| Year |
Title |
Altmetric |
| 2023
|
Celebrating excellence, acknowledging past harms: Both are vital parts of ASHG's continuing journey to advance human genetics.
American Journal of Human Genetics.
110:371-372.
2023
|
|
| 2022
|
Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing
2022
|
|
| 2022
|
Closing the loop: Editors' feedback on the ASHG readership survey.
HGG Advances.
3.
2022
|
|
| 2022
|
An Overview of Cancer in the First 315,000 All of Us Participants.
PLoS One.
17.
2022
|
|
| 2022
|
Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation.
Genetics in Medicine.
24:1967-1977.
2022
|
|
| 2022
|
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Annual Review of Genomics and Human Genetics.
23:331-361.
2022
|
|
| 2022
|
The All of Us Research Program: Data quality, utility, and diversity.
Patterns.
3.
2022
|
|
| 2022
|
Genetic regulation of OAS1 nonsense-mediated decay underlies association with COVID-19 hospitalization in patients of European and African ancestries.
Nature Genetics.
54:1103-1116.
2022
|
|
| 2022
|
An international genomics health workforce education priorities assessment.
Personalized Medicine.
19:299-306.
2022
|
|
| 2022
|
Targeted exon skipping of NF1 exon 17 as a therapeutic for neurofibromatosis type I
2022
|
|
| 2022
|
Closing the loop: Editors' feedback on the ASHG readership survey.
American Journal of Human Genetics.
109:977-978.
2022
|
|
| 2022
|
The seventh international RASopathies symposium: Pathways to a cure—expanding knowledge, enhancing research, and therapeutic discovery.
American Journal of Medical Genetics Part A.
188:1915-1927.
2022
|
|
| 2022
|
Genome sequencing as a first-line diagnostic test for hospitalized infants.
Genetics in Medicine.
24:851-861.
2022
|
|
| 2022
|
Education and Training of Non-Genetics Providers on the Return of Genome Sequencing Results in a NICU Setting.
Journal of Personalized Medicine.
12.
2022
|
|
| 2022
|
An interview on rare and genetic diseases with Dr Bruce Korf, Associate Dean for Genomic Medicine at the University of Alabama at Birmingham.
Current Medical Research and Opinion.
38:161-163.
2022
|
|
| 2022
|
Analysis of patient-specific NF1 variants leads to functional insights for Ras signaling that can impact personalized medicine.
Human Mutation.
43:30-41.
2022
|
|
| 2022
|
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.
Journal of Medical Genetics.
2022
|
|
| 2022
|
Rationale for haploinsufficiency correction therapy in neurofibromatosis type 1
2022
|
|
| 2021
|
Describing human populations: An evolving picture in human genetics research.
American Journal of Human Genetics.
108:2207.
2021
|
|
| 2021
|
Restoration of normal NF1 function with antisense morpholino treatment of recurrent pathogenic patient-specific variant c.1466a>G; p.Y489C.
Journal of Personalized Medicine.
11.
2021
|
|
| 2021
|
The impact of the COVID-19 pandemic on neurofibromatosis clinical care and research.
Orphanet Journal of Rare Diseases.
16.
2021
|
|
| 2021
|
Evaluation of population-level pharmacogenetic actionability in Alabama.
Clinical and Translational Science.
14:2327-2338.
2021
|
|
| 2021
|
Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations.
Pediatric Neurology.
123:50-66.
2021
|
|
| 2021
|
Status and Recommendations for Incorporating Biomarkers for Cutaneous Neurofibromas Into Clinical Research.
Neurology.
97:S42-S49.
2021
|
|
| 2021
|
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation.
Genetics in Medicine.
23:1506-1513.
2021
|
|
| 2021
|
Ensuring best practice in genomics education and evaluation: reporting item standards for education and its evaluation in genomics (RISE2 Genomics).
Genetics in Medicine.
23:1356-1365.
2021
|
|
| 2021
|
Cognition, ADHD Symptoms, and Functional Impairment in Children and Adolescents With Neurofibromatosis Type 1.
Journal of Attention Disorders.
25:1177-1186.
2021
|
|
| 2021
|
Pitfalls and challenges in genetic test interpretation: An exploration of genetic professionals experience with interpretation of results
2021
|
|
| 2021
|
A state-based approach to genomics for rare disease and population screening.
Genetics in Medicine.
23:777-781.
2021
|
|
| 2021
|
Comparison of family health history in surveys vs electronic health record data mapped to the observational medical outcomes partnership data model in the All of Us Research Program.
Journal of the American Medical Informatics Association.
28:695-703.
2021
|
|
| 2021
|
Visual outcomes following everolimus targeted therapy for neurofibromatosis type 1-associated optic pathway gliomas in children.
Pediatric Blood and Cancer.
68.
2021
|
|
| 2021
|
NF106: A neurofibromatosis clinical trials consortium phase II trial of the MEK inhibitor mirdametinib (PD-0325901) in adolescents and adults with NF1-related plexiform neurofibromas.
Journal of Clinical Oncology.
39:797-806.
2021
|
|
| 2021
|
Identifying rare, medically relevant variation via population-based genomic screening in Alabama: opportunities and pitfalls.
Genetics in Medicine.
23:280-288.
2021
|
|
| 2021
|
An evaluation of selumetinib for the treatment of neurofibromatosis type 1-associated symptomatic, inoperable plexiform neurofibromas
2021
|
|
| 2021
|
Cabozantinib for neurofibromatosis type 1–related plexiform neurofibromas: a phase 2 trial.
Nature Medicine.
27:165-173.
2021
|
|
| 2021
|
Verifying nomenclature of DNA variants in submitted manuscripts: Guidance for journals.
Human Mutation.
42:3-7.
2021
|
|
| 2020
|
A phase II study of continuous oral mTOR inhibitor everolimus for recurrent, radiographic-progressive neurofibromatosis type 1-associated pediatric low-grade glioma: A Neurofibromatosis Clinical Trials Consortium study.
Neuro-Oncology.
22:1527-1535.
2020
|
|
| 2020
|
Mutation-Directed Therapeutics for Neurofibromatosis Type I
2020
|
|
| 2020
|
The American Journal of Human Genetics Welcomes Human Genetics and Genomics Advances to the ASHG Publications Family.
American Journal of Human Genetics.
106:727-728.
2020
|
|
| 2020
|
Recruiting diversity where it exists: The Alabama Genomic Health Initiative.
Journal of Genetic Counseling.
29:471-478.
2020
|
|
| 2020
|
Epilepsy and Neurodevelopmental Comorbidities in Tuberous Sclerosis Complex: A Natural History Study.
Pediatric Neurology.
106:10-16.
2020
|
|
| 2020
|
Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies.
Human Genetics.
139:483-498.
2020
|
|
| 2020
|
An update on neurofibromatosis type 1-associated gliomas.
Cancers.
12.
2020
|
|
| 2020
|
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1.
Human Mutation.
41:299-315.
2020
|
|
| 2020
|
Fibulin-5 mutation featuring Charcot-Marie-Tooth disease, joint hyperlaxity, and scoliosis
2020
|
|
| 2020
|
Return of raw data in genomic testing and research: ownership, partnership, and risk–benefit.
Genetics in Medicine.
22:12-14.
2020
|
|
| 2019
|
Reproducibility of cognitive endpoints in clinical trials: lessons from neurofibromatosis type 1.
Annals of Clinical and Translational Neurology.
6:2555-2565.
2019
|
|
| 2019
|
Child Neurology: Spastic paraparesis and dystonia with a novel ADCY5 mutation.
Neurology.
93:510-514.
2019
|
|
| 2019
|
Affinity purification of NF1 protein–protein interactors identifies keratins and neurofibromin itself as binding partners.
Genes.
10.
2019
|
|
| 2019
|
The Genomic Medicine Integrative Research Framework: A Conceptual Framework for Conducting Genomic Medicine Research.
American Journal of Human Genetics.
104:1088-1096.
2019
|
|
| 2019
|
First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics.
American Journal of Medical Genetics Part A.
179:1091-1097.
2019
|
|
| 2019
|
Multi-Omics Profiling for NF1 Target Discovery in Neurofibromin (NF1) Deficient Cells.
Proteomics.
19.
2019
|
|
| 2019
|
Health supervision for children with neurofibromatosis type 1.
Pediatrics.
143.
2019
|
|
| 2019
|
Response to Hannah-Shmouni and Stratakis.
Genetics in Medicine.
21:1256.
2019
|
|
| 2019
|
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation.
Genetics in Medicine.
21:867-876.
2019
|
|
| 2019
|
Correction to: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation (Genetics in Medicine, (2018), 10.1038/s41436-018-0269-0).
Genetics in Medicine.
21:764-765.
2019
|
|
| 2019
|
A YWHAZ variant associated with cardiofaciocutaneous syndrome activates the RAF-ERK pathway.
Frontiers in Physiology.
10.
2019
|
|
| 2019
|
Multicenter, prospective, phase II and biomarker study of high-dose bevacizumab as induction therapy in patients with neurofibromatosis type 2 and progressive vestibular schwannoma.
Journal of Clinical Oncology.
37:3446-3454.
2019
|
|
| 2019
|
Subsequent neoplasms after a primary tumor in individuals with neurofibromatosis type 1.
Journal of Clinical Oncology.
37:3050-3058.
2019
|
|
| 2018
|
Germline and somatic NF1 alterations are linked to increased HER2 expression in breast cancer.
Cancer Prevention Research.
11:655-663.
2018
|
|
| 2018
|
Epilepsy treatment patterns among patients with tuberous sclerosis complex.
Journal of the Neurological Sciences.
391:104-108.
2018
|
|
| 2018
|
Clinical trial design for cutaneous neurofibromas.
Neurology.
91:S31-S37.
2018
|
|
| 2018
|
Cutaneous neurofibromas: Current clinical and pathologic issues.
Neurology.
91:S5-S13.
2018
|
|
| 2018
|
Care of adults with neurofibromatosis type 1: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Genetics in Medicine.
20:671-682.
2018
|
|
| 2018
|
Neurofibromin (NF1) genetic variant structure–function analyses using a full-length mouse cDNA.
Human Mutation.
39:816-821.
2018
|
|
| 2018
|
Unusual presentation of hereditary leiomyomatosis mimicking neurofibromatosis.
JAAD Case Reports.
4:440-441.
2018
|
|
| 2018
|
Cutaneous neurofibromas in Neurofibromatosis type I: A quantitative natural history study.
Orphanet Journal of Rare Diseases.
13.
2018
|
|
| 2018
|
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848.
American Journal of Human Genetics.
102:69-87.
2018
|
|
| 2018
|
Breast cancer risk and germline genomic profiling of women with neurofibromatosis type 1 who developed breast cancer
2018
|
|
| 2018
|
Neurofibromatosis Clinical Trial Consortium.
Journal of Child Neurology.
33:82-91.
2018
|
|
| 2017
|
Report on the Banbury Summit Meeting on medical genetics training in the genomic era, 23-26 February 2014.
Genetics in Medicine.
19:674-676.
2017
|
|
| 2017
|
Characterization and utilization of an international neurofibromatosis web-based, patient-entered registry: An observational study.
PLoS One.
12.
2017
|
|
| 2017
|
Patterns of Disease Monitoring and Treatment Among Patients With Tuberous Sclerosis Complex-related Angiomyolipomas.
Urology.
104:110-114.
2017
|
|
| 2017
|
Corrigendum: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing (Genetics in Medicine (2013) 15 (565-574) DOI: 10.1038/gim.2013.73).
Genetics in Medicine.
19:606.
2017
|
|
| 2017
|
Clinical relevance of small copy-number variants in chromosomal microarray clinical testing.
Genetics in Medicine.
19:377-385.
2017
|
|
| 2017
|
Neurocutaneous disorders in children.
Pediatrics in Review.
38:119-128.
2017
|
|
| 2017
|
Neurofibromatosis type 1.
Nature Reviews Disease Primers.
3.
2017
|
|
| 2017
|
Creation of an international registry to support discovery in schwannomatosis.
American Journal of Medical Genetics Part A.
173:407-413.
2017
|
|
| 2017
|
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): A policy statement of the American College of Medical Genetics and Genomics.
Genetics in Medicine.
19:249-255.
2017
|
|
| 2017
|
Orbital/Periorbital Plexiform Neurofibromas in Children with Neurofibromatosis Type 1: Multidisciplinary Recommendations for Care
2017
|
|
| 2016
|
Randomized placebo-controlled study of lovastatin in children with neurofibromatosis type 1.
Neurology.
87:2575-2584.
2016
|
|
| 2016
|
Recommendations for the integration of genomics into clinical practice.
Genetics in Medicine.
18:1075-1084.
2016
|
|
| 2016
|
Current status and recommendations for biomarkers and biobanking in neurofibromatosis.
Neurology.
87:S40-S48.
2016
|
|
| 2016
|
The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway.
American Journal of Medical Genetics Part A.
170:1959-1966.
2016
|
|
| 2016
|
Mice with missense and nonsense NF1 mutations display divergent phenotypes compared with human neurofibromatosis type I.
Disease Models and Mechanisms.
9:759-767.
2016
|
|
| 2016
|
Overview of clinical cytogenetics.
Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.].
2016:8.1.1-8.1.13.
2016
|
|
| 2015
|
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.
Human Mutation.
36:1052-1063.
2015
|
|
| 2015
|
Hypomagnesemia due to two novel TRPM6 mutations.
Journal of Pediatric Endocrinology and Metabolism.
28:1373-1378.
2015
|
|
| 2015
|
Pushing the envelope in genomics education.
Genetics in Medicine.
17:857-858.
2015
|
|
| 2015
|
The third international meeting on genetic disorders in the RAS/MAPK pathway: Towards a therapeutic approach.
American Journal of Medical Genetics Part A.
167:1741-1746.
2015
|
|
| 2015
|
Partial trisomy 21: A fifty-year follow-up visit.
American Journal of Medical Genetics Part A.
167:1610-1613.
2015
|
|
| 2015
|
Global implementation of genomic medicine: We are not alone.
Science Translational Medicine.
7.
2015
|
|
| 2015
|
How to know when physicians are ready for genomic medicine.
Science Translational Medicine.
7.
2015
|
|
| 2015
|
Spinal neurofibromatosis and phenotypic heterogeneity in NF1
2015
|
|
| 2014
|
Framework for development of physician competencies in genomic medicine: Report of the competencies working group of the inter-society coordinating committee for physician education in genomics.
Genetics in Medicine.
16:804-809.
2014
|
|
| 2014
|
Clinical response to Bevacizumab in schwannomatosis.
Neurology.
83:1986-1987.
2014
|
|
| 2014
|
Sirolimus for progressive neurofibromatosis type 1-associated plexiform neurofibromas: A neurofibromatosis clinical trials consortium phase II study.
Neuro-Oncology.
17:596-603.
2014
|
|
| 2014
|
The medical genetics residency milestones..
Journal of graduate medical education.
6:87-90.
2014
|
|
| 2014
|
CTF meeting 2012: Translation of the basic understanding of the biology and genetics of NF1, NF2, and schwannomatosis toward the development of effective therapies.
American Journal of Medical Genetics Part A.
164:563-578.
2014
|
|
| 2014
|
Challenges in global genomics education.
Applied and Translational Genomics.
3:128-129.
2014
|
|
| 2014
|
Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas.
Nature Genetics.
46:182-187.
2014
|
|
| 2014
|
Phase 2 randomized, flexible crossover, double-blinded, placebo-controlled trial of the farnesyltransferase inhibitor tipifarnib in children and young adults with neurofibromatosis type 1 and progressive plexiform neurofibromas.
Neuro-Oncology.
16:707-718.
2014
|
|
| 2014
|
Prenatal whole-genome sequencing - Is the quest to know a fetus's future ethical?.
New England Journal of Medicine.
370:195-197.
2014
|
|
| 2014
|
Prenatal whole-genome sequencing: Is the quest to know a fetus's future ethical?.
Obstetrical and Gynecological Survey.
69:197-199.
2014
|
|
| 2014
|
Sirolimus for non-progressive NF1-associated plexiform neurofibromas: An NF clinical trials consortium phase II study.
Pediatric Blood and Cancer.
61:982-986.
2014
|
|
| 2014
|
The effect of everolimus on renal angiomyolipoma in patients with tuberous sclerosis complex being treated for subependymal giant cell astrocytoma: Subgroup results from the randomized, placebo-controlled, Phase 3 trial EXIST-1.
Nephrology Dialysis Transplantation.
29:1203-1210.
2014
|
|
| 2014
|
Validity and interexaminer reliability of a new method to quantify skin neurofibromas of neurofibromatosis 1 using paper frames.
Orphanet Journal of Rare Diseases.
9:202.
2014
|
|
| 2013
|
Tuberous sclerosis complex diagnostic criteria update: Recommendations of the 2012 international tuberous sclerosis complex consensus conference.
Pediatric Neurology.
49:243-254.
2013
|
|
| 2013
|
Tuberous sclerosis complex surveillance and management: Recommendations of the 2012 international tuberous sclerosis complex consensus conference.
Pediatric Neurology.
49:255-265.
2013
|
|
| 2013
|
Genomic medicine: Educational challenges.
Molecular Genetics and Genomic Medicine.
1:119-122.
2013
|
|
| 2013
|
Implementing genomic medicine in the clinic: The future is here.
Obstetrical and Gynecological Survey.
68:621-623.
2013
|
|
| 2013
|
Response to Townsend et al..
Genetics in Medicine.
15:752-753.
2013
|
|
| 2013
|
Overview of molecular genetic diagnosis.
Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.].
2013
|
|
| 2013
|
Genomic privacy in the information age
2013
|
|
| 2013
|
New approaches to molecular diagnosis.
Journal of the American Medical Association.
309:1511-1521.
2013
|
|
| 2013
|
Implementing genomic medicine in the clinic: The future is here.
Genetics in Medicine.
15:258-267.
2013
|
|
| 2013
|
Optimizing biologically targeted clinical trials for neurofibromatosis.
Expert Opinion on Investigational Drugs.
22:443-462.
2013
|
|
| 2013
|
Phase I trial and pharmacokinetic study of sorafenib in children with neurofibromatosis type I and plexiform neurofibromas.
Pediatric Blood and Cancer.
60:396-401.
2013
|
|
| 2013
|
Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria.
American Journal of Medical Genetics Part A.
161:405-416.
2013
|
|
| 2013
|
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
Genetics in Medicine.
15:565-574.
2013
|
|
| 2013
|
Genetic literacy and competency.
Pediatrics.
132.
2013
|
|
| 2013
|
Integration of genomics into medical practice.
Discovery medicine.
16:241-248.
2013
|
|
| 2013
|
Neurofibromatosis.
Handbook of Clinical Neurology.
111:333-340.
2013
|
|
| 2013
|
Preface
2013
|
|
| 2013
|
Recommendations for imaging tumor response in neurofibromatosis clinical trials..
Neurology.
81.
2013
|
|
| 2012
|
Biochemical genetics. Introduction..
Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.].
Chapter 17.
2012
|
|
| 2012
|
Exploring concordance and discordance for return of incidental findings from clinical sequencing.
Genetics in Medicine.
14:405-410.
2012
|
|
| 2012
|
Consensus recommendations for current treatments and accelerating clinical trials for patients with neurofibromatosis type 2.
American Journal of Medical Genetics Part A.
158 A:24-41.
2012
|
|
| 2012
|
Genetic and genomic competency in medical practice.
AMA journal of ethics.
14:622-626.
2012
|
|
| 2011
|
Competencies for the physician medical geneticist in the 21st century.
Genetics in Medicine.
13:911-912.
2011
|
|
| 2011
|
Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders.
American Journal of Medical Genetics Part A.
155:2386-2396.
2011
|
|
| 2011
|
Genetics and genomics education: The next generation.
Genetics in Medicine.
13:201-202.
2011
|
|
| 2011
|
Back to the future: Proceedings from the 2010 NF Conference.
American Journal of Medical Genetics Part A.
155:307-321.
2011
|
|
| 2010
|
Introduction: Clinical molecular genetics.
Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.].
2010
|
|
| 2010
|
Phenotypic variability among café-au-lait macules in neurofibromatosis type 1.
Journal of the American Academy of Dermatology.
63:440-447.
2010
|
|
| 2010
|
Future Health Applications of Genomics. Priorities for Communication, Behavioral, and Social Sciences Research.
American Journal of Preventive Medicine.
38:556-565.
2010
|
|
| 2010
|
Cancer genetics: Introduction.
Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.].
2010
|
|
| 2010
|
Cancer genetics.
Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.].
2010
|
|
| 2010
|
Biochemical genetics.
Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.].
2010
|
|
| 2010
|
Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back.
American Journal of Medical Genetics Part A.
152:4-24.
2010
|
|
| 2009
|
Consensus recommendations to accelerate clinical trials for neurofibromatosis type 2.
Clinical Cancer Research.
15:5032-5039.
2009
|
|
| 2009
|
Neurofibromatosis type 1.
Journal of the American Academy of Dermatology.
61:1-14.
2009
|
|
| 2009
|
Cancer genetics.
Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.].
2009
|
|
| 2009
|
Clinical molecular genetics.
Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.].
2009
|
|
| 2009
|
AsktheGeneticistSM: Five years of online experience.
Genetics in Medicine.
11:294-304.
2009
|
|
| 2009
|
Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.
Journal of the American Medical Association.
302:2111-2118.
2009
|
|
| 2009
|
Neurofibromatosis type 1 revisited.
Pediatrics.
123:124-133.
2009
|
|
| 2008
|
Biochemical genetics.
Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.].
2008
|
|
| 2008
|
Clinical cytogenetics.
Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.].
2008
|
|
| 2008
|
Characterization of Apparently Balanced Chromosomal Rearrangements from the Developmental Genome Anatomy Project (DOI:10.1016/j.ajhg.2008.01.011).
American Journal of Human Genetics.
83:425-427.
2008
|
|
| 2008
|
Statins, bone, and neurofibromatosis type 1.
BMC Medicine.
6.
2008
|
|
| 2008
|
Advances in genetic testing and applications in newborn medicine
2008
|
|
| 2008
|
Report of the Banbury Summit Meeting on the evolving role of the medical geneticist, February 12-14, 2006.
Genetics in Medicine.
10:502-507.
2008
|
|
| 2008
|
Developing a national collaborative study system for rare genetic diseases.
Genetics in Medicine.
10:325-329.
2008
|
|
| 2008
|
Cancer risk assessment and the genetic counseling process: Using hereditary breast and ovarian cancer as an example.
Medical Principles and Practice.
17:173-189.
2008
|
|
| 2008
|
Characterization of Apparently Balanced Chromosomal Rearrangements from the Developmental Genome Anatomy Project.
American Journal of Human Genetics.
82:712-722.
2008
|
|
| 2008
|
Focus on research: Hutchinson-Gilford progeria syndrome, aging, and the nuclear lamina.
New England Journal of Medicine.
358:552-554.
2008
|
|
| 2007
|
Genetic Testing in Cardiovascular Disease.
Journal of the American College of Cardiology.
50:727-737.
2007
|
|
| 2007
|
NF1 plexiform neurofibroma growth rate by volumetric MRI: Relationship to age and body weight.
Neurology.
68:643-647.
2007
|
|
| 2007
|
Disruption of diacylglycerol kinase delta (DGKD) associated with seizures in humans and mice.
American Journal of Human Genetics.
80:792-799.
2007
|
|
| 2007
|
Overview of genetic diagnosis in cancer..
Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.].
Chapter 10.
2007
|
|
| 2006
|
Impact of neurofibromatosis 1 on quality of life: A cross-sectional study of 176 American cases.
American Journal of Medical Genetics Part A.
140:1893-1898.
2006
|
|
| 2006
|
Pathophysiology of neurofibromatosis type 1.
ACP journal club.
144:842-849.
2006
|
|
| 2006
|
Overview of molecular genetic diagnosis..
Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.].
Chapter 9.
2006
|
|
| 2005
|
Genetics training in the genomic era.
Current Opinion in Pediatrics.
17:747-750.
2005
|
|
| 2005
|
Report of Banbury Summit meeting on training of physicians in medical genetics, October 20-22, 2004.
Genetics in Medicine.
7:433-438.
2005
|
|
| 2005
|
Genetics in medical practice: The need for ultimate makeover.
Genetics in Medicine.
7:293-294.
2005
|
|
| 2005
|
Case 13-2005: A 48-year-old man with weakness of the limbs and multiple tumors of spinal nerves.
New England Journal of Medicine.
352:1800-1808.
2005
|
|
| 2005
|
MR imaging of abdominopelvic involvement in neurofibromatosis type 1: A review of 43 patients
2005
|
|
| 2005
|
Psychiatric genetics: A survey of psychiatrists' knowledge, opinions, and practice patterns.
Journal of Clinical Psychiatry.
66:821-830.
2005
|
|
| 2005
|
Superficial neurofibroma: A lesion with unique MRI characteristics in patients with neurofibromatosis type I.
American Journal of Roentgenology.
184:962-968.
2005
|
|
| 2005
|
The case for strategic international alliances to harness nutritional genomics for public and personal health
2005
|
|
| 2005
|
The phakomatoses.
Clinics in Dermatology.
23:78-84.
2005
|
|
| 2004
|
Outline of a medical genetics curriculum for internal medicine residency training programs.
Genetics in Medicine.
6:543-547.
2004
|
|
| 2004
|
Basic genetics.
Primary Care: Clinics in Office Practice.
31:461-478.
2004
|
|
| 2004
|
Phenotype characterization and natural history of spondylothoracic dysplasia syndrome: A series of 27 new cases.
American Journal of Medical Genetics Part A.
128 A:120-126.
2004
|
|
| 2004
|
The phakomatoses.
Neuroimaging Clinics of North America.
14:139-148.
2004
|
|
| 2004
|
Integration of genetics into medical practice.
Growth Hormone and IGF Research.
14.
2004
|
|
| 2003
|
Deletion of the SLUG (SNAI2) gene results in human piebaldism.
American Journal of Medical Genetics Part A.
122 A:125-132.
2003
|
|
| 2003
|
Deletion of the SLUG (SNAI2) gene results in human piebaldism..
American Journal of Medical Genetics Part A.
122A:125-132.
2003
|
|
| 2003
|
Rib defects in patterns of multiple malformations: A retrospective review and phenotypic analysis of 47 cases.
American Journal of Medical Genetics Part A.
122 A:63-69.
2003
|
|
| 2003
|
Rib defects in patterns of multiple malformations: a retrospective review and phenotypic analysis of 47 cases..
American Journal of Medical Genetics Part A.
122A:63-69.
2003
|
|
| 2003
|
Malignant peripheral nerve sheath tumours in neurofibromatosis type 1: MRI supports the diagnosis of malignant plexiform neurofibroma
2003
|
|
| 2003
|
Early childhood hearing loss: Clinical and molecular genetics. An educational slide set of the American College of Medical Genetics.
Genetics in Medicine.
5:338-341.
2003
|
|
| 2003
|
Human chromosome 7: DNA sequence and biology.
Science.
300:767-772.
2003
|
|
| 2003
|
Interobserver reproducibility of volumetric MR imaging measurements of plexiform neurofibromas.
American Journal of Roentgenology.
180:419-423.
2003
|
|
| 2003
|
What's new in neurogenetics? Amish microcephaly.
European Journal of Paediatric Neurology.
7:393-394.
2003
|
|
| 2002
|
Genetics and medical practice: New approaches to "old" disorders.
Current Opinion in Pediatrics.
14:688-690.
2002
|
|
| 2002
|
Clinical features and pathobiology of neurofibromatosis 1.
Journal of Child Neurology.
17:573-577.
2002
|
|
| 2002
|
Determination of end points for treatment of neurofibromatosis 1.
Journal of Child Neurology.
17:642-645.
2002
|
|
| 2002
|
Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing.
Genetics in Medicine.
4:279-288.
2002
|
|
| 2002
|
Plexiform neurofibromas in NF1: Toward biologic-based therapy.
Neurology.
58:1461-1470.
2002
|
|
| 2002
|
Cardiovascular disease in neurofibromatosis 1: Report of the NF1 Cardiovascular Task Force.
Genetics in Medicine.
4:105-111.
2002
|
|
| 2002
|
Anaesthetic management of children with tuberous sclerosis
2002
|
|
| 2002
|
Genetics in medical practice..
Genetics in Medicine.
4:10S-14S.
2002
|
|
| 2002
|
Integration of genetics into clinical teaching in medical school education..
Genetics in Medicine.
4:33S-38S.
2002
|
|
| 2002
|
NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas..
Human Mutation.
19:309.
2002
|
|
| 2001
|
Genetic testing and medical practice.
Current Opinion in Pediatrics.
13:547-549.
2001
|
|
| 2001
|
Abdominal migraine in children with neurofibromatosis type 1: A case series and review of gastrointestinal involvement in NF1.
Journal of Pediatric Gastroenterology and Nutrition.
33:149-154.
2001
|
|
| 2001
|
Diagnosis of FS should not be made until PKS is ruled out [2] (multiple letters).
American Journal of Medical Genetics Part A.
102:306.
2001
|
|
| 2001
|
Overview of clinical cytogenetics..
Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.].
Chapter 8:Unit-8.1.
2001
|
|
| 2001
|
Diagnosis and management of neurofibromatosis type 1.
Current Neurology and Neuroscience Reports.
1:162-167.
2001
|
|
| 2001
|
American College of Medical Genetics Consensus Statement on Factor V Leiden Mutation Testing.
Genetics in Medicine.
3:139-148.
2001
|
|
| 2001
|
Connexin 26 studies in patients with sensorineural hearing loss.
JAMA Otolaryngology-Head and Neck Surgery.
127:1037-1042.
2001
|
|
| 2001
|
Townes-Brocks syndrome versus expanded spectrum hemifacial microsomia: Review of eight patients and further evidence of a "hot spot" for mutation in the SALL1 gene.
Genetics in Medicine.
3:310-313.
2001
|
|
| 2000
|
Integration of genetics into medical practice: Ethical, legal, and social perspective.
Current Opinion in Pediatrics.
12:585-588.
2000
|
|
| 2000
|
Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1.
American Journal of Medical Genetics Part A.
95:108-117.
2000
|
|
| 2000
|
Discordant phenotype in monozygotic twins with Fryns syndrome.
American Journal of Medical Genetics Part A.
94:42-45.
2000
|
|
| 2000
|
Medical education in the 'postgenomic era'..
Postgraduate medicine.
108:15-18.
2000
|
|
| 2000
|
Medical education in the 'postgenomic era': How will genetics information be disseminated and integrated?.
Postgraduate medicine.
108:15-18.
2000
|
|
| 2000
|
New genetics of hearing loss.
Birth Defects Research Part A: Clinical and Molecular Teratology.
61:163-164.
2000
|
|
| 2000
|
New genetics of hearing loss..
Birth Defects Research Part A: Clinical and Molecular Teratology.
61:163-164.
2000
|
|
| 2000
|
Summary of the Association of Professors of Human and Medical Genetics Fourth Annual Workshop.
American Journal of Medical Genetics Part A.
90:169-172.
2000
|
|
| 2000
|
Advances in neurofibromatosis 2 (NF2): A workshop report.
Journal of Neurogenetics.
14:63-106.
2000
|
|
| 2000
|
Growth in North American white children with neurofibromatosis 1 (NF1).
Journal of Medical Genetics.
37:933-938.
2000
|
|
| 2000
|
Malignancy in neurofibromatosis type 1
2000
|
|
| 2000
|
NF1 microdeletion syndrome: Refined FISH characterization of sporadic and familial deletions with locus-specific probes.
American Journal of Human Genetics.
66:100-109.
2000
|
|
| 1999
|
Pediatrics in the era of genetic medicine.
Current Opinion in Pediatrics.
11:549-550.
1999
|
|
| 1999
|
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.
Human Molecular Genetics.
8:1461-1472.
1999
|
|
| 1999
|
Descriptive analysis of tibial pseudarthrosis in patients with neurofibromatosis 1.
American Journal of Medical Genetics Part A.
84:413-419.
1999
|
|
| 1999
|
Plexiform neurofibromas.
American Journal of Medical Genetics Part A.
89:31-37.
1999
|
|
| 1999
|
Emerging approaches toward the treatment of neurofibromatoses.
Genetics in Medicine.
1:158-164.
1999
|
|
| 1999
|
Genetic testing for patients with renal disease: Procedures, pitfalls, and ethical considerations.
Seminars in Nephrology.
19:319-326.
1999
|
|
| 1999
|
Retrospecive analysis of patients with overlapping features of townes‐brocks syndrome and goldenhar syndrome.
Genetics in Medicine.
1:56.
1999
|
|
| 1999
|
Structural anomalies reveajed by neuroimaging studies in the brains of patients with neurofibromatosis type 1 and large deletions.
Genetics in Medicine.
1:136-140.
1999
|
|
| 1998
|
Identification of a novel genetic locus for familial cardiac myxomas and Carney complex.
Circulation.
98:2560-2566.
1998
|
|
| 1998
|
The hereditary dystonias: An emerging story with a twist.
Annals of Neurology.
44:4-5.
1998
|
|
| 1998
|
Complex familial rearrangement of chromosome 9p24.3 detected by FISH.
American Journal of Medical Genetics Part A.
76:306-309.
1998
|
|
| 1998
|
Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.
American Journal of Human Genetics.
62:1370-1380.
1998
|
|
| 1998
|
Genetic variation in the 3′ untranslated region of the neurofibromatosis 1 gene: Application to unequal allelic expression.
Somatic Cell and Molecular Genetics.
24:107-119.
1998
|
|
| 1998
|
Genetics.
Current Opinion in Pediatrics.
10:607-608.
1998
|
|
| 1997
|
The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2.
Journal of the American Medical Association.
278:51-57.
1997
|
|
| 1997
|
Neurocutaneous syndromes: Neurofibromatosis 1, neurofibromatosis 2, and tuberous sclerosis.
Current Opinion in Neurology.
10:131-136.
1997
|
|
| 1997
|
Genetic haterogeneity of familial atrial myxoma syndromes (Carney complex).
American Journal of Cardiology.
79:994-995.
1997
|
|
| 1997
|
Deletion of the entire NF1 gene causing distinct manifestations in a family.
American Journal of Medical Genetics Part A.
69:98-101.
1997
|
|
| 1997
|
Somatic mosaicism for deletion of the entire NFI gene identified by FISH.
Human Genetics.
99:209-213.
1997
|
|
| 1997
|
Limb anomalies in DiGeorge and CHARGE syndromes.
American Journal of Medical Genetics Part A.
68:179-181.
1997
|
|
| 1997
|
Genetics: Editorial overview.
Current Opinion in Pediatrics.
9:597-599.
1997
|
|
| 1996
|
Pitfalls in the interpretation of molecular diagnostic tests.
Journal of Clinical Laboratory Analysis.
10:368-374.
1996
|
|
| 1996
|
Allele-specific replication of 15q11-q13 loci: A diagnostic test for detection of uniparental disomy.
American Journal of Human Genetics.
59:423-430.
1996
|
|
| 1996
|
Ophthalmological issues in the neurofibromatoses.
Journal of Pediatric Ophthalmology and Strabismus.
33:255-259.
1996
|
|
| 1996
|
Distal 8p deletion (8)(p23.1): An easily missed chromosomal abnormality that may be associated with congenital heart defect and mental retardation.
American Journal of Medical Genetics Part A.
62:77-83.
1996
|
|
| 1996
|
Distal 8p deletion (8)(p23.1): an easily missed chromosomal abnormality that may be associated with congenital heart defect and mental retardation..
American Journal of Medical Genetics Part A.
62:77-83.
1996
|
|
| 1996
|
ARMS test for diagnosis of factor V(Leiden) mutation, a common cause of inherited thrombotic tendency.
Journal of Clinical Laboratory Analysis.
10:414-417.
1996
|
|
| 1996
|
ARMS test for diagnosis of factor VLeiden mutation, a common cause of inherited thrombotic tendency..
Journal of Clinical Laboratory Analysis.
10:414-417.
1996
|
|
| 1996
|
Advances in molecular diagnosis.
Current Opinion in Obstetrics and Gynecology.
8:130-134.
1996
|
|
| 1996
|
Genetics and the population.
Current Opinion in Pediatrics.
8:615-617.
1996
|
|
| 1996
|
Neurobehavioral profiles of children with neurofibromatosis 1 referred for learning disabilities are sex-specific.
American Journal of Medical Genetics Part A.
67:127-132.
1996
|
|
| 1996
|
Pitfalls in the interpretation of molecular diagnostic tests..
Journal of Clinical Laboratory Analysis.
10:368-374.
1996
|
|
| 1995
|
Molecular diagnosis.
New England Journal of Medicine.
332:1499-1502.
1995
|
|
| 1995
|
"New" mechanisms of genetic disease..
Current Opinion in Pediatrics.
7:695-698.
1995
|
|
| 1995
|
17q Inversion involving the neurofibromatosis type one locus in a family with neurofibromatosis type one.
American Journal of Medical Genetics Part A.
60:312-316.
1995
|
|
| 1995
|
CHARGE association in a child with de novo inverted duplication (14)(q22→q24.3).
American Journal of Medical Genetics Part A.
57:610-614.
1995
|
|
| 1995
|
Deletion of the entire NF1 gene detected by fish: Four deletion patients associated with severe manifestations.
American Journal of Medical Genetics Part A.
59:528-535.
1995
|
|
| 1995
|
Molecular medicine molecular diagnosis.
New England Journal of Medicine.
332:1218-1221.
1995
|
|
| 1995
|
Preliminary phenotypic map of chromosome 4p16 based on 4p deletions.
American Journal of Medical Genetics Part A.
57:581-586.
1995
|
|
| 1994
|
The evolving role of clinical genetics in medicine: Commentary.
Current Opinion in Pediatrics.
6:687-689.
1994
|
|
| 1993
|
Neuroimaging in children with neurofibromatosis type 1..
Journal of Pediatrics.
122:834-835.
1993
|
|
| 1993
|
Advances in genetic diagnosis.
Current Opinion in Pediatrics.
5:720-727.
1993
|
|
| 1993
|
Genetics: Editorial overview.
Current Opinion in Pediatrics.
5:705-706.
1993
|
|
| 1993
|
Interstitial deletion of distal chromosome 4p in a patient without classical Wolf-Hirschhorn syndrome.
American Journal of Medical Genetics Part A.
45:97-100.
1993
|
|
| 1993
|
National Neurofibromatosis Foundation International Database.
American Journal of Medical Genetics Part A.
45:88-91.
1993
|
|
| 1993
|
Neuroimaging in children with neurofibromatosis type 1.
Journal of Pediatrics.
122:834.
1993
|
|
| 1993
|
Patterns of Seizures Observed in Association with Neurofibromatosis 1.
Epilepsia.
34:616-620.
1993
|
|
| 1993
|
Stage III neuroblastoma over 1 year of age at diagnosis: Improved survival with intensive multimodality therapy including multiple alkylating agents.
Journal of Clinical Oncology.
11:84-90.
1993
|
|
| 1993
|
The Human Genome Project: Implications for the practicing obstetrician.
Obstetrics and Gynecology.
81:458-462.
1993
|
|
| 1992
|
Diagnostic outcome in children with multiple cafe au lait spots.
Pediatrics.
90:924-927.
1992
|
|
| 1992
|
A Neurogeneticist's Perspective.
Ethics and Behavior.
2:131-133.
1992
|
|
| 1992
|
A syndrome of autosomal dominant alternating hemiplegia: Clinical presentation mimicking intractable epilepsy; chromosomal studies; and physiologic investigations.
Neurology.
42:2251-2257.
1992
|
|
| 1992
|
Case vignette: genetic secrets..
Ethics and Behavior.
2:129-139.
1992
|
|
| 1992
|
Characterization of N-myc amplification in a human neuroblastoma cell line by clones isolated following the phenol emulsion reassociation technique and by hexagonal field gel electrophoresis..
Mammalian Genome.
2:11-20.
1992
|
|
| 1992
|
Prediction of dystrophin phenotype by DNA analysis in Duchenne/Becker muscular dystrophy.
Pediatric Neurology.
8:432-436.
1992
|
|
| 1991
|
Characterization of N-myc amplification in a human neuroblastoma cell line by clones isolated following the phenol emulsion reassociation technique and by hexagonal field gel electrophoresis.
Mammalian Genome.
2:11-20.
1991
|
|
| 1991
|
Consistent cytogenetic aberrations in hepatoblastoma: A common pathway of genetic alterations in embryonal liver and skeletal muscle malignancies?
1991
|
|
| 1991
|
Galactose metabolism and reproductive history in women with type 1 neurofibromatosis.
American Journal of Medical Genetics Part A.
39:502-508.
1991
|
|
| 1991
|
Genetics: Editorial overview.
Current Opinion in Pediatrics.
3:1021-1023.
1991
|
|
| 1991
|
Locomotor problems in infantile facioscapulohumeral muscular dystrophy: Retrospective study of 9 patients.
Acta Orthopaedica.
62:367-371.
1991
|
|
| 1991
|
Stage IV neuroblastoma in infants. Long‐term survival.
Cancer.
67:1493-1497.
1991
|
|
| 1990
|
myc Gene Amplification and Expression in Primary Human Neuroblastoma.
Cancer Research.
50:1459-1463.
1990
|
|
| 1990
|
Genetic linkage of the human apolipoprotein AI-CIII-AIV gene cluster and the neural cell adhesion molecule (NCAM) gene.
Genomics.
7:633-637.
1990
|
|
| 1990
|
Phenotypic heterogeneity of spinal muscular atrophy mapping to chromosome 5q11.2-13.3 (SMA 5q).
Neurology.
40:1831-1836.
1990
|
|
| 1989
|
Flanking markers for the gene causing von Recklinghausen neurofibromatosis (NF1).
American Journal of Human Genetics.
44:30-32.
1989
|
|
| 1988
|
The neurofibromatoses. What do we know about them?.
Postgraduate medicine.
83:79-88.
1988
|
|
| 1987
|
Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene.
Cell.
49:589-594.
1987
|
|
| 1987
|
Linkage analysis in von Recklinghausen neurofibromatosis (NF1) with DNA markers for chromosome 17.
Genomics.
1:346-348.
1987
|
|
| 1987
|
Rapid cloning of multiple amplified nucleotide sequences from human neuroblastoma cell lines by phenol emulsion competitive DNA reassociation.
Gene.
51:53-59.
1987
|
|
| 1987
|
Reply.
Annals of Neurology.
22:96-97.
1987
|
|
| 1986
|
Amplification and Rearrangement of DNA Sequences from the Chromosomal Region 2p24 in Human Neuroblastomas.
Cancer Research.
46:5297-5301.
1986
|
|
| 1986
|
Bilateral lucency of the globus pallidus complicating methylmalonic acidemia.
Annals of Neurology.
20:364-366.
1986
|
|
| 1986
|
DNA-based detection of chromosome deletion and amplification: Diagnostic and mechanistic significance
1986
|
|
| 1986
|
Novel DNA rearrangement phenomena associated with DNA amplification in human neuroblastomas and neuroblastoma cell lines..
Progress in clinical and biological research.
209 A:601-612.
1986
|
|
| 1986
|
Use of Y chromosome specific probes to detect low level sex chromosome mosaicism
1986
|
|
| 1985
|
Differential amplification, assembly, and relocation of multiple DNA sequences in human neuroblastomas and neuroblastoma cell lines
1985
|
|
| 1985
|
Facioscapulohumeral dystrophy presenting in infancy with facial diplegia and sensorineural deafness.
Annals of Neurology.
17:513-516.
1985
|
|
| 1985
|
Familial aggregation of small congenital nevomelanocytic nevi.
American Journal of Medical Genetics Part A.
22:315-326.
1985
|
|
| 1983
|
'Killian syndrome', Pallister mosaic syndrome, or Mosaic tetrasomy 12P? An analysis.
Dysmorphology and clinical genetics : official publication of the Center for Birth Defects Information Services, Inc.
1:2-5.
1983
|
|
| 1982
|
Centromeres are arranged in clusters throughout the muntjac cell cycle.
Experimental Cell Research.
139:393-396.
1982
|
|
| 1980
|
Absence of true interchromosomal connectives in microsurgically isolated chromosomes.
Experimental Cell Research.
130:377-385.
1980
|
|
| 1979
|
T antigen banding on chromosomes of simian virus 40 infected muntjac cells..
Cytogenetic and Genome Research.
24:27-36.
1979
|
|
| 1978
|
Microsurgically-extracted metaphase chromosomes of the Indian muntjac examined with phase contrast and scanning electron microscopy.
Experimental Cell Research.
111:83-93.
1978
|
|
| 1977
|
Random arrangement of mitotic chromosomes in radial metaphases of the Indian muntjac.
Cytogenetic and Genome Research.
19:335-343.
1977
|
|
| 1976
|
The role of trypsin in the pre-treatment of chromosomes for giemsa banding.
Human Genetics.
31:27-33.
1976
|
|
| 1975
|
Dynamic aspects of trypsin-Giemsa banding.
Humangenetik.
28:233-237.
1975
|
|
| 1975
|
SEX-CHROMOSOME ABNORMALITIES IN HUSBANDS AND WIVES
1975
|
|
| 1975
|
Optimum pH for nuclear sex identification using quinacrine
1975
|
|
| 1974
|
A 21/21 tandem translocation with satellites on both long and short arms.
Journal of Medical Genetics.
11:297-299.
1974
|
|
| 1974
|
Cytogenetic and immunologic studies in chickens with autoimmune thyroiditis.
Journal of Heredity.
65:219-222.
1974
|
|
