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Mutations in EZH2 Cause Weaver Syndrome

American journal of human genetics, 2012-01, Vol.90 (1), p.110-118

2012

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The progression of Wiedemann–Steiner syndrome in adulthood and two novel variants in the KMT2A gene

American journal of medical genetics. Part A, 2019-02, Vol.179 (2), p.300-305

2019

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Occipital Horn Syndrome as a Result of Splice Site Mutations in ATP7A . No Activity of ATP7A Splice Variants Missing Exon 10 or Exon 15

Frontiers in molecular neuroscience, 2021-04, Vol.14, p.532291-532291

2021

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Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1

PloS one, 2014-09, Vol.9 (9), p.e107028

2014

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PRC2‐complex related dysfunction in overgrowth syndromes: A review of EZH2, EED, and SUZ12 and their syndromic phenotypes

American journal of medical genetics. Part C, Seminars in medical genetics, 2019-12, Vol.181 (4), p.519-531

2019

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A case of MBTPS1‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome

American journal of medical genetics. Part A, 2024-05, Vol.194 (5), p.e63499-n/a

2024

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Setleis syndrome due to inheritance of the 1p36.22p36.21 duplication: evidence for lack of penetrance

Journal of human genetics, 2015-11, Vol.60 (11), p.717-722

2015

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Cyclopia (synophthalmia) in Smith-Lemli-Opitz syndrome: First reported case and consideration of mechanism

American journal of medical genetics. Part C, Seminars in medical genetics, 2010-02, Vol.154C (1), p.142-145

2010

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Phenotypic spectrum of mosaic trisomy 18: Two new patients, a literature review, and counseling issues

American journal of medical genetics. Part A, 2007-03, Vol.143A (5), p.505-517

2007

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Novel phenotype of 5p13.3-q11.2 duplication resulting from supernumerary marker chromosome 5: implications for management and genetic counseling

Molecular cytogenetics, 2018-03, Vol.11 (1), p.23-9, Article 23

2018

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Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5

American journal of human genetics, 2014-05, Vol.94 (5), p.734-744

2014

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A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

Nature genetics, 2010-03, Vol.42 (3), p.203-209

2010

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Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro

Human mutation, 2016-03, Vol.37 (3), p.301-307

2016

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EVEN‐PLUS syndrome: A case report with novel variants in HSPA9 and evidence of HSPA9 gene dysfunction

American journal of medical genetics. Part A, 2020-11, Vol.182 (11), p.2501-2507

2020

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Klinefelter's Syndrome with Maternal Uniparental Disomy X, Interstitial Xp22.31 Deletion, X-linked Ichthyosis, and Severe Central Nervous System Regression

Journal of pediatric genetics (Birmingham, Ala.), 2021-09, Vol.10 (3), p.222-229

2021

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Positive cell-free fetal DNA testing for trisomy 13 reveals confined placental mosaicism

Genetics in medicine, 2013-09, Vol.15 (9), p.729-732

2013

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Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes

European journal of human genetics : EJHG, 2011-05, Vol.19 (5), p.547-554

2011

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An apparent new syndrome of extreme short stature, microcephaly, dysmorphic faces, intellectual disability, and a bone dysplasia of unknown etiology

American journal of medical genetics. Part A, 2020-07, Vol.182 (7), p.1562-1571

2020

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Personal journeys to and in human genetics and dysmorphology

American journal of medical genetics. Part A, 2024-06, Vol.194 (6), p.e63514-n/a

2024

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Response to Hamosh et al

American journal of human genetics, 2021-09, Vol.108 (9), p.1809-1810

2021

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A tale of two deletions: A report of two novel 20p13 → pter deletions

American journal of medical genetics. Part A, 2010-04, Vol.152A (4), p.1000-1007

2010

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A distinct X-linked syndrome involving joint contractures, keloids, large optic cup-to-disc ratio, and renal stones results from a filamin A (FLNA) mutation

American journal of medical genetics. Part A, 2016-04, Vol.170A (4), p.881-890

2016

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An unusual cause for Coffin–Lowry syndrome: Three brothers with a novel microduplication in RPS6KA3

American journal of medical genetics. Part A, 2019-12, Vol.179 (12), p.2357-2364

2019

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Mutations in EZH2 Cause Weaver Syndrome

Mutations in the Endothelin Receptor Type A Cause Mandibulofacial Dysostosis with Alopecia

The progression of Wiedemann–Steiner syndrome in adulthood and two novel variants in the KMT2A gene

Occipital Horn Syndrome as a Result of Splice Site Mutations in ATP7A . No Activity of ATP7A Splice Variants Missing Exon 10 or Exon 15

Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1

PRC2‐complex related dysfunction in overgrowth syndromes: A review of EZH2, EED, and SUZ12 and their syndromic phenotypes

A case of MBTPS1‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome

Setleis syndrome due to inheritance of the 1p36.22p36.21 duplication: evidence for lack of penetrance

Cyclopia (synophthalmia) in Smith-Lemli-Opitz syndrome: First reported case and consideration of mechanism

Phenotypic spectrum of mosaic trisomy 18: Two new patients, a literature review, and counseling issues

Novel phenotype of 5p13.3-q11.2 duplication resulting from supernumerary marker chromosome 5: implications for management and genetic counseling

Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro

EVEN‐PLUS syndrome: A case report with novel variants in HSPA9 and evidence of HSPA9 gene dysfunction

Klinefelter's Syndrome with Maternal Uniparental Disomy X, Interstitial Xp22.31 Deletion, X-linked Ichthyosis, and Severe Central Nervous System Regression

Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study

Positive cell-free fetal DNA testing for trisomy 13 reveals confined placental mosaicism

Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes

An apparent new syndrome of extreme short stature, microcephaly, dysmorphic faces, intellectual disability, and a bone dysplasia of unknown etiology

Personal journeys to and in human genetics and dysmorphology

Response to Hamosh et al

A tale of two deletions: A report of two novel 20p13 → pter deletions

A distinct X-linked syndrome involving joint contractures, keloids, large optic cup-to-disc ratio, and renal stones results from a filamin A (FLNA) mutation

An unusual cause for Coffin–Lowry syndrome: Three brothers with a novel microduplication in RPS6KA3

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