Harvard Catalyst Profiles

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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?
Phenylketonurias920241283.510 Why?
Neonatal Screening320246201.390 Why?
Phenylalanine Ammonia-Lyase42022111.230 Why?
Abnormalities, Multiple5201714240.730 Why?
Carbon-Nitrogen Ligases with Glutamine as Amide-N-Donor12017110.600 Why?
Aspartate-Ammonia Ligase12017180.600 Why?
Lipid Metabolism, Inborn Errors120171230.550 Why?
Chromosome Deletion5201813850.550 Why?
Oxidoreductases Acting on CH-CH Group Donors120171730.530 Why?
Amino Acid Metabolism, Inborn Errors120172830.470 Why?
Developmental Disabilities3201715180.440 Why?
Tooth Abnormalities12012560.390 Why?
Phenylalanine320243670.390 Why?
Bone Diseases, Developmental120121320.360 Why?
Chromosomes, Human, Pair 16120123410.350 Why?
Nerve Tissue Proteins1201744130.240 Why?
Phenylalanine Hydroxylase12024280.240 Why?
Seizures1201729980.240 Why?
Lethargy12024430.230 Why?
Jaundice12024950.230 Why?
Homozygote2201717790.210 Why?
Liver Failure, Acute120241820.210 Why?
Microcephaly220244260.200 Why?
Acidosis, Lactic120231450.190 Why?
Mutation52018302380.190 Why?
Vomiting120246550.180 Why?
Repressor Proteins1201229820.180 Why?
Vacuolar Proton-Translocating ATPases120221950.180 Why?
Pedigree4201945390.180 Why?
Biological Therapy120211400.170 Why?
Haploinsufficiency220233340.160 Why?
Muscular Diseases120235530.160 Why?
GTP-Binding Protein beta Subunits12018350.160 Why?
Spasms, Infantile120223010.160 Why?
Retinitis Pigmentosa120223950.150 Why?
Guanosine Triphosphate120193150.150 Why?
Noonan Syndrome120191220.150 Why?
Heredodegenerative Disorders, Nervous System12018160.150 Why?
Genetic Association Studies3201927440.150 Why?
Monomeric GTP-Binding Proteins120191990.150 Why?
Asparagine120171200.150 Why?
Cataract120238370.140 Why?
Child Development Disorders, Pervasive220115980.130 Why?
DNA Copy Number Variations4201720480.130 Why?
Ribonuclease III120182710.130 Why?
Infant, Newborn42024264220.130 Why?
Consanguinity120174600.130 Why?
Neoplastic Syndromes, Hereditary120182490.120 Why?
Chromosomes, Human, Pair 14220182860.120 Why?
DEAD-box RNA Helicases120183850.120 Why?
Glutamine120175770.120 Why?
Facies220132240.120 Why?
Child, Preschool112024426690.110 Why?
Mitochondrial Diseases120183440.110 Why?
Arginine120179320.110 Why?
Siblings120178280.110 Why?
Brain Diseases1202215540.110 Why?
Chromosome Disorders120164980.110 Why?
Infant92024365350.110 Why?
Sequence Deletion2201814970.110 Why?
Recombinant Proteins2202165140.100 Why?
Nutritional Status1202116280.100 Why?
DNA, Mitochondrial120188720.100 Why?
Chromosomes, Human, Pair 19120133500.100 Why?
Mitochondrial Proteins120189790.100 Why?
Peripheral Nervous System Diseases120187160.100 Why?
Humans3320247681660.090 Why?
Membrane Proteins2201978760.090 Why?
Child152024809170.090 Why?
Methylenetetrahydrofolate Dehydrogenase (NADP)12011190.090 Why?
Cardiomyopathies1202320560.090 Why?
Spherocytosis, Hereditary12011830.090 Why?
Asperger Syndrome12010570.090 Why?
Polymorphism, Single Nucleotide52017160450.090 Why?
Comparative Genomic Hybridization120124740.090 Why?
Arthrogryposis12011690.090 Why?
Proteasome Endopeptidase Complex1201713190.090 Why?
Phenotype62024167260.090 Why?
Chromosomes, Human, Pair 7120113100.090 Why?
Chromosomes, Human, Pair 22120113480.090 Why?
Gene Duplication120113150.080 Why?
Chromosomes, Human, Pair 15120113610.080 Why?
Epilepsy2202233270.080 Why?
DNA Mutational Analysis1201741200.080 Why?
Liver Diseases1201813050.080 Why?
Binding Sites1201760200.080 Why?
Escherichia coli1202142140.080 Why?
Female1720243971920.070 Why?
Male1820243647190.070 Why?
Models, Molecular1201754030.070 Why?
Fibroblasts1201741760.070 Why?
Adult1020242236460.070 Why?
Clinical Trials as Topic1202280540.070 Why?
Nucleic Acid Hybridization1200713050.060 Why?
Cognition1202370730.060 Why?
Diet1202180890.050 Why?
Carrier Proteins1201649370.050 Why?
Health Education1200910590.050 Why?
Adolescent92024891690.050 Why?
Autistic Disorder1201112400.050 Why?
Herpes Simplex120244700.050 Why?
Fatty Acids, Essential12021970.050 Why?
Phosphotransferases (Alcohol Group Acceptor)120234340.050 Why?
Amidohydrolases120211600.040 Why?
Prognosis22017300100.040 Why?
Drug Packaging21969440.040 Why?
Micronutrients120213900.040 Why?
Syndrome1202432720.040 Why?
Atrophy1202216460.030 Why?
Young Adult62024600660.030 Why?
Lysosomes120229380.030 Why?
Heart Defects, Congenital1201347120.030 Why?
Adenosine Triphosphate1202220040.030 Why?
Dietary Proteins120219600.030 Why?
Genetic Engineering120219360.030 Why?
Heterozygote1202227980.030 Why?
Nervous System120185440.030 Why?
Mutation, Missense1202425920.030 Why?
Executive Function1202314010.030 Why?
Chromosomes, Human, Pair 1120166400.030 Why?
Retrospective Studies12022817620.030 Why?
RNA-Binding Proteins1202218900.030 Why?
Genetic Predisposition to Disease22011180650.030 Why?
Consensus1202232120.030 Why?
GATA4 Transcription Factor120131250.020 Why?
Protein Structure, Tertiary1201837720.020 Why?
Cross-Sectional Studies22024263790.020 Why?
Protein Conformation1201939560.020 Why?
Chromosomes, Human, Pair 8120134520.020 Why?
Homeostasis1202233480.020 Why?
Microsatellite Repeats120137850.020 Why?
Microarray Analysis120137530.020 Why?
Neuropsychological Tests1202371400.020 Why?
HEK293 Cells1201942830.020 Why?
Minor Histocompatibility Antigens120113030.020 Why?
Ubiquitins120113660.020 Why?
Down-Regulation1201729370.020 Why?
Germ-Line Mutation1201818850.020 Why?
Gene Deletion1201726750.020 Why?
Diagnosis, Differential12024130140.020 Why?
Longitudinal Studies12024147830.020 Why?
Ubiquitin Thiolesterase120114650.020 Why?
Puerto Rico120093800.020 Why?
Chromosomes, Artificial, Bacterial120071250.020 Why?
Cosmetics119681040.020 Why?
Tubulin120116950.020 Why?
Endopeptidases120117640.020 Why?
Oligonucleotide Probes120074170.020 Why?
In Situ Hybridization, Fluorescence1201325210.020 Why?
Autoantigens120118900.020 Why?
Dose-Response Relationship, Drug12018107600.020 Why?
User-Computer Interface1201314070.020 Why?
Mass Screening1202254580.020 Why?
Neuropeptides120119510.020 Why?
Genetic Linkage1201023420.020 Why?
Zebrafish1201730350.020 Why?
Mitochondria1201836810.010 Why?
Gene Frequency1201136230.010 Why?
Animals420241692460.010 Why?
Transcription Factors12023121680.010 Why?
Glycoproteins1201122020.010 Why?
Middle Aged320242234920.010 Why?
Needs Assessment1200911410.010 Why?
Program Development1200913000.010 Why?
Genome-Wide Association Study22013127950.010 Why?
Cohort Studies22018417540.010 Why?
Liver1201875770.010 Why?
Attitude to Health1200920250.010 Why?
Family1201132090.010 Why?
Alleles1201168940.010 Why?
Chromosome Mapping1200746200.010 Why?
Oligonucleotide Array Sequence Analysis1200738000.010 Why?
Disease Models, Animal12017183490.010 Why?
Pregnancy12018302560.010 Why?
Genotype12011130450.010 Why?
Comorbidity12011105900.010 Why?
Health Personnel1200933850.010 Why?
Treatment Outcome12021653710.010 Why?
Mice12016820290.000 Why?
Drug Stability119682910.000 Why?
Plastics119681190.000 Why?
Rodentia119692620.000 Why?
Fungi119693450.000 Why?
Metals119687130.000 Why?
Risk Factors12010749440.000 Why?
Bacteria1196922160.000 Why?
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Concepts (186)
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Co-Authors (19)
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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.