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P424: An unusual recombinant chromosome 6 derived from a parental double paracentric inversion

Genetics in Medicine Open, 2023, Vol.1 (1), p.100471, Article 100471

2023

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Microduplication and Triplication of 22q11.2: A Highly Variable Syndrome

American journal of human genetics, 2005-05, Vol.76 (5), p.865-876

2005

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Clinically significant findings in a decade‐long retrospective study of prenatal chromosomal microarray testing

Molecular genetics & genomic medicine, 2024-03, Vol.12 (3), p.e2349-n/a

2024

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P070: Discerning the meaning of cancer predisposition variants in a pediatric cancer cohort

Genetics in Medicine Open, 2023, Vol.1 (1), p.100089, Article 100089

2023

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O13: Clinical validation of copy number alteration using paired tumor-normal exome sequencing: Challenges and successes

Genetics in Medicine Open, 2023, Vol.1 (1), p.100057, Article 100057

2023

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P654: Evaluation of the ClinGen/CGC/VICC Oncogenicity Guidelines to support pediatric variant classification workflows

Genetics in Medicine Open, 2023, Vol.1 (1), p.100719, Article 100719

2023

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New cases and refinement of the critical region in the 1q41q42 microdeletion syndrome

European journal of medical genetics, 2011-01, Vol.54 (1), p.42-49

2011

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Chromosome 2q12.3-q13 copy number variants in patients with neurodevelopmental disorders: genotype-phenotype correlation and new hotspots

Psychiatric genetics, 2022-10, Vol.32 (5), p.171

2022

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Reproductive outcomes in individuals with chromosomal reciprocal translocations

Genetics in medicine, 2021-09, Vol.23 (9), p.1753-1760

2021

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eP495 - Reproductive outcomes in carriers of chromosomal reciprocal translocations

Molecular genetics and metabolism, 2021-04, Vol.132, p.S318-S318

2021

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Reproductive outcomes in carriers of chromosomal reciprocal translocations

Molecular genetics and metabolism, 2021-04, Vol.132, p.S318

2021

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Clinical Cytogenetics: Current Practices and Beyond

The journal of applied laboratory medicine, 2024-01, Vol.9 (1), p.61-75

2024

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Shuffling of genes within low-copy repeats on 22q11 (LCR22) by Alu-mediated recombination events during evolution

Genome research, 2003-12, Vol.13 (12), p.2519

2003

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Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes

Nature genetics, 2000-09, Vol.26 (1), p.103-105

Syndrome Consortium, The May-Hegglin/Fechtner

2000

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Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams-Beuren syndrome

American journal of medical genetics. Part A, 2013-03, Vol.161A (3), p.527-533

2013

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AT-rich repeats associated with chromosome 22q11.2 rearrangement disorders shape human genome architecture on Yq12

Genome Research, 2007-04, Vol.17 (4), p.451-460

2007

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Dextrocardia, atrial septal defect, severe developmental delay, facial anomalies, and supernumerary ribs in a child with a complex unbalanced 8;22 translocation including partial 8p duplication

American journal of medical genetics. Part A, 2012-03, Vol.158A (3), p.641-647

2012

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GJB2 mutation spectrum in 209 hearing impaired individuals of predominantly Caribbean Hispanic and African descent

International journal of pediatric otorhinolaryngology, 2010-06, Vol.74 (6), p.611-618

2010

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Mutational analysis of HOXA2 and SIX2 in a Bronx population with isolated microtia

International journal of pediatric otorhinolaryngology, 2010-08, Vol.74 (8), p.878-882

2010

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Hominoid lineage specific amplification of low-copy repeats on 22q11.2 (LCR22s) associated with velo-cardio-facial/digeorge syndrome

Human molecular genetics, 2007-11, Vol.16 (21), p.2560-2571

2007

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Mutational analysis of APOL1 in patients with Fechtner and Epstein syndromes: no evidence of a digenic etiology in MYH9-related disorders with renal disease

Advances in genomics and genetics, 2012-07, Vol.2, p.49

2012

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Molecular characterization of an interstitial deletion of 1p31.3 in a patient with obesity and psychiatric illness and a review of the literature

American journal of medical genetics. Part A, 2011-04, Vol.155 (4), p.825-832

2011

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709: Gene expression profiling of lymphoblastic cell lines from monosomy 1p36 patients reveals differential regulation (expression) of cardiac and neurologic relevant genes

American journal of obstetrics and gynecology, 2009-12, Vol.201 (6), p.S257-S257

2009

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P424: An unusual recombinant chromosome 6 derived from a parental double paracentric inversion

Microduplication and Triplication of 22q11.2: A Highly Variable Syndrome

Clinically significant findings in a decade‐long retrospective study of prenatal chromosomal microarray testing

P070: Discerning the meaning of cancer predisposition variants in a pediatric cancer cohort

O13: Clinical validation of copy number alteration using paired tumor-normal exome sequencing: Challenges and successes

P654: Evaluation of the ClinGen/CGC/VICC Oncogenicity Guidelines to support pediatric variant classification workflows

Genotype–phenotype correlation in interstitial 6q deletions: a report of 12 new cases

New cases and refinement of the critical region in the 1q41q42 microdeletion syndrome

Chromosome 2q12.3-q13 copy number variants in patients with neurodevelopmental disorders: genotype-phenotype correlation and new hotspots

Reproductive outcomes in individuals with chromosomal reciprocal translocations

eP495 - Reproductive outcomes in carriers of chromosomal reciprocal translocations

Reproductive outcomes in carriers of chromosomal reciprocal translocations

58. Implementing the ClinGen/CGC/VICC oncogenicity guidelines in a pediatric variant classification workflow

Clinical Cytogenetics: Current Practices and Beyond

Shuffling of genes within low-copy repeats on 22q11 (LCR22) by Alu-mediated recombination events during evolution

Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes

Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams-Beuren syndrome

AT-rich repeats associated with chromosome 22q11.2 rearrangement disorders shape human genome architecture on Yq12

Dextrocardia, atrial septal defect, severe developmental delay, facial anomalies, and supernumerary ribs in a child with a complex unbalanced 8;22 translocation including partial 8p duplication

GJB2 mutation spectrum in 209 hearing impaired individuals of predominantly Caribbean Hispanic and African descent

Mutational analysis of HOXA2 and SIX2 in a Bronx population with isolated microtia

Hominoid lineage specific amplification of low-copy repeats on 22q11.2 (LCR22s) associated with velo-cardio-facial/digeorge syndrome

Mutational analysis of APOL1 in patients with Fechtner and Epstein syndromes: no evidence of a digenic etiology in MYH9-related disorders with renal disease

Molecular characterization of an interstitial deletion of 1p31.3 in a patient with obesity and psychiatric illness and a review of the literature

709: Gene expression profiling of lymphoblastic cell lines from monosomy 1p36 patients reveals differential regulation (expression) of cardiac and neurologic relevant genes

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