Analysis of genitourinary anomalies in patients with VACTERL (Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, Limb abnormalit...

Por Solomon, Benjamin D., Raam, Manu S., Pineda-Alvarez, Daniel E.
Publicado em 2011

Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients

Por Pineda-Alvarez, Daniel E., Dubourg, Christèle, David, Véronique, Roessler, Erich, Muenke, Maximilian
Publicado em 2010

Evidence for inheritance in patients with VACTERL association

Por Solomon, Benjamin D., Pineda-Alvarez, Daniel E., Raam, Manu S., Cummings, Derek A. T.
Publicado em 2010

Long-term outcomes of adults with features of VACTERL association

Por Raam, Manu S., Pineda-Alvarez, Daniel E., Hadley, Donald W., Solomon, Benjamin D.
Publicado em 2010

Clinical utility gene card for: Holoprosencephaly

Por Dubourg, Christèle, David, Véronique, Gropman, Andrea, Mercier, Sandra, Muenke, Maximilian, Odent, Sylvie, Pineda-Alvarez, Daniel E, Roessler, Erich
Publicado em 2011

Evidence for SHH as a candidate gene for encephalocele

Por Bear, Kelly A., Solomon, Benjamin D., Roessler, Erich, Pineda Alvarez, Daniel E., Kubendran, Shobana, O’Hara, Margaret, Muenke, Maximilian
Publicado em 2012

Analysis of Component Findings in 79 Patients Diagnosed with VACTERL Association

Por Solomon, Benjamin D., Pineda-Alvarez, Daniel E., Raam, Manu S., Bous, Sophia M., Keaton, Amelia A., Vélez, Jorge I., Cummings, Derek A.T.
Publicado em 2010

Missense substitutions in the GAS1 protein present in holoprosencephaly patients reduce the affinity for its ligand, SHH

Por Pineda-Alvarez, Daniel E., Roessler, Erich, Hu, Ping, Srivastava, Kshitij, Solomon, Benjamin D., Siple, C. Evan, Fan, Chen-Ming, Muenke, Maximilian
Publicado em 2011

Analysis of FOXF1 and the FOX gene cluster in patients with VACTERL association

Por Agochukwu, Nneamaka B., Pineda-Alvarez, Daniel E., Keaton, Amelia A., Warren-Mora, Nicole, Raam, Manu S., Kamat, Aparna, Chandrasekharappa, Settara C., Solomon, Benjamin D.
Publicado em 2011

Patients within the Broad Holoprosencephaly Spectrum have Distinct and Subtle Ophthalmologic Anomalies: Response to Khan

Por Pineda-Alvarez, Daniel E., Solomon, Benjamin D., Roessler, Erich, Balog, Joan Z., Hadley, Donald W., Zein, Wadih M., Brooks, Brian P., Muenke, Maximilian
Publicado em 2012

Comparison of mutation findings in ZIC2 between microform and classical holoprosencephaly in a Brazilian cohort

Por Ribeiro, Lucilene A., Roessler, Erich, Hu, Ping, Pineda-Alvarez, Daniel E., Zhou, Nan, Jones, MaryPat, Chandrasekharappa, Settara, Richieri-Costa, Antonio, Muenke, Maximilian
Publicado em 2012

Analysis of Genotype-Phenotype Correlations in Human Holoprosencephaly

Por Solomon, Benjamin D., Mercier, Sandra, Vélez, Jorge I., Pineda-Alvarez, Daniel E., Wyllie, Adrian, Zhou, Nan, Dubourg, Christèle, David, Veronique, Odent, Sylvie, Roessler, Erich, Muenke, Maximilian
Publicado em 2010

A Broad Range of Ophthalmologic Anomalies is Part of the Holoprosencephaly Spectrum

Por Pineda-Alvarez, Daniel E., Solomon, Benjamin D., Roessler, Erich, Balog, Joan Z., Hadley, Donald W., Zein, Wadih M., Hadsall, Casey K., Brooks, Brian P., Muenke, Maximilian
Publicado em 2011

De Novo Deletion of Chromosome 20q13.33 in a Patient with Tracheo-esophageal Fistula, Cardiac Defects and Genitourinary Anomalies Implicates GTPBP5 as a Candidate Gene

Por Solomon, Benjamin D, Pineda–Alvarez, Daniel E, Hadley, Donald W, Keaton, Amelia A, Agochukwu, Nneamaka B, Raam, Manu S, Carlson–Donohoe, Hannah E, Kamat, Aparna, Chandrasekharappa, Settara C
Publicado em 2011

Compound Heterozygosity for Mutations in PAX6 in Patient with Complex Brain Anomaly, Neonatal Diabetes Mellitus, and Microophthalmia

Por Solomon, Benjamin D., Pineda-Alvarez, Daniel E., Balog, Joan Z., Hadley, Donald, Gropman, Andrea L., Nandagopal, Radha, Han, Joan C., Hahn, Jin S., Blain, Delphine, Brooks, Brian, Muenke, Maximilian
Publicado em 2009

Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly

Por Hehr, Ute, Pineda-Alvarez, Daniel E., Uyanik, Goekhan, Hu, Ping, Zhou, Nan, Hehr, Andreas, Schell-Apacik, Chayim, Altus, Carola, Daumer-Haas, Cornelia, Meiner, Annechristin, Steuernagel, Peter, Roessler, Erich, Winkler, Juergen, Muenke, Maximilian
Publicado em 2010

Incidental Medical Information in Whole-Exome Sequencing

Por Solomon, Benjamin D., Hadley, Donald W., Pineda-Alvarez, Daniel E., Kamat, Aparna, Teer, Jamie K., Cherukuri, Praveen F., Hansen, Nancy F., Cruz, Pedro, Young, Alice C., Berkman, Benjamin E., Chandrasekharappa, Settara C., Mullikin, James C.
Publicado em 2012

Minimal evidence for a direct involvement of Twisted Gastrulation Homolog 1 (TWSG1) gene in human holoprosencephaly

Por Kauvar, Emily F., Hu, Ping, Pineda-Alvarez, Daniel E., Solomon, Benjamin D., Dutra, Amalia, Pak, Evgenia, Blessing, Brooke, Proud, Virginia, Shanske, Alan L., Stevens, Cathy A., Rosenfeld, Jill A., Shaffer, Lisa G., Roessler, Erich, Muenke, Maximilian
Publicado em 2010

The Mutational Spectrum of Holoprosencephaly-Associated Changes within the SHH Gene in Humans Predicts Loss-of-Function Through Either Key Structural Alterations of the Ligand or I...

Por Roessler, Erich, El-Jaick, Kenia B., Dubourg, Christèle, Vélez, Jorge I., Solomon, Benjamin D., Pineda-Álvarez, Daniel E., Lacbawan, Felicitas, Zhou, Nan, Ouspenskaia, Maia, Paulussen, Aimée, Smeets, Hubert J., Hehr, Ute, Bendavid, Claude, Bale, Sherri, Odent, Sylvie, David, Véronique, Muenke, Maximilian
Publicado em 2009

Personalized Genomic Medicine: Lessons from the Exome

Por Solomon, Benjamin D., Pineda-Alvarez, Daniel E., Hadley, Donald W., Teer, Jamie K., Cherukuri, Praveen F., Hansen, Nancy F., Cruz, Pedro, Young, Alice C., Blakesley, Robert W., Lanpher, Brendan, Gibson, Stephanie Mayfield, Sincan, Murat, Chandrasekharappa, Settara C., Mullikin, James C.
Publicado em 2011