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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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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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ABCA12 Is the Major Harlequin Ichthyosis Gene

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

2006

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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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Clinical Manifestations of Noonan Syndrome and Related Disorders

Pediatric endocrinology reviews : PER, 2019-05, Vol.16 (Suppl 2), p.428

2019

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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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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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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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De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features

American journal of human genetics, 2024-04, Vol.111 (4), p.778-790

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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De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features

American journal of human genetics, 2024-06, Vol.111 (6), p.1240-1240

2024

Volltextzugriff (PDF)

Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients

Journal of human genetics, 2019-12, Vol.64 (12), p.1173-1186

2019

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Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy

Molecular genetics and metabolism, 2013-11, Vol.110 (3), p.345-351

2013

Volltextzugriff (PDF)

Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome

American journal of medical genetics, 2003-12, Vol.123A (3), p.236-242

2003

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Features of Feingold syndrome 1 dominate in subjects with 2p deletions including MYCN

American journal of medical genetics. Part A, 2018-09, Vol.176 (9), p.1956-1963

2018

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46,XY disorder of sex development and developmental delay associated with a novel 9q33.3 microdeletion encompassing NR5A1

European journal of medical genetics, 2013-11, Vol.56 (11), p.619-623

2013

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Cleft lip and/or palate: one organization's experience with more than a quarter million surgeries during the past decade

The Journal of craniofacial surgery, 2014-09, Vol.25 (5), p.1601-1609

2014

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Phenotypic heterogeneity in a family with a small atypical microduplication of chromosome 22q11.2 involving TBX1

European journal of medical genetics, 2012-12, Vol.55 (12), p.732-736

2012

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Atypical Chédiak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative disease

Orphanet journal of rare diseases, 2013-03, Vol.8 (1), p.46-46

2013

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The Mount Sinai clinical pathway for the management of pheochromocytoma

Endocrine practice, 2015-04, Vol.21 (4), p.368-382

2015

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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

Molecular Genetics of Noonan Syndrome and RASopathies

Hereditary Renal Diseases

ABCA12 Is the Major Harlequin Ichthyosis Gene

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

Clinical Manifestations of Noonan Syndrome and Related Disorders

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

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

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

De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features

Chromosomal Microarray Detection of Constitutional Copy Number Variation Using Saliva DNA

De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features

Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients

Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy

Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome

Features of Feingold syndrome 1 dominate in subjects with 2p deletions including MYCN

46,XY disorder of sex development and developmental delay associated with a novel 9q33.3 microdeletion encompassing NR5A1

Cleft lip and/or palate: one organization's experience with more than a quarter million surgeries during the past decade

Phenotypic heterogeneity in a family with a small atypical microduplication of chromosome 22q11.2 involving TBX1

Atypical Chédiak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative disease

The Mount Sinai clinical pathway for the management of pheochromocytoma

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