D. Masser-Frye

发表

Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy.

Denise L. Perry, J. Rosenfeld, R. Taft, 2018, American journal of human genetics.

Choroid plexus cysts in the mid‐trimester fetus—practical application suggests superiority of an individualized risk method of counseling for trisomy 18

V. Catanzarite, L. Bird, D. Masser-Frye, 2002, Prenatal diagnosis.

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Edwin Cuppen, Claire Redin, Ryan L. Collins, 2016, Nature Genetics.

Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico

Denise L. Perry, Vladimir G. Gainullin, S. S. Ajay, 2019, npj Genomic Medicine.

Cornelia de Lange syndrome in diverse populations

A. R. Porras, I. Krantz, E. Roeder, 2019, American journal of medical genetics. Part A.

Genotype–phenotype analysis of 4q deletion syndrome: Proposal of a critical region

J. Rosenfeld, C. Stevens, C. Curry, 2012, American journal of medical genetics. Part A.

Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.

B. Burton, Katherine H Kim, W. Dobyns, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Randomized Clinical Trial of First‐Line Genome Sequencing in Pediatric White Matter Disorders

A. Vanderver, R. Schiffmann, J. Shults, 2020, Annals of neurology.

Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements.

Fowzan S Alkuraya, Michael E Talkowski, Karen W Gripp, 2017, American journal of human genetics.

The odds and implications of coinheritance of hemophilia A and B

C. Thornburg, K. Corbett, J. Johnsen, 2020, Research and practice in thrombosis and haemostasis.

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant

Bradley P. Coe, Jessie H. Conta, B. Coe, 2015, European Journal of Human Genetics.

Practice Guidelines for Communicating a Prenatal or Postnatal Diagnosis of Down Syndrome: Recommendations of the National Society of Genetic Counselors

C. Brasington, S. Sell, D. Masser-Frye, 2011, Journal of Genetic Counseling.

Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development

Sara B. Linker, Ryan E. Mills, Kiely N. James, 2023, Nature Genetics.

Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations.

D. Chitayat, Marilyn C. Jones, G. Kletter, 2019, American journal of human genetics.

Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

Eric W. Klee, Ange-Line Bruel, Sophie Nambot, 2019, Genetics in Medicine.

Mitochondrial dysfunction in autistic patients with 15q inverted duplication

Jenifer Juranek, M. Spence, P. Filipek, 2003, Annals of neurology.

X-linked neonatal-onset epileptic encephalopathy associated with a gain-of-function variant p.R660T in GRIA3

A. Bayat, Marilyn C. Jones, B. Gérard, 2021, PLoS genetics.

Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico

D. Bentley, J. Belmont, R. Taft, 2019, npj Genomic Medicine.

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

J. Rosenfeld, I. Krantz, Ankita Patel, 2019, Genetics in Medicine.

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

Rebecca C. Spillmann, Denise L. Perry, J. Rosenfeld, 2019, Genetics in Medicine.

Leiomyosarcoma in Birt-Hogg-Dubé Syndrome

L. Bird, D. Masser-Frye, J. Mo, 2020, Journal of pediatric hematology/oncology.

Acute Megakaryoblastic Leukemia Leading to the Diagnosis of Germline Trisomy 21 Mosaicism

M. Del Campo, D. Masser-Frye, D. Kuo, 2020, Journal of pediatric hematology/oncology.