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The natural history and genotype-phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis. 143:721-734. 2024
A dominant variant in the PDE1C gene is associated with nonsyndromic hearing loss. 137:437-446. 2018
ELMOD3, a novel causative gene, associated with human autosomal dominant nonsyndromic and progressive hearing loss. 137:329-342. 2018
A gene-based test of association through an orthogonal decomposition of genotype scores. 136:1385-1394. 2017
Detection of chromosomal aneuploidy in endometriosis by multi-color fluorescence in situ hybridization (FISH). 100:401-406. 1997
CHANGING PATERNAL AGE DISTRIBUTION AND THE HUMAN MUTATION-RATE IN EUROPE. 86:198-202. 1990
INCREASED SISTER CHROMATID EXCHANGES IN HUMAN CELL-LINES CHARACTERIZED BY MONOSOMY-X OR STRUCTURAL ABNORMALITIES OF THE X-CHROMOSOME. 68:205-208. 1984
INTERSTITIAL DELETION 46,XY,DEL(1)(Q23Q25). 61:277-277. 1982
ULTRASONIC INDUCTION OF SISTER CHROMATID EXCHANGES IN HUMAN-LYMPHOCYTES. 59:221-226. 1981
XY GONADAL-DYSGENESIS - GENETIC-HETEROGENEITY BASED UPON CLINICAL OBSERVATIONS, H-Y-ANTIGEN STATUS AND SEGREGATION ANALYSIS. 58:91-97. 1981
LOCALIZATION OF THE NUCLEOLAR ORGANIZER BY COMPUTER-AIDED ANALYSIS OF A VARIANT NO 21 IN A HUMAN ISOLATE. 48:211-219. 1979
TRISOMY-21 AND MATERNAL AGE OF MENOPAUSE - DOES REPRODUCTIVE AGE RATHER THAN CHRONOLOGICAL AGE INFLUENCE RISK OF NONDISJUNCTION 1995
MUTATIONS IN THE CONSERVED DOMAIN OF SRY ARE UNCOMMON IN XY GONADAL-DYSGENESIS 1992
SISTER CHROMATID EXCHANGE (SCE) FREQUENCIES DIFFER BETWEEN DIRECTLY PREPARED CYTOTROPHOBLASTS AND CULTURED MESENCHYMAL CORE CELLS 1991
FAILURE TO DOCUMENT FETAL CELLS IN MATERNAL CIRCULATION USING THE SELYPES-LORENCZ AIR-CULTURE CYTOGENETIC TECHNIQUE 1990
FAILURE TO DETECT POLYCYSTIC KIDNEYS IN UTERO BY 2ND TRIMESTER ULTRASONOGRAPHY 1982
MALE PSEUDOHERMAPHRODITISM - GENETICS AND CLINICAL DELINEATION 1978

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