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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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Molecular Genetics of Noonan Syndrome and RASopathies

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

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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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 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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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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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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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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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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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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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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Complex autism spectrum disorder in a patient with a 17q12 microduplication

American journal of medical genetics. Part A, 2012-05, Vol.158A (5), p.1170-1177

2012

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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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8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients

American journal of medical genetics. Part A, 2013-03, Vol.161A (3), p.487-500

2013

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In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis

Cold Spring Harbor molecular case studies, 2018-10, Vol.4 (5), p.a003160

2018

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ClinLabGeneticist: a tool for clinical management of genetic variants from whole exome sequencing in clinical genetic laboratories

Genome medicine, 2015-07, Vol.7 (1), p.77-77, Article 77

2015

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Carrier state for the nebulin exon 55 deletion and abnormal prenatal ultrasound findings as potential signs of nemaline myopathy

Prenatal diagnosis, 2012-01, Vol.32 (1), p.70-74

2012

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17q12 Deletion in a patient with Williams syndrome: Case report and review of the literature

Journal of pediatric genetics (Birmingham, Ala.), 2012-06, Vol.1 (2), p.135-141

2012

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Lateral nasal proboscis: antenatal diagnosis and counseling

Obstetrics and gynecology (New York. 1953), 1999-11, Vol.94 (5), p.815-817

1999

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Study of bacterial population dynamics in seed culture developed for ammonia reduction from synthetic wastewater

World journal of microbiology & biotechnology, 2024-02, Vol.40 (2), p.75-75, Article 75

2024

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Liver disease and outcomes among COVID-19 hospitalized patients – A systematic review and meta-analysis

Annals of hepatology, 2021-03, Vol.21, p.100273-100273, Article 100273

2021

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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

Molecular Genetics of Noonan Syndrome and RASopathies

ABCA12 Is the Major Harlequin Ichthyosis Gene

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

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

Clinical Manifestations of Noonan Syndrome and Related Disorders

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

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

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

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

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

Complex autism spectrum disorder in a patient with a 17q12 microduplication

The Mount Sinai clinical pathway for the management of pheochromocytoma

8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients

In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis

ClinLabGeneticist: a tool for clinical management of genetic variants from whole exome sequencing in clinical genetic laboratories

Carrier state for the nebulin exon 55 deletion and abnormal prenatal ultrasound findings as potential signs of nemaline myopathy

17q12 Deletion in a patient with Williams syndrome: Case report and review of the literature

Lateral nasal proboscis: antenatal diagnosis and counseling

Study of bacterial population dynamics in seed culture developed for ammonia reduction from synthetic wastewater

Liver disease and outcomes among COVID-19 hospitalized patients – A systematic review and meta-analysis

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