BAC transgenic analysis reveals enhancers sufficient for Hoxa13 and neighborhood gene expression in mouse embryonic distal limbs and genital bud

par Lehoczky, Jessica A., Innis, Jeffrey W.
Publié 2008

Expanded HOXA13 Polyalanine Tracts in the Monotreme

par Lehoczky, Jessica A., Innis, Jeffrey W.
Publié 2008

Interstitial microdeletion of the 1p34.3p34.2 region

par Jacher, Joseph E., Innis, Jeffrey W.
Publié dans Mol Genet Genomic Med (2018)

A genomic approach to the identification and characterization of HOXA13 functional binding elements

par McCabe, Colleen D., Innis, Jeffrey W.
Publié 2005

Identification and prevention of a GC content bias in SAGE libraries

par Margulies, Elliott H., Kardia, Sharon L. R., Innis, Jeffrey W.
Publié 2001

A Comparative Molecular Analysis of Developing Mouse Forelimbs and Hindlimbs Using Serial Analysis of Gene Expression (SAGE)

par Margulies, Elliott H., Kardia, Sharon L.R., Innis, Jeffrey W.
Publié 2001

A Novel Frameshift Mutation in Exon 23 of ATP7A (MNK) Results in Occipital Horn Syndrome and Not in Menkes Disease

par Dagenais, Susan L., Adam, Ayla N., Innis, Jeffrey W., Glover, Thomas W.
Publié 2001

Nine de novo duplications affecting both maternal and paternal chromosomes and an inherited 15q11.2 deletion, in a patient with developmental delay

par Tayeh, Marwan K, Rocco, Tracy, Ackley, Todd, Ernst, Leslie, Glover, Thomas, Innis, Jeffrey W
Publié dans Clin Case Rep (2015)

Group 13 HOX proteins interact with the MH2 domain of R-Smads and modulate Smad transcriptional activation functions independent of HOX DNA-binding capability

par Williams, Thomas M., Williams, Melissa E., Heaton, Joanne H., Gelehrter, Thomas D., Innis, Jeffrey W.
Publié 2005

Compound heterozygosity for loss-of-function FARSB variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related disease

par Antonellis, Anthony, Oprescu, Stephanie N., Griffin, Laurie B., Heider, Amer, Amalfitano, Andrea, Innis, Jeffrey W.
Publié dans Hum Mutat (2018)

A Complex 6p25 Rearrangement in a Child With Multiple Epiphyseal Dysplasia

par Bedoyan, Jirair K., Lesperance, Marci M., Ackley, Todd, Iyer, Ramaswamy K., Innis, Jeffrey W., Misra, Vinod K.
Publié dans Am J Med Genet A (2010)

Chromosome Rearrangements in Cornelia de Lange Syndrome (CdLS): Report of a der(3)t(3;12)(p25.3;p13.3) in Two Half Sibs With Features of CdLS and Review of Reported CdLS Cases With...

par DeScipio, Cheryl, Kaur, Maninder, Yaeger, Dinah, Innis, Jeffrey W., Spinner, Nancy B., Jackson, Laird G., Krantz, Ian D.
Publié dans Am J Med Genet A (2005)

Microcephaly, Intellectual Impairment, Bilateral Vesicoureteral Reflux, Distichiasis and Glomuvenous Malformations Associated with a 16q24.3 Contiguous Gene Deletion and a Glomulin...

par Butler, Matthew G., Dagenais, Susan L., Garcia-Perez, José L., Brouillard, Pascal, Vikkula, Miikka, Strouse, Peter, Innis, Jeffrey W., Glover, Thomas W.
Publié 2012

Exome Capture and Massively Parallel Sequencing Identifies a Novel HPSE2 Mutation in a Saudi Arabian Child with Ochoa (Urofacial) Syndrome

par Al Badr, Wisam, Al Bader, Suha, Otto, Edgar, Hildebrandt, Friedhelm, Ackley, Todd, Peng, Weiping, Xu, Jishu, Li, Jun, Owens, Kailey M., Bloom, David, Innis, Jeffrey W.
Publié 2011

Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis

par Saisawat, Pawaree, Tasic, Velibor, Vega-Warner, Virginia, Kehinde, Elijah O., Günther, Barbara, Airik, Rannar, Innis, Jeffrey W., Hoskins, Bethan E., Hoefele, Julia, Otto, Edgar A., Hildebrandt, Friedhelm
Publié 2011

Natural history of ROHHAD syndrome: development of severe insulin resistance and fatty liver disease over time

par Jalal Eldin, Abdel Wahab, Tombayoglu, Dilara, Butz, Laura, Affinati, Alison, Meral, Rasimcan, Ontan, Mehmet Selman, Walkovich, Kelly, Westerhoff, Maria, Innis, Jeffrey W., Parikh, Neehar D., Oral, Elif A.
Publié dans Clin Diabetes Endocrinol (2019)

Connexin 43 (GJA1) Mutations Cause the Pleiotropic Phenotype of Oculodentodigital Dysplasia

par Paznekas, William A., Boyadjiev, Simeon A., Shapiro, Robert E., Daniels, Otto, Wollnik, Bernd, Keegan, Catherine E., Innis, Jeffrey W., Dinulos, Mary Beth, Christian, Cathy, Hannibal, Mark C., Jabs, Ethylin Wang
Publié 2003

Transcriptome analysis of MBD5-associated neurodevelopmental disorder (MAND) neural progenitor cells reveals dysregulation of autism-associated genes

par Mullegama, Sureni V., Klein, Steven D., Williams, Stephen R., Innis, Jeffrey W., Probst, Frank J., Haldeman-Englert, Chad, Martinez-Agosto, Julian A., Yang, Ying, Tian, Yuchen, Elsea, Sarah H., Ezashi, Toshihiko
Publié dans Sci Rep (2021)

BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome

par Reis, Linda M., Tyler, Rebecca C., Schilter, Kala F., Abdul-Rahman, Omar, Innis, Jeffrey W., Kozel, Beth A., Schneider, Adele S., Bardakjian, Tanya M., Lose, Edward J., Martin, Donna M., Broeckel, Ulrich, Semina, Elena V.
Publié 2011

Potential association of LMNA-associated generalized lipodystrophy with juvenile dermatomyositis

par Sahinoz, Melis, Khairi, Shafaq, Cuttitta, Ashley, Brady, Graham F., Rupani, Amit, Meral, Rasimcan, Tayeh, Marwan K., Thomas, Peedikayil, Riebschleger, Meredith, Camelo-Piragua, Sandra, Innis, Jeffrey W., Bishr Omary, M., Michele, Daniel E., Oral, Elif A.
Publié dans Clin Diabetes Endocrinol (2018)