F. Quintero-Rivera

发表

Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project.

J. Shendure, M. MacDonald, S. Kulkarni, 2008, American journal of human genetics.

Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis.

Ryan L. Collins, D. Warburton, J. Gusella, 2016, American journal of human genetics.

Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome

Ryan L. Collins, Joon-Yong An, Stephan J. Sanders, 2017, Genome Biology.

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants

S. South, E. Thorland, Kerry K. Brown, 2011, Genetics in Medicine.

Clinical exome sequencing for genetic identification of rare Mendelian disorders.

Eric Vilain, Samuel P Strom, Michelle Fox, 2014, JAMA.

Hemifacial microsomia in cat‐eye syndrome: 22q11.1–q11.21 as candidate loci for facial symmetry

F. Quintero-Rivera, J. Martinez-Agosto, 2013, American journal of medical genetics. Part A.

14q32.11 microdeletion including CALM1, TTC7B, PSMC1, and RPS6KA5: A new potential cause of developmental and language delay in three unrelated patients

F. Quintero-Rivera, J. Martinez-Agosto, R. Signer, 2021, American journal of medical genetics. Part A.

Assessing copy number abnormalities and copy-neutral loss-of-heterozygosity across the genome as best practice in diagnostic evaluation of acute myeloid leukemia: An evidence-based review from the cancer genomics consortium (CGC) myeloid neoplasms working group.

M. Slovak, F. Quintero-Rivera, G. Raca, 2018, Cancer genetics.

Assessing copy number aberrations and copy neutral loss of heterozygosity across the genome as best practice: An evidence based review of clinical utility from the cancer genomics consortium (CGC) working group for myelodysplastic syndrome, myelodysplastic/myeloproliferative and myeloproliferative n

M. Slovak, F. Quintero-Rivera, G. Raca, 2018, Cancer genetics.

Intracranial anomalies detected by imaging studies in 30 patients with Apert syndrome

J. Mulliken, D. Levine, F. Quintero-Rivera, 2006, American journal of medical genetics. Part A.

FGFR3 amplification in the absence of IGH@-FGFR3 fusion t(4;14) in myeloma.

P. N. Rao, F. Quintero-Rivera, Riem El-Sabbagh Badr, 2009, Cancer genetics and cytogenetics.

Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux.

J. Lupski, C. Wijmenga, S. Kulkarni, 2007, American journal of human genetics.

5q35 duplication presents with psychiatric and undergrowth phenotypes mediated by NSD1 overexpression and mTOR signaling downregulation

D. Earl, F. Quintero-Rivera, M. Nowaczyk, 2021, Human Genetics.

Gene-environment regulatory circuits of right ventricular pathology in tetralogy of fallot

S. Nelson, J. Finn, W. Grody, 2019, Journal of Molecular Medicine.

Pontocerebellar hypoplasia in association with de novo 19p13.11p13.12 microdeletion

N. Salamon, F. Quintero-Rivera, K. Dipple, 2011, American journal of medical genetics. Part A.

Hi-C Identiﬁes Complex Genomic Rearrangements and TAD-Shufﬂing in Developmental Diseases

S. Mundlos, M. Spielmann, M. Vingron, 2020 .

2022 Association of Professors of Human and Medical Genetics (APHMG) consensus-based update of the core competencies for undergraduate medical education in genetics and genomics.

A. Popejoy, A. Philp, F. Quintero-Rivera, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing

Joshua L. Deignan, S. Nelson, W. Grody, 2014, BMC Medical Genetics.

Familial Microdeletion of 17q24.3 Upstream of SOX9 Is Associated With Isolated Pierre Robin Sequence Due to Position Effect

F. Quintero-Rivera, K. Dipple, I. Amarillo, 2013, American journal of medical genetics. Part A.

B‐Acute lymphoblastic leukemia and cystinuria in a patient with duplication 22q11.21 detected by chromosomal microarray analysis

F. Quintero-Rivera, J. Martinez-Agosto, Vivian Y. Chang, 2011, Pediatric blood & cancer.

Trisomy 3, a sole recurrent cytogenetic abnormality in pediatric polymorphic post-transplant lymphoproliferative disorder (PTLD).

F. Quintero-Rivera, A. Shestakova, J. Said, 2020, Cancer genetics.

Duodenal atresia in 17q12 microdeletion including HNF1B: A new associated malformation in this syndrome

Jennifer S. Woo, W. Wallace, F. Quintero-Rivera, 2014, American journal of medical genetics. Part A.

Recessive ciliopathy mutations in primary endocardial fibroelastosis: a rare neonatal cardiomyopathy in a case of Alstrom syndrome

Ryan J. Schmidt, S. Nelson, W. Grody, 2021, Journal of Molecular Medicine.

Inherited thrombophilia is associated with deep vein thrombosis in a Colombian population

G. Bedoya, F. Quintero-Rivera, Á. Cadavid, 2006, American journal of hematology.

Gene-environment regulation of chamber-specific maturation during hypoxemic perinatal circulatory transition

S. Nelson, W. Grody, F. Quintero-Rivera, 2020, Journal of Molecular Medicine.

Microdeletion of 1p32-p31 involving NFIA in a patient with hypoplastic corpus callosum, ventriculomegaly, seizures and urinary tract defects.

N. Salamon, F. Quintero-Rivera, J. Ji, 2014, European journal of medical genetics.

Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases.

Martin Vingron, Stefan Mundlos, Manuel Holtgrewe, 2020, American journal of human genetics.

Clinical Findings Associated with a De Novo Partial Trisomy 10p11.22p15.3 and Monosomy 7p22.3 Detected by Chromosomal Microarray Analysis

Omid Kohannim, F. Quintero-Rivera, K. Dipple, 2011, Case reports in genetics.

Frequency of 5'IGH deletions in B-cell chronic lymphocytic leukemia.

P. N. Rao, F. Quintero-Rivera, F. Nooraie, 2009, Cancer genetics and cytogenetics.

Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome

Ryan L. Collins, Joseph T. Glessner, Stephan J Sanders, 2017, Genome Biology.

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies

Joshua L. Deignan, Jessie R Jackson, E. Zackai, 2015, European Journal of Human Genetics.

The Feasibility and Outcomes of Genetic Testing for Autism and Neurodevelopmental Disorders on an Inpatient Child and Adolescent Psychiatry Service

F. Quintero-Rivera, J. Martinez-Agosto, M. DeAntonio, 2020, Autism research : official journal of the International Society for Autism Research.

The Implementation, Diagnostic Yield and Clinical Outcome of Genetic Testing on an Inpatient Child and Adolescent Psychiatry Service

F. Quintero-Rivera, J. Martinez-Agosto, M. DeAntonio, 2019 .

NFIA Haploinsufficiency Is Associated with a CNS Malformation Syndrome and Urinary Tract Defects

C. Walsh, K. Devriendt, J. Gusella, 2007, PLoS genetics.

Pathogenic paternally inherited NLGN4X deletion in a female with autism spectrum disorder: Clinical, cytogenetic, and molecular characterization

F. Quintero-Rivera, J. Martinez-Agosto, Nathan D Kopp, 2020, American journal of medical genetics. Part A.

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

I. Krantz, H. Hakonarson, E. Roeder, 2014, Human molecular genetics.

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

Marni J. Falk, E. Zackai, C. Cytrynbaum, 2021, American journal of medical genetics. Part A.

Cleft Lip and Palate in a Patient with 5q35.2-q35.3 Microdeletion: The Importance of Chromosomal Microarray Testing in the Craniofacial Clinic

F. Quintero-Rivera, J. Bradley, K. Dipple, 2013, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

Deletion (1)(p32.2–p32.3) detected by array‐CGH in a patient with developmental delay/mental retardation, dysmorphic features and low cholesterol: A new microdeletion syndrome?

P. N. Rao, F. Quintero-Rivera, T. Leren, 2008, American journal of medical genetics. Part A.

De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay.

Joshua L. Deignan, S. Nelson, W. Grody, 2015, American journal of human genetics.

Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.

Joshua L. Deignan, D. Geschwind, S. Nelson, 2014, JAMA neurology.

Disruption of ROBO2 Is Associated with Urinary Tract Anomalies and Confers Risk of Vesicoureteral Reflux

J. Lupski, C. Wijmenga, S. Kulkarni, 2007 .

MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus

Ronald Berezney, Kasper Lage, Raymond M. Anchan, 2015, Human molecular genetics.

MATR 3 disruption in human and mouse associated with bicuspid aortic valve , aortic coarctation and patent ductus arteriosus

K. Lage, J. Gusella, C. Morton, 2015 .

Disruption of a synaptotagmin (SYT14) associated with neurodevelopmental abnormalities

J. Gusella, A. Ligon, D. J. Donovan, 2007, American journal of medical genetics. Part A.

Central 22q11.2 deletion (LCR22 B‐D) in a fetus with severe fetal growth restriction and a mother with severe systemic lupus erythematosus: Further evidence of CRKL haploinsufficiency in the pathogenesis of 22q11.2 deletion syndrome

W. Grody, F. Quintero-Rivera, J. Grossman, 2021, American journal of medical genetics. Part A.

5q35 duplication presents with psychiatric and undergrowth phenotypes mediated by NSD1 overexpression and mTOR signaling downregulation

D. Earl, F. Quintero-Rivera, A. Beck, 2021, Human Genetics.

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update

E. Zackai, J. Allanson, F. Quintero-Rivera, 2016, Human mutation.

Autistic and psychiatric findings associated with the 3q29 microdeletion syndrome: Case report and review

F. Quintero-Rivera, J. Martinez-Agosto, Pantea Sharifi-Hannauer, 2010, American journal of medical genetics. Part A.

An exon 1 deletion in OTC identified using chromosomal microarray analysis in a mother and her two affected deceased newborns: implications for the prenatal diagnosis of ornithine transcarbamylase deficiency.

Joshua L. Deignan, W. Grody, F. Quintero-Rivera, 2010, Molecular genetics and metabolism.

Apert syndrome: what prenatal radiographic findings should prompt its consideration?

J. Mulliken, D. Levine, F. Quintero-Rivera, 2006, Prenatal diagnosis.

Integrated Genomics Analysis Identifies Recessive Ciliopathy Mutations in Primary Endocardial Fibroelastosis: a Rare Neonatal Cardiomyopathy

Ryan J. Schmidt, S. Nelson, W. Grody, 2021, Circulation Research.

Ring 2 chromosome associated with failure to thrive, microcephaly and dysmorphic facial features.

F. Quintero-Rivera, L. E. M. DE Villarreal, A. López-Uriarte, 2013, Gene.

Triple Hit Lymphoma

F. Quintero-Rivera, J. Said, M. Kallen, 2016, International journal of surgical pathology.

HOMOZYGOUS α-THALASSEMIA WITH TRISOMY 7 MOSAICISM IN A LIVE-BORN INFANT

F. Quintero-Rivera, M. Parast, P. Abreu-e-Lima, 2009, Pediatric Hematology & Oncology.

Outcomes of two different unbalanced segregations from a maternal t(4;10)(q33;p15.1) translocation

F. Quintero-Rivera, M. Bina, J. Martinez-Agosto, 2023, BMC Medical Genomics.

Novel Variants in the VCP Gene Causing Multisystem Proteinopathy 1

F. Quintero-Rivera, V. Kimonis, M. Weiss, 2023, Genes.

Identification of novel PIEZO1 variants using prenatal exome sequencing and correlation to ultrasound and autopsy findings of recurrent hydrops fetalis

Joshua L. Deignan, W. Grody, F. Quintero-Rivera, 2018, American journal of medical genetics. Part A.

First report of a de novo 18q11.2 microdeletion including GATA6 associated with complex congenital heart disease and renal abnormalities

F. Quintero-Rivera, K. Dipple, N. Dorrani, 2013, American journal of medical genetics. Part A.

Bilateral exophthalmos: Report of a case and review of a fibroblast growth factor receptor 2 mutation associated with non‐penetrant Crouzon syndrome

F. Quintero-Rivera, J. Martinez-Agosto, 2010, Journal of paediatrics and child health.

Clinical, technical, and environmental biases influencing equitable access to clinical genetics/genomics testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).

S. Fullerton, F. Quintero-Rivera, M. Vatta, 2023, Genetics in medicine : official journal of the American College of Medical Genetics.

Diversity, inclusion and equity in medical genetics: The time is now

F. Quintero-Rivera, F. Hisama, 2020, American journal of medical genetics. Part A.

Novel liver findings in ornithine transcarbamylase deficiency due to Xp11.4-p21.1 microdeletion.

M. Teitell, F. Quintero-Rivera, D. Mandelker, 2015, Gene.

M. Slovak, F. Quintero-Rivera, G. Raca, 2018, Cancer genetics.

Clinical exome sequencing for genetic identification of rare Mendelian disorders.

Joshua L. Deignan, S. Nelson, W. Grody, 2014, JAMA.

Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions

J. Graham, F. Quintero-Rivera, L. Bird, 2023, Prenatal diagnosis.