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Items: 27

1.

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.

BMC Nephrol. 2019 Jul 17;20(1):271. doi: 10.1186/s12882-019-1458-z.

2.

Rethinking what constitutes a diagnosis in the genomics era: a critical illness perspective.

Lakhani SA, Pierce R.

Curr Opin Pediatr. 2019 Jun;31(3):317-321. doi: 10.1097/MOP.0000000000000754.

PMID:
31090571
3.

Rethinking what constitutes a diagnosis in the genomics era: a critical illness perspective.

Lakhani SA, Pierce R.

Curr Opin Pediatr. 2019 Mar 18. doi: 10.1097/MOP.0000000000000754. [Epub ahead of print]

PMID:
30893184
4.

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.

Cold Spring Harb Mol Case Stud. 2019 Jun 3;5(3). pii: a003699. doi: 10.1101/mcs.a003699. Print 2019 Jun.

5.

Safety and Utility of Continuous Ketamine Infusion for Sedation in Mechanically Ventilated Pediatric Patients.

Heiberger AL, Ngorsuraches S, Olgun G, Luze L, Leimbach C, Madison H, Lakhani SA.

J Pediatr Pharmacol Ther. 2018 Nov-Dec;23(6):447-454. doi: 10.5863/1551-6776-23.6.447.

6.

Data Science for Child Health.

Bennett TD, Callahan TJ, Feinstein JA, Ghosh D, Lakhani SA, Spaeder MC, Szefler SJ, Kahn MG.

J Pediatr. 2019 May;208:12-22. doi: 10.1016/j.jpeds.2018.12.041. Epub 2019 Jan 25. No abstract available.

PMID:
30686480
7.

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.

Eur J Med Genet. 2018 Nov 12:103574. doi: 10.1016/j.ejmg.2018.11.008. [Epub ahead of print]

PMID:
30439532
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.

Drug Metab Dispos. 2019 Jan;47(1):45-48. doi: 10.1124/dmd.118.084368. Epub 2018 Nov 1.

PMID:
30385458
9.

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.

J Med Genet. 2019 Feb;56(2):113-122. doi: 10.1136/jmedgenet-2018-105322. Epub 2018 Oct 15.

PMID:
30323019
10.

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.

Eur J Med Genet. 2019 Sep;62(9):103551. doi: 10.1016/j.ejmg.2018.10.003. Epub 2018 Oct 6.

PMID:
30300710
11.

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.

Front Immunol. 2018 Jul 24;9:1715. doi: 10.3389/fimmu.2018.01715. eCollection 2018.

12.

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.

J Allergy Clin Immunol. 2019 Jan;143(1):258-265. doi: 10.1016/j.jaci.2018.06.012. Epub 2018 Jun 20.

PMID:
29935219
13.

Financial, Resource Utilization and Mortality Impacts of Teaching Hospital Status on Pediatric Patients Admitted for Sepsis.

Hsu BS, Meyer BD, Lakhani SA.

Pediatr Infect Dis J. 2017 Aug;36(8):712-719. doi: 10.1097/INF.0000000000001526.

PMID:
28033241
14.

Acid-Base Disorders.

Hsu BS, Lakhani SA, Wilhelm M.

Pediatr Rev. 2016 Sep;37(9):361-9. doi: 10.1542/pir.2015-0093. Review. No abstract available.

PMID:
27587638
15.

Pediatric Traumatic Brain Injury.

Schaller AL, Lakhani SA, Hsu BS.

S D Med. 2015 Oct;68(10):457-61, 463.

PMID:
26630835
16.

Apoptotic caspases prevent the induction of type I interferons by mitochondrial DNA.

Rongvaux A, Jackson R, Harman CC, Li T, West AP, de Zoete MR, Wu Y, Yordy B, Lakhani SA, Kuan CY, Taniguchi T, Shadel GS, Chen ZJ, Iwasaki A, Flavell RA.

Cell. 2014 Dec 18;159(7):1563-77. doi: 10.1016/j.cell.2014.11.037.

17.

JNK expression by macrophages promotes obesity-induced insulin resistance and inflammation.

Han MS, Jung DY, Morel C, Lakhani SA, Kim JK, Flavell RA, Davis RJ.

Science. 2013 Jan 11;339(6116):218-22. doi: 10.1126/science.1227568. Epub 2012 Dec 6.

18.

Endoplasmic reticulum stress-induced death of mouse embryonic fibroblasts requires the intrinsic pathway of apoptosis.

Masud A, Mohapatra A, Lakhani SA, Ferrandino A, Hakem R, Flavell RA.

J Biol Chem. 2007 May 11;282(19):14132-9. Epub 2007 Mar 19.

19.

Molar tooth development in caspase-3 deficient mice.

Matalova E, Sharpe PT, Lakhani SA, Roth KA, Flavell RA, Setkova J, Misek I, Tucker AS.

Int J Dev Biol. 2006;50(5):491-7.

20.

Caspases 3 and 7: key mediators of mitochondrial events of apoptosis.

Lakhani SA, Masud A, Kuida K, Porter GA Jr, Booth CJ, Mehal WZ, Inayat I, Flavell RA.

Science. 2006 Feb 10;311(5762):847-51.

21.

Toll-like receptor signaling in sepsis.

Lakhani SA, Bogue CW.

Curr Opin Pediatr. 2003 Jun;15(3):278-82. Review.

PMID:
12806257
22.

Influence of cold working and thermal treatment on the fit of implant-supported metal-ceramic fixed partial dentures.

Lakhani SA, Ercoli C, Moss ME, Graser GN, Tallents RH.

J Prosthet Dent. 2002 Aug;88(2):159-69.

PMID:
12397243
23.

Infant feeding practices among middle income urban Africans and Indians in Kenya.

Lakhani SA, Jansen AA.

East Afr Med J. 1987 Feb;64(2):122-30.

PMID:
3622338
24.

Some anthropometric values of Indian infants from Nairobi compared with infants from India, United Kingdom and the Harvard reference values.

Lakhani SA, Jansen AA, Gemert W.

East Afr Med J. 1986 May;63(5):304-11. No abstract available.

PMID:
3743483
25.

Machakos project studies No. XXIV. Anthropometric changes during pregnancy in rural African women.

Jansen AA, Kusin JA, Thiuri B, Lakhani SA, t Mannetje W.

Trop Geogr Med. 1984 Mar;36(1):91-7.

PMID:
6729988
26.

Human milk and milk formulas for infant feeding.

Lakhani SA, Chaudhri T, Jansen AA.

East Afr Med J. 1983 Mar;60(3):181-5. No abstract available.

PMID:
6688581
27.

Anthropometric changes during pregnancy of urban Indian women related to birthweight.

Lakhani SA, Sequeira E, Thiuri B, Mannetje W, Jansen AA.

J Obstet Gynaecol East Cent Africa. 1982 Jun;1(2):84-9.

PMID:
12313670

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