NFDI4DS | UHH-SEMS - Publication Details

Lauren C. Briere

ORCID: 0000-0002-6599-2907

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A5104385600

Research Areas

Genomics and Rare Diseases
Genetics and Neurodevelopmental Disorders
Cellular transport and secretion
Genomic variations and chromosomal abnormalities
RNA regulation and disease
RNA modifications and cancer
RNA Research and Splicing
Congenital heart defects research
Mitochondrial Function and Pathology
Lysosomal Storage Disorders Research
RNA and protein synthesis mechanisms
Neurogenetic and Muscular Disorders Research
Ubiquitin and proteasome pathways
Cancer-related gene regulation
ATP Synthase and ATPases Research
Endoplasmic Reticulum Stress and Disease
Epigenetics and DNA Methylation
Metabolism and Genetic Disorders
Immunodeficiency and Autoimmune Disorders
Cancer Genomics and Diagnostics
Biomedical Text Mining and Ontologies
Retinal Development and Disorders
CRISPR and Genetic Engineering
Genomics and Chromatin Dynamics
Muscle Physiology and Disorders

Massachusetts General Hospital
2017-2024

Harvard University
2018-2023

Center for Genomic Science
2023

University of California System
2022

Stanford University
2021

Brigham and Women's Hospital
2021

Boston Children's Hospital
2021

IIT@Harvard
2020-2021

CHU Dijon Bourgogne
2018

NIH Common Fund
2017

MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome

OPENALEX - Publications

Julia Wang Rami Al‐Ouran Yanhui Hu Seon‐Young Kim Ying‐Wooi Wan and 95 more

10.1016/j.ajhg.2017.04.010 article EN publisher-specific-oa The American Journal of Human Genetics 2017-05-11

Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans

OPENALEX - Publications

Victoria E. Rael Julian A. Yano John Huizar Leianna C. Slayden Madeleine A. Weiss and 95 more

Nucleic acid-sensing Toll-like receptors (TLR) 3, 7/8, and 9 are key innate immune sensors whose activities must be tightly regulated to prevent systemic autoimmune or autoinflammatory disease virus-associated immunopathology. Here, we report a systematic scanning-alanine mutagenesis screen of all cytosolic luminal residues the TLR chaperone protein UNC93B1, which identified both negative positive regulatory regions affecting TLR3, TLR7, TLR9 responses. We subsequently two families harboring...

10.1084/jem.20232005 article EN cc-by The Journal of Experimental Medicine 2024-05-23

The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease

OPENALEX - Publications

Rachel Ramoni John J. Mulvihill David R. Adams Patrick Allard Euan A. Ashley and 95 more

10.1016/j.ajhg.2017.01.006 article EN publisher-specific-oa The American Journal of Human Genetics 2017-02-01

A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3

OPENALEX - Publications

Hsiao‐Tuan Chao Mariska Davids Elizabeth A. Burke John Pappas Jill A. Rosenfeld and 95 more

10.1016/j.ajhg.2016.11.018 article EN publisher-specific-oa The American Journal of Human Genetics 2016-12-23

IRF2BPL Is Associated with Neurological Phenotypes

OPENALEX - Publications

Paul C. Marcogliese Vandana Shashi Rebecca C. Spillmann Nicholas Stong Jill A. Rosenfeld and 95 more

10.1016/j.ajhg.2018.07.006 article EN publisher-specific-oa The American Journal of Human Genetics 2018-07-26

De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism

OPENALEX - Publications

María J. Guillen Sacoto Iva A. Tchasovnikarova Erin Torti Cara Forster E. Hallie Andrew and 42 more

10.1016/j.ajhg.2020.06.013 article EN publisher-specific-oa The American Journal of Human Genetics 2020-07-20

Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification

OPENALEX - Publications

Elena‐Raluca Nicoli Mary Weston Mary E. Hackbarth Alissa J. Becerril Austin Larson and 95 more

10.1016/j.ajhg.2019.04.008 article EN publisher-specific-oa The American Journal of Human Genetics 2019-05-30

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

OPENALEX - Publications

Vandana Shashi Loren D.M. Peña Katherine Kim Barbara K. Burton Maja Hempel and 95 more

10.1016/j.ajhg.2016.08.017 article EN publisher-specific-oa The American Journal of Human Genetics 2016-10-01

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

OPENALEX - Publications

Monika Oláhová Wan Hee Yoon Kyle Thompson Sharayu Jangam Liliana Fernández and 95 more

ATP synthase, H+ transporting, mitochondrial F1 complex, δ subunit (ATP5F1D; formerly ATP5D) is a of synthase and plays an important role in coupling proton translocation production. Here, we describe two individuals, each with homozygous missense variants ATP5F1D, who presented episodic lethargy, metabolic acidosis, 3-methylglutaconic aciduria, hyperammonemia. Subject 1, for c.245C>T (p.Pro82Leu), recurrent decompensation starting the neonatal period, subject 2, c.317T>G (p.Val106Gly),...

10.1016/j.ajhg.2018.01.020 article EN cc-by The American Journal of Human Genetics 2018-02-23

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay

OPENALEX - Publications

Keren Machol Justine Rousseau Sophie Ehresmann Thomas X. Garcia Thi Tuyet Mai Nguyen and 95 more

SMARCC2 (BAF170) is one of the invariable core subunits ATP-dependent chromatin remodeling BAF (BRG1-associated factor) complex and plays a crucial role in embryogenesis corticogenesis. Pathogenic variants genes encoding other components have been associated with intellectual disability syndromes. Despite its significant biological role, not directly human disease previously. Using whole-exome sequencing web-based gene-matching program, we identified 15 individuals variable degrees...

10.1016/j.ajhg.2018.11.007 article EN publisher-specific-oa The American Journal of Human Genetics 2018-12-20

A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative

OPENALEX - Publications

Vandana Shashi Kelly Schoch Rebecca C. Spillmann Heidi Cope Queenie K.‐G. Tan and 95 more

10.1038/s41436-018-0044-2 article EN publisher-specific-oa Genetics in Medicine 2018-06-15

Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate–binding region

OPENALEX - Publications

McKenna Kelly Meredith Park Ivana Mihalek Anne Rochtus Marie Gramm and 18 more

To characterize the phenotypic spectrum associated with GNAO1 variants and establish genotype-protein structure-phenotype relationships.

10.1111/epi.14653 article EN Epilepsia 2019-01-25

De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation

OPENALEX - Publications

Dongxue Mao Chloe M. Reuter Maura Ruzhnikov Anita Beck Emily Farrow and 95 more

10.1016/j.ajhg.2020.02.016 article EN publisher-specific-oa The American Journal of Human Genetics 2020-03-19

Gain-of-function mutations inALPK1cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome

OPENALEX - Publications

Christina Torres Kozycki Shilpa Kodati Laryssa A. Huryn Hongying Wang Blake M. Warner and 65 more

To test the hypothesis that ROSAH (retinal dystrophy, optic nerve oedema, splenomegaly, anhidrosis and headache) syndrome, caused by dominant mutation in

10.1136/annrheumdis-2022-222629 article EN cc-by Annals of the Rheumatic Diseases 2022-07-22

Bi-allelic variants in INTS11 are associated with a complex neurological disorder

OPENALEX - Publications

Burak Tepe Erica L. Macke Marcello Niceta Monika Weisz Hubshman Oguz Kanca and 95 more

10.1016/j.ajhg.2023.03.012 article EN publisher-specific-oa The American Journal of Human Genetics 2023-04-12

TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system

OPENALEX - Publications

Shyam K. Akula Jack H. Marciano Youngshin Lim David Exposito-Alonso Norma K. Hylton and 95 more

Sonic hedgehog signaling regulates processes of embryonic development across multiple tissues, yet factors regulating context-specific Shh remain poorly understood. Exome sequencing families with polymicrogyria (disordered cortical folding) revealed individuals biallelic deleterious variants in TMEM161B , which encodes a multi-pass transmembrane protein unknown function. Tmem161b null mice demonstrated holoprosencephaly, craniofacial midline defects, eye and spinal cord patterning changes...

10.1073/pnas.2209964120 article EN cc-by Proceedings of the National Academy of Sciences 2023-01-20

SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia

OPENALEX - Publications

Siddharth Srivastava Hagar Mor Shaked Kenneth Gable Sita D. Gupta Xueyang Pan and 95 more

Abstract Sphingolipids are a diverse family of lipids with critical structural and signalling functions in the mammalian nervous system, where they abundant myelin membranes. Serine palmitoyltransferase, enzyme that catalyses rate-limiting reaction sphingolipid synthesis, is composed multiple subunits including an activating subunit, SPTSSA. both essential cytotoxic their synthesis must therefore be tightly regulated. Key to homeostatic regulation ORMDL proteins bound serine...

10.1093/brain/awac460 article EN public-domain Brain 2023-01-30

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

OPENALEX - Publications

Maimuna S. Paul Sydney L. Michener Hongling Pan Hiuling Chan Jessica M. Pfliger and 95 more

10.1016/j.ajhg.2023.12.004 article EN publisher-specific-oa The American Journal of Human Genetics 2024-01-01

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

OPENALEX - Publications

Oguz Kanca Jonathan C. Andrews Pei-Tseng Lee Chirag Patel Stephen R. Braddock and 95 more

10.1016/j.ajhg.2019.06.014 article EN publisher-specific-oa The American Journal of Human Genetics 2019-07-18

Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases

OPENALEX - Publications

Loren D.M. Peña Yong‐Hui Jiang Kelly Schoch Rebecca C. Spillmann Sophie Nicole and 95 more

10.1038/gim.2017.128 article EN publisher-specific-oa Genetics in Medicine 2017-09-14

Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients

OPENALEX - Publications

Lane Fitzsimmons Maria T. Acosta David R. Adams Ben Afzali Ali Al-Beshri and 95 more

The mechanistic pathways that give rise to the extreme symptoms exhibited by rare disease patients are complex, heterogeneous, and difficult discern. Understanding these mechanisms is critical for developing treatments address underlying causes of diseases rather than merely presenting symptoms. Moreover, same dysfunctional series interrelated implicated in recessive may also lead milder potentially preventable carriers general population. Seizures a common phenotype can result from diverse...

10.1186/s13040-024-00418-5 article EN cc-by BioData Mining 2025-01-17

A Call to Action

OPENALEX - Publications

Richard L. Haspel Ramy Arnaout Lauren C. Briere Sibel Kantarci Karen Marchand and 4 more

Genomics and "medical sequencing" will revolutionize clinical laboratory diagnostics as the foundation for new era of personalized medicine. However, medical profession lags far behind technology business communities in recognizing preparing this change. Pathologists must take lead application genomics technologies, including whole-genome sequencing, to As a critical first step leading change, we have established first-in-the-nation resident curriculum Our goal is catalyze adoption similar...

10.1309/ajcpn6q1qkclykxm article EN American Journal of Clinical Pathology 2010-05-14

A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay

OPENALEX - Publications

Kelly Schoch Linyan Meng Szabolcs Szelinger David Bearden Asbjørg Stray‐Pedersen and 95 more

10.1016/j.ajhg.2016.12.013 article EN publisher-specific-oa The American Journal of Human Genetics 2017-01-26

De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Callosum, Axon, Cardiac, Ocular, and Genital Defects

OPENALEX - Publications

Andrea Accogli Sara Calabretta Judith St‐Onge Nassima Boudrahem‐Addour Alexandre Dionne‐Laporte and 95 more

10.1016/j.ajhg.2019.09.005 article EN publisher-specific-oa The American Journal of Human Genetics 2019-10-01

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