Ariana Kariminejad

kariminejad - najmabadi pathology & genetics center

H指数:35

被引数:4,398

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Inherited metabolic disorder-related genes and mutation spectrum in Iranians: an 11-year analysis using next-generation sequencing and sanger sequencing

伊朗人遗传代谢病相关基因及突变谱：一项基于下一代测序和Sanger测序的11年分析

Orphanet Journal of Rare Diseases

IF3.5

2026-10-020

OAAI

Parnian Alagha; Negar Molaei; Maryam Beheshtian; Fatemeh Ahangari; Shima Dehdahsi; Mahsa Fadaee; Mehri Ashki; Zhila Ghaderi; Zohreh Elahi; Raheleh Vazehan; Maryam Mozaffarpour Nouri; Parishad Saei; Khadijeh Noudehi; Fatemeh Fatehi; Shima Zamanian Najafabadi; Fariba Afroozan; Banafsheh Salmani; Mahdieh kooshki; Armita Ghaderi; Zohreh Vahidi; Mina Makvand; Atiyeh Ahmadpour; Mahsa Tahmasebivand; Elmira Shiuokhi; Saeed Talebi; Reza Shervin Badv; Babak Zamani; Farhad Mahvelati-Shamsabadi; Bahram Haghi Ashtiani; Payam Sarraf; Haleh Habibi; Afshin Fayyazi; Ali Asghar Okhovat; Mahmoud Reza Ashrafi; Farzad Fatehi; Parvaneh Karimzadeh; Shahriar Nafissi; Kimia Kahrizi; Ariana Kariminejad; Hossein Najmabadi

Homozygous FDXR variant in twin sisters with spastic paraparesis followed by acute progressive flaccid quadriparesis

同卵双胞胎姐妹中伴有痉挛性轻截瘫，随后出现急性进行性弛缓性四肢轻瘫的FDXR纯合变异

BMC Neurology

IF2.2

2026-02-230

PRE

A Cohort of Iranian Patients With Congenital Myasthenic Syndrome due to Glycosylation Defects

一组因糖基化缺陷导致先天性肌无力综合征的伊朗患者

MUSCLE & NERVE

IF3.1

2025-11-010

A clinical and genotype-phenotype analysis of MACF1 variants

MACF1变异的临床与基因型-表型分析

The American Journal of Human Genetics

IF0

2025-09-080

PRE

Jordy Dekker; Rachel Schot; Kimberly A. Aldinger; David B. Everman; Camerun Washington; Julie R. Jones; Jennifer A. Sullivan; Rebecca C. Spillmann; Vandana Shashi; Antonio Vitobello; Anne-Sophie Denommé-Pichon; Anne-Laure Mosca-Boidron; Laurence Perrin; Stéphane Auvin; Maha S. Zaki; Joseph G. Gleeson; Naomi Meave; Cassidy Wallace; Sophie Nambot; Julian Delanne; Sarah M. Ruggiero; Ingo Helbig; Mark P. Fitzgerald; Richard J. Leventer; Dorothy K. Grange; Emanuela Argilli; Elliott H. Sherr; Supraja Prakash; Derek E. Neilson; Francesco Nicita; Antonella Sferra; Enrico S. Bertini; Chiara Aiello; Knut Brockmann; Alexander B. Kuranov; Silke Kaulfuss; Sulman Basit; Majed Alluqmani; Ahmad Almatrafi; Jan M. Friedman; Colleen Guimond; Faruq Mohammed; Pooja Sharma; Divya Goel; Thomas Wirth; Mathieu Anheim; Paulina Bahena; Asuman Koparir; Konstantinos Kolokotronis; Barbara Vona; Thomas Haaf; Erdmute Kunstmann; Reza Maroofian; Henrike L. Sczakiel; Felix Boschann; Mala Misra-Isrie; Raymond J. Louie; Elliot S. Stolerman; Pedro A. Sanchez-Lara; Sandra Mergler; Renske Oegema; Yuri A. Zarate; Ariana Kariminejad; Homa Tajsharghi; Shimriet Zeidler; Anneke J.A. Kievit; Arjan Bouman; Gerarda Cappuccio; Nicola Brunetti-Pierri; Kyra E. Stuurman; Dayna Morel Swols; Mustafa Tekin; Jariya Upadia; Donna M. Martin; Daniel Craven; Susan M. Hiatt; Laura A. van de Pol; Felice D'Arco; Henri Margot; Martina Wilke; Soheil Yousefi; Tahsin Stefan Barakat; Monique M. van Veghel-Plandsoen; Eleonora Aronica; Jasper Anink; Stephen L. Rogers; Kevin C. Slep; Dan Doherty; William B. Dobyns; Grazia M.S. Mancini

COLQ-Congenital myasthenic syndrome in an Iranian cohort: the clinical and genetics spectrum

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2024-03-122

OAAI

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

BRAIN

IF11.7

2023-02-094

OAAI

Saffari, Afshin; Lau, Tracy; Tajsharghi, Homa; Karimiani, Ehsan Ghayoor; Kariminejad, Ariana; Efthymiou, Stephanie; Zifarelli, Giovanni; Sultan, Tipu; Toosi, Mehran Beiraghi; Sedighzadeh, Sahar; Siu, Victoria Mok; Dario Ortigoza-Escobar, Juan; AlShamsi, Aisha M.; Ibrahim, Shahnaz; Al-Sannaa, Nouriya Abbas; Al-Hertani, Walla; Sandra, Whalen; Tarnopolsky, Mark; Alavi, Shahryar; Li, Chumei; Day-Salvatore, Debra-Lynn; Jesus Martinez-Gonzalez, Maria; Levandoski, Kristin M.; Bedoukian, Emma; Madan-Khetarpal, Suneeta; Idleburg, Michaela J.; Menezes, Minal Juliet; Siddharth, Aishwarya; Platzer, Konrad; Oppermann, Henry; Smitka, Martin; Collins, Felicity; Lek, Monkol; Shahrooei, Mohmmad; Ghavideldarestani, Maryam; Herman, Isabella; Rendu, John; Faure, Julien; Baker, Janice; Bhambhani, Vikas; Calderwood, Laurel; Akhondian, Javad; Imannezhad, Shima; Mirzadeh, Hanieh Sadat; Hashemi, Narges; Doosti, Mohammad; Safi, Mojtaba; Ahangari, Najmeh; Torbati, Paria Najarzadeh; Abedini, Soheila; Salpietro, Vincenzo; Gulec, Elif Yilmaz; Eshaghian, Safieh; Ghazavi, Mohammadreza; Pascher, Michael T.; Vogel, Marina; Abicht, Angela; Moutton, Sebastien; Bruel, Ange-Line; Rieubland, Claudine; Gallati, Sabina; Strom, Tim M.; Lochmueller, Hanns; Mohammadi, Mohammad Hasan; Alvi, Javeria Raza; Zackai, Elaine H.; Keena, Beth A.; Skraban, Cara M.; Berger, Seth, I; Andrew, Erin H.; Rahimian, Elham; Morrow, Michelle M.; Wentzensen, Ingrid M.; Millan, Francisca; Henderson, Lindsay B.; Dafsari, Hormos Salimi; Jungbluth, Heinz; Gomez-Ospina, Natalia; McRae, Anne; Peter, Merlene; Veltra, Danai; Marinakis, Nikolaos M.; Sofocleous, Christalena; Ashrafzadeh, Farah; Pehlivan, Davut; Lemke, Johannes R.; Melki, Judith; Benezit, Audrey; Bauer, Peter; Weis, Denisa; Lupski, James R.; Senderek, Jan; Christodoulou, John; Chung, Wendy K.; Goodchild, Rose; Offiah, Amaka C.; Moreno-De-Luca, Andres; Suri, Mohnish; Ebrahimi-Fakhari, Darius; Houlden, Henry; Maroofian, Reza

Kyphoscoliotic Ehlers-Danlos syndrome caused by pathogenic variants in FKBP14: Further insights into the phenotypic spectrum and pathogenic mechanisms

HUMAN MUTATION

IF3.7

2022-09-124

PRE

RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian disorder

HUMAN MOLECULAR GENETICS

IF3.2

2022-06-020

Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema

SCIENCE TRANSLATIONAL MEDICINE

IF14.6

2022-03-0221

PRE

Byrne, Alicia B.; Brouillard, Pascal; Sutton, Drew L.; Kazenwadel, Jan; Montazaribarforoushi, Saba; Secker, Genevieve A.; Oszmiana, Anna; Babic, Milena; Betterman, Kelly L.; Brautigan, Peter J.; White, Melissa; Piltz, Sandra G.; Thomas, Paul Q.; Hahn, Christopher N.; Rath, Matthias; Felbor, Ute; Korenke, G. Christoph; Smith, Christopher L.; Wood, Kathleen H.; Sheppard, Sarah E.; Adams, Denise M.; Kariminejad, Ariana; Helaers, Raphael; Boon, Laurence M.; Revencu, Nicole; Moore, Lynette; Barnett, Christopher; Haan, Eric; Arts, Peer; Vikkula, Miikka; Scott, Hamish S.; Harvey, Natasha L.

Identifying the causes of recurrent pregnancy loss in consanguineous couples using whole exome sequencing on the products of miscarriage with no chromosomal abnormalities

SCIENTIFIC REPORTS

IF3.9

2021-03-2614

OAAI

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

SCIENTIFIC REPORTS

IF3.9

2020-12-108

OAAI

Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived From Structural and Functional Analysis of 14 ClC-7 Mutants

JOURNAL OF BONE AND MINERAL RESEARCH

IF5.9

2020-10-3017

OAAI

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa (vol 100, pg 216, 2017)

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2020-08-017

OAAI

Van Damme, Tim; Gardeitchik, Thatjana; Mohamed, Miski; Guerrero-Castillo, Sergio; Freisinger, Peter; Guillemyn, Brecht; Kariminejad, Ariana; Dalloyaux, Daisy; van Kraaij, Sanne; Lefeber, Dirk J.; Syx, Delfien; Steyaert, Wouter; De Rycke, Riet; Hoischen, Alexander; Kamsteeg, Erik-Jan; Wong, Sunnie Y.; van Scherpenzeel, Monique; Jamali, Payman; Brandt, Ulrich; Nijtmans, Leo; Korenke, G. Christoph; Chung, Brian H. Y.; Mak, Christopher C. Y.; Hausser, Ingrid; Kornak, Uwe; Fischer-Zirnsak, Bjorn; Strom, Tim M.; Meitinger, Thomas; Alanay, Yasemin; Utine, Gulen E.; Leung, Kai Ching Peter; Ghaderi-Sohi, Siavash; Coucke, Paul; Symoens, Sofie; De Paepe, Anne; Thiel, Christian; Haack, Tobias B.; Malfait, Fransiska; Morava, Eva; Callewaert, Bert; Wevers, Ron A.

Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders

HUMAN MUTATION

IF3.7

2020-07-1516

OAAI

Abdelfattah, Fatima; Kariminejad, Ariana; Kahlert, AnneKarin; Morrison, Patrick J.; Gumus, Evren; Mathews, Katherine D.; Darbro, Benjamin W.; Amor, David J.; Walsh, Maie; Sznajer, Yves; Weiss, Luisa; Weidensee, Sabine; Chitayat, David; Shannon, Patrick; Bermejo-Sanchez, Eva; Riano-Galan, Isolina; Hayes, Ian; Poke, Gemma; Rooryck, Caroline; Pennamen, Perrine; Khung-Savatovsky, Suonavy; Toutain, Annick; Vuillaume, Marie-Laure; Ghaderi-Sohi, Siavash; Kariminejad, Mohamad H.; Weinert, Soenke; Sticht, Heinrich; Zenker, Martin; Schanze, Denny

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

HUMAN MUTATION

IF3.7

2020-01-2513

OAAI

Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2019-12-0120

OAAI

Homozygous Biallelic KRT5 Mutations in Epidermolysis Bullosa Simplex, Including a Complete Human Keratin 5 Knock-Out, in Families with Extensive Consanguinity

JOURNAL OF INVESTIGATIVE DERMATOLOGY