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Genetics

D-Index
77
Citations
19597
World Ranking
1773
National Ranking
810

Overview

Carlos A. Bacino is affiliated with Baylor College of Medicine in the United States. Their research spans the fields of Biochemistry, Genetics and Molecular Biology, and Medicine, with a particular focus on Genetics, Molecular Biology, Cell Biology, Surgery, and Pediatrics, Perinatology and Child Health.

The scientist's work addresses several main topics including Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Connective Tissue Disorders Research, Genomic Variations and Chromosomal Abnormalities, Congenital Heart Defects Research, Genetic Syndromes and Imprinting, and Cellular Transport and Secretion.

Frequent publication venues where Bacino's research appears include:

  • Genetics in Medicine
  • The American Journal of Human Genetics
  • Genetics in Medicine Open
  • American Journal of Medical Genetics Part A
  • Brain

The scientist has collaborated extensively with several co-authors, notably Lindsay C. Burrage, Jill A. Rosenfeld, Hsiao-Tuan Chao, Hongzheng Dai, and Gary Clark.

Recent significant publications include:

  • "Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial" (2020, The Lancet)
  • "Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing" (2020, Journal of Clinical Investigation)
  • "Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study" (2021, Genetics in Medicine)
  • "De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation" (2020, The American Journal of Human Genetics)
  • "CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels" (2020, Genetics in Medicine)

Best Publications

  • Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

    Gillian I. Rice;Paul R. Kasher;Gabriella M A Forte;Niamh M. Mannion

  • Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

    Nicola Brunetti-Pierri;Jonathan S. Berg;Fernando Scaglia;John Belmont

  • Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease

    Jeroen H. Roelfsema;Stefan J. White;Yavuz Ariyürek;Deborah Bartholdi

  • Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements

    Pengfei Liu;Ayelet Erez;Sandesh C.Sreenath Nagamani;Shweta U. Dhar

  • Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

    Gillian Rice;Teresa Patrick;Rekha Parmar;Claire F Taylor

  • High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

    Fadi F. Hamdan;Candace T. Myers;Patrick Cossette;Philippe Lemay

  • Spectrum of CHD7 Mutations in 110 Individuals with CHARGE Syndrome and Genotype-Phenotype Correlation

    Seema R. Lalani;Arsalan M. Safiullah;Susan D. Fernbach;Karine C. Harutyunyan

  • Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management

    Linyan Meng;Linyan Meng;Mohan Pammi;Anirudh Saronwala;Pilar Magoulas;Pilar Magoulas

  • Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome.

    Heidi A. Heilstedt;Blake C. Ballif;Leslie A. Howard;Richard A. Lewis

  • Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease

    Kimberly Splinter;David R. Adams;Carlos A. Bacino;Hugo J. Bellen

  • Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis

    Deborah Krakow;Deborah Krakow;Stephen P Robertson;Lily M King;Timothy Morgan

  • Detection of clinically relevant exonic copy‐number changes by array CGH

    Philip M. Boone;Carlos A. Bacino;Chad A. Shaw;Patricia A. Eng

  • Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders

    Ian M. Campbell;Bo Yuan;Caroline Robberecht;Rolph P. Pfundt

  • Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

    Laure Frésard;Craig Smail;Nicole M. Ferraro;Nicole A. Teran

  • Clinical Implementation of Chromosomal Microarray Analysis: Summary of 2513 Postnatal Cases

    Xinyan Lu;Chad A. Shaw;Ankita Patel;Jiangzhen Li

  • Autism in Angelman syndrome: implications for autism research

    SU Peters;AL Beaudet;N Madduri;CA Bacino

  • Microarray‐based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics

    Sau W. Cheung;Chad A. Shaw;Daryl A. Scott;Ankita Patel

  • Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

    Claudia M.B. Carvalho;Feng Zhang;Pengfei Liu;Ankita Patel

  • Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia

    Deborah Krakow;Joris Vriens;Natalia Camacho;Phi Luong

  • Lessons learned from additional research analyses of unsolved clinical exome cases

    Mohammad K. Eldomery;Mohammad K. Eldomery;Zeynep Coban-Akdemir;Tamar Harel;Jill A. Rosenfeld

Frequent Co-Authors

Seema R. Lalani
Seema R. Lalani Baylor College of Medicine
James R. Lupski
James R. Lupski Baylor College of Medicine
Ankita Patel
Ankita Patel Baylor College of Medicine
Jill A. Rosenfeld
Jill A. Rosenfeld Baylor College of Medicine
Brendan Lee
Brendan Lee Baylor College of Medicine
Pawel Stankiewicz
Pawel Stankiewicz Baylor College of Medicine
Christine M. Eng
Christine M. Eng Baylor College of Medicine
Arthur L. Beaudet
Arthur L. Beaudet Baylor College of Medicine
Chad A. Shaw
Chad A. Shaw Baylor College of Medicine
Lorraine Potocki
Lorraine Potocki Baylor College of Medicine

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Related Online Degrees & Career Pathways

Studying Genetics opens doors to diverse career opportunities within and beyond laboratory research. Many students explore pathways that complement their genetics background, such as healthcare administration, clinical informatics, or specialized technical roles. For those interested in the business and management side of healthcare, pursuing a health care administration degree or choosing one of the healthcare administration degree online accredited programs can be a flexible and cost-effective option.

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Exploring interdisciplinary options or combining genetics studies with related online degrees can provide a competitive edge and broaden your job prospects in today’s evolving healthcare landscape.

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