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Carrier screening of 22,296 patients in the IVF setting utilizing next generation DNA sequencing detects common, uncommon & otherwise undetectable mutations in prevalent, society-recommended disorders

Fertility and sterility, 2014-09, Vol.102 (3), p.e307-e307

2014

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A rigorous process for selecting an optimal mutation set for population-based carrier screening

Fertility and sterility, 2013-09, Vol.100 (3), p.S190-S190

2013

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High Carrier Screening Detection Rates Utilizing Next-Generation Sequencing

Fertility and sterility, 2012-03, Vol.97 (3), p.S34-S34

2012

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Carrier screening of 8,500 IVF patients utilizing next generation DNA sequencing detects common, rare and otherwise undetectable mutations across society-recommended diseases

Fertility and sterility, 2013-09, Vol.100 (3), p.S479-S480

2013

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Characterization of the Key Aroma Compounds in Apricots (Prunus armeniaca) by Application of the Molecular Sensory Science Concept

Journal of agricultural and food chemistry, 2007-06, Vol.55 (13), p.5221-5228

2007

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Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes

American journal of human genetics, 1994-05, Vol.54 (5), p.741-747

1994

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The γ-aminobutyric acid receptor γ3 subunit gene (GABRG3) is tightly linked to the α5 subunit gene (GABRA5) on human chromosome 15q11–q13 and is transcribed in the same orientation

Genomics (San Diego, Calif.), 1995-03, Vol.26 (2), p.258-264

1995

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A Putative Gene Family in 15q11-13 and 16p11.2: Possible Implications for Prader-Willi and Angelman Syndromes

Proceedings of the National Academy of Sciences - PNAS, 1992-06, Vol.89 (12), p.5457-5461

1992

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A simple and nonradioactive method for detecting the Rb1.20 DNA polymorphism in the retinoblastoma gene

American journal of human genetics, 1992-12, Vol.51 (6), p.1450-1451

1992

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Epigenetic changes may contribute to the formation and spontaneous regression of retinoblastoma

Human genetics, 1989-09, Vol.83 (2), p.155-158

1989

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Frequency and parental origin of hypermethylated RB1 alleles in retinoblastoma

Human genetics, 1994-11, Vol.94 (5), p.491-496

1994

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Male teachers in elementary general music

Greger, Scott V

2014

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Application of linkage analysis to genetic counselling in families with hereditary retinoblastoma

Journal of medical genetics, 1988-04, Vol.25 (4), p.217-221

1988

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Cloning of the breakpoints of a submicroscopic deletion in an Angelman syndrome patient

Human molecular genetics, 1993-07, Vol.2 (7), p.921-924

1993

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No evidence for linkage between lipoprotein(a) (LPA) and esterase D (ESD)

Cytogenetic and genome research, 1988-01, Vol.48 (4), p.248-249

1988

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Angelman syndrome associated with an inversion of chromosome 15q11.2q24.3

American journal of human genetics, 1997-03, Vol.60 (3), p.574-580

1997

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Molecular definition of the Prader — Willi syndrome chromosome region and orientation of the SNRPN gene

Human molecular genetics, 1993-12, Vol.2 (12), p.1991-1994

1993

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Mapping of the Angelman and Prader-Willi syndromes

Progress in clinical and biological research, 1993, Vol.384, p.225

1993

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The gamma-aminobutyric acid receptor gamma 3 subunit gene (GABRG3) is tightly linked to the alpha 5 subunit gene (GABRA5) on human chromosome 15q11-q13 and is transcribed in the same orientation

Genomics (San Diego, Calif.), 1995-03, Vol.26 (2), p.258-264

1995

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The critical region for Angelman syndrome lies between D15S122 and D15S113

American journal of medical genetics, 1994-12, Vol.53 (4), p.396-398

1994

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Somatic mosaicism in a patient with bilateral retinoblastoma

American journal of human genetics, 1990-06, Vol.46 (6), p.1187-1193

1990

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Characterization of deletions at the retinoblastoma locus in patients with bilateral retinoblastoma

American journal of medical genetics, 1991-05, Vol.39 (2), p.196-200

1991

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Possible involvement of the retinoblastoma gene in undifferentiated sinonasal carcinoma

Cancer, 1990-11, Vol.66 (9), p.1954-1959

1990

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A simple and nonradioactive method for detecting the Rb1. 20 DNA polymorphism in the retinoblastoma gene

American journal of human genetics, 1992-12, Vol.51:6

1992

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Angelman syndrome associated with an inversion of chromosome l5ql1.2q24.3

American journal of human genetics, 1997, Vol.60 (3), p.574-580

1997

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Carrier screening of 22,296 patients in the IVF setting utilizing next generation DNA sequencing detects common, uncommon & otherwise undetectable mutations in prevalent, society-recommended disorders

A rigorous process for selecting an optimal mutation set for population-based carrier screening

High Carrier Screening Detection Rates Utilizing Next-Generation Sequencing

Carrier screening of 8,500 IVF patients utilizing next generation DNA sequencing detects common, rare and otherwise undetectable mutations across society-recommended diseases

Characterization of the Key Aroma Compounds in Apricots (Prunus armeniaca) by Application of the Molecular Sensory Science Concept

Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes

The γ-aminobutyric acid receptor γ3 subunit gene (GABRG3) is tightly linked to the α5 subunit gene (GABRA5) on human chromosome 15q11–q13 and is transcribed in the same orientation

A Putative Gene Family in 15q11-13 and 16p11.2: Possible Implications for Prader-Willi and Angelman Syndromes

A simple and nonradioactive method for detecting the Rb1.20 DNA polymorphism in the retinoblastoma gene

Epigenetic changes may contribute to the formation and spontaneous regression of retinoblastoma

Frequency and parental origin of hypermethylated RB1 alleles in retinoblastoma

Male teachers in elementary general music

Application of linkage analysis to genetic counselling in families with hereditary retinoblastoma

Cloning of the breakpoints of a submicroscopic deletion in an Angelman syndrome patient

No evidence for linkage between lipoprotein(a) (LPA) and esterase D (ESD)

Angelman syndrome associated with an inversion of chromosome 15q11.2q24.3

Molecular definition of the Prader — Willi syndrome chromosome region and orientation of the SNRPN gene

Mapping of the Angelman and Prader-Willi syndromes

The gamma-aminobutyric acid receptor gamma 3 subunit gene (GABRG3) is tightly linked to the alpha 5 subunit gene (GABRA5) on human chromosome 15q11-q13 and is transcribed in the same orientation

The critical region for Angelman syndrome lies between D15S122 and D15S113

Somatic mosaicism in a patient with bilateral retinoblastoma

Characterization of deletions at the retinoblastoma locus in patients with bilateral retinoblastoma

Possible involvement of the retinoblastoma gene in undifferentiated sinonasal carcinoma

A simple and nonradioactive method for detecting the Rb1. 20 DNA polymorphism in the retinoblastoma gene

Angelman syndrome associated with an inversion of chromosome l5ql1.2q24.3

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