A. Rope

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Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency.

H. Hakonarson, S. South, J. Opitz, 2011, American journal of human genetics.

Universal screening for Lynch syndrome among patients with colorectal cancer: patient perspectives on screening and sharing results with at-risk relatives

K. Goddard, A. Rope, S. Syngal, 2017, Familial Cancer.

Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management

E. Zackai, C. Morris, A. Rope, 2008, Genetics in Medicine.

A variant in TAF1 is associated with a new syndrome with severe intellectual disability and characteristic dysmorphic features

G. Highnam, D. Mittelman, A. Rope, 2015, bioRxiv.

Comprehensive whole genome sequencing of a three generation pedigree : genetic components of a new syndrome with Severe Developmental Delay and Dysmorphic Features

G. Highnam, D. Mittelman, A. Rope, 2014 .

Development and evaluation of an exome sequencing training course for medical interpreters.

B. Wilfond, A. Rope, L. Karliner, 2022, Personalized medicine.

Dilated ascending aorta in a child with ring chromosome 21 syndrome

R. Hinton, A. Rope, H. Saal, 2004, American journal of medical genetics. Part A.

7q11.23 Duplication syndrome: Physical characteristics and natural history

C. Mervis, C. Morris, A. Rope, 2015, American journal of medical genetics. Part A.

Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity

J. Lupski, K. Devriendt, J. Vermeesch, 2019, Human mutation.

Duplication Syndrome : Physical Characteristics and Natural History

C. Mervis, C. Morris, A. Rope, 2015 .

Somatic mosaicism contributes to phenotypic variation in Timothy syndrome

A. Wilde, A. Rope, M. Tristani-Firouzi, 2011, American journal of medical genetics. Part A.

The Occurrence of Biogenic Calcian Struvite, (Mg, Ca)NH4PO4.6H2O, as Intracellular Crystals in Paramecium

A. Rope, E. Kaneshiro, J. E. Grover, 1997 .

A dyadic approach to the delineation of diagnostic entities in clinical genomics.

Marc S. Williams, E. Zackai, C. Haldeman-Englert, 2021, American journal of human genetics.

Brachymesomelic dysplasia with Peters anomaly of the eye results from disruptions of the X chromosome near the SHOX and SOX3 genes

S. South, J. Kivlin, A. Rope, 2007, American journal of medical genetics. Part A.

Expansion in size of a terminal deletion: a paradigm shift for parental follow-up studies

S. South, A. Rope, A. Brothman, 2008, Journal of Medical Genetics.

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

Edward Yang, Laurence Faivre, Jillian S Parboosingh, 2015, American journal of human genetics.

Implementation of a Systematic Tumor Screening Program for Lynch Syndrome in an Integrated Health Care Setting

K. Goddard, A. Rope, J. Schneider, 2019, Familial Cancer.

Genetic analyses in two extended families with deletion 22q11 syndrome: importance of extracardiac manifestations.

A. Rope, G. Andelfinger, R. Hopkin, 2005, The Journal of pediatrics.

Association of Anterior Glottic Webs with Velocardiofacial Syndrome (Chromosome 22q11.2 Deletion)

A. Rope, R. Hopkin, A. Cohen, 2004, Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery.

A case for expanding carrier testing to include actionable X‐linked disorders

D. Nickerson, K. Goddard, B. Wilfond, 2018, Clinical case reports.

Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory.

D. Nickerson, M. Dorschner, K. Goddard, 2018, American journal of human genetics.

Clinical utility of a next generation sequencing panel assay for Marfan and Marfan‐like syndromes featuring aortopathy

J. Stoler, A. Rope, P. Bayrak-Toydemir, 2015, American journal of medical genetics. Part A.

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

J. Rosenfeld, R. Pfundt, M. Shaw, 2018, American journal of human genetics.

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

R. Hennekam, L. Biesecker, J. Graham, 2010, Human mutation.

Cancer Health Assessments Reaching Many (CHARM): A clinical trial assessing a multimodal cancer genetics services delivery program and its impact on diverse populations.

Kathleen F. Mittendorf, M. Dorschner, K. Goddard, 2021, Contemporary clinical trials.

Genome sequencing and carrier testing: decisions on categorization and whether to disclose results of carrier testing

D. Nickerson, M. Dorschner, K. Goddard, 2017, Genetics in Medicine.

A direct comparison of next generation sequencing enrichment methods using an aortopathy gene panel- clinical diagnostics perspective

Brendan D. O'Fallon, Larissa V Furtado, A. Rope, 2012, BMC Medical Genomics.

Kathleen F. Mittendorf, K. Goddard, A. Rope, 2019, Hereditary Cancer in Clinical Practice.

Massively parallel sequencing identifies a previously unrecognized X-linked disorder resulting in lethality in male infants owing to amino-terminal acetyltransferase deficiency

Mark Yandell, Jinchuan Xing, Leslie G Biesecker, 2011, Genome Biology.

DiGeorge anomaly in the absence of chromosome 22q11.2 deletion.

A. Rope, H. Saal, R. Hopkin, 2009, The Journal of pediatrics.

Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.

D. Baralle, R. Bernier, F. Alkuraya, 2019, Human molecular genetics.

X-linked Malformation and Infantile Lethality Syndrome (provisionally named Ogden Syndrome)

A. Rope, L. Bird, G. Lyon, 2013 .

Upper airway malformation associated with partial trisomy 11q

A. Rope, H. Saal, R. Hopkin, 2003, American journal of medical genetics. Part A.

Characterization of large genomic deletions in the FBN1 gene using multiplex ligation-dependent probe amplification

Larissa V Furtado, A. Rope, P. Bayrak-Toydemir, 2011, BMC Medical Genetics.

Clinical Utility of Chromosomal Microarray Analysis of DNA from Buccal Cells: Detection of Mosaicism in Three Patients

S. South, H. Kearney, A. Rope, 2014, Journal of Genetic Counseling.

Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks

E. Zackai, K. Lage, P. Donahoe, 2012, American journal of medical genetics. Part A.

A new genomic mechanism leading to cri‐du‐chat syndrome

S. South, A. Rope, J. Swensen, 2006, American journal of medical genetics. Part A.

Patient and provider perspectives on adherence to and care coordination of lynch syndrome surveillance recommendations: findings from qualitative interviews

K. Goddard, A. Rope, S. Syngal, 2018, Hereditary Cancer in Clinical Practice.

Feasibility of a Traceback Approach for Using Pathology Specimens to Facilitate Genetic Testing in the Genetic Risk Analysis in Ovarian Cancer (GRACE) Study Protocol

H. Feigelson, A. Rope, S. Weinmann, 2021, Journal of personalized medicine.

Neural tube defects and atypical deletion on 22q11.2

A. Rope, B. Krock, C. Leoni, 2014, American journal of medical genetics. Part A.

Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.

D. Baralle, R. Bernier, F. Alkuraya, 2020, Human molecular genetics.

Patients' ratings of genetic conditions validate a taxonomy to simplify decisions about preconception carrier screening via genome sequencing

K. Goddard, B. Wilfond, J. Berg, 2016, American journal of medical genetics. Part A.

Kathleen F. Mittendorf, Charisma L. Jenkins, M. Dorschner, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Development and early implementation of an Accessible, Relational, Inclusive and Actionable approach to genetic counseling: The ARIA model.

Marian J. Gilmore, K. Goddard, B. Wilfond, 2020, Patient education and counseling.

A novel X‐linked multiple congenital anomaly syndrome associated with an EBP mutation

Larissa V Furtado, A. Rope, J. Carey, 2010, American journal of medical genetics. Part A.

Lessons Learned From A Study Of Genomics-Based Carrier Screening For Reproductive Decision Making.

K. Goddard, B. Wilfond, C. Richards, 2018, Health affairs.

An Examination of the Ethical and Legal Limits in Implementing “Traceback Testing” for Deceased Patients

H. Feigelson, A. Rope, S. Weinmann, 2022, Journal of Law, Medicine & Ethics.

Generating a taxonomy for genetic conditions relevant to reproductive planning

Diane M. Korngiebel, K. Goddard, B. Wilfond, 2016, American journal of medical genetics. Part A.

Response to Hamosh et al.

C. Haldeman-Englert, M. Bamshad, I. Glass, 2021, American journal of human genetics.

Application of DNA amplification fingerprinting (DAF) to mixed culture bioreactors

A. Rope, Denise G. Taylor, J. C. Loper, 2005, Journal of Industrial Microbiology.

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms

I. Krantz, E. Roeder, J. Graham, 2023, American journal of medical genetics. Part A.

DiGeorge anomaly in the absence of chromosome 22q11.2 deletion.

A. Rope, H. Saal, R. Hopkin, 2009, Jornal de Pediatria.

Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory.

Marian J. Gilmore, D. Nickerson, M. Dorschner, 2018, American journal of human genetics.