Daniel E. Pineda-Alvarez, M.D., FACMG
Daniel E. Pineda-Alvarez, M.D., FACMG
Medical Director, Oncology
Adresse e-mail validée de invitae.com
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Clinical application of whole-exome sequencing across clinical indications
K Retterer, J Juusola, MT Cho, P Vitazka, F Millan, F Gibellini, ...
Genetics in Medicine 18 (7), 696-704, 2016
4082016
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing
LR Susswein, ML Marshall, R Nusbaum, KJV Postula, SM Weissman, ...
Genetics in Medicine 18 (8), 823-832, 2016
1462016
Analysis of genotype–phenotype correlations in human holoprosencephaly
BD Solomon, S Mercier, JI Vélez, DE Pineda‐Alvarez, A Wyllie, N Zhou, ...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2010
1192010
Analysis of component findings in 79 patients diagnosed with VACTERL association
BD Solomon, DE Pineda‐Alvarez, MS Raam, SM Bous, AA Keaton, ...
American Journal of Medical Genetics Part A 152 (9), 2236-2244, 2010
922010
Compound heterozygosity for mutations in PAX6 in a patient with complex brain anomaly, neonatal diabetes mellitus, and microophthalmia
BD Solomon, DE Pineda‐Alvarez, JZ Balog, D Hadley, AL Gropman, ...
American journal of medical genetics Part A 149 (11), 2543-2546, 2009
812009
Evidence for inheritance in patients with VACTERL association
BD Solomon, DE Pineda-Alvarez, MS Raam, DAT Cummings
Human genetics 127 (6), 731-733, 2010
772010
Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort
K Retterer, J Scuffins, D Schmidt, R Lewis, D Pineda-Alvarez, A Stafford, ...
Genetics in Medicine 17 (8), 623-629, 2015
762015
The mutational spectrum of holoprosencephaly‐associated changes within the SHH gene in humans predicts loss‐of‐function through either key structural …
E Roessler, KB El‐Jaick, C Dubourg, JI Vélez, BD Solomon, ...
Human mutation 30 (10), E921-E935, 2009
732009
Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals
BD Solomon, F Lacbawan, S Mercier, NJ Clegg, MR Delgado, ...
Journal of medical genetics 47 (8), 513-524, 2010
662010
Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients
DE Pineda‐Alvarez, C Dubourg, V David, E Roessler, M Muenke
American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2010
582010
Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog
BD Solomon, KA Bear, A Wyllie, AA Keaton, C Dubourg, V David, ...
Journal of medical genetics 49 (7), 473-479, 2012
572012
Missense substitutions in the GAS1 protein present in holoprosencephaly patients reduce the affinity for its ligand, SHH
DE Pineda-Alvarez, E Roessler, P Hu, K Srivastava, BD Solomon, ...
Human genetics 131 (2), 301-310, 2012
572012
Analysis of genitourinary anomalies in patients with VACTERL (Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo‐Esophageal fistula, Renal anomalies, Limb …
BD Solomon, MS Raam, DE Pineda‐Alvarez
Congenital anomalies 51 (2), 87-91, 2011
542011
Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics …
ER Riggs, EF Andersen, AM Cherry, S Kantarci, H Kearney, A Patel, ...
Genetics in Medicine 22 (2), 245-257, 2020
502020
A hypomorphic allele in the FGF8 gene contributes to holoprosencephaly and is allelic to gonadotropin-releasing hormone deficiency in humans
RF Arauz, BD Solomon, DE Pineda-Alvarez, AL Gropman, JA Parsons, ...
Molecular syndromology 1 (2), 59-66, 2010
482010
Long-term outcomes of adults with features of VACTERL association
MS Raam, DE Pineda-Alvarez, DW Hadley, BD Solomon
European journal of medical genetics 54 (1), 34-41, 2011
452011
Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly
U Hehr, DE Pineda-Alvarez, G Uyanik, P Hu, N Zhou, A Hehr, ...
Human genetics 127 (5), 555-561, 2010
432010
Incidental medical information in whole-exome sequencing
BD Solomon, DW Hadley, DE Pineda-Alvarez, A Kamat, JK Teer, ...
Pediatrics 129 (6), e1605-e1611, 2012
422012
Noninvasive prenatal screening for aneuploidy: positive predictive values based on cytogenetic findings
JM Meck, EK Dugan, L Matyakhina, A Aviram, C Trunca, ...
American journal of obstetrics and gynecology 213 (2), 214. e1-214. e5, 2015
322015
A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum
DE Pineda‐Alvarez, BD Solomon, E Roessler, JZ Balog, DW Hadley, ...
American journal of medical genetics Part A 155 (11), 2713-2720, 2011
302011
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