Publications by authors named "Saquib A Lakhani"

25Publications

The latest FADS: Functional analysis of GLDN patient variants and classification of GLDN-associated AMC as a type of viable fetal akinesia deformation sequence.

Am J Med Genet A 2020 10 19;182(10):2291-2296. Epub 2020 Aug 19.

Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA.

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October 2020

DYNC1H1-related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants.

Am J Med Genet A 2020 09 13;182(9):2049-2057. Epub 2020 Jul 13.

Department of Pediatrics, Pediatric Genomics Discovery Program, Yale University School of Medicine, New Haven, Connecticut, USA.

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September 2020

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

Cold Spring Harb Mol Case Stud 2020 06 12;6(3). Epub 2020 Jun 12.

Pediatric Genomics Discovery Program, Department of Pediatrics, New Haven, Connecticut 06510, USA.

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June 2020

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

BMC Nephrol 2019 07 17;20(1):271. Epub 2019 Jul 17.

Department of Pediatrics, Section of Nephrology, Yale University School of Medicine, 333 Cedar St., PO Box 208064, New Haven, CT, 06520-8064, USA.

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July 2019

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

Curr Opin Pediatr 2019 06;31(3):317-321

Department of Pediatrics, Pediatric Genomics Discovery Program, Yale University School of Medicine, New Haven, Connecticut, USA.

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June 2019

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

Cold Spring Harb Mol Case Stud 2019 06 3;5(3). Epub 2019 Jun 3.

Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut 06437, USA.

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June 2019

Data Science for Child Health.

J Pediatr 2019 05 25;208:12-22. Epub 2019 Jan 25.

Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO; Computational Bioscience Program, University of Colorado Denver Anschutz Medical Campus, Aurora, CO.

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May 2019

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

Eur J Med Genet 2019 Nov 12;62(11):103574. Epub 2018 Nov 12.

Pediatric Genomics Discovery Program, Department of Pediatrics, Section of Critical Care Medicine, Yale University School of Medicine, New Haven, CT, USA. Electronic address:

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November 2019

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

Drug Metab Dispos 2019 01 1;47(1):45-48. Epub 2018 Nov 1.

Department of Pediatrics, Milton S. Hershey Penn State Medical Center, Hershey, Pennsylvania (W.E.); Division of Pharmaceutical Chemistry and Technology, University of Helsinki, Helsinki, Finland (E.J., J.M., M.F.); Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut (W.J., A.G.S., M.K., S.A.L.); Departments of Pathology and Cell Biology (A.C.I.) and Surgery (S.J.L.), Columbia University Medical Center, New York, New York; and Department of Pediatrics, University of Rochester Medical Center, Rochester, New York (A.C.)

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January 2019

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

Eur J Med Genet 2019 Sep 6;62(9):103551. Epub 2018 Oct 6.

Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, CT, USA. Electronic address:

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September 2019

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

Pediatr Infect Dis J 2017 08;36(8):712-719

From the Division of Critical Care Medicine, Department of Pediatrics, Sanford School of Medicine, University of South Dakota, Sioux Falls, South Dakota.

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August 2017

Acid-Base Disorders.

Pediatr Rev 2016 Sep;37(9):361-9

Pediatric Critical Care, University of Wisconsin School of Medicine and Public Health, Madison, WI.

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September 2016