Kelsey Robinson; Sunil K. Singh; Rachel B. Walkup; Dorelle V. Fawwal; Kendra M. Vilfort; Amanda Koloskee; Azeez Fashina; Wasiu Lanre Adeyemo; Terri H. Beaty; Azeez Butali; Carmen J. Buxó; Wendy K. Chung; David J. Cutler; Michael P. Epstein; Brooklynn Gasser; Lord J.J. Gowans; Jacqueline T. Hecht; Anuj Mankad; Lina Moreno Uribe; Daryl A. Scott; Gary M. Shaw; Mary Ann Thomas; Seth M. Weinberg; Eric C. Liao; Harrison Brand; Mary L. Marazita; Robert J. Lipinski; Jeffrey C. Murray; Robert A. Cornell; Elizabeth J. Leslie-Clarkson

Examination of piperonyl butoxide developmental toxicity as a Sonic hedgehog pathway inhibitor targeting limb and palate morphogenesis

REPRODUCTIVE TOXICOLOGY

IF2.8

2024-12-010

PRE

Disruption of DNA methylation-mediated cranial neural crest proliferation and differentiation causes orofacial clefts in mice

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

IF9.1

2024-01-091

OAAI

Trio-based GWAS identifies novel associations and subtype-specific risk factors for cleft palate

HUMAN GENETICS AND GENOMICS ADVANCES

IF3.6

2023-10-012

OAAI

Gene-environment interactions: aligning birth defects research with complex etiology

DEVELOPMENT

IF3.6

2020-07-1731

OAAI

Genome-wide Enrichment of De Novo Coding Mutations in Orofacial Cleft Trios

口面裂三重奏中从头编码突变的全基因组富集

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2020-07-0159

OAAI

Bishop, Madison R.; Perez, Kimberly K. Diaz; Sun, Miranda; Ho, Samantha; Chopra, Pankaj; Mukhopadhyay, Nandita; Hetmanski, Jacqueline B.; Taub, Margaret A.; Moreno-Uribe, Lina M.; Valencia-Ramirez, Luz Consuelo; Restrepo Muneton, Claudia P.; Wehby, George; Hecht, Jacqueline T.; Deleyiannis, Frederic; Weinberg, Seth M.; Wu-Chou, Yah Huei; Chen, Philip K.; Brand, Harrison; Epstein, Michael P.; Ruczinski, Ingo; Murray, Jeffrey C.; Beaty, Terri H.; Feingold, Eleanor; Lipinski, Robert J.; Cutler, David J.; Marazita, Mary L.; Leslie, Elizabeth J.

Prenatal exposure to pesticides and risk for holoprosencephaly: a case-control study

ENVIRONMENTAL HEALTH

IF5.9

2020-06-0825

OAAI

Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2020-01-0133

OAAI

Hughes, Joel J.; Alkhunaizi, Ebba; Kruszka, Paul; Pyle, Louise C.; Grange, Dorothy K.; Berger, Seth I.; Payne, Katelyn K.; Masser-Frye, Diane; Hu, Tommy; Christie, Michelle R.; Clegg, Nancy J.; Everson, Joshua L.; Martinez, Ariel F.; Walsh, Laurence E.; Bedoukian, Emma; Jones, Marilyn C.; Harris, Catharine Jean; Riedhammer, Korbinian M.; Choukair, Daniela; Fechner, Patricia Y.; Rutter, Meilan M.; Hufnagel, Sophia B.; Roifman, Maian; Kletter, Gad B.; Delot, Emmanuele; Vilain, Eric; Lipinski, Robert J.; Vezina, Chad M.; Muenke, Maximilian; Chitayat, David

Developmental Toxicity Assessment of Piperonyl Butoxide Exposure Targeting Sonic Hedgehog Signaling and Forebrain and Face Morphogenesis in the Mouse: An in Vitro and in Vivo Study

ENVIRONMENTAL HEALTH PERSPECTIVES

IF9.8

2019-10-0126

OAAI

Cohesin complex-associated holoprosencephaly

Cohesin复合物相关前脑全畸形

BRAIN

IF11.7

2019-07-2345

OAAI

Kruszka, Paul; Berger, Seth, I; Casa, Valentina; Dekker, Mike R.; Gaesser, Jenna; Weiss, Karin; Martinez, Ariel F.; Murdock, David R.; Louie, Raymond J.; Prijoles, Eloise J.; Lichty, Angie W.; Brouwer, Oebele F.; Zonneveld-Huijssoon, Evelien; Stephan, Mark J.; Hogue, Jacob; Hu, Ping; Tanima-Nagai, Momoko; Everson, Joshua L.; Prasad, Chitra; Cereda, Anna; Iascone, Maria; Schreiber, Allison; Zurcher, Vickie; Corsten-Janssen, Nicole; Escobar, Luis; Clegg, Nancy J.; Delgado, Mauricio R.; Hajirnis, Omkar; Balasubramanian, Meena; Kayserili, Hulya; Deardorff, Matthew; Poot, Raymond A.; Wendt, Kerstin S.; Lipinski, Robert J.; Muenke, Maximilian

A CCR4-NOT Transcription Complex, Subunit 1, CNOT1, Variant Associated with Holoprosencephaly

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2019-05-0130

OAAI

Identification of sonic hedgehog-regulated genes and biological processes in the cranial neural crest mesenchyme by comparative transcriptomics

BMC GENOMICS

IF3.7

2018-06-2716

OAAI

Peripartum Fluoxetine Reduces Maternal Trabecular Bone After Weaning and Elevates Mammary Gland Serotonin and PTHrP

ENDOCRINOLOGY