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?
Phenylketonurias920241263.560 Why?
Neonatal Screening320245971.430 Why?
Phenylalanine Ammonia-Lyase42022111.250 Why?
Abnormalities, Multiple5201714240.740 Why?
Carbon-Nitrogen Ligases with Glutamine as Amide-N-Donor12017110.610 Why?
Aspartate-Ammonia Ligase12017180.610 Why?
Lipid Metabolism, Inborn Errors120171230.560 Why?
Chromosome Deletion5201813870.550 Why?
Oxidoreductases Acting on CH-CH Group Donors120171740.540 Why?
Amino Acid Metabolism, Inborn Errors120172830.480 Why?
Developmental Disabilities3201715090.450 Why?
Tooth Abnormalities12012560.390 Why?
Phenylalanine320243660.390 Why?
Bone Diseases, Developmental120121310.370 Why?
Chromosomes, Human, Pair 16120123430.350 Why?
Nerve Tissue Proteins1201744140.240 Why?
Phenylalanine Hydroxylase12024280.240 Why?
Seizures1201729570.240 Why?
Lethargy12024430.240 Why?
Jaundice12024940.230 Why?
Homozygote2201717960.210 Why?
Liver Failure, Acute120241810.210 Why?
Microcephaly220244250.200 Why?
Acidosis, Lactic120231450.190 Why?
Mutation52018300450.190 Why?
Vomiting120246520.190 Why?
Vacuolar Proton-Translocating ATPases120221950.180 Why?
Repressor Proteins1201229850.180 Why?
Pedigree4201945890.180 Why?
Biological Therapy120211410.170 Why?
Haploinsufficiency220233370.160 Why?
GTP-Binding Protein beta Subunits12018330.160 Why?
Muscular Diseases120235530.160 Why?
Spasms, Infantile120222980.160 Why?
Retinitis Pigmentosa120223970.150 Why?
Guanosine Triphosphate120193160.150 Why?
Noonan Syndrome120191200.150 Why?
Heredodegenerative Disorders, Nervous System12018160.150 Why?
Genetic Association Studies3201927340.150 Why?
Monomeric GTP-Binding Proteins120192000.150 Why?
Asparagine120171190.150 Why?
Cataract120238320.140 Why?
Child Development Disorders, Pervasive220116000.130 Why?
DNA Copy Number Variations4201720200.130 Why?
Infant, Newborn42024262120.130 Why?
Ribonuclease III120182790.130 Why?
Consanguinity120174560.130 Why?
Neoplastic Syndromes, Hereditary120182450.120 Why?
Chromosomes, Human, Pair 14220182870.120 Why?
DEAD-box RNA Helicases120183840.120 Why?
Glutamine120175770.120 Why?
Facies220132220.120 Why?
Child, Preschool112024422540.120 Why?
Arginine120179330.110 Why?
Mitochondrial Diseases120183430.110 Why?
Siblings120178250.110 Why?
Brain Diseases1202215450.110 Why?
Chromosome Disorders120164990.110 Why?
Infant92024362050.110 Why?
Sequence Deletion2201814940.110 Why?
Nutritional Status1202116130.100 Why?
Recombinant Proteins2202165320.100 Why?
DNA, Mitochondrial120188650.100 Why?
Chromosomes, Human, Pair 19120133500.100 Why?
Peripheral Nervous System Diseases120187100.100 Why?
Mitochondrial Proteins120189760.100 Why?
Humans3320247614230.100 Why?
Child152024801620.100 Why?
Membrane Proteins2201978560.100 Why?
Methylenetetrahydrofolate Dehydrogenase (NADP)12011170.090 Why?
Cardiomyopathies1202319640.090 Why?
Spherocytosis, Hereditary12011840.090 Why?
Asperger Syndrome12010570.090 Why?
Polymorphism, Single Nucleotide52017159410.090 Why?
Arthrogryposis12011680.090 Why?
Comparative Genomic Hybridization120124730.090 Why?
Phenotype62024166060.090 Why?
Proteasome Endopeptidase Complex1201713200.090 Why?
Chromosomes, Human, Pair 7120113100.090 Why?
Chromosomes, Human, Pair 22120113460.090 Why?
Gene Duplication120113140.090 Why?
Chromosomes, Human, Pair 15120113610.080 Why?
Epilepsy2202232900.080 Why?
DNA Mutational Analysis1201741100.080 Why?
Liver Diseases1201812970.080 Why?
Escherichia coli1202142180.080 Why?
Binding Sites1201760550.080 Why?
Female1720243925810.070 Why?
Male1820243607360.070 Why?
Models, Molecular1201754390.070 Why?
Fibroblasts1201741400.070 Why?
Adult1020242211480.070 Why?
Clinical Trials as Topic1202280000.070 Why?
Nucleic Acid Hybridization1200713060.070 Why?
Cognition1202369860.060 Why?
Diet1202180740.050 Why?
Carrier Proteins1201649360.050 Why?
Health Education1200910520.050 Why?
Adolescent92024883130.050 Why?
Autistic Disorder1201112200.050 Why?
Herpes Simplex120244780.050 Why?
Phosphotransferases (Alcohol Group Acceptor)120234350.050 Why?
Fatty Acids, Essential12021970.050 Why?
Amidohydrolases120211590.040 Why?
Prognosis22017296200.040 Why?
Drug Packaging21969430.040 Why?
Micronutrients120213810.040 Why?
Syndrome1202432680.040 Why?
Atrophy1202216330.040 Why?
Lysosomes120229230.030 Why?
Young Adult62024592070.030 Why?
Heart Defects, Congenital1201346960.030 Why?
Adenosine Triphosphate1202219890.030 Why?
Dietary Proteins120219520.030 Why?
Genetic Engineering120219330.030 Why?
Heterozygote1202228030.030 Why?
Nervous System120185450.030 Why?
Mutation, Missense1202425710.030 Why?
Executive Function1202313890.030 Why?
Chromosomes, Human, Pair 1120166380.030 Why?
Retrospective Studies12022805820.030 Why?
RNA-Binding Proteins1202218970.030 Why?
Genetic Predisposition to Disease22011179120.030 Why?
Consensus1202231220.030 Why?
GATA4 Transcription Factor120131240.030 Why?
Cross-Sectional Studies22024261120.020 Why?
Protein Structure, Tertiary1201837920.020 Why?
Protein Conformation1201939690.020 Why?
Homeostasis1202233210.020 Why?
Chromosomes, Human, Pair 8120134520.020 Why?
Microsatellite Repeats120137850.020 Why?
Microarray Analysis120137490.020 Why?
Neuropsychological Tests1202370450.020 Why?
Minor Histocompatibility Antigens120112930.020 Why?
HEK293 Cells1201942780.020 Why?
Down-Regulation1201729180.020 Why?
Germ-Line Mutation1201818580.020 Why?
Ubiquitins120113660.020 Why?
Gene Deletion1201726670.020 Why?
Diagnosis, Differential12024129700.020 Why?
Ubiquitin Thiolesterase120114550.020 Why?
Longitudinal Studies12024145990.020 Why?
Puerto Rico120093760.020 Why?
Chromosomes, Artificial, Bacterial120071230.020 Why?
Cosmetics119681020.020 Why?
Tubulin120116930.020 Why?
Endopeptidases120117730.020 Why?
Oligonucleotide Probes120074170.020 Why?
In Situ Hybridization, Fluorescence1201325100.020 Why?
Autoantigens120118920.020 Why?
Dose-Response Relationship, Drug12018107660.020 Why?
Mass Screening1202254280.020 Why?
User-Computer Interface1201314000.020 Why?
Neuropeptides120119440.020 Why?
Zebrafish1201730070.020 Why?
Genetic Linkage1201023820.020 Why?
Mitochondria1201836230.010 Why?
Gene Frequency1201136470.010 Why?
Animals420241684410.010 Why?
Transcription Factors12023121250.010 Why?
Glycoproteins1201122080.010 Why?
Middle Aged320242208260.010 Why?
Needs Assessment1200911390.010 Why?
Program Development1200912980.010 Why?
Genome-Wide Association Study22013126880.010 Why?
Cohort Studies22018414460.010 Why?
Liver1201875320.010 Why?
Family1201131970.010 Why?
Attitude to Health1200920250.010 Why?
Alleles1201169220.010 Why?
Chromosome Mapping1200746380.010 Why?
Oligonucleotide Array Sequence Analysis1200737790.010 Why?
Disease Models, Animal12017182470.010 Why?
Pregnancy12018298620.010 Why?
Genotype12011130090.010 Why?
Comorbidity12011104980.010 Why?
Health Personnel1200933350.010 Why?
Treatment Outcome12021646510.010 Why?
Mice12016815090.000 Why?
Drug Stability119682910.000 Why?
Plastics119681150.000 Why?
Rodentia119692620.000 Why?
Fungi119693380.000 Why?
Metals119687180.000 Why?
Risk Factors12010741670.000 Why?
Bacteria1196921990.000 Why?
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Concepts (186)
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Co-Authors (18)
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© 2024 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.