A. Hernandez-Garcia

发表

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.

Meghan C Towne, Carol J. Saunders, B. V. van Bon, 2021, American journal of human genetics.

Impact of preimmunization on adenoviral vector expression and toxicity in a subcutaneous mouse cancer model.

E. B. Butler, M. Ittmann, T. Thompson, 2002, Molecular therapy : the journal of the American Society of Gene Therapy.

ATP release after partial hepatectomy regulates liver regeneration in the rat.

D. Samuel, T. Tordjmann, L. Combettes, 2010, Journal of hepatology.

Correction: PIAS1 Is a GATA4 SUMO Ligase That Regulates GATA4-Dependent Intestinal Promoters Independent of SUMO Ligase Activity and GATA4 Sumoylation

D. Berger, Mao Zhang, N. Belaguli, 2012, PLoS ONE.

Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH

J. Rosenfeld, C. Shaw, S. Lalani, 2021, Journal of Medical Genetics.

An Allelic Series of Mice Reveals a Role for RERE in the Development of Multiple Organs Affected in Chromosome 1p36 Deletions

M. Justice, D. Stockton, Brendan H. Lee, 2013, PloS one.

FOXP1 Haploinsufficiency Contributes to the Development of Congenital Diaphragmatic Hernia

C. Shaw, P. Donahoe, I. Campbell, 2021, Journal of Pediatric Genetics.

Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data

J. Rosenfeld, C. Shaw, Marilyn C. Jones, 2022, American journal of medical genetics. Part A.

RERE deficiency leads to decreased expression of GATA4 and the development of ventricular septal defects

R. Schwartz, Wei Yu, D. Scott, 2018, Disease Models & Mechanisms.

De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions.

J. Rosenfeld, B. D. de Vries, E. Zackai, 2016, American journal of human genetics.

OTUD5 Variants Associated With X-Linked Intellectual Disability and Congenital Malformation

Mahshid S. Azamian, S. Lalani, T. Ogata, 2021, Frontiers in Cell and Developmental Biology.

P2Y2 purinergic receptor activation is essential for efficient hepatocyte proliferation in response to partial hepatectomy.

N. Vigneswaran, Y. Mei, S. Karpen, 2014, American journal of physiology. Gastrointestinal and liver physiology.

Prioritization of Candidate Genes for Congenital Diaphragmatic Hernia in a Critical Region on Chromosome 4p16 using a Machine-Learning Algorithm

C. Shaw, J. Lupski, D. Muzny, 2018, Journal of Pediatric Genetics.

SOX7 deficiency causes ventricular septal defects through its effects on endocardial-to-mesenchymal transition and the expression of Wnt4 and Bmp2

R. Lanz, Yumei Li, Rui Chen, 2020, bioRxiv.

Mouse model reveals the role of SOX7 in the development of congenital diaphragmatic hernia associated with recurrent deletions of 8p23.1.

M. Dickinson, D. Tibboel, Brendan H. Lee, 2012, Human molecular genetics.

FBN1 contributing to familial congenital diaphragmatic hernia

Alexander Hanbo Li, J. Lupski, R. Gibbs, 2015, American journal of medical genetics. Part A.

Identification of Critical Regions and Candidate Genes for Cardiovascular Malformations and Cardiomyopathy Associated with Deletions of Chromosome 1p36

S. Cheung, B. Morrow, S. Lalani, 2014, PloS one.

Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO

Mahshid S. Azamian, J. Rosenfeld, A. Breman, 2016, Journal of Medical Genetics.

C. Bishop, M. Justice, D. Stockton, 2013, PloS one.

Further delineation of the phenotypic spectrum associated with hemizygous loss‐of‐function variants in NONO

J. Rosenfeld, M. Patterson, Yaping Yang, 2019, American journal of medical genetics. Part A.

Serum lead, cadmium, and zinc levels in newborns with neural tube defects from a polluted zone in Mexico.

A. Hernández-García, María de Lourdes Carrillo-Ponce, V. A. Martínez-Ordaz, 2004, Reproductive toxicology.

Early initiation of B‐vitamin supplementation may reduce symptoms and explain intrafamilial variability: Insights from two sibling pairs from the TANGO2 natural history study

Mahshid S. Azamian, S. Lalani, D. Scott, 2023, American journal of medical genetics. Part A.

Missense variants affecting the actin-binding domains of PLS3 cause X-linked congenital diaphragmatic hernia and body wall defects

C. Bult, P. Donahoe, P. Giampietro, 2021, medRxiv.

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Stephan J Sanders, R. Redon, J. Rosenfeld, 2019, American journal of human genetics.

The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia

Alexander Hanbo Li, J. Lupski, R. Gibbs, 2018, Human molecular genetics.

Sox7‐positive endothelial progenitors establish coronary arteries and govern ventricular compaction

C. Shaw, K. Red-Horse, P. Young, 2023, EMBO reports.

Contribution of LPP copy number and sequence changes to esophageal atresia, tracheoesophageal fistula, and VACTERL association

D. Tibboel, S. Lalani, Brendan H. Lee, 2012, American journal of medical genetics. Part A.

Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans

L. Potocki, A. Brusco, S. Keswani, 2021, American journal of medical genetics. Part A.

ATP release after partial hepatectomy regulates liver regeneration in the rat.

D. Samuel, T. Tordjmann, L. Combettes, 2010, Journal of hepatology.