Publications by authors named "Bhavi P Modi"

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ASXL1 deficiency causes epigenetic dysfunction, combined immunodeficiency, and EBV-associated lymphoma.
Maggie P Fu, Mehul Sharma, Pariya Yousefi, Sarah M Merrill, Ryan Tan, Bhavi P Modi

J Exp Med· October 2025

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Gain-of-function MARK4 variant associates with pediatric neurodevelopmental disorder and dysmorphism.
Simran Samra, Mehul Sharma, Maryam Vaseghi-Shanjani, Kate L Del Bel, Loryn Byres, Bhavi P Modi

HGG Adv· January 2024

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Human complete NFAT1 deficiency causes a triad of joint contractures, osteochondromas, and B-cell malignancy.
Mehul Sharma, Maggie P Fu, Henry Y Lu, Ashish A Sharma, Bhavi P Modi

Blood· October 2022

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Inborn Errors of Immunity Associated With Type 2 Inflammation in the USIDNET Registry.
Kelsey L Smith, Darlene Dai, Bhavi P Modi, Rahnuma Sara, Elizabeth Garabedian

Front Immunol· May 2022

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Inborn errors of immunity manifesting as atopic disorders.
Maryam Vaseghi-Shanjani, Kelsey L Smith, Rahnuma J Sara, Bhavi P Modi, Anna Branch

J Allergy Clin Immunol· November 2021

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Adult GAMT deficiency: A literature review and report of two siblings.
Bhavi P Modi, Haq Nawaz Khan, Robin van der Lee, Muhammad Wasim, Charlotte A Haaxma

Mol Genet Metab Rep· June 2021

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Exome sequencing enables diagnosis of X-linked hypohidrotic ectodermal dysplasia in patient with eosinophilic esophagitis and severe atopy.
Bhavi P Modi, Kate L Del Bel, Susan Lin, Mehul Sharma, Phillip A Richmond

Allergy Asthma Clin Immunol· January 2021

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Clinical IRAK4 deficiency caused by homozygosity for the novel (c.1049delG, p.Gly350Glufs*15) variant.
Alicia Jia, Elliot James, Henry Y Lu, Mehul Sharma, Bhavi P Modi

Cold Spring Harb Mol Case Stud· June 2020

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Human DENND1A.V2 Drives Expression and Androgen Production in Mouse Ovaries and Adrenals.
Maria E Teves, Bhavi P Modi, Rewa Kulkarni, Angela X Han, Jamaia S Marks

Int J Mol Sci· April 2020

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JASPAR 2020: update of the open-access database of transcription factor binding profiles.
Oriol Fornes, Jaime A Castro-Mondragon, Aziz Khan, Robin van der Lee, Xi Zhang, Bhavi P Modi

Nucleic Acids Res· January 2020

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miRNA Profiling Reveals miRNA-130b-3p Mediates DENND1A Variant 2 Expression and Androgen Biosynthesis.
Jan M McAllister, Angela X Han, Bhavi P Modi, Maria E Teves, Grace R Mavodza

Endocrinology· August 2019

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Discovery of rare ancestry-specific variants in the fetal genome that confer risk of preterm premature rupture of membranes (PPROM) and preterm birth.
Bhavi P Modi, Hardik I Parikh, Maria E Teves, Rewa Kulkarni, Jiang Liyu

BMC Med Genet· October 2018

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Spontaneous preterm birth: advances toward the discovery of genetic predisposition.
Jerome F Strauss, Roberto Romero, Nardhy Gomez-Lopez, Hannah Haymond-Thornburg, Bhavi P Modi

Am J Obstet Gynecol· March 2018

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Mutations in fetal genes involved in innate immunity and host defense against microbes increase risk of preterm premature rupture of membranes (PPROM).
Bhavi P Modi, Maria E Teves, Laurel N Pearson, Hardik I Parikh, Hannah Haymond-Thornburg

Mol Genet Genomic Med· November 2017

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Rare mutations and potentially damaging missense variants in genes encoding fibrillar collagens and proteins involved in their production are candidates for risk for preterm premature rupture of membranes.
Bhavi P Modi, Maria E Teves, Laurel N Pearson, Hardik I Parikh, Piya Chaemsaithong

PLoS One· August 2017

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Expression patterns of the chromosome 21 MicroRNA cluster (miR-99a, miR-125b and let-7c) in chorioamniotic membranes.
Bhavi P Modi, Sonya Washington, Scott W Walsh, Colleen Jackson-Cook, Kellie J Archer

Placenta· January 2017

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The role of variants regulating metformin transport and action in women with polycystic ovary syndrome.
Cindy T Pau, Kai I Cheang, Bhavi P Modi, Thushiga Kasippillai, Candace C Keefe

Pharmacogenomics· November 2016

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Functional genomics of PCOS: from GWAS to molecular mechanisms.
Jan M McAllister, Richard S Legro, Bhavi P Modi, Jerome F Strauss

Trends Endocrinol Metab· March 2015

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