Lakhani SA - Search Results

1

Human autoinflammatory disease reveals ELF4 as a transcriptional regulator of inflammation.

Tyler PM, Bucklin ML, Zhao M, Maher TJ, Rice AJ, Ji W, Warner N, Pan J, Morotti R, McCarthy P, Griffiths A, van Rossum AMC, Hollink IHIM, Dalm VASH, Catanzaro J, Lakhani SA, Muise AM, Lucas CL. Tyler PM, et al. Among authors: lakhani sa. Nat Immunol. 2021 Sep;22(9):1118-1126. doi: 10.1038/s41590-021-00984-4. Epub 2021 Jul 29. Nat Immunol. 2021. PMID: 34326534 Free PMC article.

2

A novel SAMD9 mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history.

Jeffries L, Shima H, Ji W, Panisello-Manterola D, McGrath J, Bird LM, Konstantino M, Narumi S, Lakhani S. Jeffries L, et al. Am J Med Genet A. 2018 Feb;176(2):415-420. doi: 10.1002/ajmg.a.38557. Epub 2017 Dec 21. Am J Med Genet A. 2018. PMID: 29266745

3

Patients with common variable immunodeficiency with autoimmune cytopenias exhibit hyperplastic yet inefficient germinal center responses.

Romberg N, Le Coz C, Glauzy S, Schickel JN, Trofa M, Nolan BE, Paessler M, Xu ML, Lambert MP, Lakhani SA, Khokha MK, Jyonouchi S, Heimall J, Takach P, Maglione PJ, Catanzaro J, Hsu FI, Sullivan KE, Cunningham-Rundles C, Meffre E. Romberg N, et al. Among authors: lakhani sa. J Allergy Clin Immunol. 2019 Jan;143(1):258-265. doi: 10.1016/j.jaci.2018.06.012. Epub 2018 Jun 20. J Allergy Clin Immunol. 2019. PMID: 29935219 Free PMC article. Clinical Trial.

4

Whole-Exome Sequencing of Adult and Pediatric Cohorts of the Rare Vascular Disorder Systemic Capillary Leak Syndrome.

Pierce R, Ji W, Chan EC, Xie Z, Long LM, Khokha M, Lakhani S, Druey KM. Pierce R, et al. Shock. 2019 Aug;52(2):183-190. doi: 10.1097/SHK.0000000000001254. Shock. 2019. PMID: 30289850 Free PMC article.

5

Two siblings with a novel nonsense variant provide further delineation of the spectrum of recessive KLHL7 diseases.

Jeffries L, Olivieri JE, Ji W, Spencer-Manzon M, Bale A, Konstantino M, Lakhani SA. Jeffries L, et al. Among authors: lakhani sa. Eur J Med Genet. 2019 Sep;62(9):103551. doi: 10.1016/j.ejmg.2018.10.003. Epub 2018 Oct 6. Eur J Med Genet. 2019. PMID: 30300710

6

De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy.

Sega AG, Mis EK, Lindstrom K, Mercimek-Andrews S, Ji W, Cho MT, Juusola J, Konstantino M, Jeffries L, Khokha MK, Lakhani SA. Sega AG, et al. Among authors: lakhani sa. J Med Genet. 2019 Feb;56(2):113-122. doi: 10.1136/jmedgenet-2018-105322. Epub 2018 Oct 15. J Med Genet. 2019. PMID: 30323019

7

Siblings with lethal primary pulmonary hypoplasia and compound heterozygous variants in the AARS2 gene: further delineation of the phenotypic spectrum.

Kiraly-Borri C, Jevon G, Ji W, Jeffries L, Ricciardi JL, Konstantino M, Ackerman KG, Lakhani SA. Kiraly-Borri C, et al. Among authors: lakhani sa. Cold Spring Harb Mol Case Stud. 2019 Jun 3;5(3):a003699. doi: 10.1101/mcs.a003699. Print 2019 Jun. Cold Spring Harb Mol Case Stud. 2019. PMID: 30819764 Free PMC article.

8

Identification of novel mutations and phenotype in the steroid resistant nephrotic syndrome gene NUP93: a case report.

Sandokji I, Marquez J, Ji W, Zerillo CA, Konstantino M, Lakhani SA, Khokha MK, Warejko JK. Sandokji I, et al. Among authors: lakhani sa. BMC Nephrol. 2019 Jul 17;20(1):271. doi: 10.1186/s12882-019-1458-z. BMC Nephrol. 2019. PMID: 31315584 Free PMC article.

9

Identification of a novel MYOC variant in a Hispanic family with early-onset primary open-angle glaucoma with elevated intraocular pressure.

Criscione J, Ji W, Jeffries L, McGrath JM, Soloway S, Pusztai L, Lakhani S. Criscione J, et al. Cold Spring Harb Mol Case Stud. 2019 Dec 13;5(6):a004374. doi: 10.1101/mcs.a004374. Print 2019 Dec. Cold Spring Harb Mol Case Stud. 2019. PMID: 31653660 Free PMC article.

10

A novel variant in MAP3K7 associated with an expanded cardiospondylocarpofacial syndrome phenotype.

AbuBakr F, Jeffries L, Ji W, McGrath JM, Lakhani SA. AbuBakr F, et al. Among authors: lakhani sa. Cold Spring Harb Mol Case Stud. 2020 Jun 12;6(3):a005207. doi: 10.1101/mcs.a005207. Print 2020 Jun. Cold Spring Harb Mol Case Stud. 2020. PMID: 32299812 Free PMC article.

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