Beiraghi Toosi , Morteza Heidari , Sareh Hosseinpour , Behnam Amini , Shaghayegh Zokaei , Zahra Rezaei , Hajar Aryan , Man Amanat , Pouria Mohammadi , Masoud Garshasbi , Ali Reza Tavasoli

FLT3L governs the development of partially overlapping hematopoietic lineages in humans and mice.

Cell
Avec: Mana Momenilandi , Romain Lévy , Steicy Sobrino , Jingwei Li , Chantal Lagresle-Peyrou , Hossein Esmaeilzadeh , Antoine Fayand , Corentin Le Floc'h , Antoine Guérin , Erika Della Mina , Debra Shearer , Ottavia M Delmonte , Ahmad Yatim , Kevin Mulder , Mathieu Mancini , Darawan Rinchai , Adeline Denis , Anna-Lena Neehus , Karla Balogh , Sarah Brendle , Hassan Rokni-Zadeh , Majid Changi-Ashtiani , Yoann Seeleuthner , Caroline Deswarte , Boris Bessot , Cassandre Cremades , Marie Materna , Axel Cederholm , Masato Ogishi , Quentin Philippot , Omer Beganovic , Mania Ackermann , Margareta Wuyts , Taushif Khan , Sébastien Fouéré , Florian Herms , Johan Chanal , Boaz Palterer , Julie Bruneau , Thierry J Molina , Stéphanie Leclerc-Mercier , Jean-Luc Prétet , Leila Youssefian , Nima Parvaneh , Kristl G Claeys , Rik Schrijvers , Marine Luka , Philippe Pérot , Jacques Fourgeaud , Céline Nourrisson , Philippe Poirier , Emmanuelle Jouanguy , Stéphanie Boisson-Dupuis , Jacinta Bustamante , Luigi D Notarangelo , Neil Christensen , Nils Landegren , Laurent Abel , Nico Marr , Emmanuelle Six , David Langlais , Tim Waterboer , Florent Ginhoux , Cindy S Ma , Stuart G Tangye , Isabelle Meyts , Nico Lachmann , Jiafen Hu , Mohammad Shahrooei , Xavier Bossuyt , Jean-Laurent Casanova , Vivien Béziat

Whole-Transcriptome Sequencing-Based Profiling of the Cutaneous Virome in Patients with Secondary Immunodeficiency.

JID innovations : skin science from molecules to population health
Avec: Leila Youssefian , Amir Hossein Saeidian , Zahra Saffarian , Mona Ariamanesh , Fahimeh Abdollahimajd , Sara Molkara , Mohammad Shahidi-Dadras , Reem Diab , Fatemeh Vahidnezhad , Sirous Zeinali , Vivien Béziat , Emmanuelle Jouanguy , Jean-Laurent Casanova , Jouni Uitto ,

Secondary ACMG and non-ACMG genetic findings in a multiethnic cohort of 16,713 pediatric participants.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Amir Hossein Saeidian , Michael E March , Leila Youssefian , Deborah J Watson , Esha Bhandari , Xiang Wang , Xiaonan Zhao , Nichole Marie Owen , Alanna Strong , Margaret H Harr , Auteur inconnu , Elizabeth Bhoj , Elaine Zackai , Johann Gudjonsson , Stephen D Cederbaum , Joshua L Deignan , Joseph Glessner , Wayne W Grody , Hakon Hakonarson

Genome-wide single nucleotide polymorphism-based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa.

Experimental dermatology
Avec: Leila Youssefian , Amir Hossein Saeidian , Sirous Zeinali , Andrew Touati , Maryam Abiri , Soheila Sotoudeh , Sara Norouz-Zadeh , Niloufar Amirinezhad , Nikoo Mozafari , Maryam Daneshpazhooh , Hamidreza Mahmoudi , Mohammad Hamid , Jonathan P Bradfield , Cecilia E Kim , Hakon Hakonarson , Jouni Uitto

Hypotrichosis with juvenile macular dystrophy: Combination of whole-genome sequencing and genome-wide homozygosity mapping identifies a large deletion in CDH3 initially undetected by whole-exome sequencing-A lesson from next-generation sequencing.

Molecular genetics & genomic medicine
Avec: Amir Hossein Saeidian , Leila Youssefian , Soheila Sotudeh , Meisam Sargazi , Sirous Zeinali , Jouni Uitto

Inherited non-alcoholic fatty liver disease and dyslipidemia due to monoallelic ABHD5 mutations.

Journal of hepatology
Avec: Leila Youssefian , Amir Hossein Saeidian , Sara Pajouhanfar , Soheila Sotoudeh , Parvin Mansouri , Davoud Amirkashani , Sirous Zeinali , Michael A Levine , Ketty Peris , Roberto Colombo , Jouni Uitto

Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiency.

Matrix biology : journal of the International Society for Matrix Biology
Avec: Leila Youssefian , Amir Hossein Saeidian , Andrew Touati , Sara Pajouhanfar , Taghi Baghdadi , Azam Ahmadi Shadmehri , Cecilia Giunta , Marius Kraenzlin , Delfien Syx , Fransiska Malfait , Cristina Has , Su M Lwin , Razieh Karamzadeh , Lu Liu , Alyson Guy , Mohammad Hamid , Ariana Kariminejad , Sirous Zeinali , John A McGrath , Jouni Uitto

The matriptase-prostasin proteolytic cascade in dermatologic diseases.

Experimental dermatology
Avec: Andrew Touati , Amir Hossein Saeidian , Leila Youssefian , Masoomeh Faghankhani , Fatemeh Niaziorimi , Sara Pajouhanfar , Jouni Uitto

Ancestral patterns of recessive dystrophic epidermolysis bullosa mutations in Hispanic populations suggest sephardic ancestry.

American journal of medical genetics. Part A
Avec: Emily Mira Warshauer , Adam Brown , Ignacia Fuentes , Jonathan Shortt , Chris Gignoux , Francesco Montinaro , Mait Metspalu , Leila Youssefian , Joanna Jacków , Angela M Christiano , Jouni Uitto , Óscar R Fajardo-Ramírez , Julio C Salas-Alanis , John A McGrath , Liliana Consuegra , Carolina Rivera , Paul A Maier , Goran Runfeldt , Doron M Behar , Karl Skorecki , Eli Sprecher , Francis Palisson , David A Norris , Anna L Bruckner , Igor Kogut , Ganna Bilousova , Dennis R Roop

Homozygous MEFV Gene Variant and Pyrin-Associated Autoinflammation With Neutrophilic Dermatosis: A Family With a Novel Autosomal Recessive Mode of Inheritance.

JAMA dermatology
Avec: Leila Youssefian , Amir Hossein Saeidian , Vahid Ziaee , Hamidreza Mahmoudi , Nima Parvaneh , Bahar Ashjaei , Soroush Shahrokh , Kambiz Kamyab Hesari , Mohammadsadegh Soltani Zangbar , Mehdi Yousefi , Sirous Zeinali , Jouni Uitto

Genetic heterogeneity of heritable ectopic mineralization disorders in a large international cohort.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Amir Hossein Saeidian , Leila Youssefian , Jianhe Huang , Andrew Touati , Luke Kowal , Matthew Caffet , Tamara Wurst , Jagmohan Singh , Adam E Snook , Ellen Ryu , Paolo Fortina , Sharon F Terry , Jonathan G Schoenecker , Jouni Uitto , Qiaoli Li

Evaluation of neurodevelopmental symptoms in 10 cases of neonatal ichthyosis and sclerosing cholangitis syndrome.

Pediatric dermatology
Avec: Deborah Salik , Smail Hadj-Rabia , Daniel Hohl , Leila Youssefian , Adèle Rakosi , Chantal Dangoisse , Martina Marangoni , Catheline Vilain , Guillaume Smits

Recalcitrant Cutaneous Warts in a Family with Inherited ICOS Deficiency.

The Journal of investigative dermatology
Avec: Leila Youssefian , Amir Hossein Saeidian , Ali Reza Tavasoli , Elnaz Kalamati , Karim Naghipoor , Amir Hozhabrpour , Mehrnaz Mesdaghi , Zahra Saffarian , Hamidreza Mahmoudi , Mohammad Nabavi , Sima Shokri , Sirous Zeinali , Vivien Béziat , Jean-Laurent Casanova , Emmanuelle Jouanguy , Jouni Uitto ,

Losartan treatment improves recessive dystrophic epidermolysis bullosa: A case series.

Dermatologic therapy
Avec: Mohammad Reza Pourani , Parvin Mansouri , Leila Youssefian , Azadeh Rakhshan , Behzad Hajimoradi , Fahimeh Abdollahimajd , Jouni Uitto

Whole-transcriptome sequencing-based concomitant detection of viral and human genetic determinants of cutaneous lesions.

JCI insight
Avec: Amir Hossein Saeidian , Leila Youssefian , Charles Y Huang , Fahimeh Palizban , Mahtab Naji , Zahra Saffarian , Hamidreza Mahmoudi , Azadeh Goodarzi , Soheila Sotoudeh , Fatemeh Vahidnezhad , Maliheh Amani , Narjes Tavakoli , Ali Ajami , Samaneh Mozafarpoor , Mehrdad Teimoorian , Saeed Dorgaleleh , Sima Shokri , Mohammad Shenagari , Nima Abedi , Sirous Zeinali , Paolo Fortina , Vivien Béziat , Emmanuelle Jouanguy , Jean-Laurent Casanova , Jouni Uitto ,

DNA repair-related heritable photosensitivity syndromes: Mutation landscape in a multiethnic cohort of 17 multigenerational families with high degree of consanguinity.

DNA repair
Avec: Amir Hozhabrpour , Marzieh Mojbafan , Fahimeh Palizban , Fatemeh Vahidnezhad , Saeed Talebi , Maliheh Amani , Masoud Garshasbi , Anoosh Naghavi , Raziyeh Khalesi , Parvin Mansouri , Soheila Sotoudeh , Hamidreza Mahmoudi , Aida Varghaei , Maryam Daneshpazhooh , Fatemeh Karimi , Sirous Zeinali , Elnaz Kalamati , Jouni Uitto , Leila Youssefian ,

The effect of family structure on the still-missing heritability and genomic prediction accuracy of type 2 diabetes.

Human genomics
Avec: Mahmoud Amiri Roudbar , Seyed Milad Vahedi , Jin Jin , Mina Jahangiri , Hossein Lanjanian , Danial Habibi , Sajedeh Masjoudi , Parisa Riahi , Sahand Tehrani Fateh , Farideh Neshati , Asiyeh Sadat Zahedi , Maryam Moazzam-Jazi , Leila Najd-Hassan-Bonab , Seyedeh Fatemeh Mousavi , Sara Asgarian , Maryam Zarkesh , Mohammad Reza Moghaddas , Albert Tenesa , Anoshirvan Kazemnejad , Hakon Hakonarson , Fereidoun Azizi , Mehdi Hedayati , Maryam Sadat Daneshpour , Mahdi Akbarzadeh

RARS1-related hypomyelinating leukodystrophy-9 (HLD-9) in two distinct Iranian families: Case report and literature review.

Molecular genetics & genomic medicine
Avec: Sajjad Biglari , Mohammad Amin Tabatabaiefar , Hamid Reza Khorram Khorshid , Emran Esmaeilzadeh

Réseau de co-auteurs

Leila Youssefian 50 collaborations
Jouni Uitto 48 collaborations
Amir Hossein Saeidian 32 collaborations
Sirous Zeinali 19 collaborations
Hamidreza Mahmoudi 13 collaborations
Soheila Sotoudeh 10 collaborations
Emmanuelle Jouanguy 10 collaborations
Jean-Laurent Casanova 10 collaborations
Vivien Béziat 9 collaborations
Fahimeh Abdollahimajd 8 collaborations
Ariana Kariminejad 7 collaborations
Paolo Fortina 7 collaborations
Andrew Touati 7 collaborations
Parvin Mansouri 7 collaborations
John A McGrath 6 collaborations
Nikoo Mozafari 6 collaborations
Alyson Guy 5 collaborations
Lu Liu 5 collaborations
Masoud Garshasbi 5 collaborations
Mahtab Naji 5 collaborations
Ali Reza Tavasoli 5 collaborations
Zahra Saffarian 5 collaborations
Fatemeh Vahidnezhad 5 collaborations
Fatemeh Niaziorimi 4 collaborations
Maryam Daneshpazhooh 4 collaborations
Masoud Zabihi 4 collaborations
Nailah Harvey 4 collaborations
Jason S Park 4 collaborations
Masoomeh Faghankhani 4 collaborations
Amir Hozhabrpour 4 collaborations
Hakon Hakonarson 4 collaborations
L Youssefian 3 collaborations
H Vahidnezhad 3 collaborations
J Uitto 3 collaborations
Cristina Has 3 collaborations
Fahimeh Palizban 3 collaborations
Elnaz Kalamati 3 collaborations
Razieh Karamzadeh 3 collaborations
Maliheh Amani 3 collaborations
Taushif Khan 3 collaborations
Laurent Abel 3 collaborations
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Neda Pak 2 collaborations
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Man Amanat 2 collaborations
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Ali Zare Dehnavi 2 collaborations
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Sharon F Terry 2 collaborations
Qiaoli Li 2 collaborations
Saeed Dorgaleleh 2 collaborations
Aida Varghaei 2 collaborations
Sajjad Biglari 2 collaborations
Mohammad Amin Tabatabaiefar 2 collaborations
Mohammad Hamid 2 collaborations
Sima Shokri 2 collaborations
J K Simpson 1 collaboration
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