Emery and Rimoin

Emery and Rimoin's Principles and Practice of Medical Genetics

For decades, Emery and Rimoin’s Principles and Practice of Medical Genetics has provided the ultimate source for practicing clinicians to learn how the study of genetics can be integrated into practice.

With almost 5,000 pages of detailed coverage, this fully online sixth edition of the classic reference adds the latest information on prenatal diagnosis, genetic screening, genetic counseling, and treatment strategies to complete its coverage of the growing field for medical students, residents and physicians involved in the care of patients with genetic conditions. Clinically oriented information is supported by expanded sections on basic principles of genetics, research approaches, and analytics to embrace the evolving population of students, researchers, and practitioners who are integrating their work to provide advanced diagnosis, prevention and treatment of human disease.

With advances in high-throughput technologies propelling the closer integration of lab and clinical work, this edition bridges the gap between high-level molecular genetics and clinical application.


Medical and research libraries and institutions serving researchers of human genetics/genomics; cancer, neuroscience, metabolic, endocrinology, pharmacology, behaviour, immunology, hematology, orthopaedic, pediatric, gene therapy researchers; advanced students, specialists, and medical practitioners across medical disciplines as well systems biology, molecular medicine, and genetic epidemiology.


Published: March 2013

Imprint: Academic Press

ISBN: 978-0-12-383835-3


  • Praise for previous editions

    "...the most comprehensive review of genetic knowledge applied to the clinical practice of medical genetics [...] This is a book of magnificent quality. Very few books can be compared to this one. This is a must-have textbook with features that make it a unique source for medical geneticists" Luis F. Escobar, Shock, 2008;30-3:339 doi: 10.1097/01.SHK.0000286299.94327.fa

    ...to have brought together between the covers of three volumes a comprehensive summary of current thoughts and practices in clinical genetics as practised in the leading departments across the world by some of the greatest geneticists is a magnificent achievement. It is a body of experience from which we can all learn and to which I suspect most of us will continue to turn on a regular basis" Willie Reardon, J Med Genet 2002;39:454 doi:10.1136/jmg.39.6.454-a


  •  History of Medical Genetics
     Medicine in a Genetic Context
     Nature and Frequency of Genetic Disease
     Genomics and Proteomics
     Genome Structure and Gene Expression
     Human Gene Mutation in Inherited Disease: Molecular Mechanisms and Clinical Consequences
     Mendelian Inheritance
     Analysis of Genetic Linkage
     Chromosomal Basis of Inheritance
     Mitochondrial Genes in Degenerative Diseases, Cancer and Aging
     Multifactoral Inheritance and Complex Traits
     Population Genetics
     Pathogenetics of Disease
     Human Developmental Genetics
     Twins and Twinning
     The Molecular Biology of Cancer
     The Biologic Basis of Aging: Implications for Medical Genetics
     Pharmacogenetics and Pharmacogenomics
     Genetic Risk Assessment for Common Disease
     Genetic Counseling and Clinical Risk Assessment
     Cytogenetic Analysis
     Diagnostic Molecular Genetics
     Heterozygote Testing and Carrier Screening
     Prenatal Screening for Neural Tube Defects and Aneuploidy
     Techniques for Prenatal Diagnosis
     Neonatal Screening
     Enzyme Replacement and Pharmacologic Chaperone Therapies for Lysomal Storage Disease
     Gene Therapy
     Ethical and Social Issues in Clinical Genetics
     Legal Issues in Genetics in Medicine
     The Genetic Basis of Female Infertility
     Male Infertility
     Fetal Loss
     Genetic Disorders of Prematurity
     A Clinical Approach to the Dysmorphic Child
     Clinical Teratology
     Abnormal Mental Development
     Abnormal Body Size and Proportion
     Susceptibility and Response to Infection
     Transplantation Genetics
     Down Syndrome and other Autosomal Trisomies
     Sex Chromosome Abnormalities
     Deletions and Other Structural Abnormalities of the Autosomes
     Congenital Heart Disease
     Pulmonary Arterial Hypertension
     Hereditary Hemorrhagic Telangiectasia
     Cutaneous Hamartoneoplastic Disorders
     Disorders of the Venous System
     Capillary Malformation / Arteriovenous Malformation
     Hereditary Disorders of the Lymphatic System
     The Genetics of Cardiac Electrophysiology in Humans
     The Genetics of Blood Pressure Regulation in Humans
     Common Genetic Determinants of Coagulation and Fibronolysis
    Genetics of Atherosclerotic Cardiovascular Disease
     Cystic Fibrosis
     Hereditary Pulmonary Emphysema
     Interstitial and Restrictive Pulmonary Disorders
     Congenital Anomalies of the Kidney and Urinary Tract (CAKUT)
     Cystic Diseases of the Kidney
     Nephrotic Disorders
     Renal Tubular Disorders
     Cancer of the Kidney and Urogenital Tract
     Gastrointestinal Tract and Hepatobiliary Duct System
     Inflammatory Bowel Disease
     Bile Pigment Metabolism and its Disorders
     Cancer of the Colon and Gastrointestinal Tract
     Hemoglobinopathies and Thalassemias
     Other Hereditary Red Blood Cell Disorders
     Hemophilias and Other Disorders of Hemostasis
     Rhesus and Other Fetomaternal Incompatibilities
     Leukemias, Lymphomas and Other Related Disorders
     Autoimmunity: Genetics and Immunological Mechanisms
     Systemic Lupus Erythematosus
     Rheumatoid Disease and Other Inflammatory Arthropathies
     Amyloidosis and Other Protein Deposition Diseases
     Disorders of Lymphocyte Development and Function
     Complement Defects
     Disorders of Leukocyte Function
     Genetic Disorders of the Pituitary Gland
     Thyroid Disorders
     Parathyroid Disorders
     Diabetes Mellitus
     Genetic Disorders of the Adrenal Gland
     Disorders of the Gonads, Genital Tract and Genitalia
     Cancer of the Breast and Female Reproductive Tract
     Disorders of the Body Mass
     Genetic Lipodystrophies
     Amino Acid Metabolism
     Disorders of Carbohydrate Metabolism
     Congenital disorders of protein glycosylation
     Purine and Pyrimidine Metabolism
     Lipoprotein and Lipid Metabolism
     Organic Acidemias and Disorders of Fatty Acid Oxidation
     Vitamin D Metabolism or Action
     Inherited Porphyrias
     Copper Metabolism
     Iron Metabolism and Related Disorders
     Disorders of DNA Repair and Metabolism
     Oligosaccharridoses and Allied Disorders
     Gangliosidoses and Related Lipid Storage Diseases
     Peroxisomal Disorders
     Genetics of Personality
     Fragile X Syndrome and Other Causes of X-linked Mental Handicap
     Dyslexia and Other Specific Learning Disorders
     Attention Deficit Hyperactivity Disorder and Other Behavioral Disorders
     Autism & Autism Spectrum
     Alzheimer Disease and Other Dementias
     Shizophrenia and Affective Disorders
     Addictive Disorders
     Neural Tube Defects
     Genetic Disorders of Cerebral Cortical Development
     The Epilepsies
     Basal Ganglia Disorders
     The Hereditary Ataxias
     Hereditary Spastic Paraplegia
     Autonomic and Sensory Disorders
     The Phakomatoses
     Multiple Sclerosis and Other Demyelinating Disorders
     Cerebrovascular Disorders
     Primary Tumors of the Nervous System
     The muscular dystrophies
     Hereditary Motor and Sensory Neuropathies
     Congenital (Structural) Myopathies
     Spinal Muscular Atrophies
     Nondystrophic Myotonias and Periodic Paralyses
     Myotonic Dystrophy
     Hereditary and Autoimmune Myasthenias
     Motor Neurone Disease
     Color Vision Defects
     Optic Atrophy
     Defects of the Cornea
     Anomalies of the Lens
     Hereditary Retinal and Choroidal Degenerations
     Disorders of the Hair
     Hereditary hearing impairment
     Clefting, Dental, and Craniofacial Syndromes
     Abnormalities of Pigmentation
     Ichthyosiform Dermatoses
     Epidermolysis Bullosa
     Ectodermal Dysplasias
     Psoriasis and Related Disorders
     Skin Cancer
     Marfan Syndrome and Other Disorders of Fibrillin
     Ehlers-Danlos Syndrome
     Heritable Diseases Affecting the Elastic Tissues: Cutis Laxa, Pseudoxanthoma Elasticum and Related Disorders
     Osteogenesis Imperfecta (and other disorders of bone matrix)
     Disorders of Bone Density, Volume and Mineralization
     Abnormalities of Bone Structure
     The Dysostoses
     Arthrogryposes (Multiple Congenital Contractures)
     Common Skeletal Deformities
     Hereditary Noninflammatory Arthropathies


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