Lakhani SA - Search Results

1

DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes.

Marquez J, Mann N, Arana K, Deniz E, Ji W, Konstantino M, Mis EK, Deshpande C, Jeffries L, McGlynn J, Hugo H, Widmeier E, Konrad M, Tasic V, Morotti R, Baptista J, Ellard S, Lakhani SA, Hildebrandt F, Khokha MK. Marquez J, et al. Among authors: lakhani sa. J Med Genet. 2021 Jul;58(7):453-464. doi: 10.1136/jmedgenet-2019-106805. Epub 2020 Jul 6. J Med Genet. 2021. PMID: 32631816 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

Cytotoxic T-Lymphocyte-Associated Protein 4 Haploinsufficiency-Associated Inflammation Can Occur Independently of T-Cell Hyperproliferation.

Le Coz C, Nolan BE, Trofa M, Kamsheh AM, Khokha MK, Lakhani SA, Novelli A, Zackai EH, Sullivan KE, Briuglia S, Bhatti TR, Romberg N. Le Coz C, et al. Among authors: lakhani sa. Front Immunol. 2018 Jul 24;9:1715. doi: 10.3389/fimmu.2018.01715. eCollection 2018. Front Immunol. 2018. PMID: 30087679 Free PMC article.

5

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.

6

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

7

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

8

A Novel Pathogenic UGT1A1 Variant in a Sudanese Child with Type 1 Crigler-Najjar Syndrome.

Elfar W, Järvinen E, Ji W, Mosorin J, Sega AG, Iuga AC, Lobritto SJ, Konstantino M, Chan A, Finel M, Lakhani SA. Elfar W, et al. Among authors: lakhani sa. Drug Metab Dispos. 2019 Jan;47(1):45-48. doi: 10.1124/dmd.118.084368. Epub 2018 Nov 1. Drug Metab Dispos. 2019. PMID: 30385458

9

A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death.

Penque BA, Su L, Wang J, Ji W, Bale A, Luh F, Fulbright RK, Sarmast U, Sega AG, Konstantino M, Spencer-Manzon M, Pierce R, Yen Y, Lakhani SA. Penque BA, et al. Among authors: lakhani sa. Eur J Med Genet. 2019 Nov;62(11):103574. doi: 10.1016/j.ejmg.2018.11.008. Epub 2018 Nov 12. Eur J Med Genet. 2019. PMID: 30439532

10

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.

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