Dr. Irman Forghani is the Director of Genetics at Mount Sinai Medical Center. Dr. Forghani is board-certified by the American College of Medical Genetics and the American Board of Internal Medicine.

Dr. Forghani earned her medical degree from Isfahan University of Medical Sciences in Iran, where she received the Medical Student Education Leader Award for her innovative curricular design. She completed her residency training in internal medicine at the University of Oklahoma in Tulsa, OK. Following her residency, she completed her fellowship training in medical genetics at the University of California Medical Center in Los Angeles, CA.

Prior to her position as the Director of Clinical Genetics at Mount Sinai Medical Center, she was an Associate Professor of Human Genetics at the University of Miami Miller School of Medicine in Miami, FL, where she served as the Founder and Director of the Hereditary Connective Tissue Disorder Clinic. She also served as Director of the Cancer Predisposition Syndrome, Von Hippel Lindau Care Clinic for seven years. Her practice focuses on adult inherited and complex disorders, with a special interest in hereditary connective tissue disorders, vascular malformations, and hereditary cancer syndromes.

She has authored and co-authored multiple scientific articles and abstracts in reputable peer-reviewed medical journals. She was a co-investigator in the Undiagnosed Diseases Network (UDN) research study, funded by the National Institutes of Health, and served as a member of the NORD Rare Disease Center of Excellence at the University of Miami.

She is currently a member of the American Medical Association, the American College of Medical Genetics and Genomics, the American Board of Internal Medicine, the Ehlers-Danlos Society International Consortium Peer Review Panel, and the Editorial Board of the European Journal of Gynecological Oncology. In addition to being a clinician and a researcher, Dr. Forghani teaches fellows, residents, and medical students. She has mentored many medical students and residents in different research projects and has been very active in community events and fundraisers to raise awareness about inherited complex adult disorders.

Dr. Forghani is fluent in English and Farsi (Persian).

Areas of Clinical Interest:

Hereditary connective tissue disorders (Ehlers-Danlos syndromes; Marfan syndrome; Loeys Dietz syndrome; Aortic dilatation and dissection; Osteogenesis imperfecta) Hereditary cancer syndrome (cancer predisposition syndromes); Adult complex disorders; undiagnosed disorders; Cardiogenetic Genodermatosis

*This physician is employed by Mount Sinai Medical Center

Pietri-Toro JM, Gardner OK, Leuchter JD, DiBartolomeo G, Hunter JA, Forghani I. Prevalence of cardiovascular manifestations in patients with hypermobile Ehlers-Danlos syndrome at the University of Miami. Am J Med Genet A. 2023 Mar 3. doi: 10.1002/ajmg.a.63168. Epub ahead of print. PMID: 36866504.

Shashi V, Schoch K, Ganetzky R, Kranz PG, Sondheimer N, Markert ML, Cope H, Sadeghpour A, Roehrs P, Arbogast T, Muraresku C; Undiagnosed Diseases Network (Forghani I, as member of Undiagnosed Disease Network);; Tyndall AV, Esser MJ, Woodward KE, Ping-Yee Au B, Parboosingh JS, Lamont RE, Bernier FP, Wright NAM, Benseler SM, Parsons SJ, El-Dairi M, Smith EC, Valdez P, Tennison M, Innes AM, Davis EE. Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy. Genet Med. 2023 May 13;25(9):100897. doi: 10.1016/j.gim.2023.100897. Epub ahead of print. PMID: 37191094.

Andrews JC, Mok JW, Kanca O, Jangam S, Tifft C, Macnamara EF, Russell BE, Wang LK; Undiagnosed Diseases Network (Forghani I, as member of Undiagnosed Disease Network); Nelson SF, Bellen HJ, Yamamoto S, Malicdan MCV, Wangler MF. De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features. Genet Med. 2023 Jun;25(6):100833. doi:10.1016/j.gim.2023.100833. Epub 2023 Mar 31. PMID: 37013900.

Pujol-Giménez J, Mirzaa G, Blue EE, Albano G, Miller DE, Allworth A, Bennett JT, Byers PH, Chanprasert S, Chen J, Doherty D, Folta AB, Gillentine MA, Glass I, Hing A, Horike-Pyne M, Leppig KA, Parhin A, Ranchalis J, Raskind WH, Rosenthal EA, Schwarze U, Sheppeard S, Strohbehn S, Sybert VP, Timms A, Wener M; University of Washington Center for Mendelian Genomics (UW-CMG)a, Undiagnosed Diseases Network (UDN) (Forghani I, as member of Undiagnosed Disease Network); Bamshad MJ, Hisama FM, Jarvik GP, Dipple KM, Hediger MA, Stergachis AB. Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome. Ann Clin Transl Neurol. 2023 May 16. doi: 10.1002/acn3.51786. Epub ahead of print. PMID: 37194416.

Tepe B, Macke EL, Niceta M, Weisz Hubshman M, Kanca O, Schultz-Rogers L, Zarate YA, Schaefer GB, Granadillo De Luque JL, Wegner DJ, Cogne B, Gilbert-Dussardier B, Le Guillou X, Wagner EJ, Pais LS, Neil JE, Mochida GH, Walsh CA, Magal N, Drasinover V, Shohat M, Schwab T, Schmitz C, Clark K, Fine A, Lanpher B, Gavrilova R, Blanc P, Burglen L, Afenjar A, Steel D, Kurian MA, Prabhakar P, Gößwein S, Di Donato N, Bertini ES; Undiagnosed Diseases Network(Forghani I, as member of Undiagnosed Disease Network); Wangler MF, Yamamoto S, Tartaglia M, Klee EW, Bellen HJ. Bi-allelic variants in INTS11 are associated with a complex neurological disorder. Am J Hum Genet. 2023 May 4;110(5):774-789. doi: 10.1016/j.ajhg.2023.03.012. Epub 2023 Apr 12. PMID: 37054711; PMCID: PMC10183469.

Rosenfeld LE, LeBlanc K, Nagy A, Ego BK; Undiagnosed Diseases Network (Forghani I, as member of Undiagnosed Disease Network); McCray AT. Participation in a national diagnostic research study: assessing the patient experience. Orphanet J Rare Dis. 2023 Apr 10;18(1):73. doi: 10.1186/s13023-023-02695-5. PMID: 37032333; PMCID: PMC10084693.

Miller IM, Yashar BM; Undiagnosed Disease Network (Forghani I, as member of Undiagnosed Disease Network); Macnamara EF. Continuing a search for a diagnosis: the impact of adolescence and family dynamics. Orphanet J Rare Dis. 2023 Jan 9;18(1):6. doi: 10.1186/s13023-022-02598-x. PMID: 36624503; PMCID: PMC9830697.

Srivastava S, Shaked HM, Gable K, Gupta SD, Pan X, Somashekarappa N, Han G, Mohassel P, Gotkine M, Doney E, Goldenberg P, Tan QKG, Gong Y, Kleinstiver B, Wishart B, Cope H, Pires CB, Stutzman H, Spillmann RC; Undiagnosed Disease Network (Forghani I, as member of Undiagnosed Disease Network); Sadjadi R, Elpeleg O, Lee CH, Bellen HJ, Edvardson S, Eichler F, Dunn TM. SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia. Brain. 2023 Jan 30:awac460. doi: 10.1093/brain/awac460. Epub ahead of print. PMID: 36718090.

Halley MC, Young JL, Tang C, Mintz KT, Lucas-Griffin S, Maghiro AS, Ashley EA, Tabor HK; Undiagnosed Diseases Network (Forghani I, as member of Undiagnosed Disease Network);. Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care. J Pediatr. 2023 Jun 2:113537. doi: 10.1016/j.jpeds.2023.113537. Epub ahead of print. PMID: 37271495.

McConkie-Rosell A, Spillmann RC, Schoch K, Sullivan JA, Walley N, McDonald M; (Forghani I, as member of Undiagnosed Disease Network); Hooper SR, Shashi V. Unraveling nonparticipation in genomic research: A complex interplay of barriers, facilitators, and sociocultural factors. J Genet Couns. 2023 Apr 2. doi: 10.1002/jgc4.1707. Epub ahead of print. PMID: 37005744.

Morimoto M, Bhambhani V, Gazzaz N, Davids M, Sathiyaseelan P, Macnamara EF, Lange J, Lehman A, Zerfas PM, Murphy JL, Acosta MT, Wang C, Alderman E; Undiagnosed Diseases Network (Forghani I, as member of Undiagnosed Disease Network); Reichert S, Thurm A, Adams DR, Introne WJ, Gorski SM, Boerkoel CF, Gahl WA, Tifft CJ, Malicdan MCV. Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment. NPJ Genom Med. 2023 Feb 10;8(1):4. doi: 10.1038/s41525-022-00343-8. PMID: 36765070; PMCID: PMC9918471.

Borja N, Borjas-Mendoza P, Bivona S, Peart L, Gonzalez J, Johnson BK, Guo S, Yusupov R; (Forghani I, as member of Undiagnosed Disease Network); Bademci G, Tekin M. H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndrome. Am J Med Genet A. 2023 Mar 29. doi: 10.1002/ajmg.a.63193. Epub ahead of print. PMID: 36987712.

Volmrich AM, Cuénant LM, Forghani I, Hsieh SL, Shapiro LT. ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy. Appl Clin Genet. 2022;15:111-123.Bainbridge MN, Mazumder A, Ogasawara D, Abou Jamra R, Bernard G, Bertini E, Burglen L, Cope H, Crawford A, Derksen A, Dure L, Gantz E, Koch-Hogrebe M, Hurst ACE, Mahida S, Marshall P, Micalizzi A, Novelli A, Peng H; Rady Children’s Institute for Genomic Medicine, Rodriguez D, Robbins SL, Rutledge SL, Scalise R, Schließke S, Shashi V, Srivastava S, Thiffault I, Topol S; (Forghani I, as member of Undiagnosed Disease Network), Qebibo L, Wieczorek D, Cravatt B, Haricharan S, Torkamani A, Friedman J. Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome. Brain. 2022 Oct 21;145(10):3383-3390. doi: 10.1093/brain/awac223. PMID: 35737950; PMCID: PMC9586540.

Clarke, J. E., Magoon, S., Forghani, I., Alessandrino, F., D’Amato, G., Jonczak, E., & Subhawong, T. K. (2022). Radiologic screening and surveillance in hereditary cancers. European Journal of Radiology Open, 9, 100422.

Kozycki CT, Kodati S, Huryn L, Wang H, Warner BM, Jani P, Hammoud D, Abu-Asab MS, Jittayasothorn Y, Mattapallil MJ, Tsai WL, Ullah E, Zhou P, Tian X, Soldatos A, Moutsopoulos N, Kao-Hsieh M, Heller T, Cowen EW, Lee CR, Toro C, Kalsi S, Khavandgar Z, Baer A, Beach M, Long Priel D, Nehrebecky M, Rosenzweig S, Romeo T, Deuitch N, Brenchley L, Pelayo E, Zein W, Sen N, Yang AH, Farley G, Sweetser DA, Briere L, Yang J, de Oliveira Poswar F, Schwartz I, Silva Alves T, Dusser P, Koné-Paut I, Touitou I, Titah SM, van Hagen PM, van Wijck RTA, van der Spek PJ, Yano H, Benneche A, Apalset EM, Jansson RW, Caspi RR, Kuhns DB, Gadina M, Takada H, Ida H, Nishikomori R, Verrecchia E, Sangiorgi E, Manna R, Brooks BP, Sobrin L, Hufnagel R, Beck D, Shao F, Ombrello AK, Aksentijevich I, Kastner DL; ; (Forghani I, as member of Undiagnosed Disease Network). Gain-of-function mutations in ALPK1 cause an NF-κBmediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome. Ann Rheum Dis. 2022 Jul 22:annrheumdis-2022-222629. doi: 10.1136/annrheumdis-2022-222629. Epub ahead of print. PMID: 35868845.

Shankar SP, Grimsrud K, Lanoue L, Egense A, Willis B, Hörberg J, AlAbdi L, Mayer K, Ütkür K, Monaghan KG, Krier J, Stoler J, Alnemer M, Shankar PR, Schaffrath R, Alkuraya FS, Brinkmann U, Eriksson LA, Lloyd K, Rauen KA; (Forghani I, as member of Undiagnosed Disease Network). A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder. Genet Med. 2022 Apr 27:S1098-3600(22)00704-3. doi: 10.1016/j.gim.2022.03.014. Epub ahead of print. PMID: 35482014.

Lang SH, Gallo RA, Forghani, I., A novel pathogenic variant at the C-terminal propeptide cleavage site of COL1A1, causing osteogenesis imperfecta with intrafamilial variability. Am J Med Genet A. 2022 Mar 3. doi: 10.1002/ajmg.a.62712. Epub ahead of print. PMID: 35243755.McConkie-Rosell A, Schoch K, Sullivan J, Spillmann RC, Cope H, Tan QK, Palmer CGS;), Hooper SR, Shashi V; (Forghani I, as member of Undiagnosed Disease Network). Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples. J Genet Couns. 2022 Feb;31(1):59-70. doi: 10.1002/jgc4.1451. Epub 2021 Jun 11. PMID: 34115423; PMCID: PMC8664895.

Borja N, Bivona S, Peart LS, Johnson B, Gonzalez J, Barbouth D, Moore H, Guo S; (Forghani I,as member of Undiagnosed Disease Network), Bademci G, Tekin M. Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease. Mol Genet Genomic Med. 2022 Mar 5:e1892. doi: 10.1002/mgg3.1892. Epub ahead of print. PMID: 35247231.

Ferdinandusse S, McWalter K, Te Brinke H, IJlst L, Mooijer PM, Ruiter JPN, van Lint AEM, PrasRaves M, Wever E, Millan F, Guillen Sacoto MJ, Begtrup A, Tarnopolsky M, Brady L, Ladda RL, Sell SL, Nowak CB, Douglas J, Tian C, Ulm E, Perlman S, Drack AV, Chong K, Martin N, Brault J, Brokamp E, Toro C, Gahl WA, Macnamara EF, Wolfe L; Undiagnosed Diseases Network(Forghani I, as member of Undiagnosed Disease Network), Waisfisz Q, Zwijnenburg PJG, Ziegler A, Barth M, Smith R, Ellingwood S, Gaebler-Spira D, Bakhtiari S, Kruer MC, van Kampen AHC, Wanders RJA, Waterham HR, Cassiman D, Vaz FM. An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids. Genet Med. 2021 Apr;23(4):740-750. doi: 10.1038/s41436-020-01027-3. Epub 2020 Nov 26. Erratum in: Genet Med. 2021 Oct 19;: PMID: 33239752; PMCID: PMC8026396.

Schoch K, Esteves C, Bican A, Spillmann R, Cope H, McConkie-Rosell A, Walley N, Fernandez L, Kohler JN, Bonner D, Reuter C, Stong N, Mulvihill JJ, Novacic D, Wolfe L, Abdelbaki A, Toro C, Tifft C, Malicdan M, Gahl W, Liu P, Newman J, Goldstein DB, Hom J, Sampson J, Wheeler MT; Undiagnosed Diseases Network (Forghani I, as member of Undiagnosed Disease Network), Cogan J, Bernstein JA, Adams DR, McCray AT, Shashi V. Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science. Genet Med. 2021 Feb;23(2):259-271. doi: 10.1038/s41436-020-00984-z. Epub 2020 Oct 23. PMID: 33093671; PMCID: PMC7867619.

Selvam P, Jain A, Cheema A, Atwal H, Forghani I, Atwal PS. Poirier-Bienvenu neurodevelopmental syndrome: A report of a patient with a pathogenic variant in CSNK2B with abnormal linear growth. Am J Med Genet A. 2021 Feb;185(2):539-543. doi:10.1002/ajmg.a.61960. Epub 2021 Nov 9. PMID: 33166063.

Brokamp E, Koziura ME, Phillips JA 3rd, Tang LA, Cogan JD, Rives LC, Robertson AK, Duncan L, Bican A, Peterson JF, Newman JH, Hamid R, Bastarache L; Undiagnosed Diseases Network(Forghani I, as member of Undiagnosed Disease Network), Wheeler. One is the loneliest number: genotypic matchmaking using the electronic health record. Genet Med. 2021 Oct;23(10):1830-1832. doi: 10.1038/s41436-021-01179-w. Epub 2021 Jul 6. PMID: 34230636.

Kohler JN, Kelley EG, Boyd BM, Sillari CH, Marwaha S; Undiagnosed Diseases Network(Forghani I, as member of Undiagnosed Disease Network), Wheeler MT. Genetic counselor roles in the undiagnosed diseases network research study: Clinical care, collaboration, and curation. J Genet Couns. 2021 Aug 10. doi: 10.1002/jgc4.1493. Epub ahead of print. PMID: 34374469.

Rodan LH, Spillmann RC, Kurata HT, Lamothe SM, Maghera J, Jamra RA, Alkelai A, Antonarakis SE, Atallah I, Bar-Yosef O, Bilan F, Bjorgo K, Blanc X, Van Bogaert P, Bolkier Y, Burrage LC, Christ BU, Granadillo JL, Dickson P, Donald KA, Dubourg C, Eliyahu A, Emrick L, Engleman K, Gonfiantini MV, Good JM, Kalser J, Kloeckner C, Lachmeijer G, Macchiaiolo M, Nicita F, Odent S, O’Heir E, Ortiz-Gonzalez X, Pacio-Miguez M, Palomares-Bralo M, Pena L, Platzer K, Quinodoz M, Ranza E, Rosenfeld JA, Roulet-Perez E, Santani A, Santos-Simarro F, Pode-Shakked B, Skraban C, Slaugh R, Superti-Furga A, Thiffault I, van Jaabrsveld RH, Vincent M, Wang HG, Zacher P; Undiagnosed Diseases Network (Forghani I, as member of Undiagnosed Disease Network), Rush E, Pitt G, Au PYB, Shashi V. Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations. Genet Med. 2021 Jun 23. doi: 10.1038/s41436-021-01232-8. Epub ahead of print. PMID: 34163037.

Leuchter JD, Patel PM, Fourzali KM, Donenberg TR, Silva-Smith R, Vassallo NC, Blanton SH, Parekh DJ, Forghani I. Application of the ACMG/NSGC genetic referral guidelines for hereditary renal cell carcinoma at the University of Miami, from 2014 to 2017. Am J Med Genet A. 2021 Jun 21. doi: 10.1002/ajmg.a.62402. Epub ahead of print. PMID: 34152076.

McConkie-Rosell A, Schoch K, Sullivan J, Spillmann RC, Cope H, Tan QK, Palmer CGS; Undiagnosed Disease Network (Forghani I, as member of Undiagnosed Disease Network), Hooper SR, Shashi V. Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples. J Genet Couns. 2021 Jun 11. doi: 10.1002/jgc4.1451. Epub ahead of print. PMID: 34115423.

Briere LC, Walker MA, High FA, Cooper C, Rogers CA, Callahan CJ, Ishimura R, Ichimura Y, Caruso PA, Sharma N, Brokamp E, Koziura ME, Mohammad SS, Dale RC, Riley LG; Undiagnosed Diseases Network (Forghani I, as member of Undiagnosed Disease Network), Phillips JA, Komatsu M, Sweetser DA. A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathy. Cold Spring Harb Mol Case Stud. 2021 Jun 11;7(3):a005827. doi: 10.1101/mcs.a005827. PMID: 33811063.

Ravenscroft TA, Phillips JB, Fieg E, Bajikar SS, Peirce J, Wegner J, Luna AA, Fox EJ, Yan YL, Rosenfeld JA, Zirin J, Kanca O; Undiagnosed Diseases Network (Forghani I, as member of Undiagnosed Disease Network), Benke PJ, Cameron ES, Strehlow V, Platzer K, Jamra RA, Klöckner C, Osmond M, Licata T, Rojas S, Dyment D, Chong JSC, Lincoln S, Stoler JM, Postlethwait JH, Wangler MF, Yamamoto S, Krier J, Westerfield M, Bellen HJ. Heterozygous lossof-function variants significantly expand the phenotypes associated with loss of GDF11. Genet Med. 2021 Jun 10. doi: 10.1038/s41436-021-01216-8. Epub ahead of print. PMID: 34113007.

Sturrock BRH, Macnamara EF, McGuire P, Kruk S, Yang I, Murphy J; Undiagnosed Diseases Network (Forghani I, as member of Undiagnosed Disease Network), Tifft CJ, Gordon-Lipkin E. Progressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum. Mol Genet Genomic Med. 2021 Jun;9(6):e1692. doi: 10.1002/mgg3.1692. Epub 2021 May 7. PMID: 33960148. Baldridge D, Wangler MF, Bowman AN, Yamamoto S; Undiagnosed Diseases Network (Forghani I, as member of Undiagnosed Disease Network), Schedl T, Pak SC, Postlethwait JH, Shin J, Solnica-Krezel L, Bellen HJ, Westerfield M. Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision. Orphanet J Rare Dis. 2021 May 7;16(1):206. doi: 10.1186/s13023-021-01839-9. PMID: 33962631; PMCID: PMC8103593.

Cope H, Barseghyan H, Bhattacharya S, Fu Y, Hoppman N, Marcou C, Walley N, Rehder C, DeakK, Alkelai A; Undiagnosed Diseases Network (Forghani I, as member of Undiagnosed Disease Network), Vilain E, Shashi V. Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey. Mol Genet Genomic Med. 2021 May 6:e1665. doi: 10.1002/mgg3.1665. Epub ahead of print. PMID: 33955715.

Marbach F, Stoyanov G, Erger F, Stratakis CA, Settas N, London E, Rosenfeld JA, Torti E, Haldeman-Englert C, Sklirou E, Kessler E, Ceulemans S, Nelson SF, Martinez-Agosto JA, Palmer CGS, Signer RH; Undiagnosed Diseases Network (Forghani I, as member of Undiagnosed Disease Network), Andrews MV, Grange DK, Willaert R, Person R, Telegrafi A, Sievers A, Laugsch M, Theiß S, Cheng Y, Lichtarge O, Katsonis P, Stocco A, Schaaf CP. Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain. Genet Med. 2021 Apr 8. doi: 10.1038/s41436-021-01152-7. Epub ahead of print. PMID: 33833410.

Kobren SN, Baldridge D, Velinder M, Krier JB, LeBlanc K, Esteves C, Pusey BN, Züchner S, Blue E, Lee H, Huang A, Bastarache L, Bican A, Cogan J, Marwaha S, Alkelai A, Murdock DR, Liu P, Wegner DJ, Paul AJ; Undiagnosed Diseases Network, Sunyaev SR, Kohane IS. (Forghani I, as member of Undiagnosed Disease Network); Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases. Genet Med. 2021 Feb 12. doi:10.1038/s41436-020-01084-8. Epub ahead of print. PMID: 33580225.

Bartlett M, Nasiri N, Pressman R, Bademci G, Forghani I, First reported adult patient with retinal dystrophy and leukodystrophy caused by a novel ACBD5 variant: A case report and review of literature. Am J Med Genet A. 2021 Jan 11. doi: 10.1002/ajmg.a.62073. Epub ahead of print. PMID: 33427402.

Ferdinandusse S, McWalter K, Te Brinke H, IJlst L, Mooijer PM, Ruiter JPN, van Lint AEM, PrasRaves M, Wever E, Millan F, Guillen Sacoto MJ, Begtrup A, Tarnopolsky M, Brady L, Ladda RL, Sell SL, Nowak CB, Douglas J, Tian C, Ulm E, Perlman S, Drack AV, Chong K, Martin N, Brault J, Brokamp E, Toro C, Gahl WA, Macnamara EF, Wolfe L; Undiagnosed Diseases Network (Forghani I, as member of Undiagnosed Disease Network), Waisfisz Q, Zwijnenburg PJG, Ziegler A, Barth M, Smith R, Ellingwood S, Gaebler-Spira D, Bakhtiari S, Kruer MC, van Kampen AHC, Wanders RJA, Waterham HR, Cassiman D, Vaz FM, An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids. Genet Med.2020 Nov 26. doi: 10.1038/s41436-020-01027-3. Epub ahead of print. PMID: 33239752.

Meissner LE, Macnamara EF, D’Souza P, Yang J, Vezina G; Undiagnosed Diseases Network, Ferreira CR, Zein WM, Tifft CJ, Adams DR. (Forghani I, as member of Undiagnosed Disease Network). DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature. Mol Genet Genomic Med. 2020 Nov 7:e1544. doi: 10.1002/mgg3.1544. Epub ahead of print. PMID: 33159716.

Studwell CM, Kelley EG; Undiagnosed Diseases Network, Sinsheimer JS, Palmer CGS, LeBlanc K. (Forghani I, as member of Undiagnosed Disease Network). Family genetic result communication in rare and undiagnosed disease communities: Understanding the practice. J Genet Couns. 2020 Oct 27. doi: 10.1002/jgc4.1329. Epub ahead of print. PMID: 33108040. Schoch K, Esteves C, Bican A, Spillmann R, Cope H, McConkie-Rosell A, Walley N, Fernandez L, Kohler JN, Bonner D, Reuter C, Stong N, Mulvihill JJ, Novacic D, Wolfe L, Abdelbaki A, Toro C, Tifft C, Malicdan M, Gahl W, Liu P, Newman J, Goldstein DB, Hom J, Sampson J, Wheeler MT; Undiagnosed Diseases Network, Cogan J, Bernstein JA, Adams DR, McCray AT, Shashi V. (Forghani I, as member of Undiagnosed Disease Network). Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science. Genet Med. 2020 Oct 23. doi: 10.1038/s41436-020-00984-z. Epub ahead of print. PMID: 33093671.

Armitage AM, Kundra MA, Ghiam N, Atwal PS, Morel D, Hruska KS, Torene R, Harbour JW, Forghani I, Chimerism involving a RB1 pathogenic variant in monochorionic dizygotic twins with twin-twin transfusion syndrome. Am J Med Genet A. 2020 Oct 9. doi: 10.1002/ajmg.a.61913. Epub ahead of print. PMID: 33037780.

Schneeberger PE, Kortüm F, Korenke GC, Alawi M, Santer R, Woidy M, Buhas D, Fox S, Juusola J, Alfadhel M, Webb BD, Coci EG, Abou Jamra R, Siekmeyer M, Biskup S, Heller C, Maier EM, Javaher-Haghighi P, Bedeschi MF, Ajmone PF, Iascone M, Peeters H, Ballon K, Jaeken J, Rodríguez Alonso A, Palomares-Bralo M, Santos-Simarro F, Meuwissen MEC, Beysen D, Kooy RF, Houlden H, Murphy D, Doosti M, Karimiani EG, Mojarrad M, Maroofian R, Noskova L, Kmoch S, Honzik T, Cope H, Sanchez-Valle A; Undiagnosed Diseases Network, Gelb BD, Kurth I, Hempel M, Kutsche K. (Forghani I, as member of Undiagnosed Disease Network). Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder. Brain; 2020 Aug 1;143(8):2437-2453. doi: 10.1093/brain/awaa204. PMID: 32761064; PMCID: PMC7447524.

Gonzalez-Mancera MS, Forghani I, Mirsaeidi M. Missense (p.Glu778Lys) and (p.Gly908Arg) variants of NOD2 gene are associated with recurrent pulmonary nontuberculous mycobacterial infections [published online ahead of print, 2020 Jul 12]. Scand J Immunol. 2020;e12935. doi:10.1111/sji.12935

Mao D, Reuter CM, Ruzhnikov MRZ, Beck AE, Farrow EG, Emrick LT, Rosenfeld JA, Mackenzie KM, Robak L, Wheeler MT, Burrage LC, Jain M, Liu P, Calame D, Küry S, Sillesen M, SchmitzAbe K, Tonduti D, Spaccini L, Iascone M, Genetti CA, Koenig MK, Graf M, Tran A, Alejandro M; Undiagnosed Diseases Network, Lee BH, Thiffault I, Agrawal PB, Bernstein JA, Bellen HJ, Chao HT. (Forghani I, as member of Undiagnosed Disease Network). De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation. Am J Hum Genet. 2020 Apr 2;106(4):570-583. doi: 10.1016/j.ajhg.2020.02.016. Epub 2020 Mar 19. PMID: 32197074; PMCID: PMC7118694.

Holt JM, Wilk B, Birch CL, Brown DM, Gajapathy M, Moss AC, Sosonkina N, Wilk MA, Anderson JA, Harris JM, Kelly JM, Shaterferdosian F, Uno-Antonison AE, Weborg A; Undiagnosed Diseases Network, Worthey EA. (Forghani I, as member of Undiagnosed Disease Network). VarSight: prioritizing clinically reported variants with binary classification algorithms. BMC Bioinformatics. 2019 Oct 15;20(1):496. doi: 10.1186/s12859-019-3026-8. PMID: 31615419; PMCID: PMC6792253. Accogli A, Calabretta S, St-Onge J, Boudrahem-Addour N, Dionne-Laporte A, Joset P, AzzarelloBurri S, Rauch A, Krier J, Fieg E, Pallais JC; Undiagnosed Diseases Network, McConkieRosell A, McDonald M, Freedman SF, Rivière JB, Lafond-Lapalme J, Simpson BN, Hopkin RJ, Trimouille A, Van-Gils J, Begtrup A, McWalter K, Delphine H, Keren B, Genevieve D, Argilli E, Sherr EH, Severino M, Rouleau GA, Yam PT, Charron F, Srour M. (Forghani I, as member of Undiagnosed Disease Network). De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects. Am J Hum Genet. 2019 Oct 3;105(4):854-868. doi: 10.1016/j.ajhg.2019.09.005. PMID: 31585109; PMCID: PMC6817525.

Kanca O, Andrews JC, Lee PT, Patel C, Braddock SR, Slavotinek AM, Cohen JS, Gubbels CS, Aldinger KA, Williams J, Indaram M, Fatemi A, Yu TW, Agrawal PB, Vezina G, Simons C, Crawford J, Lau CC; Undiagnosed Diseases Network, Chung WK, Markello TC, Dobyns WB, Adams DR, Gahl WA, Wangler MF, Yamamoto S, Bellen HJ, Malicdan MCV. (Forghani I, as member of Undiagnosed Disease Network). De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. Am J Hum Genet. 2019 Aug 1;105(2):413-424. doi: 10.1016/j.ajhg.2019.06.014. Epub 2019 Jul 18. Erratum in: Am J Hum Genet. 2019 Sep 5;105(3):672-674. PMID: 31327508; PMCID: PMC6699142.

Johnson BV, Kumar R, Oishi S, Alexander S, Kasherman M, Vega MS, Ivancevic A, Gardner A, Domingo D, Corbett M, Parnell E, Yoon S, Oh T, Lines M, Lefroy H, Kini U, Van Allen M, Grønborg S, Mercier S, Küry S, Bézieau S, Pasquier L, Raynaud M, Afenjar A, Billette de Villemeur T, Keren B, Désir J, Van Maldergem L, Marangoni M, Dikow N, Koolen DA, VanHasselt PM, Weiss M, Zwijnenburg P, Sa J, Reis CF, López-Otín C, Santiago-Fernández O, Fernández-Jaén A, Rauch A, Steindl K, Joset P, Goldstein A, Madan-Khetarpal S, Infante E, Zackai E, Mcdougall C, Narayanan V, Ramsey K, Mercimek-Andrews S, Pena L, Shashi V; Undiagnosed Diseases Network, Schoch K, Sullivan JA, Pinto E Vairo F, Pichurin PN, Ewing SA, Barnett SS, Klee EW, Perry MS, Koenig MK, Keegan CE, Schuette JL, Asher S, Perilla-Young Y, Smith LD, Rosenfeld JA, Bhoj E, Kaplan P, Li D, Oegema R, van Binsbergen E, van der Zwaag B, Smeland MF, Cutcutache I, Page M, Armstrong M, Lin AE, Steeves MA, Hollander ND, Hoffer MJV, Reijnders MRF, Demirdas S, Koboldt DC, Bartholomew D, Mosher TM, Hickey SE, Shieh C, Sanchez-Lara PA, Graham JM Jr, Tezcan K, Schaefer GB, Danylchuk NR, Asamoah A, Jackson KE, Yachelevich N, Au M, Pérez-Jurado LA, Kleefstra T, Penzes P, Wood SA, Burne T, Pierson TM, Piper M, Gécz J, Jolly LA. (Forghani I, as member of Undiagnosed Disease Network). Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling. Biol Psychiatry. 2020 Jan 15;87(2):100112. doi: 10.1016/j.biopsych.2019.05.028. Epub 2019 Jun 29. PMID: 31443933; PMCID: PMC6925349.

Geng LN, Kohler JN, Levonian P; Members of the Undiagnosed Diseases Network, Bernstein JA, Ford JM, Ahuja N, Witteles R, Hom J, Wheeler M. (Forghani I, as member of Undiagnosed Disease Network). Genomics in medicine: a novel elective rotation for internal medicine residents. Postgrad Med J. 2019 Oct;95(1128):569-572. doi: 10.1136/postgradmedj-2018-136355. Epub 2019 Aug 22. PMID: 31439813.

Kanca O, Andrews JC, Lee PT, Patel C, Braddock SR, Slavotinek AM, Cohen JS, Gubbels CS, Aldinger KA, Williams J, Indaram M, Fatemi A, Yu TW, Agrawal PB, Vezina G, Simons C, Crawford J, Lau CC; Undiagnosed Diseases Network, Chung WK, Markello TC, Dobyns WB, Adams DR, Gahl WA, Wangler MF, Yamamoto S, Bellen HJ, Malicdan MCV. (Forghani I, as member of Undiagnosed Disease Network). De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. Am J Hum Genet. 2019 Sep 5;105(3):672-674. doi: 10.1016/j.ajhg.2019.07.017. Erratum for: Am J Hum Genet. 2019 Aug 1;105(2):413-424. PMID: 31491411; PMCID: PMC6732524.

Bhatia A, Mobley BC, Cogan J, Koziura ME, Brokamp E, Phillips J, Newman J; Undiagnosed Diseases Network (UDN), Moore SA, Hamid R; Members of the Undiagnosed Diseases Network. (Forghani I, as member of Undiagnosed Disease Network). Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy. Clin Imaging. 2019 Nov-Dec;58:108113. doi: 10.1016/j.clinimag.2019.06.010. Epub 2019 Jun 21. PMID: 31299614; PMCID: PMC6893088.

Shashi V, Geist J, Lee Y, Yoo Y, Shin U, Schoch K, Sullivan J, Stong N, Smith E, Jasien J, Kranz P; Undiagnosed Diseases Network, Lee Y, Shin YB, Wright NT, Choi M, KontrogianniKonstantopoulos A. (Forghani I, as member of Undiagnosed Disease Network). Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis. Hum Mutat. 2019 Aug;40(8):1115-1126. doi: 10.1002/humu.23760. Epub 2019 May 5. PMID: 31264822; PMCID: PMC6688907.

Nicoli ER, Weston MR, Hackbarth M, Becerril A, Larson A, Zein WM, Baker PR 2nd, Burke JD, Dorward H, Davids M, Huang Y, Adams DR, Zerfas PM, Chen D, Markello TC, Toro C, Wood T, Elliott G, Vu M; Undiagnosed Diseases Network, Zheng W, Garrett LJ, Tifft CJ, Gahl WA, DaySalvatore DL, Mindell JA, Malicdan MCV. (Forghani I, as member of Undiagnosed Disease Network). Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification. Am J Hum Genet. 2019 Jun 6;104(6):1127-1138. doi: 10.1016/j.ajhg.2019.04.008. Epub 2019 May 30. PMID: 31155284; PMCID: PMC6562152.

Guissart C, Latypova X, Rollier P, Khan TN, Stamberger H, McWalter K, Cho MT, Kjaergaard S, Weckhuysen S, Lesca G, Besnard T, Õunap K, Schema L, Chiocchetti AG, McDonald M, de Bellescize J, Vincent M, Van Esch H, Sattler S, Forghani I, Thiffault I, Freitag CM, Barbouth DS, Cadieux-Dion M, Willaert R, Guillen Sacoto MJ, Safina NP, Dubourg C, Grote L, Carré W, Saunders C, Pajusalu S, Farrow E, Boland A, Karlowicz DH, Deleuze JF, Wojcik MH, Pressman R, Isidor B, Vogels A, Van Paesschen W, Al-Gazali L, Al Shamsi AM, Claustres M, Pujol A, Sanders SJ, Rivier F, Leboucq N, Cogné B, Sasorith S, Sanlaville D, Retterer K, Odent S, Katsanis N, Bézieau S, Koenig M, Davis EE, Pasquier L, Küry S. Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia. Am J Hum Genet. 2018 May 3;102(5):744-759. doi: 10.1016/j.ajhg.2018.02.021. Epub 2018 Apr 12. PMID: 29656859; PMCID: PMC5986661.