Lauren Jeffries - Concepedia

Author

Lauren Jeffries

Also Known As

L JEFFRIES, L. Jeffries, Laurel A Cobban, Lauren A. Jeffries, Lauren Jeffries, Orpa Jean-Marie, Undiagnosed Diseases Network

Publications

386

Citations

H-Index

Concepts

All Affiliations

Yale University Phoenix Children's Hospital University of Toronto Genomics (United Kingdom)The University of Western Australia

About

Lauren Jeffries is an author at Yale University specializing in genetics, medicine, and molecular genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	2	2	32
2	Natural Sciences	1	1	21
3	Biochemistry	1	1	21
4	Genetic Medicine	1	1	21
5	Metabolism	1	1	21

Lauren Jeffries

Publications

268

Citations

H-Index

Page 1

	Year	Citations
De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy Annalisa G. Sega, Emily K. Mis, Kristin Lindstrom, Journal of Medical Genetics	2018	44
Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons Karen Runge, Rémi Mathieu, Stéphane Bugeon, Molecular Psychiatry	2021	44
A novel <i>SAMD9</i> mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history Lauren Jeffries, Hirohito Shima, Weizhen Ji, American Journal of Medical Genetics Part A	2017	34
Familial Dilated Cardiomyopathy Associated With a Novel Combination of Compound Heterozygous TNNC1 Variants Maicon Landim-Vieira, Jamie R. Johnston, Weizhen Ji, Frontiers in Physiology	2020	31
CFAP45, a heterotaxy and congenital heart disease gene, affects cilia stability Engin Deniz, Mehreen Pasha, María Elena Guerra, Developmental Biology	2023	27
A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder Justin O. Szot, Hartmut Cuny, Ella MMA Martin, Journal of Clinical Investigation Metabolic DisorderGeneticsNicotinamide Adenine DinucleotideMetabolic SignatureDisease Gene Identification	2024	21
Siblings with lethal primary pulmonary hypoplasia and compound heterozygous variants in the <i>AARS2</i> gene: further delineation of the phenotypic spectrum Cathy Kiraly‐Borri, Gareth Jevon, Weizhen Ji, Molecular Case Studies	2019	16
Pharmacogenetic Testing for Analgesic Adverse Effects Renee C.B. Manworren, Lauren Jeffries, Ashley Pantaleao, Clinical Journal of Pain	2015	14
A novel variant in <i>MAP3K7</i> associated with an expanded cardiospondylocarpofacial syndrome phenotype Fatima AbuBakr, Lauren Jeffries, Weizhen Ji, Molecular Case Studies	2020	13
<i>DLG5</i> variants are associated with multiple congenital anomalies including ciliopathy phenotypes Jonathan Marquez, Nina Mann, Kathya Arana, Journal of Medical Genetics	2020	13

Page 1