SaquibAliLakhaniMD

PubMed

• A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder.
  Szot, J., Cuny, H., Martin, E., Sheng, D., Iyer, K., Portelli, S., Nguyen, V., Gereis, J., Alankarage, D., Chitayat, D., Chong, K., Wentzensen, I., Vincent-Delormé, C....> ;The Journal of Clinical Investigation. 2024 Feb 15
• A genetically modulated Toll-like-receptor-tolerant phenotype in peripheral blood cells of children with multisystem inflammatory syndrome.
  Khan, R., Ji, W., Guzman-Rivera, J., Madhvi, A., Andrews, T., Richlin, B., Suarez, C., Gaur, S., Cuddy, W., Singh, A., Bukulmez, H., Kaelber, D., Kimura, Y., Ganapathi...> ;Medrxiv. 2024 Feb 5
• 1 citations
  Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
  Agrawal, P. B., Lauren Jeffries, Emily K Mis, Kirsty McWalter, Sandra Donkervoort, Nina N Brodsky, Jean-Marie Carpier, Weizhen Ji, Cristian Ionita, Bhaskar Roy, Jon S ...> ;Genetics in Medicine. 2024 Feb 1
• "Deficiency in ELF4, X-Linked": a Monogenic Disease Entity Resembling Behçet's Syndrome and Inflammatory Bowel Disease.
  Olyha, S., O'Connor, S., Kribis, M., Bucklin, M., Uthaya Kumar, D., Tyler, P., Alam, F., Jones, K., Sheikha, H., Konnikova, L., Lakhani, S., Montgomery, R., Catanzaro,...> ;Journal of Clinical Immunology. 2024 Jan 17
• Sequence variants in different genes underlying Bardet-Biedl syndrome in four consanguineous families.
  Amjad Ali, Abdullah, Muhammad Bilal, Emily Kathryn Mis, Saquib Ali Lakhani, Wasim Ahmad, Imran Ullah> ;Molecular Biology Reports. 2023 Dec 1
• Sequence variants in DLX5, HOXD13 and 445 kb-microduplication surrounding BTRC cause split-hand/foot malformation in three different families.
  Abdullah, Shabir Hussain, Weizhen Ji, Hammal Khan, Emily K Mis, Rabiha Mushtaq, Mirub Chodhary, Muhammad Hassan Raza, Abid Jan, Imran Ullah, Mustafa K Khokha, Saquib A...> ;Clinical Genetics. 2024 Jan 1
• Variable CD18 expression in a 22-year-old female with leukocyte adhesion deficiency I: Clinical case and literature review.
  Anastasiia V Bondarenko, Oksana R Boyarchuk, Inga S Sakovich, Ekaterina A Polyakova, Alexander A Migas, Aleksandra N Kupchinskaya, Aleksandra Opalinska, Adam Reich, Li...> ;Clinical Case Reports. 2023 Aug 1
• 1 citations
  Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta.
  Véronique Caron, Nicolas Chassaing, Nicola Ragge, Felix Boschann, Angelina My-Hoa Ngu, Elisabeth Meloche, Sarah Chorfi, Saquib A Lakhani, Weizhen Ji, Laurie Steiner, J...> ;Genetics in Medicine. 2023 Aug 1
• 1 citations
  Fetal akinesia deformation sequence syndrome associated with recessive TTN variants.
  Ebba Alkhunaizi, Nicole Martin, Angie C Jelin, Mara Rosner, Diana J Bailey, Laurie A Steiner, Saquib Lakhani, Weizhen Ji, Philip J Katzman, Katherine R Forster, Olga J...> ;American Journal of Medical Genetics. Part A. 2023 Mar 1
• A retrospective cohort analysis of the Yale pediatric genomics discovery program.
  Deniz, E., Samir Al-Ali, Lauren Jeffries, E Vincent S Faustino, Weizhen Ji, Emily Mis, Monica Konstantino, Cynthia Zerillo, Yong-Hui Jiang, Michele Spencer-Manzon, All...> ;American Journal of Medical Genetics. Part A. 2022 Oct 1
• Altered mental status and vulvar ulcer in a 10-year-old girl.
  Katelyn H Wong, Lauren Flagg, Nicolle Ocasio Abrams, Anjela Galan, Saquib A Lakhani> ;Journal of Paediatrics and Child Health. 2022 Nov 1
• 1 citations
  variant with the novel phenotype of mixed‑type total anomalous pulmonary venous return in Holt‑Oram Syndrome and variable intrafamilial heart defects.
  Bilal Azab, Dunia Aburizeg, Weizhen Ji, Lauren Jeffries, Nooredeen Jamal Isbeih, Amal Saleh Al-Akily, Hashim Mohammad, Yousef Abu Osba, Mohammad A Shahin, Zain Dardas,...> ;Molecular Medicine Reports. 2022 Jun 1
• Examination of Early Endotracheal Aspirate Cultures in Children with Acute Respiratory Failure Due to Presumed Acute Respiratory Tract Infection.
  Gokhan Olgun, Lesta D Whalen, Ashley R Sandeen, Fernando J Bula-Rudas, Saquib A Lakhani> ;South Dakota Medicine. 2022 Jun 1
• 24 citations
  Human autoinflammatory disease reveals ELF4 as a transcriptional regulator of inflammation.
  Paul M. Tyler, Molly L. Bucklin, Mengting Zhao, Timothy J. Maher, Andrew J. Rice, Weizhen Ji, Neil Warner, Jie Pan, Raffaella A. Morotti, Paul L. McCarthy, Anne M. Gri...> ;Nature Immunology. 2021 Jul 29
• 7 citations
  DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes
  Deniz, E., Jonathan Marquez, Nina Mann, Kathya Arana, Engin Deniz, Weizhen Ji, Monica Konstantino, Emily K Mis, Charu Deshpande, Lauren Jeffries, Julie A. McGlynn, Han...> ;Journal of Medical Genetics. 2021 Jul 27
• 2 citations
  Functional testing for variant prioritization in a family with long QT syndrome
  Maliheh Najari Beidokhti, Alexander C. Bertalovitz, Weizhen Ji, Jorge McCormack, Lauren Jeffries, Emily Sempou, Mustafa K. Khokha, Thomas V. McDonald, Saquib A. Lakhani> ;Molecular Genetics and Genomics. 2021 Apr 19
• 7 citations
  Uncontrolled Epstein-Barr Virus as an Atypical Presentation of Deficiency in ADA2 (DADA2).
  Joel P Brooks, Andrew J. Rice, Weizhen Ji, Stephen M. Lanahan, Monica Konstantino, Jasmeen Dara, Michael S. Hershfield, Amy Cruickshank, Elif Dokmeci, Saquib A. Lakhan...> ;Journal of Clinical Immunology. 2021 Jan 4
• 5 citations
  Expansion of NEUROD2 phenotypes to include developmental delay without seizures.
  Emily K Mis, Annalisa G Sega, Rebecca Signer, Tracy Cartwright, Weizhen Ji, Julian A. Martinez-Agosto, Stanley F. Nelson, Christina G.S. Palmer, Hane Lee, Thomas Mitze...> ;American Journal of Medical Genetics. Part A. 2021 Jan 13
• 5 citations
  The latest FADS: Functional analysis of GLDN patient variants and classification of GLDN-associated AMC as a type of viable fetal akinesia deformation sequence.
  Emily K Mis, Samir Al-Ali, Weizhen Ji, Michele Spencer-Manzon, Monica Konstantino, Mustafa K. Khokha, Lauren Jeffries, Saquib A. Lakhani> ;American Journal of Medical Genetics. Part A. 2020 Aug 19
• 17 citations
  Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome
  Reham Alharatani, Athina Vervari, Ana Beleza-Meireles, Weizhen Ji, Emily K Mis, Quinten Patterson, John N. Griffin, Nabina Bhujel, Caitlin A. Chang, Abhijit Dixit, Mon...> ;Human Molecular Genetics. 2020 Jul 21
• 22 citations
  DYNC1H1-related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants
  Sonia Amabile, Lauren Jeffries, James L. McGrath, Weizhen Ji, Michele Spencer-Manzon, Hui Zhang, Saquib A. Lakhani> ;American Journal of Medical Genetics. Part A. 2020 Jul 13
• 7 citations
  A novel variant in MAP3K7 associated with an expanded cardiospondylocarpofacial syndrome phenotype.
  Fatima AbuBakr, Lauren Jeffries, Weizhen Ji, James L. McGrath, Saquib A. Lakhani> ;Cold Spring Harbor Molecular Case Studies. 2020 Jun 12
• 9 citations
  Novel compound heterozygous variants in NHLRC2 in a patient with FINCA syndrome.
  Nina N. Brodsky, Oksana Boyarchuk, Tetyana Kovalchuk, Tetyana Hariyan, Andrew J. Rice, Weizhen Ji, Mustafa K. Khokha, Saquib A. Lakhani, Carrie L. Lucas> ;Journal of Human Genetics. 2020 May 21
• 15 citations
  Familial Dilated Cardiomyopathy Associated With a Novel Combination of Compound Heterozygous TNNC1 Variants
  Maicon Landim-Vieira, Jamie R. Johnston, Weizhen Ji, Emily K Mis, Joshua Tijerino, Michele Spencer-Manzon, Lauren Jeffries, E Kevin Hall, David Panisello-Manterola, Mu...> ;Frontiers in Physiology. 2020 Jan 22
• 4 citations
  Identification of a novel MYOC variant in a Hispanic family with early-onset primary open-angle glaucoma with elevated intraocular pressure.
  June Criscione, Weizhen Ji, Lauren Jeffries, James L. McGrath, Scott M. Soloway, Lajos Pusztai, Saquib A. Lakhani> ;Cold Spring Harbor Molecular Case Studies. 2019 Dec 13
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Books/Book Chapters

• Apoptosis and Autoimmunity 
  Chapter: Caspase knockouts: matters of life and death 
  Lakhani S, Lu B, Flavell RAEditors: Kalden JR, Herrmann M.Wiley - VCHEdition 1,2003