Full Professor(heuristic)

Genomic variations and chromosomal abnormalities · Genetics

Compare more Genetics professors.

h-index115
i10-index459
Publications631
Citations55,697

Grants

16 total · 0 active

NIH #R01HD039927

Function of Genes in Williams Syndrome Deletion Region

Amount
$400K–$500K
Period
2001-07-01 → 2007-05-31
PIs
1

NIH #M01RR000070

MOLECULAR GENETICS OF THE OCULO-AURICULO-VERTEBRAL (OAV) SPECTRUM

Amount
<$100K
Period
2005-12-01 → 2006-11-30
PIs
1

NIH #R01HD041623

Imprinted SnoRNA Genes in the PWS deletion Region

Amount
$200K–$300K
Period
2002-07-01 → 2006-06-30
PIs
1

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All Grants

16 total · 0 active

NIH #R01HD039927

Function of Genes in Williams Syndrome Deletion Region

Amount
$400K–$500K
Period
2001-07-01 → 2007-05-31
PIs
1

NIH #M01RR000070

MOLECULAR GENETICS OF THE OCULO-AURICULO-VERTEBRAL (OAV) SPECTRUM

Amount
<$100K
Period
2005-12-01 → 2006-11-30
PIs
1

NIH #R01HD041623

Imprinted SnoRNA Genes in the PWS deletion Region

Amount
$200K–$300K
Period
2002-07-01 → 2006-06-30
PIs
1

NIH #T32GM008748

POSTDOCTORAL TRAINING IN MEDICAL GENETICS

Amount
$100K–$200K
Period
2000-07-01 → 2005-06-30
PIs
1

NIH #R01NS040163

MOLECULAR MECHANISMS LEADING TO RETT SYNDROME

Amount
$300K–$400K
Period
2001-02-01 → 2005-01-31
PIs
1

NIH #R13DK061133

Conference on Genotype to Phenotype: Focus on Disease

Amount
<$100K
Period
2002-02-01 → 2002-12-31
PIs
1

Awarded at KEYSTONE SYMPOSIA

NIH #R01HD033504

MOLECULAR DISSECTION OF THE WILLIAMS SYNDROME DELETION

Amount
<$100K
Period
1997-09-01 → 2001-08-31
PIs
1

NIH #T32GM008404

POSTDOCTORAL TRAINING IN MEDICAL GENETICS

Amount
$100K–$200K
Period
1991-07-01 → 1996-06-30
PIs
1

NIH #R01HG000314

PHYSICAL MAP OF HUMAN CHROMOSOME 18

Amount
$200K–$300K
Period
1989-07-01 → 1994-06-30
PIs
1

NIH #R01GM042350

PHYSICAL MAP OF HUMAN CHROMOSOME 18

Amount
$300K–$400K
Period
1989-07-01 → 1994-06-30
PIs
1

NIH #R13HD029377

MOLECULAR CYTOGENETICS OF DEVELOPMENTAL DISORDERS

Amount
<$100K
Period
1992-07-01 → 1993-06-30
PIs
1

NIH #R01HG000298

INTRACHROMOSOMAL GENE MAPPING

Amount
$200K–$300K
Period
1989-07-01 → 1992-06-30
PIs
1

NIH #T32GM007439

GENETICS: MEDICAL GENETICS

Amount
$200K–$300K
Period
1977-07-01 → 1992-06-30
PIs
1

Awarded at YALE UNIVERSITY

NIH #R01GM026105

INTRACHROMOSOMAL GENE MAPPING

Amount
$200K–$300K
Period
1978-07-01 → 1989-06-30
PIs
1

Awarded at YALE UNIVERSITY

NIH #N01CP021037

GENETIC FACTORS IN HIGH-RISK CANCER PATIENTS

Amount
<$100K
Period
1982-09-30 → 1987-09-29
PIs
1

Awarded at YALE UNIVERSITY

NIH #P50GM032156

CYTOGENETIC AND MOLECULAR STUDIES OF MUSCULAR DYSTROPHY

Amount
—
Period
— → —
PIs
1

Awarded at YALE UNIVERSITY

Recent Public Signals

  1. New paper: Optical genome mapping with genome sequencing identifies subtelomeric <scp>Xq28</scp> deletion and inserted 7p22.3 duplication in a male with multisystem developmental disorder (American Journal of Medical Genetics Part A)2024-07-16

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Data Freshness

  • Publications as of 2026-07-09
  • Grants as of 2026-09-04

Data may not be current

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