Suha Bachir

All Publications

• Heterozygous RNF13 Truncating Variants Are Associated With Developmental and Epileptic Encephalopathy. American journal of medical genetics. Part A Latner, D. R., Hiatt, S. M., Finnila, C. R., Kelley, W. V., Johnston, M., Patrick-Esteve, J., Elkhateeb, N., Kamel, M. A., Barakat, T. S., van Slegtenhorst, M., Mensah, M. A., Pang, L., Bowman, P., Lefroy, H., Cleaver, R., Palmquist, R., Karamian, A. G., Smith, E. E., Bachir, S., Monaghan, K. G., Wentzensen, I. M., Stevens, C. A., Pouncey, J., Fieg, E., Krier, J. B., de Gusmao, C. M., Pallais, J. C., Skidmore, P. T., Bisarad, P., Bakhtiari, S., Kruer, M. C., Philipps, G., Asadollahi, M., Keramatipour, M., Blanc, X., Ranza, E., Korff, C. M., Innis, J. W., Cooper, G. M., Antonarakis, S. E. 2026

  Abstract

  Developmental and epileptic encephalopathy 73 (DEE73; OMIM 618379) is an autosomal dominant severe neurodevelopmental disorder associated with pathogenic variants in the RING finger protein 13 gene (RNF13; OMIM 609247), which encodes a transmembrane E3 ubiquitin ligase. The phenotype of affected individuals includes microcephaly, seizures, intellectual disability, developmental delay, absent or limited speech, restricted movement, cortical blindness, and skeletal defects (hip dysplasia, club feet, scoliosis). The currently known DEE73 phenotype is based on two reports of four unrelated individuals: three with missense variants in a di-leucine motif that is essential for binding to the Adaptor Protein Complex 3 (AP-3), and one with a truncating variant located in the last exon. This case series of an additional 13 affected individuals with RNF13 variants (2 missense, 11 truncating) supports and broadens previous reports. Importantly, it helps to define a narrow but critical region of the protein that is intolerant to truncating variation, although the gene is not highly constrained.

  View details for DOI 10.1002/ajmg.a.70241

  View details for PubMedID 42458923

• "It didn't feel like anything unusual because we had already been through so much": Disability-Related Research Experiences of Families with Children Enrolled in the Undiagnosed Diseases Network. Genetics in medicine : official journal of the American College of Medical Genetics Mintz, K. T., Altamirano, E. N., Halley, M. C., Barton, K. S., Cho, M. K., Bernstein, J. A., Carter, J. N., Undiagnosed Diseases Network, Tabor, H. K., Quinlan, A., Elkadri, A., Beggs, A. H., La Spada, A. R., Huang, A., Foksinska, A., Paul, A., Ward, A., Krokosky, A., Tran, A. A., Gropman, A., Vargas, A., Crouse, A. B., Stergachis, A., Hurst, A., Raper, A., Slavotinek, A., Nouraee, A., Tarakad, A., Andrews, A., McMinn, A., Iverson, A., Pusey Swerdzewski, B. N., Afzali, B., Solomon, B., Martin, B. A., Wilk, B. M., Mitchell, B., Lanpher, B. C., Lee, B. H., Fogel, B. L., Bordini, B., Graham, B. H., Gelb, B., Korf, B. R., Toro, C., Skraban, C., Bacino, C. A., Prada, C., Smith, C. A., Shyr, C., Esteves, C., Xiao, C., Cunningham-Rundles, C., Reuter, C. M., Eng, C. M., Mayhew, C., Chan, C., Wahl, C. E., Welt, C. K., Tifft, C. J., Ward, D. I., Kiley, D., Sayer, D., Rader, D. J., Wegner, D., Miller, D. E., Scott, D. A., Viskochil, D., Sweetser, D. A., Chiang, D., Adams, D. R., Barbouth, D., Rao, D. A., Oglesbee, D., Bonner, D., Basel, D., Novacic, D., Baldridge, D., Seto, E., Rosenthal, E., Worthey, E. A., Burke, E. A., Blue, E., Chao, E. C., Wohler, E., Macnamara, E. F., Balton, E., Glanton, E., Shelkowitz, E., Mendonca, E., Allenspach, E., Gamazon, E., Gayle, E., Klee, E., Vilain, E., Davis, E., Wishart, E. A., Conboy, E., Baldwin, E. E., Ashley, E. A., Cole, F. S., Pinto E Vairo, F., High, F., Vetrini, F., Bustos, F., Hisama, F. M., Marth, G., Jarvik, G. P., Mochida, G., Carvalho, G., Berry, G. T., Mirzaa, G., Sirugo, G., Kilich, G., Bademci, G., Mendez, H. R., Wood, H., Taylor, H., Tabor, H. K., Dai, H., Chao, H., Bellen, H. J., Glass, I., Lanza, I. R., Holm, I. A., Kohane, I. S., Chinn, I., Pallais, J. C., Sampson, J. B., Orengo, J. P., Verbsky, J., Sninsky, J., Hom, J., Schend, J., Kohler, J. N., Morgan, J., Schymick, J., Tousseau, J., Wambach, J., Fu, J., Rosenfeld, J. A., Shin, J., Jen, J., Gonzalez, J. M., Phillips, J. A., Carey, J., Gorzynski, J. E., Davis, J., Bernstein, J. A., Abdenur, J., Loscalzo, J., Cogan, J. D., Martinez-Agosto, J. A., Hoover-Fong, J., McCarrier, J., Darr, K., Lee Yap, K., Callaway, K., Leppig, K. A., Sisco, K. A., Page, K., Sullivan, K., Dipple, K., Treat, K. M., Regan-Fendt, K., Schoch, K., Smith, K. S., Liaqat, K., Worley, K., Ezell, K., LeBlanc, K., Latchman, K., Perera, L., Rodan, L. H., Keehan, L., Blieden, L., Briere, L. C., Jeffries, L., Wiel, L., Abi Farraj, L. F., Petcharet, L., Peart, L., Mantcheva, L., Solnica-Krezel, L., Burrage, L. C., Mulvihill, L., Bastarache, L., Schimmenti, L., Botto, L., Potocki, L., Bier, L., Rives, L., Wolfe, L. A., Barbosa, M., Steenari, M., Butte, M. J., Balwani, M., Delgado, M., Ortuno Romero, M. J., Silva, M. P., Acosta, M. T., Morimoto, M., Shadrina, M., Wener, M., Sabaii, M., Horike-Pyne, M., Martin, M. G., Rodriguez, M., Koziura, M., Velinder, M., Might, M., Robinson, M., Wheeler, M. T., Malicdan, M. C., Bell, M., Halley, M. C., Walker, M., Levanto, M., Bamshad, M., Wangler, M. F., Muriello, M., Zimmermann, M. T., Leitheiser, M., Mikati, M., Saifeddine, M., Hubshman, M. W., Lek, M., Westerfield, M., Tekin, M., Dorrani, N., Sobreira, N., Parker, N. H., Hanchard, N., Borja, N., Longo, N., Walley, N. M., Jean-Marie, O., Witmer, P. D., Goddard, P. C., Moretti, P., Dickson, P., McMullen, P., Auwaerter, P., Berger, P., Fisher, P. G., Liu, P., Byers, P., Bayrak-Toydemir, P., Lertwilaiwittaya, P., D'Souza, P., Tan, Q., Ungar, R. A., Evard, R., Li, R., Quarells, R. C., Rajagopalan, R., Alvarez, R. L., Blackburn, R., Spillmann, R. C., Ganetzky, R., Overbury, R., Barrick, R., Lewis, R. A., Chang, R., Hamid, R., Mao, R., Marom, R., Corona, R. I., Kumar, R., Butterfield, R., Attaripour, S., Nagamani, S., Shuman, S., Lalani, S. R., Perlman, S., Ketkar, S., Kobren, S. N., Yamamoto, S., Marwaha, S., Chanprasert, S., Nelson, S. F., Zuchner, S., Bivona, S., Ware, S. M., Montgomery, S. B., Pak, S. C., Boyden, S., Bachir, S., Shin, S., Mozaffar, T., Jensen, T. D., Beagle, T., Maurer, T., Washington, T., Serrano, T. J., Coakley, T. R., Cassini, T., Nicholas, T. J., Schedl, T., Truong, T., Vogel, T. P., Jobanputra, V., Maduro, V. V., Shashi, V., Sybert, V., Chung, W., Introne, W., Raskind, W., Thorson, W., Gahl, W. A., Byrd, W. E., Craigen, W. J., Timp, W., Huang, Y., Karasozen, Y., Chang, Y., Jiang, Y., Manabe, Y., Guo, Z. 2026: 102663

  Abstract

  PURPOSE: In recent years, researchers have brought attention to the underrepresentation of people with disabilities in biomedical research, including genomics research. However, little is known about how disability-related experiences influence participation in rare disease research. This omission is striking, because rare diseases are associated with disabling phenotypes that affect multiple body systems. As part of a study interrogating the relationship between rare disease status and disability identity, we conducted mixed-methods research to address this knowledge gap.METHODS: Parents of children enrolled in the UDN (n=25) completed semi-structured interviews to assess disability-related experiences in research participation. Directed content analysis was used to identify common themes.RESULTS: Participants' disability-related research experiences were characterized by: 1) disability-related facilitators to research participation, including benefits of research participation and disability-conscious approaches; 2) disability-related logistical barriers to research participation; and 3) research procedures, and the perception of research as minimally burdensome relative to clinical encounters.CONCLUSION: Parents of children in the UDN make considerable investments of time and resources to accommodate their children's disabilities to facilitate their participation. Future research should explore these issues in other genomic research studies and practical approaches to mitigating barriers and employing facilitators to disability-related research participation.

  View details for DOI 10.1016/j.gim.2026.102663

  View details for PubMedID 42439107

• Ensilication preserves high-molecular weight native DNA for clinical long-read sequencing. Genome biology Ferrasse, A., Mendez, R., Gorzynski, J. E., Reuter, C., Carter, J. N., Blas, M., Bernstein, J. A., Wheeler, M. T., Banal, J. L., Ashley, E. A. 2026; 27 (1)

  Abstract

  Native long-read DNA sequencing simultaneously captures genetic variants and epigenetic modifications from single molecules, but preserving molecular length and base modifications currently depends on cold-chain infrastructure that limits access to well-resourced settings.We demonstrate that ensilication, the encapsulation of DNA within silica matrices, preserves DNA at ambient temperature for 30 days with sequencing performance equivalent to conventional - 80 °C freezing. Across three Genome-in-a-Bottle reference genomes, ensilicated and frozen samples show no significant differences in read length (N50 ~ 8,000-11,000 bp), variant-calling accuracy, or genome-wide CpG methylation. Single-read methylation calls benchmarked against an independent bisulfite-sequencing reference confirm that ensilication introduces no detectable bias, with per-read accuracy differing by less than 0.4% between preservation conditions. Ensilicated DNA tolerates repeated handling better than frozen samples and maintains fragment integrity under accelerated weathering. In two patients with rare genetic disorders, ambient-preserved DNA resolves a de novo variant in the segmentally duplicated GTF2I locus and detects methylation patterns consistent with KDM2A-related disorder.Ensilication enables diagnostic-quality native long-read sequencing without cold-chain infrastructure, supporting ambient storage and transport while preserving both sequence and methylation information.

  View details for DOI 10.1186/s13059-026-04137-4

  View details for PubMedID 42298673

  View details for PubMedCentralID 7006217

• Psychotic Features in Myhre Syndrome: Evidence for Broader Neuropsychiatric Surveillance. American journal of medical genetics. Part C, Seminars in medical genetics Ebuen, M., Krishnan, V., Irby, K., Monsberger, R., Hopkin, R. J., Brand, M. R., Friedman, N., Thom, R. P., Reiss, A. L., Algaze, C., Bernstein, J. A., Alexander, S., Cormier-Daire, V., Lin, A. E., Bachir, S. 2026

  Abstract

  Myhre syndrome is a rare genetic disorder caused by pathogenic variants in SMAD4. The neurocognitive profile may include intellectual disability and developmental delay across a wide spectrum of domains. Four individuals with Myhre syndrome and psychosis and/or schizophrenia have been reported. We discuss three additional individuals (one briefly mentioned in a review of patients with Myhre syndrome) with SMAD4 pathogenic variants at codon Arg496Cys (two cases) and codon Ile500Val (one case). All had social challenges and variable developmental delays. They presented with acute-onset psychosis and were diagnosed with either psychosis, not otherwise specified, or psychosis associated with bipolar disorder. The seven individuals (5 female, 2 male) ranged in age from 13 to 24 years (mean 18.7 years) and had variable responses to pharmacologic and behavioral interventions. The underlying mechanism of psychosis in Myhre syndrome may be due to disruptions in the TGF-β signaling pathway, which involves the interactions of TGF-β family members and SMAD proteins, including SMAD4. Although additional cases are needed to verify our observations, psychosis may be a component of the neurodevelopmental phenotype of Myhre syndrome, highlighting the importance of rapid psychiatric evaluation and intervention.

  View details for DOI 10.1002/ajmg.c.70011

  View details for PubMedID 42267964

• DNASE1L3 Deficiency With Novel Missense Variant: Enzymatic and Plasma Fragmentomic Evidence of Pathogenicity and Partial Response to JAK Blockade ACR OPEN RHEUMATOLOGY Tenorio, A., Sugio, T., Cheng, J., Bonner, D. E., Esfahani, M., Kasinathan, S., Hsu, J. J., Moyer, A., Vera, L., Carter, J., Reuter, C. M., Marwaha, S., Balboni, I., Wheeler, M. T., Bernstein, J. A., Alizadeh, A., Gomez-Ospina, N. 2026; 8 (2)

  View details for DOI 10.1002/acr2.70184

  View details for Web of Science ID 001697626100001

• Biallelic LAMP3 Variants in Five Families with Interstitial Lung Disease: Evidence of a Disease-Gene Association. Genetics in medicine : official journal of the American College of Medical Genetics Keehan, L. A., Ono-Minagi, H., Hadhud, M., Rips, J., Hinds, D. M., Fischer, A. J., Bartlett, J. A., McCray, P. B., Qawasmi, N., Nathan, N., Louvrier, C., Desroziers, T., Damme, M., Griese, M., Wegner, D. J., Cole, F. S., Wambach, J. A., Wheeler, M. T., Burbelo, P. D., Bonner, D. E., Bernstein, J. A., Chiorini, J. A., Breuer, O., Milla, C. 2026: 102531

  Abstract

  Genetic causes of surfactant dysfunction are associated with childhood interstitial lung disease (chILD). Lysosome-associated membrane glycoprotein 3 (LAMP3) is highly expressed within lamellar bodies of alveolar epithelial type II cells, and variants in LAMP3 have recently been suggested as a novel cause of chILD. This study describes the phenotypes of participants with biallelic variants in LAMP3 and presents functional studies evaluating the role of specific LAMP3 variants.Phenotypic data was collected through chart review and clinical evaluation. In vitro effects of LAMP3 variants were evaluated through immunohistochemistry, WB, and flow cytometry.Thirteen participants were identified with biallelic variants in LAMP3. They presented with variable phenotypes ranging from neonatal respiratory distress to asymptomatic in adulthood. All symptomatic participants demonstrated ground glass opacities early in life and lung fibrosis later in life. For one participant, BAL analysis showed abnormal surfactant protein composition and lung biopsy revealed irregular LB. In vitro studies in lung epithelial cells with induced expression of specific LAMP3 variants demonstrated reduced protein expression and abnormal glycosylation.Biallelic LAMP3 variants are associated with an interstitial lung disease phenotype with variable expressivity. Evaluation for LAMP3 variants should be considered in individuals with unexplained interstitial lung disease.

  View details for DOI 10.1016/j.gim.2026.102531

  View details for PubMedID 41653023

• An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser. Genome medicine Cooperstein, I. B., Marwaha, S., Ward, A., Kobren, S. N., Carter, J. N., Wheeler, M. T., Marth, G. T. 2025; 17 (1): 127

  Abstract

  Exome sequencing (ES) and genome sequencing (GS) are increasingly used as standard genetic tests to identify diagnostic variants in rare disease cases. However, prioritizing these variants to reduce the time and burden of manual interpretation by clinical teams remains a significant challenge. The Exomiser/Genomiser software suite is the most widely adopted open-source software for prioritizing coding and noncoding variants. Despite its ubiquitous use, limited data-driven guidelines currently exist to optimize its performance for diagnostic variant prioritization. Based on detailed analyses of Undiagnosed Diseases Network (UDN) probands, this study presents optimized parameters and practical recommendations for deploying the Exomiser and Genomiser tools. We also highlight scenarios where diagnostic variants may be missed and propose alternative workflows to improve diagnostic success in such complex cases.We analyzed 386 diagnosed probands from the UDN, including cases with coding and noncoding diagnostic variants. We systematically evaluated how tool performance was affected by key parameters, including gene:phenotype association data, variant pathogenicity predictors, phenotype term quality and quantity, and the inclusion and accuracy of family variant data.Parameter optimization significantly improved Exomiser's performance over default parameters. For GS data, the percentage of coding diagnostic variants ranked within the top 10 candidates increased from 49.7% to 85.5%, and for ES, from 67.3% to 88.2%. For noncoding variants prioritized with Genomiser, the top 10 rankings improved from 15.0% to 40.0%. We also explored refinement strategies for Exomiser outputs, including using p-value thresholds and flagging genes that are frequently ranked in the top 30 candidates but rarely associated with diagnoses.This study provides an evidence-based framework for variant prioritization in ES and GS data using Exomiser and Genomiser. These recommendations have been implemented in the Mosaic platform to support the ongoing analysis of undiagnosed UDN participants and provide efficient, scalable reanalysis to improve diagnostic yield. Our work also highlights the importance of tracking solved cases and diagnostic variants that can be used to benchmark bioinformatics tools. Exomiser and Genomiser are available at https://github.com/exomiser/Exomiser/ .

  View details for DOI 10.1186/s13073-025-01546-1

  View details for PubMedID 41121346

  View details for PubMedCentralID PMC12539062

• RAPSN-Associated Congenital Myasthenic Syndrome due to Biallelic Single Nucleotide Variants at the Same Position. Case reports in genetics Keehan, L., Carter, J. N., Kravets, E., Wheeler, M. T., Bernstein, J. A., Maselli, R. A., Sampson, J. B., Bachir, S. 2025; 2025: 1882021

  Abstract

  Biallelic pathogenic variants in RAPSN cause a form of congenital myasthenic syndrome (CMS), which is typically characterized by fatiguable muscle weakness, hypotonia, and feeding difficulties that present in the neonatal period or early childhood. RAPSN-associated CMS can be treated with acetylcholinesterase inhibitors. Here, we present a 4-year-old male with a history of neonatal respiratory distress, hypotonia, and muscle weakness exacerbated by illness who underwent trio genome sequencing and was found to have biallelic single nucleotide variants at the same position in RAPSN, encoding NM_005055.5:c.264C > A p.(N88K) and NM_005055.5:c.264C > G p.(N88K). The paternally inherited c.264C > G variant has not been previously reported. Interestingly, only the maternally inherited c.264C > A variant was reported on the patient's prior clinical exome sequencing, which delayed diagnosis and initiation of treatment for this patient. This case highlights the complexity of identifying multiallelic variants during exome and genome sequencing analysis. Additionally, this case is the first report of facial malformations in a patient with RAPSN-associated CMS due to variants outside of the promoter region. Trial Registration: ClinicalTrials.gov identifier: NCT02450851.

  View details for DOI 10.1155/crig/1882021

  View details for PubMedID 41158980

  View details for PubMedCentralID PMC12558694

• Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations NATURE COMMUNICATIONS Kobren, S., Moldovan, M. A., Reimers, R., Traviglia, D., Li, X., Barnum, D., Veit, A., Corona, R. I., Neto, G., Willett, J., Berselli, M., Ronchetti, W., Nelson, S. F., Martinez-Agosto, J. A., Sherwood, R., Krier, J., Kohane, I. S., Sunyaev, S. R., Undiagnosed Dis Network 2025; 16 (1): 7267

  Abstract

  Genomics for rare disease diagnosis has advanced at a rapid pace due to our ability to perform in-depth analyses on individual patients with ultra-rare diseases. The increasing sizes of ultra-rare disease cohorts internationally newly enables cohort-wide analyses for new discoveries, but well-calibrated statistical genetics approaches for jointly analyzing these patients are still under development. The Undiagnosed Diseases Network (UDN) brings multiple clinical, research and experimental centers under the same umbrella across the United States to facilitate and scale case-based diagnostic analyses. Here, we present the first joint analysis of whole genome sequencing data of UDN patients across the network. We introduce new, well-calibrated statistical methods for prioritizing disease genes with de novo recurrence and compound heterozygosity. We also detect pathways enriched with candidate and known diagnostic genes. Our computational analysis, coupled with a systematic clinical review, recapitulated known diagnoses and revealed new disease associations. We further release a software package, RaMeDiES, enabling automated cross-analysis of deidentified sequenced cohorts for new diagnostic and research discoveries. Gene-level findings and variant-level information across the cohort are available in a public-facing browser ( https://dbmi-bgm.github.io/udn-browser/ ). These results show that case-level diagnostic efforts should be supplemented by a joint genomic analysis across cohorts.

  View details for DOI 10.1038/s41467-025-61712-2

  View details for Web of Science ID 001545761000002

  View details for PubMedID 40770127

  View details for PubMedCentralID PMC12328722

• Fetal phenotype and diagnosis of autosomal dominant Robinow syndrome due to novel DVL1 variant. Prenatal diagnosis Smith, C. M., Guinon, K., Bachir, S., Tise, C. G. 2024

  Abstract

  Due to abnormal prenatal ultrasound findings of femoral shortening and flattened facial profile, a G2P0 pregnant patient underwent an amniocentesis at 15 weeks of gestation for proband-only exome sequencing. Bioinformatic filtering for genes included on the laboratory's extended skeletal dysplasia panel identified a heterozygous, likely pathogenic, frameshift variant in DVL1 NM_001330311.2:c.1575_1582dup; (p.Pro528ArgfsTer149). Pathogenic variants in DVL1 are associated with autosomal dominant Robinow syndrome (ADRS), a genetic disorder characterized by skeletal dysplasia with genital and craniofacial abnormalities. Prenatal ultrasound in the third trimester noted shortened long bones (first percentile for gestational age), macrocephaly with frontal bossing, short and upturned nose with a wide nasal root, triangular mouth, low pedal arches concerning for rocker-bottom feet, and ambiguous genitalia. A postnatal exam by Medical Genetics confirmed the prenatal findings in addition to hypertelorism, brachydactyly with broad thumbs and halluces, clinodactyly of second fingers, rigid gums with a frontal frenulum, and a sacral dimple. This case describes a novel variant in DVL1 identified in a fetus with prenatal and postnatal phenotypic features consistent with ADRS. To our knowledge, this is the first reported case of a prenatal molecular diagnosis of the dominant form of Robinow syndrome and the third case to describe prenatal ultrasound findings associated with this diagnosis.

  View details for DOI 10.1002/pd.6632

  View details for PubMedID 38982229

• Neurofibromatosis Type 2 (NF2) and the Implications for Vestibular Schwannoma and Meningioma Pathogenesis INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES Bachir, S., Shah, S., Shapiro, S., Koehler, A., Mahammedi, A., Samy, R. N., Zuccarello, M., Schorry, E., Sengupta, S. 2021; 22 (2)

  Abstract

  Patients diagnosed with neurofibromatosis type 2 (NF2) are extremely likely to develop meningiomas, in addition to vestibular schwannomas. Meningiomas are a common primary brain tumor; many NF2 patients suffer from multiple meningiomas. In NF2, patients have mutations in the NF2 gene, specifically with loss of function in a tumor-suppressor protein that has a number of synonymous names, including: Merlin, Neurofibromin 2, and schwannomin. Merlin is a 70 kDa protein that has 10 different isoforms. The Hippo Tumor Suppressor pathway is regulated upstream by Merlin. This pathway is critical in regulating cell proliferation and apoptosis, characteristics that are important for tumor progression. Mutations of the NF2 gene are strongly associated with NF2 diagnosis, leading to benign proliferative conditions such as vestibular schwannomas and meningiomas. Unfortunately, even though these tumors are benign, they are associated with significant morbidity and the potential for early mortality. In this review, we aim to encompass meningiomas and vestibular schwannomas as they pertain to NF2 by assessing molecular genetics, common tumor types, and tumor pathogenesis.

  View details for DOI 10.3390/ijms22020690

  View details for Web of Science ID 000611334800001

  View details for PubMedID 33445724

  View details for PubMedCentralID PMC7828193

• Imaging of Neurologic Disease in Hospitalized Patients with COVID-19: An Italian Multicenter Retrospective Observational Study RADIOLOGY Mahammedi, A., Saba, L., Vagal, A., Leali, M., Rossi, A., Gaskill, M., Sengupta, S., Zhang, B., Carriero, A., Bachir, S., Crivelli, P., Pasche, A., Premi, E., Padovani, A., Gasparotti, R. 2020; 297 (2): E270-E273

  View details for DOI 10.1148/radiol.2020201933

  View details for Web of Science ID 000581882100004

  View details for PubMedID 32437313

  View details for PubMedCentralID PMC7587295