Professor, Molecular and Human Genetics, Baylor College of Medicine

Medical Genetics

Carlos Bacino, MD works in the field of Medical Genetics. Carlos Bacino is also published. He has 24 publications published. The lastest publication: "Dataset for a case report of a homozygous PEX16 F332del mutation.'

Publications

---

• Dataset for a case report of a homozygous PEX16 F332del mutation.
• 5q14.3 deletion neurocutaneous syndrome: Contiguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C: A progressive disease.
• Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.
• Terminal osseous dysplasia with pigmentary defects (TODPD) due to a recurrent filamin A (FLNA) mutation.
• Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications.
• Isolated fetal macrodactyly: phenotypic and genetic disparities in mosaic overgrowth syndrome.
• Etiopathogenesis of equinovarus foot malformations.
• Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27.
• Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.
• Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10 362 consecutive cases.
• Expanding the genotype-phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysis.
• Fusion of Large-Scale Genomic Knowledge and Frequency Data Computationally Prioritizes Variants in Epilepsy.
• NAHR-mediated copy-number variants in a clinical population: Mechanistic insights into both genomic disorders and Mendelizing traits.
• TM4SF20 Ancestral Deletion and Susceptibility to a Pediatric Disorder of Early Language Delay and Cerebral White Matter Hyperintensities.
• Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing.
• Early childhood presentation of Czech dysplasia.
• Next-generation sequencing for disorders of low and high bone mineral density.
• Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities.
• Does short bowel syndrome increase the risk of food allergy and eosinophilic gastrointestinal disease? Observations in Shah-Waardenburg syndrome.
• WDR35 mutation in siblings with Sensenbrenner syndrome: a ciliopathy with variable phenotype.
• A child with an inherited 0.31 Mb microdeletion of chromosome 14q32.33: Further delineation of a critical region for the 14q32 deletion syndrome.
• Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis.
• Lysinuric Protein Intolerance Presenting with Multiple Fractures.

Schools

---

• Universidad De Buenos Aires Facultad De Ciencias Medicas

• Beth Israel Medical Center

• CedarsSinai Medical Center

Doctors Specialties

---

• Clinical Cytogenetics
• Clinical Genetics
• Clinical Molecular Genetics
• Pediatrics
• Medical Genetics

Accepted Insurances

---

Education

---

• Cedars-Sinai Medical Center
• Mount Sinai Beth Israel
• University of Buenos Aires

Hospital

---

• Texas Children's Hospital
• Baylor St. Luke's Medical Center

Helpful Reviews

---

Give Anonymous Review

Similar Doctors

---

	Dr. Chester Brown, MD This Doctor is OpenDoctor Recommended.
	Dr. Hannah Lee, DO
	Dr. Mona Khan, MD This Doctor is OpenDoctor Recommended.
	Neil A. Hanchard, MB This Doctor is OpenDoctor Recommended. This doctor has more publications
	Dr. Christian P. Schaaf, MD This Doctor is OpenDoctor Recommended. This doctor has more publications
	Dr. Lydia N. Roman, PHD
	Dr. Wojciech K. Wiszniewski, MD This Doctor is OpenDoctor Recommended. This doctor has more publications
	Dr. Karla R. Bowles, PHD
	Dr. Joanna Wiszniewska, MD This Doctor is OpenDoctor Recommended.
	Dr. Luis M. Franco, MD This Doctor is OpenDoctor Recommended.
	Dr. Xinyan Lu, MD This Doctor is OpenDoctor Recommended.
	Dr. William E. O'Brien, PHD
	Dr. Sharon Plon, PHD This Doctor is OpenDoctor Recommended. This doctor has more publications
	Ruth Alao
	Rupin Dhamankar
	Dr. Christine Eng, MD This Doctor is OpenDoctor Recommended.
	Dr. Peter L. Andrus, MD This Doctor is OpenDoctor Recommended.
	Dr. Vernon Sutton, MD This Doctor is OpenDoctor Recommended. This doctor has more publications
	Dr. Bambi L. Hoefner, MD This Doctor is OpenDoctor Recommended.
	Dr. Seema R. Lalani, MD This Doctor is OpenDoctor Recommended. This doctor has more publications
	Dr. Alexander N. Injac, MD This Doctor is OpenDoctor Recommended.
	Dr. Katherine H. Thompson, MD This Doctor is OpenDoctor Recommended. This doctor has more publications

---

Doctor Directory | TOS | twitter | FB | Angel | blog