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Novel Phenotype in Unbalanced 7;9 Translocation with Critical Incidental Finding

Case reports in genetics, 2022-05, Vol.2022, p.7510079-5

2022

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Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic‐dyskinetic encephalopathy

Human mutation, 2020-07, Vol.41 (7), p.1263-1279

2020

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Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy

Human mutation, 2020-07, Vol.41 (7), p.1263-1279

2020

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Case report: Novel phenotype in central 22q11.2 deletion syndrome

Clinical case reports, 2020-12, Vol.8 (12), p.3297-3302

2020

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Ebstein anomaly, left ventricular non-compaction, and early onset heart failure associated with a de novo α-tropomyosin gene mutation

American journal of medical genetics. Part A, 2016-08, Vol.170A (8), p.2186-2190

2016

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Ebstein anomaly, left ventricular non-compaction, and early onset heart failure associated with a de novo [alpha]-tropomyosin gene mutation

American journal of medical genetics. Part A, 2016-08, Vol.170 (8), p.2186

2016

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A case series of a mother and two daughters with a GLI2 gene deletion demonstrating variable expressivity and incomplete penetrance

Clinical case reports, 2020-11, Vol.8 (11), p.2138-2144

2020

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Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth

PLoS genetics, 2014-05, Vol.10 (5), p.e1004333

2014

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Novel phenotype in unbalanced 7;9 translocation with critical incidental finding

Molecular genetics and metabolism, 2021-04, Vol.132, p.S83

2021

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eP125 - Novel phenotype in unbalanced 7;9 translocation with critical incidental finding

Molecular genetics and metabolism, 2021-04, Vol.132, p.S83-S83

2021

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Lisch nodules and iris mammillations in two siblings with familial legius syndrome

Clinical case reports, 2020-10, Vol.8 (10), p.1867-1871

2020

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Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder

Genetics in medicine, 2020-04, Vol.22 (4), p.822-822

2020

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P348: De novo missense variants in ZBTB47 cause a neurodevelopmental phenotype of developmental delays, seizures, and possible movement abnormalities

Genetics in Medicine Open, 2023, Vol.1 (1), p.100376, Article 100376

2023

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Early‐Onset Heart Failure, Alopecia, and Cutaneous Abnormalities Associated with a Novel Compound Heterozygous Mutation in Desmoplakin

Pediatric dermatology, 2015-01, Vol.32 (1), p.102-108

2015

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Rare presentation of 6q16.3 microdeletion syndrome with severe upper limb reduction defects and duodenal atresia

Clinical case reports, 2017-06, Vol.5 (6), p.905-914

2017

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Tuberous sclerosis complex: Five new things

Neurology. Clinical practice, 2016-08, Vol.6 (4), p.339-347

2016

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Expanding the phenotype of Harel‐Yoon syndrome: A case report suggesting a genotype/phenotype correlation

American journal of medical genetics. Part A, 2024-10, Vol.194 (10), p.e63647-n/a

2024

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Somatic Mosaicism of PCDH19 in a male with early infantile epileptic encephalopathy and review of the literature

American journal of medical genetics. Part A, 2017-06, Vol.173 (6), p.1625-1630

2017

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KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation

Brain (London, England : 1878), 2020-11, Vol.143 (11), p.3242-3261

2020

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Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism

American journal of human genetics, 2019-05, Vol.104 (5), p.957-967

2019

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Novel case of paternal paracentric inversion causing partial trisomy 13 and review of the literature

American journal of medical genetics. Part A, 2017-06, Vol.173 (6), p.1673-1680

2017

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Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

Molecular psychiatry, 2023-02, Vol.28 (2), p.668-697

2023

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Case 3: Premature Infant with Bilateral Choanal Atresia and Esophageal Atresia/Tracheoesophageal Fistula

Neoreviews (Elk Grove Village, Ill.), 2020-08, Vol.21 (8), p.e577-e579

2020

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Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes

European journal of human genetics : EJHG, 2024-07

2024

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Novel Phenotype in Unbalanced 7;9 Translocation with Critical Incidental Finding

Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic‐dyskinetic encephalopathy

Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy

Case report: Novel phenotype in central 22q11.2 deletion syndrome

Ebstein anomaly, left ventricular non-compaction, and early onset heart failure associated with a de novo α-tropomyosin gene mutation

Ebstein anomaly, left ventricular non-compaction, and early onset heart failure associated with a de novo [alpha]-tropomyosin gene mutation

A case series of a mother and two daughters with a GLI2 gene deletion demonstrating variable expressivity and incomplete penetrance

Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth

Novel phenotype in unbalanced 7;9 translocation with critical incidental finding

eP125 - Novel phenotype in unbalanced 7;9 translocation with critical incidental finding

Lisch nodules and iris mammillations in two siblings with familial legius syndrome

Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder

P348: De novo missense variants in ZBTB47 cause a neurodevelopmental phenotype of developmental delays, seizures, and possible movement abnormalities

Early‐Onset Heart Failure, Alopecia, and Cutaneous Abnormalities Associated with a Novel Compound Heterozygous Mutation in Desmoplakin

Rare presentation of 6q16.3 microdeletion syndrome with severe upper limb reduction defects and duodenal atresia

Tuberous sclerosis complex: Five new things

Expanding the phenotype of Harel‐Yoon syndrome: A case report suggesting a genotype/phenotype correlation

Somatic Mosaicism of PCDH19 in a male with early infantile epileptic encephalopathy and review of the literature

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation

Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism

Novel case of paternal paracentric inversion causing partial trisomy 13 and review of the literature

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

Case 3: Premature Infant with Bilateral Choanal Atresia and Esophageal Atresia/Tracheoesophageal Fistula

Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes

FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants

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