Below are the most recent publications written about "Pedigree" by people in Profiles.
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Wu ZB, Sui ZY, Peng LH, Ghemrawi M, Duncan G, Jones H, O'Brien SJ, Luo SJ. Forensic assessment of kinship, genomic ancestry, and natural history of an iconic tiger of Harlem, New York City. J Hered. 2025 07 21; 116(4):397-407.
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Raber IM, Khalili A, Khang R, Buch PM, Eagle RC, Seo GH, Lee H, Milman T. Corneal Myofibromatous and Pterygium-Like Changes in a Family With a PDGFRB Variant. Cornea. 2025 Feb 18; 44(10):1219-1228.
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Dharmadhikari AV, Abad MA, Khan S, Maroofian R, Sands TT, Ullah F, Samejima I, Shen Y, Wear MA, Moore KE, Kondakova E, Mitina N, Schaub T, Lee GK, Umandap CH, Berger SM, Iglesias AD, Popp B, Abou Jamra R, Gabriel H, Rentas S, Rippert AL, Gray C, Izumi K, Conlin LK, Koboldt DC, Mosher TM, Hickey SE, Albert DVF, Norwood H, Lewanda AF, Dai H, Liu P, Mitani T, Marafi D, Eker HK, Pehlivan D, Posey JE, Lippa NC, Vena N, Heinzen EL, Goldstein DB, Mignot C, de Sainte Agathe JM, Al-Sannaa NA, Zamani M, Sadeghian S, Azizimalamiri R, Seifia T, Zaki MS, Abdel-Salam GMH, Abdel-Hamid MS, Alabdi L, Alkuraya FS, Dawoud H, Lofty A, Bauer P, Zifarelli G, Afzal E, Zafar F, Efthymiou S, Gossett D, Towne MC, Yeneabat R, Perez-Duenas B, Cazurro-Gutierrez A, Verdura E, Cantarin-Extremera V, Marques ADV, Helwak A, Tollervey D, Wontakal SN, Aggarwal VS, Rosenfeld JA, Tarabykin V, Ohta S, Lupski JR, Houlden H, Earnshaw WC, Davis EE, Jeyaprakash AA, Liao J. RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS. Nat Commun. 2025 Feb 17; 16(1):1703.
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Tsiortou P, Alexopoulos H, Kyriakidis K, Kosmidis M, Barba C, Akrivou S, Michalopoulos I, Politis P, Dalakas MC. Immunogenetic Studies in Patients With GAD-Positive Stiff-Person Syndrome Reveal Novel Lymphocytic Genes and KLK10-Gene Variants. Neurol Neuroimmunol Neuroinflamm. 2025 Mar; 12(2):e200373.
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Biglari S, Nikuei P, Mir A, Vahidnezhad H, Youssefian L, Moghaddam AS, Tabatabaiefar MA, Saeidian AH, Khorram E, Fard MAF, Farbood Z, Shahrooei M, Khorshid HRK, Esmaeilzadeh E. Ataxia With Vitamin E Deficiency: Case Series, Vitamin E Therapy Response, Founder Effect, and In Silico Analysis. Clin Genet. 2025 03; 107(3):366-368.
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Munir A, Khan IU, Rashid A, Anwar I, Shah S, Oreshkov S, Ullah M, Khan HA, Ullah U, Ahmad A, Ansar M, Rehman AU. A novel homozygous missense variant in POC1B causes cone dystrophy in a consanguineous Pakistani family. Ophthalmic Genet. 2025 02; 46(1):47-55.
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Esmaeilzadeh E, Biglari S, Mosallaei M, Khorshid HRK, Vahidnezhad H, Tabatabaiefar MA. A Novel Homozygote Pathogenic Variant in the DIAPH1 Gene Associated With Seizures, Cortical Blindness, and Microcephaly Syndrome (SCBMS): Report of a Family and Literature Review. Mol Genet Genomic Med. 2024 Nov; 12(11):e70031.
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Barish S, Lin SJ, Maroofian R, Gezdirici A, Alhebby H, Trimouille A, Biderman Waberski M, Mitani T, Huber I, Tveten K, Holla ?L, Busk ?L, Houlden H, Ghayoor Karimiani E, Beiraghi Toosi M, Shervin Badv R, Najarzadeh Torbati P, Eghbal F, Akhondian J, Al Safar A, Alswaid A, Zifarelli G, Bauer P, Marafi D, Fatih JM, Huang K, Petree C, Calame DG, von der Lippe C, Alkuraya FS, Wali S, Lupski JR, Varshney GK, Posey JE, Pehlivan D. Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia. Am J Hum Genet. 2024 11 07; 111(11):2566-2581.
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Amiri Roudbar M, Vahedi SM, Jin J, Jahangiri M, Lanjanian H, Habibi D, Masjoudi S, Riahi P, Fateh ST, Neshati F, Zahedi AS, Moazzam-Jazi M, Najd-Hassan-Bonab L, Mousavi SF, Asgarian S, Zarkesh M, Moghaddas MR, Tenesa A, Kazemnejad A, Vahidnezhad H, Hakonarson H, Azizi F, Hedayati M, Daneshpour MS, Akbarzadeh M. The effect of family structure on the still-missing heritability and genomic prediction accuracy of type 2 diabetes. Hum Genomics. 2024 09 11; 18(1):98.
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Chen JR, Shah VN, Pritting C, Nooromid M, Abai B, Plestis K. Like Father like Daughter: Surgical Redo Thoracoabdominal Aneurysm Repairs in a Family With Loeys-Dietz Syndrome. Vasc Endovascular Surg. 2025 Jan; 59(1):93-96.