Harvard Catalyst Profiles

Contact, publication, and social network information about Harvard faculty and fellows.

Stephanie Sacharow, M.D.

Concepts (186)

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Concepts are derived automatically from a person's publications.
Concepts are listed by decreasing relevance which is based on many factors, including how many publications the person wrote about that topic, how long ago those publications were written, and how many publications other people have written on that same topic.
Name Number of Publications Most Recent Publication Publications by All Authors Concept Score Why?
Phenylketonurias920241263.540 Why?
Neonatal Screening320245971.420 Why?
Phenylalanine Ammonia-Lyase42022111.240 Why?
Abnormalities, Multiple5201714230.740 Why?
Carbon-Nitrogen Ligases with Glutamine as Amide-N-Donor12017110.610 Why?
Aspartate-Ammonia Ligase12017180.600 Why?
Lipid Metabolism, Inborn Errors120171230.550 Why?
Chromosome Deletion5201813860.550 Why?
Oxidoreductases Acting on CH-CH Group Donors120171730.530 Why?
Amino Acid Metabolism, Inborn Errors120172830.480 Why?
Developmental Disabilities3201715100.440 Why?
Tooth Abnormalities12012550.390 Why?
Phenylalanine320243640.390 Why?
Bone Diseases, Developmental120121320.370 Why?
Chromosomes, Human, Pair 16120123430.350 Why?
Nerve Tissue Proteins1201744040.240 Why?
Seizures1201729650.240 Why?
Phenylalanine Hydroxylase12024280.240 Why?
Lethargy12024430.240 Why?
Jaundice12024930.230 Why?
Homozygote2201717750.210 Why?
Liver Failure, Acute120241810.210 Why?
Microcephaly220244250.200 Why?
Acidosis, Lactic120231460.190 Why?
Mutation52018300020.190 Why?
Vomiting120246500.190 Why?
Vacuolar Proton-Translocating ATPases120221950.180 Why?
Repressor Proteins1201229740.180 Why?
Pedigree4201945370.180 Why?
Biological Therapy120211390.170 Why?
Haploinsufficiency220233360.160 Why?
Muscular Diseases120235520.160 Why?
GTP-Binding Protein beta Subunits12018330.160 Why?
Spasms, Infantile120222980.160 Why?
Retinitis Pigmentosa120223970.150 Why?
Guanosine Triphosphate120193140.150 Why?
Noonan Syndrome120191200.150 Why?
Heredodegenerative Disorders, Nervous System12018160.150 Why?
Genetic Association Studies3201927310.150 Why?
Monomeric GTP-Binding Proteins120191990.150 Why?
Asparagine120171200.150 Why?
Cataract120238280.140 Why?
Child Development Disorders, Pervasive220116000.130 Why?
DNA Copy Number Variations4201720240.130 Why?
Ribonuclease III120182670.130 Why?
Infant, Newborn42024261990.130 Why?
Consanguinity120174570.130 Why?
Neoplastic Syndromes, Hereditary120182460.120 Why?
Chromosomes, Human, Pair 14220182860.120 Why?
DEAD-box RNA Helicases120183800.120 Why?
Glutamine120175740.120 Why?
Facies220132220.120 Why?
Child, Preschool112024422240.120 Why?
Arginine120179200.110 Why?
Mitochondrial Diseases120183420.110 Why?
Siblings120178240.110 Why?
Brain Diseases1202215450.110 Why?
Chromosome Disorders120164970.110 Why?
Infant92024361690.110 Why?
Sequence Deletion2201814870.110 Why?
Nutritional Status1202115970.100 Why?
Recombinant Proteins2202165040.100 Why?
DNA, Mitochondrial120188650.100 Why?
Chromosomes, Human, Pair 19120133500.100 Why?
Peripheral Nervous System Diseases120187090.100 Why?
Mitochondrial Proteins120189740.100 Why?
Humans3320247612080.100 Why?
Child152024801520.100 Why?
Membrane Proteins2201978510.100 Why?
Methylenetetrahydrofolate Dehydrogenase (NADP)12011170.090 Why?
Cardiomyopathies1202320210.090 Why?
Spherocytosis, Hereditary12011830.090 Why?
Asperger Syndrome12010570.090 Why?
Polymorphism, Single Nucleotide52017159200.090 Why?
Arthrogryposis12011680.090 Why?
Comparative Genomic Hybridization120124730.090 Why?
Phenotype62024165750.090 Why?
Proteasome Endopeptidase Complex1201713180.090 Why?
Chromosomes, Human, Pair 7120113100.090 Why?
Chromosomes, Human, Pair 22120113460.090 Why?
Gene Duplication120113140.090 Why?
Chromosomes, Human, Pair 15120113610.080 Why?
Epilepsy2202233040.080 Why?
DNA Mutational Analysis1201741070.080 Why?
Liver Diseases1201813010.080 Why?
Escherichia coli1202142010.080 Why?
Binding Sites1201759880.080 Why?
Female1720243925440.070 Why?
Male1820243606930.070 Why?
Models, Molecular1201754060.070 Why?
Fibroblasts1201741370.070 Why?
Adult1020242211190.070 Why?
Clinical Trials as Topic1202280030.070 Why?
Nucleic Acid Hybridization1200713010.070 Why?
Cognition1202369880.060 Why?
Diet1202180480.050 Why?
Carrier Proteins1201649350.050 Why?
Health Education1200910490.050 Why?
Adolescent92024882980.050 Why?
Autistic Disorder1201112220.050 Why?
Herpes Simplex120244650.050 Why?
Phosphotransferases (Alcohol Group Acceptor)120234330.050 Why?
Fatty Acids, Essential12021970.050 Why?
Amidohydrolases120211580.040 Why?
Prognosis22017296870.040 Why?
Drug Packaging21969430.040 Why?
Micronutrients120213810.040 Why?
Syndrome1202432710.040 Why?
Atrophy1202216330.040 Why?
Lysosomes120229210.030 Why?
Young Adult62024592210.030 Why?
Heart Defects, Congenital1201346730.030 Why?
Adenosine Triphosphate1202219880.030 Why?
Dietary Proteins120219510.030 Why?
Genetic Engineering120219300.030 Why?
Heterozygote1202227780.030 Why?
Nervous System120185450.030 Why?
Mutation, Missense1202425670.030 Why?
Executive Function1202313880.030 Why?
Chromosomes, Human, Pair 1120166380.030 Why?
Retrospective Studies12022806740.030 Why?
RNA-Binding Proteins1202218550.030 Why?
Genetic Predisposition to Disease22011178970.030 Why?
Consensus1202231340.030 Why?
GATA4 Transcription Factor120131240.030 Why?
Cross-Sectional Studies22024260710.020 Why?
Protein Structure, Tertiary1201837780.020 Why?
Protein Conformation1201939330.020 Why?
Homeostasis1202233200.020 Why?
Chromosomes, Human, Pair 8120134520.020 Why?
Microsatellite Repeats120137820.020 Why?
Microarray Analysis120137480.020 Why?
Neuropsychological Tests1202370460.020 Why?
Minor Histocompatibility Antigens120112940.020 Why?
HEK293 Cells1201942430.020 Why?
Germ-Line Mutation1201818520.020 Why?
Down-Regulation1201729160.020 Why?
Ubiquitins120113660.020 Why?
Gene Deletion1201726580.020 Why?
Diagnosis, Differential12024129760.020 Why?
Ubiquitin Thiolesterase120114550.020 Why?
Longitudinal Studies12024146100.020 Why?
Puerto Rico120093780.020 Why?
Chromosomes, Artificial, Bacterial120071230.020 Why?
Cosmetics119681020.020 Why?
Tubulin120116920.020 Why?
Endopeptidases120117660.020 Why?
Oligonucleotide Probes120074160.020 Why?
In Situ Hybridization, Fluorescence1201325090.020 Why?
Autoantigens120118880.020 Why?
Dose-Response Relationship, Drug12018107560.020 Why?
User-Computer Interface1201313930.020 Why?
Mass Screening1202254260.020 Why?
Neuropeptides120119440.020 Why?
Zebrafish1201730000.020 Why?
Genetic Linkage1201023400.020 Why?
Mitochondria1201836200.010 Why?
Gene Frequency1201136030.010 Why?
Animals420241680790.010 Why?
Transcription Factors12023120990.010 Why?
Glycoproteins1201122030.010 Why?
Middle Aged320242208530.010 Why?
Needs Assessment1200911410.010 Why?
Program Development1200912940.010 Why?
Genome-Wide Association Study22013126760.010 Why?
Cohort Studies22018414960.010 Why?
Liver1201875140.010 Why?
Family1201131920.010 Why?
Attitude to Health1200920260.010 Why?
Alleles1201168570.010 Why?
Chromosome Mapping1200746120.010 Why?
Oligonucleotide Array Sequence Analysis1200737770.010 Why?
Disease Models, Animal12017182200.010 Why?
Pregnancy12018298930.010 Why?
Genotype12011129850.010 Why?
Comorbidity12011105160.010 Why?
Health Personnel1200933370.010 Why?
Treatment Outcome12021646810.010 Why?
Mice12016813260.000 Why?
Drug Stability119682880.000 Why?
Plastics119681170.000 Why?
Rodentia119692610.000 Why?
Fungi119693370.000 Why?
Metals119687110.000 Why?
Risk Factors12010742390.000 Why?
Bacteria1196921900.000 Why?
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Concepts (186)
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Co-Authors (18)
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© 2025 President and Fellows of Harvard College
Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.