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De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.
Am J Hum Genet. 2021 Jul 1;108(7):1330-1341. doi: 10.1016/j.ajhg.2021.05.007. Epub 2021 Jun 7.
Am J Hum Genet. 2021.
PMID: 34102099
Free PMC article.
Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing.
Fliedner A, Kirchner P, Wiesener A, van de Beek I, Waisfisz Q, van Haelst M, Scott DA, Lalani SR, Rosenfeld JA, Azamian MS, Xia F, Dutra-Clarke M, Martinez-Agosto JA, Lee H; UCLA Clinical Genomics Center; Noh GJ, Lippa N, Alkelai A, Aggarwal V, Agre KE, Gavrilova R, Mirzaa GM, Straussberg R, Cohen R, Horist B, Krishnamurthy V, McWalter K, Juusola J, Davis-Keppen L, Ohden L, van Slegtenhorst M, de Man SA, Ekici AB, Gregor A, van de Laar I, Zweier C.
Fliedner A, et al.
Am J Hum Genet. 2020 Sep 3;107(3):544-554. doi: 10.1016/j.ajhg.2020.06.019. Epub 2020 Jul 29.
Am J Hum Genet. 2020.
PMID: 32730804
Free PMC article.
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14q32.11 microdeletion including CALM1, TTC7B, PSMC1, and RPS6KA5: A new potential cause of developmental and language delay in three unrelated patients.
Eno CC, Graakjaer J, Svaneby D, Nizon M, Kianmahd J, Signer R, Martinez-Agosto JA, Quintero-Rivera F.
Eno CC, et al. Among authors: kianmahd j.
Am J Med Genet A. 2021 May;185(5):1519-1524. doi: 10.1002/ajmg.a.62117. Epub 2021 Feb 25.
Am J Med Genet A. 2021.
PMID: 33634591
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A case report of a novel germline GNAS mutation in sonic hedgehog activated medulloblastoma.
Crane JN, Chang VY, Yong WH, Salamon N; Hane Lee for UCLA Clinical Genomics Center; Kianmahd J, Dorrani N, Martinez-Agosto JA, Davidson TB.
Crane JN, et al. Among authors: kianmahd j.
Pediatr Blood Cancer. 2020 Mar;67(3):e28103. doi: 10.1002/pbc.28103. Epub 2019 Dec 2.
Pediatr Blood Cancer. 2020.
PMID: 31793173
Free PMC article.
No abstract available.
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Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms.
Yabumoto M, Kianmahd J, Singh M, Palafox MF, Wei A, Elliott K, Goodloe DH, Dean SJ, Gooch C, Murray BK, Swartz E, Schrier Vergano SA, Towne MC, Nugent K, Roeder ER, Kresge C, Pletcher BA, Grand K, Graham JM Jr, Gates R, Gomez-Ospina N, Ramanathan S, Clark RD, Glaser K, Benke PJ, Cohen JS, Fatemi A, Mu W, Baranano KW, Madden JA, Gubbels CS, Yu TW, Agrawal PB, Chambers MK, Phornphutkul C, Pugh JA, Tauber KA, Azova S, Smith JR, O'Donnell-Luria A, Medsker H, Srivastava S, Krakow D, Schweitzer DN, Arboleda VA.
Yabumoto M, et al. Among authors: kianmahd j.
Mol Genet Genomic Med. 2021 Oct;9(10):e1809. doi: 10.1002/mgg3.1809. Epub 2021 Sep 14.
Mol Genet Genomic Med. 2021.
PMID: 34519438
Free PMC article.
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Patterns of Comorbidity Among Girls With ADHD: A Meta-analysis.
Tung I, Li JJ, Meza JI, Jezior KL, Kianmahd JS, Hentschel PG, O'Neil PM, Lee SS.
Tung I, et al. Among authors: kianmahd js.
Pediatrics. 2016 Oct;138(4):e20160430. doi: 10.1542/peds.2016-0430. Epub 2016 Sep 21.
Pediatrics. 2016.
PMID: 27694280
Free PMC article.
Review.
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Family Perspectives on Newborn Screening for X-Linked Adrenoleukodystrophy in California.
Schwan K, Youngblom J, Weisiger K, Kianmahd J, Waggoner R, Fanos J.
Schwan K, et al. Among authors: kianmahd j.
Int J Neonatal Screen. 2019 Nov 13;5(4):42. doi: 10.3390/ijns5040042. eCollection 2019 Dec.
Int J Neonatal Screen. 2019.
PMID: 33073000
Free PMC article.
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Lynch syndrome patients' views of and preferences for return of results following whole exome sequencing.
Hitch K, Joseph G, Guiltinan J, Kianmahd J, Youngblom J, Blanco A.
Hitch K, et al. Among authors: kianmahd j.
J Genet Couns. 2014 Aug;23(4):539-51. doi: 10.1007/s10897-014-9687-6. Epub 2014 Jan 22.
J Genet Couns. 2014.
PMID: 24449059
Free PMC article.
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