J. Friedman

Publications426
h-index76
Citations31,808
Highly Influential Citations962
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Structure, Function and Diversity of the Healthy Human Microbiome
Studies of the human microbiome have revealed that even healthy individuals differ remarkably in the microbes that occupy habitats such as the gut, skin and vagina. Much of this diversity remains… Expand
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Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
Chromosomal microarray (CMA) is increasingly utilized for genetic testing of individuals with unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), or… Expand
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Weight-reducing effects of the plasma protein encoded by the obese gene.
The gene product of the ob locus is important in the regulation of body weight. The ob product was shown to be present as a 16-kilodalton protein in mouse and human plasma but was undetectable in… Expand
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Mortality associated with Down's syndrome in the USA from 1983 to 1997: a population-based study
BACKGROUND Down's syndrome is the most frequently identified cause of mental retardation, but information about mortality and comorbidity in people with Down's syndrome is limited. METHODS We used… Expand
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Mortality in neurofibromatosis 1: an analysis using U.S. death certificates.
Although neurofibromatosis 1 (NF1) is a relatively common autosomal dominant condition, information about its effect on mortality is limited. We used Multiple-Cause Mortality Files, compiled from… Expand
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Population-based analyses of mortality in trisomy 13 and trisomy 18.
OBJECTIVE Although trisomy 13 and trisomy 18 are generally considered to be lethal, long-term survival of patients has been reported. We sought to evaluate mortality in people with trisomy 13 or 18… Expand
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Diagnostic criteria for schwannomatosis
The neurofibromatoses are a diverse group of genetic conditions that share a predisposition to the development of tumors of the nerve sheath. Schwannomatosis is a recently recognized third major form… Expand
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Use of the National Institutes of Health Criteria for Diagnosis of Neurofibromatosis 1 in Children
Objective. The National Institutes of Health (NIH) Diagnostic Criteria for neurofibromatosis 1 (NF1) are very useful clinically, but some individuals who are later shown to have NF1 cannot be… Expand
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Massively parallel sequencing: the next big thing in genetic medicine.
Massively parallel sequencing has reduced the cost and increased the throughput of genomic sequencing by more than three orders of magnitude, and it seems likely that costs will fall and throughput… Expand
  • 308
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Virus-Assisted Mapping of Neural Inputs to a Feeding Center in the Hypothalamus
We report the development of a pseudorabies virus that can be used for retrograde tracing from selected neurons. This virus encodes a green fluorescent protein marker and replicates only in neurons… Expand
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