Saquib Ali Lakhani (Saquib A Lakhani, Saquib Lakhani)

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 21

Top Venues

American journal of medical genetics. Part A

medRxiv : the preprint server for health sciences

Journal of medical genetics

Cold Spring Harbor molecular case studies

Yale University School of Medicine

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Yale University School of Medicine

United States

Associate Professor, Pediatric Critical Care

Yale University School of Medicine

United States

Clinical Director, Pediatric Genomics Discovery Program :: Pediatrics

Yale University School of Medicine

United States

Assistant Professor, Pediatric Critical Care :: Pediatrics

Sanford Children's Hospital Sioux Falls

United States

Associate Professor, Pediatric Critical Care :: Pediatrics

Shady Grove Adventist Hospital

United States

Director, Pediatric Intensive Care Unit and Pediatric Inpatient Associates

Yale University School of Medicine

United States

Associate Research Scientist, Pediatric Critical Care :: Pediatrics

Publications

Somesh Gupta, Weizhen Ji, Jeisac Guzman-Rivera, Abhilasha Madhvi, Tracy Andrews, Benjamin Richlin, Christian Suarez, Sunanda Gaur, William Cuddy, Aalok R Singh, Hulya Bukulmez, David Kaelber, Yukiko Kimura, Usha Ganapathi, Ioannis E Michailidis, Rahul Ukey, Sandra Moroso-Fela, John K Kuster, Myriam Casseus, Jason Roy, Lawrence C Kleinman, Daniel B Horton, Saquib Ali Lakhani, Maria Laura Gennaro
A genetically modulated Toll-like-receptor-tolerant phenotype in peripheral blood cells of children with multisystem inflammatory syndrome. medRxiv : the preprint server for health sciences (2024)
Somesh Gupta, Weizhen Ji, Jeisac Guzman-Rivera, Abhilasha Madhvi, Tracy Andrews, Benjamin Richlin, Christian Suarez, Sunanda Gaur, William Cuddy, Aalok R Singh, Hulya Bukulmez, David Kaelber, Yukiko Kimura, Usha Ganapathi, Ioannis E Michailidis, Rahul Ukey, Sandra Moroso-Fela, John K Kuster, Myriam Casseus, Jason Roy, Lawrence C Kleinman, Daniel B Horton, Saquib Ali Lakhani, Maria Laura Gennaro
A genetically modulated Toll-like-receptor-tolerant phenotype in peripheral blood cells of children with multisystem inflammatory syndrome. medRxiv : the preprint server for health sciences (2024)
Somesh Gupta, Weizhen Ji, Jeisac Guzman-Rivera, Abhilasha Madhvi, Tracy Andrews, Benjamin Richlin, Christian Suarez, Sunanda Gaur, William Cuddy, Aalok R Singh, Hulya Bukulmez, David Kaelber, Yukiko Kimura, Usha Ganapathi, Ioannis E Michailidis, Rahul Ukey, Sandra Moroso-Fela, John K Kuster, Myriam Casseus, Jason Roy, Lawrence C Kleinman, Daniel B Horton, Saquib Ali Lakhani, Maria Laura Gennaro
A genetically modulated Toll-like-receptor-tolerant phenotype in peripheral blood cells of children with multisystem inflammatory syndrome. medRxiv : the preprint server for health sciences (2024)
Ebba Alkhunaizi, Nicole Martin, Angie C Jelin, Mara Rosner, Diana J Bailey, Laurie A Steiner, Saquib Ali Lakhani, Weizhen Ji, Philip J Katzman, Katherine R Forster, Olga Jarinova, Patrick Shannon, David Chitayat, null null
Fetal akinesia deformation sequence syndrome associated with recessive TTN variants. American journal of medical genetics. Part A (2022)
Ebba Alkhunaizi, Nicole Martin, Angie C Jelin, Mara Rosner, Diana J Bailey, Laurie A Steiner, Saquib Ali Lakhani, Weizhen Ji, Philip J Katzman, Katherine R Forster, Olga Jarinova, Patrick Shannon, David Chitayat, null null
Fetal akinesia deformation sequence syndrome associated with recessive TTN variants. American journal of medical genetics. Part A 191 (3) (2022)
Ebba Alkhunaizi, Nicole Martin, Angie C Jelin, Mara Rosner, Diana J Bailey, Laurie A Steiner, Saquib Ali Lakhani, Weizhen Ji, Philip J Katzman, Katherine R Forster, Olga Jarinova, Patrick Shannon, David Chitayat, null null
Fetal akinesia deformation sequence syndrome associated with recessive TTN variants. American journal of medical genetics. Part A 191 (3) (2022)
Ebba Alkhunaizi, Nicole Martin, Angie C Jelin, Mara Rosner, Diana J Bailey, Laurie A Steiner, Saquib Ali Lakhani, Weizhen Ji, Philip J Katzman, Katherine R Forster, Olga Jarinova, Patrick Shannon, David Chitayat, null null
Fetal akinesia deformation sequence syndrome associated with recessive TTN variants. American journal of medical genetics. Part A 191 (3) (2022)
Ebba Alkhunaizi, Nicole Martin, Angie C Jelin, Mara Rosner, Diana J Bailey, Laurie A Steiner, Saquib Ali Lakhani, Weizhen Ji, Philip J Katzman, Katherine R Forster, Olga Jarinova, Patrick Shannon, David Chitayat, null null
Fetal akinesia deformation sequence syndrome associated with recessive TTN variants. American journal of medical genetics. Part A 191 (3) (2022)
Ebba Alkhunaizi, Nicole Martin, Angie C Jelin, Mara Rosner, Diana J Bailey, Laurie A Steiner, Saquib Ali Lakhani, Weizhen Ji, Philip J Katzman, Katherine R Forster, Olga Jarinova, Patrick Shannon, David Chitayat, null null
Fetal akinesia deformation sequence syndrome associated with recessive TTN variants. American journal of medical genetics. Part A 191 (3) (2022)
Samir Al-Ali, Lauren Jeffries, E Vincent S Faustino, Weizhen Ji, Emily Mis, Monica Konstantino, Cynthia Zerillo, Yong-Hui Jiang, Michele Spencer-Manzon, Allen Bale, Hui Zhang, Julie McGlynn, James M McGrath, Thierry Tremblay, Nina N Brodsky, Carrie L Lucas, Richard Pierce, Engin Deniz, Mustafa K Khokha, Saquib Ali Lakhani
A retrospective cohort analysis of the Yale pediatric genomics discovery program. American journal of medical genetics. Part A 188 (10) (2022)
Ebba Alkhunaizi, Nicole Martin, Angie C Jelin, Mara Rosner, Diana J Bailey, Laurie A Steiner, Saquib Ali Lakhani, Weizhen Ji, Philip J Katzman, Katherine R Forster, Olga Jarinova, Patrick Shannon, David Chitayat, null null
Fetal akinesia deformation sequence syndrome associated with recessive TTN variants. American journal of medical genetics. Part A (2022)
Emily K Mis, Annalisa G Sega, Rebecca H Signer, Tracy Cartwright, Weizhen Ji, Julian A Martinez, Stanley F Nelson, Christina G S Palmer, Hane Lee, Thomas Mitzelfelt, Monica Konstantino, null null, Lauren Jeffries, Mustafa K Khokha, Elysa Marco, Martin G Martin, Saquib Ali Lakhani
Expansion of NEUROD2 phenotypes to include developmental delay without seizures. American journal of medical genetics. Part A 185 (4) (2021)
Maliheh Najari Beidokhti, Alexander C Bertalovitz, Weizhen Ji, Jorge McCormack, Lauren Jeffries, Emily Sempou, Mustafa K Khokha, Thomas V McDonald, Saquib Ali Lakhani
Functional testing for variant prioritization in a family with long QT syndrome. Molecular genetics and genomics : MGG 296 (4) (2021)
Emily K Mis, Samir Al-Ali, Weizhen Ji, Michele Spencer-Manzon, Monica Konstantino, Mustafa K Khokha, Lauren Jeffries, Saquib Ali Lakhani
The latest FADS: Functional analysis of GLDN patient variants and classification of GLDN-associated AMC as a type of viable fetal akinesia deformation sequence. American journal of medical genetics. Part A 182 (10) (2020)
Sonia Amabile, Lauren Jeffries, James M McGrath, Weizhen Ji, Michele Spencer-Manzon, Hui Zhang, Saquib Ali Lakhani
DYNC1H1-related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants. American journal of medical genetics. Part A 182 (9) (2020)
Jonathan Marquez, Nina Mann, Kathya Arana, Engin Deniz, Weizhen Ji, Monica Konstantino, Emily K Mis, Charu Deshpande, Lauren Jeffries, Julie McGlynn, Hannah Hugo, Eugen Widmeier, Martin Konrad, Velibor Tasic, Raffaella Morotti, Julia Baptista, Sian Ellard, Saquib Ali Lakhani, Friedhelm Hildebrandt, Mustafa K Khokha
DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes. Journal of medical genetics 58 (7) (2020)
Nina N Brodsky, Oksana Boyarchuk, Tetyana Kovalchuk, Tetyana Hariyan, Andrew Rice, Weizhen Ji, Mustafa K Khokha, Saquib Ali Lakhani, Carrie L Lucas
Novel compound heterozygous variants in NHLRC2 in a patient with FINCA syndrome. Journal of human genetics 65 (10) (2020)
Fatima AbuBakr, Lauren Jeffries, Weizhen Ji, James M McGrath, Saquib Ali Lakhani
A novel variant in MAP3K7 associated with an expanded cardiospondylocarpofacial syndrome phenotype. Cold Spring Harbor molecular case studies 6 (3) (2020)
Catherine Kiraly-Borri, Gareth Jevon, Weizhen Ji, Lauren Jeffries, Jamie-Lee Ricciardi, Monica Konstantino, Kate G Ackerman, Saquib Ali Lakhani
Siblings with lethal primary pulmonary hypoplasia and compound heterozygous variants in the AARS2 gene: further delineation of the phenotypic spectrum. Cold Spring Harbor molecular case studies 5 (3) (2019)
Walaa Elfar, Erkka Järvinen, Weizhen Ji, Johanna Mosorin, Annalisa G Sega, Alina C Iuga, Steven J Lobritto, Monica Konstantino, Albert Chan, Moshe Finel, Saquib Ali Lakhani
A Novel Pathogenic UGT1A1 Variant in a Sudanese Child with Type 1 Crigler-Najjar Syndrome. Drug metabolism and disposition: the biological fate of chemicals 47 (1) (2018)
Annalisa G Sega, Emily K Mis, Kristin Lindstrom, Saadet Mercimek-Andrews, Weizhen Ji, Megan T Cho, Jane Juusola, Monica Konstantino, Lauren Jeffries, Mustafa K Khokha, Saquib Ali Lakhani
De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy. Journal of medical genetics 56 (2) (2018)

Saquib Ali Lakhani.css-eqlu8i{font-size:small;padding-left:4px;} (Saquib A Lakhani, Saquib Lakhani)

Publication Activity (10 Years)

Top Topics

Top Venues

Saquib Ali Lakhani (Saquib A Lakhani, Saquib Lakhani)