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P200: A novel 13q31.3q32.3 deletion identified on follow up of an inconclusive prenatal cell-Free DNA screening for trisomy 13

Genetics in Medicine Open, 2024, Vol.2, p.101097

2024

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P242: Tissue specific pathogenic NIPBL variant causing Cornelia de Lange syndrome: A call to clinicians

Genetics in Medicine Open, 2024, Vol.2, p.101138

2024

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P118: Genotype-phenotype correlations in a female with a chromosome Xp11.23 deletion including PORCN and EBP

Genetics in Medicine Open, 2023, Vol.1 (1), p.100147, Article 100147

2023

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Cardiovascular manifestations of hypermobile Ehlers–Danlos syndrome and hypermobility spectrum disorders

Vascular medicine (London, England), 2022-06, Vol.27 (3), p.283-289

2022

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Expansion of phenotype and genotypic data in CRB2-related syndrome

European journal of human genetics : EJHG, 2016-10, Vol.24 (10), p.1436-1444

2016

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Genetic Techniques in the Evaluation of Short Stature

Endocrinology and metabolism clinics of North America, 2016-06, Vol.45 (2), p.345-358

2016

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Pompe disease: Dramatic improvement in gastrointestinal function following enzyme replacement therapy. A report of three later-onset patients

Molecular genetics and metabolism, 2010-10, Vol.101 (2-3), p.130-133

2010

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Molecular Genetics of Noonan Syndrome and RASopathies

Pediatric endocrinology reviews : PER, 2019-05, Vol.16 (Suppl 2), p.435

2019

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Hereditary Renal Diseases

Seminars in nephrology, 2017-07, Vol.37 (4), p.354-361

2017

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Prenatal cytogenomic identification and molecular refinement of compound heterozygous STRC deletion breakpoints

Molecular genetics & genomic medicine, 2019-08, Vol.7 (8), p.e806-n/a

2019

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ABCA12 Is the Major Harlequin Ichthyosis Gene

Journal of investigative dermatology, 2006-11, Vol.126 (11), p.2408-2413

2006

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Clinical and molecular characterization of chromosome 7p22.1 microduplication detected by array CGH

American journal of medical genetics. Part A, 2011-10, Vol.155 (10), p.2508-2511

2011

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eP274 - Maternal age and malformations due to vascular disruptions: a review of the New York State Congenital Malformations Registry from 1990–2016

Molecular genetics and metabolism, 2021-04, Vol.132, p.S172-S172

2021

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Maternal age and malformations due to vascular disruptions: a review of the New York State Congenital Malformations Registry from 1990–2016

Molecular genetics and metabolism, 2021-04, Vol.132, p.S172

2021

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eP161: Homozygous deletion of the terminal exon of DSG3 associated with acantholytic blistering of the oral and laryngeal mucosa

Genetics in medicine, 2022-03, Vol.24 (3), p.S98-S99

2022

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Defining a holoprosencephaly locus on human chromosome 14q13 and characterization of potential candidate genes

Genomics (San Diego, Calif.), 2005-05, Vol.85 (5), p.608-621

2005

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eP223 - Homozygous GDF1 mutation causing congenital heart defects in Ashkenazi Jewish families

Molecular genetics and metabolism, 2021-04, Vol.132, p.S143-S143

2021

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Further characterization of fetal, cardiac and extra-cardiac manifestations of TAB-2 related disorder

Molecular genetics and metabolism, 2021-04, Vol.132, p.S129

2021

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eP198 - Further characterization of fetal, cardiac and extra-cardiac manifestations of TAB-2 related disorder

Molecular genetics and metabolism, 2021-04, Vol.132, p.S129-S129

2021

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Homozygous GDF1 mutation causing congenital heart defects in Ashkenazi Jewish families

Molecular genetics and metabolism, 2021-04, Vol.132, p.S143

2021

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CRB2 Mutations Produce a Phenotype Resembling Congenital Nephrosis, Finnish Type, with Cerebral Ventriculomegaly and Raised Alpha-Fetoprotein

American journal of human genetics, 2015-01, Vol.96 (1), p.162-169

2015

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Headaches in hypermobility syndromes: A pain in the neck?

American journal of medical genetics. Part A, 2020-12, Vol.182 (12), p.2902-2908

2020

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Dysautonomia in hypermobile Ehlers–Danlos syndrome and hypermobility spectrum disorders is associated with exercise intolerance and cardiac atrophy

American journal of medical genetics. Part A, 2021-12, Vol.185 (12), p.3754-3761

2021

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Homozygous deletion of the DSG3 terminal exon associated with acantholytic blistering of the oral and laryngeal mucosa

American journal of medical genetics. Part A, 2024-02, Vol.194 (2), p.389-393

2024

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Chromosomal Microarray Detection of Constitutional Copy Number Variation Using Saliva DNA

The Journal of molecular diagnostics : JMD, 2017-05, Vol.19 (3), p.397-403

2017

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P200: A novel 13q31.3q32.3 deletion identified on follow up of an inconclusive prenatal cell-Free DNA screening for trisomy 13

P242: Tissue specific pathogenic NIPBL variant causing Cornelia de Lange syndrome: A call to clinicians

P118: Genotype-phenotype correlations in a female with a chromosome Xp11.23 deletion including PORCN and EBP

Cardiovascular manifestations of hypermobile Ehlers–Danlos syndrome and hypermobility spectrum disorders

Expansion of phenotype and genotypic data in CRB2-related syndrome

Genetic Techniques in the Evaluation of Short Stature

Pompe disease: Dramatic improvement in gastrointestinal function following enzyme replacement therapy. A report of three later-onset patients

Molecular Genetics of Noonan Syndrome and RASopathies

Hereditary Renal Diseases

Prenatal cytogenomic identification and molecular refinement of compound heterozygous STRC deletion breakpoints

ABCA12 Is the Major Harlequin Ichthyosis Gene

Clinical and molecular characterization of chromosome 7p22.1 microduplication detected by array CGH

eP274 - Maternal age and malformations due to vascular disruptions: a review of the New York State Congenital Malformations Registry from 1990–2016

Maternal age and malformations due to vascular disruptions: a review of the New York State Congenital Malformations Registry from 1990–2016

eP161: Homozygous deletion of the terminal exon of DSG3 associated with acantholytic blistering of the oral and laryngeal mucosa

Defining a holoprosencephaly locus on human chromosome 14q13 and characterization of potential candidate genes

eP223 - Homozygous GDF1 mutation causing congenital heart defects in Ashkenazi Jewish families

Further characterization of fetal, cardiac and extra-cardiac manifestations of TAB-2 related disorder

eP198 - Further characterization of fetal, cardiac and extra-cardiac manifestations of TAB-2 related disorder

Homozygous GDF1 mutation causing congenital heart defects in Ashkenazi Jewish families

CRB2 Mutations Produce a Phenotype Resembling Congenital Nephrosis, Finnish Type, with Cerebral Ventriculomegaly and Raised Alpha-Fetoprotein

Headaches in hypermobility syndromes: A pain in the neck?

Dysautonomia in hypermobile Ehlers–Danlos syndrome and hypermobility spectrum disorders is associated with exercise intolerance and cardiac atrophy

Homozygous deletion of the DSG3 terminal exon associated with acantholytic blistering of the oral and laryngeal mucosa

Chromosomal Microarray Detection of Constitutional Copy Number Variation Using Saliva DNA

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