| Year |
Title |
Altmetric |
| 2022
|
Near complete deletion of KMT2D in a college student
2022
|
|
| 2022
|
The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study.
Human Genetics.
141:853-863.
2022
|
|
| 2022
|
Interpretation and reporting of large regions of homozygosity and suspected consanguinity/uniparental disomy, 2021 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG).
Genetics in Medicine.
24:255-261.
2022
|
|
| 2022
|
The relationship between performance on the medical genetics and genomics in-training and certifying examinations.
Genetics in Medicine.
24:225-231.
2022
|
|
| 2021
|
Occam's razor dulled: the occurrence of multiple genetic diagnoses.
Current Opinion in Pediatrics.
33:545-548.
2021
|
|
| 2021
|
Genetic testing hearing loss: The challenge of non syndromic mimics.
International Journal of Pediatric Otorhinolaryngology.
150.
2021
|
|
| 2021
|
The first post-natal clinical description of true mosaic complete tetrasomy 21: A case report
2021
|
|
| 2021
|
Choose your words carefully
2021
|
|
| 2021
|
Mandibular Distraction Osteogenesis as a Primary Intervention in Infants With Pierre Robin Sequence.
Annals of Plastic Surgery.
86:S545-S549.
2021
|
|
| 2021
|
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
American Journal of Human Genetics.
108:502-516.
2021
|
|
| 2021
|
Genetic consultations in cases of unexplained fractures and haemorrhage: An evidence-based approach.
Current Opinion in Pediatrics.
33:3-18.
2021
|
|
| 2021
|
JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome.
Genetics in Medicine.
23:374-383.
2021
|
|
| 2021
|
Medical genetics, expert medical testimony, and suspected child abuse cases: A call for evidencebased standards in clinic and the courtroom.
Current Opinion in Pediatrics.
33:1-2.
2021
|
|
| 2021
|
Attitudes of deaf individuals towards genetic testing of genes known to cause hearing loss
2021
|
|
| 2021
|
Stickler syndrome (SS): Laser prophylaxis for retinal detachment (modified ora secunda cerclage, osc/ss).
Clinical Ophthalmology.
15:19-29.
2021
|
|
| 2020
|
Editorial introductions.
Current Opinion in Pediatrics.
32.
2020
|
|
| 2020
|
Stickler syndrome: A review of clinical manifestations and the genetics evaluation.
Journal of Personalized Medicine.
10:1-8.
2020
|
|
| 2020
|
Inherited cause of in utero digital malformations.
BMJ Case Reports.
13.
2020
|
|
| 2020
|
Dysmorphology in the era of genomic diagnosis.
Journal of Personalized Medicine.
10.
2020
|
|
| 2020
|
Simultaneous osteosarcoma and renal cell carcinoma with BRCA1 mutation in a young male adult with prior oligodendroglioma
2020
|
|
| 2020
|
The duty to warn at-risk relatives—The experience of genetic counselors and medical geneticists
2020
|
|
| 2019
|
Editorial: Neonatal management of achondroplasia: One hospital's geosocial approach to improve patient outcomes.
Current Opinion in Pediatrics.
31:691-693.
2019
|
|
| 2019
|
Editorial: Neonatal management of achondroplasia: one hospital's geosocial approach to improve patient outcomes..
Current Opinion in Pediatrics.
31:691-693.
2019
|
|
| 2018
|
A previously unrecognized 22q13.2 microdeletion syndrome that encompasses TCF20 and TNFRSF13C
2018
|
|
| 2018
|
Editorial introductions.
Current Opinion in Pediatrics.
30:v-vi.
2018
|
|
| 2018
|
Teaching dysmorphology in the era of genomics: new technologies, new learners.
Current Opinion in Pediatrics.
30:699-700.
2018
|
|
| 2018
|
Novel de novo pathogenic variant in the NR2F2 gene in a boy with congenital heart defect and dysmorphic features
2018
|
|
| 2018
|
A case report of chromosome 17q22-qter trisomy with distinct clinical presentation and review of the literature..
Clinical Case Reports.
6:612-616.
2018
|
|
| 2018
|
Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome
2018
|
|
| 2017
|
Programme directors' opinions on medical genetics education in pediatric residency programmes.
Current Opinion in Pediatrics.
29:619-621.
2017
|
|
| 2017
|
Clinical relevance of small copy-number variants in chromosomal microarray clinical testing.
Genetics in Medicine.
19:377-385.
2017
|
|
| 2017
|
Foramen magnum compression in Coffin–Lowry syndrome: A case report
2017
|
|
| 2017
|
De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia.
Journal of Medical Genetics.
54:93-99.
2017
|
|
| 2016
|
Growth parameters: The cheap and easy genetic test.
Current Opinion in Pediatrics.
28:679-681.
2016
|
|
| 2016
|
Radiogenomics: Towards a personalized radiation oncology.
Current Opinion in Pediatrics.
28:713-717.
2016
|
|
| 2016
|
Trisomy 18: A survey of opinions, attitudes, and practices of neonatologists
2016
|
|
| 2016
|
De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.
American Journal of Human Genetics.
99:720-727.
2016
|
|
| 2016
|
IRF6 sequencing in interrupted clefting
2016
|
|
| 2016
|
Trisomy 18: A single-center evaluation of management trends and experience with aggressive obstetric or neonatal intervention
2016
|
|
| 2016
|
Sixteenth-century German woodcut of a male infant with possible disorganization
2016
|
|
| 2016
|
Cleft palate in a patient with the nested 22q11.2 LCR C to D deletion
2016
|
|
| 2015
|
Predictor(s) of abnormal array comparative genomic hybridization results in patients with cleft lip and/or palate
2015
|
|
| 2015
|
Newborn Craniofacial Malformations: Orofacial Clefting and Craniosynostosis.
Clinics in Perinatology.
42:321-336.
2015
|
|
| 2015
|
Sex-discordant monochorionic twins with blood and tissue chimerism
2015
|
|
| 2015
|
Diagnostic accuracy of pulmonary host inflammatory mediators in the exclusion of ventilator-acquired pneumonia.
Thorax.
70:41-47.
2015
|
|
| 2015
|
The genetics assessment of pediatric cancer.
Current Opinion in Pediatrics.
27:657-658.
2015
|
|
| 2014
|
Incidental detection of cancer predisposition gene copy number variations by array comparative genomic hybridization.
Journal of Pediatrics.
165:1057-1059.e4.
2014
|
|
| 2014
|
The use by medical examiners of genetic testing for long QT syndrome in suspected sudden cardiac death.
Archives of Pathology and Laboratory Medicine.
138:1425.
2014
|
|
| 2014
|
Array comparative genomic hybridisation testing in CHD.
Cardiology in the Young.
25:1155-1172.
2014
|
|
| 2014
|
Copy number analysis of nipbl in a cohort of 510 patients reveals rare copy number variants and a mosaic deletion.
Molecular Genetics and Genomic Medicine.
2:115-123.
2014
|
|
| 2014
|
Classic phenotype of Coffin-lowry syndrome in a female with stimulus-induced drop episodes and a genotype with preserved N-terminal kinase domain
2014
|
|
| 2014
|
American college of medical genetics and genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss.
Genetics in Medicine.
16:347-355.
2014
|
|
| 2014
|
Editorial introductions.
Current Opinion in Pediatrics.
26:v-vi.
2014
|
|
| 2014
|
International adoption of children with birth defects: Current knowledge and areas for further research.
Current Opinion in Pediatrics.
26:621-625.
2014
|
|
| 2014
|
The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: A proposed categorization system.
Genetics in Medicine.
16:92-100.
2014
|
|
| 2013
|
We need to know our limitations: Genetic testing for complex traits.
Current Opinion in Pediatrics.
25:643-644.
2013
|
|
| 2013
|
Craniosynostosis and radial ray defect: A rare presentation of 22q11.2 deletion syndrome
2013
|
|
| 2013
|
Educating the adolescent and young adult with cystic fibrosis about their reproductive risks and options.
Chest.
143:580-581.
2013
|
|
| 2013
|
Utilizing high-fidelity crucial conversation simulation in genetic counseling training
2013
|
|
| 2012
|
Clinical application of whole exome sequencing: Not (yet) ready for primetime.
Current Opinion in Pediatrics.
24:663-664.
2012
|
|
| 2012
|
The development and implementation of an in-service exam for medical genetics residency programs.
Genetics in Medicine.
14:552-557.
2012
|
|
| 2012
|
Pathologic features of dilated cardiomyopathy with localized noncompaction in a child with deletion 1p36 syndrome.
Congenital Heart Disease.
7:59-61.
2012
|
|
| 2011
|
Dysmorphology in the era of whole exome sequencing.
Current Opinion in Pediatrics.
23:579-580.
2011
|
|
| 2011
|
The mall test (or fun with a dysmorphologist)
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
2011
|
|
| 2011
|
Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: A susceptibility region for neurological dysfunction including developmental and language delay.
Human Genetics.
130:517-528.
2011
|
|
| 2011
|
Editorial introductions.
Current Opinion in Pediatrics.
23.
2011
|
|
| 2010
|
Current Opinion in Pediatrics: Editorial introductions.
Current Opinion in Pediatrics.
22.
2010
|
|
| 2010
|
Direct-to-consumer genetic testing.
Current Opinion in Pediatrics.
22:685-686.
2010
|
|
| 2010
|
IRF6 mutations in mixed isolated familial clefting
2010
|
|
| 2010
|
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
Human Mutation.
31:1142-1154.
2010
|
|
| 2010
|
Further delineation of the Kapur-Toriello syndrome
2010
|
|
| 2010
|
Imperforate anus is a rare associated finding in blepharocheilodontic syndrome
2010
|
|
| 2010
|
Use of array comparative genome hybridization in orofacial clefting..
Journal of Craniofacial Surgery.
21:1591-1594.
2010
|
|
| 2009
|
Current Opinion in Pediatrics: Editorial introductions.
Current Opinion in Pediatrics.
21.
2009
|
|
| 2009
|
Why physicians must understand evolution.
Current Opinion in Pediatrics.
21:699-702.
2009
|
|
| 2009
|
Familial transmission of oculoauriculovertebral spectrum (Goldenhar syndrome) is not due to mutations in either EYA1 or SALL1
2009
|
|
| 2009
|
AsktheGeneticistSM: Five years of online experience.
Genetics in Medicine.
11:294-304.
2009
|
|
| 2008
|
Editorial introductions.
Current Opinion in Pediatrics.
20.
2008
|
|
| 2008
|
Treatment for genetic diseases.
Current Opinion in Pediatrics.
20:625-627.
2008
|
|
| 2008
|
The use of role-play to enhance medical student understanding of genetic counseling.
Genetics in Medicine.
10:739-744.
2008
|
|
| 2008
|
Locus homogeneity between syndactyly type 1A and craniosynostosis Philadelphia type?
2008
|
|
| 2008
|
Additional EFNB1 mutations in craniofrontonasal syndrome
2008
|
|
| 2008
|
The use by alabama pediatricians of genetics consultation in the evaluation of developmental delay
2008
|
|
| 2008
|
Genetic and reproductive knowledge among adolescents and adults with cystic fibrosis.
Chest.
133:1533.
2008
|
|
| 2008
|
Isolated facial hemihyperplasia: Manifestation of beckwith-wiedemann syndrome.
Journal of Craniofacial Surgery.
19:279-283.
2008
|
|
| 2007
|
Caring for adults with pediatric genetic diseases: A growing need.
Current Opinion in Pediatrics.
19:611-612.
2007
|
|
| 2007
|
Editorial introductions.
Current Opinion in Pediatrics.
19.
2007
|
|
| 2007
|
Genetic Testing in Cardiovascular Disease.
Journal of the American College of Cardiology.
50:727-737.
2007
|
|
| 2007
|
Overlapping phenotype of Wolf-Hirschhorn and Beckwith-Wiedemann syndromes in a girl with der(4)t(4;11)(pter;pter)
2007
|
|
| 2007
|
A genetic model for cloacal exstrophy, the extreme cloacal malformation.
Journal of Pediatric Urology.
3:214-217.
2007
|
|
| 2007
|
Pediatric otolaryngologists' use of genetic testing
2007
|
|
| 2006
|
Editorial introductions.
Current Opinion in Pediatrics.
18.
2006
|
|
| 2006
|
It does matter: The importance of making the diagnosis of a genetic syndrome.
Current Opinion in Pediatrics.
18:595-597.
2006
|
|
| 2006
|
Polymicrogyria and deletion 22q11.2 syndrome: Window to the etiology of a common cortical malformation
2006
|
|
| 2006
|
The multidisciplinary evaluation and management of cleft lip and palate.
Southern Medical Journal.
99:1111-1120.
2006
|
|
| 2006
|
A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus.
Human Genetics.
120:262-269.
2006
|
|
| 2006
|
Dysmorphic and anthropometric outcomes in 6-year-old prenatally cocaine-exposed children.
Neurotoxicology and Teratology.
28:28-38.
2006
|
|
| 2006
|
Intrafamilial variability of noncompaction of the ventricular myocardium.
American Heart Journal.
151:1012.e7-1012.e14.
2006
|
|
| 2005
|
Editorial introductions.
Current Opinion in Pediatrics.
17.
2005
|
|
| 2005
|
The use of genetic testing in the evaluation of hearing impairment in a child.
Current Opinion in Pediatrics.
17:709-712.
2005
|
|
| 2005
|
Clefting, amniotic bands, and polydactyly: A distinct phenotype that supports an intrinsic mechanism for amniotic band sequence
2005
|
|
| 2005
|
Defining the clinical spectrum of deletion 22q11.2.
Journal of Pediatrics.
147:90-96.
2005
|
|
| 2004
|
Editorial introductions.
Current Opinion in Pediatrics.
16.
2004
|
|
| 2004
|
Genetic testing will bring interesting times to clinical practice.
Current Opinion in Pediatrics.
16:667-669.
2004
|
|
| 2004
|
Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B.
Nature Genetics.
36:1159-1161.
2004
|
|
| 2004
|
Genetic testing for deafness is here, but how do we do it?.
Genetics in Medicine.
6:463-464.
2004
|
|
| 2004
|
The primary care physician's approach to congenital anomalies.
Primary Care: Clinics in Office Practice.
31:605-619.
2004
|
|
| 2004
|
Cardiomyopathy in Coffin-Lowry syndrome
2004
|
|
| 2004
|
Cohen syndrome in the Ohio Amish
2004
|
|
| 2004
|
Commentary on Robin's A Smile, and the Need for Counseling Skills in the Clinic [4] (multiple letters)
2004
|
|
| 2003
|
Medical geneticists' duty to warn at-risk relatives for genetic disease
2003
|
|
| 2003
|
Attitudes of African American premedical students toward genetic testing and screening.
Genetics in Medicine.
5:49-54.
2003
|
|
| 2003
|
Genetic Testing for Deafness in Clinical Practice.
Audiological Medicine.
1:89-93.
2003
|
|
| 2003
|
Genetic drift. A few moments.
2003
|
|
| 2003
|
Genetic drift. A smile.
2003
|
|
| 2002
|
Mixed clefting type in Rapp-Hodgkin syndrome.
2002
|
|
| 2002
|
A variant of osteogenesis imperfecta type IV with resolving kyphomelia is caused by a novel COL1A2 mutation [4].
Journal of Medical Genetics.
39:128-132.
2002
|
|
| 2002
|
Delay in diagnosis of Williams syndrome.
Clinical Pediatrics.
41:257-261.
2002
|
|
| 2002
|
Genetic testing for deafness - GJB2 and SLC26A4 as causes of deafness.
Journal of Communication Disorders.
35:367-377.
2002
|
|
| 2002
|
Response to Lacassie.
Genetics in Medicine.
4:96.
2002
|
|
| 2001
|
Distal 5q deletion syndrome: Phenotypic correlations
2001
|
|
| 2001
|
Considerations for a multiaxis nomenclature system for medical genetics.
Genetics in Medicine.
3:290-293.
2001
|
|
| 2001
|
Genetic advances in central nervous system malformations in the fetus and neonate.
Seminars in Pediatric Neurology.
8:89-99.
2001
|
|
| 2001
|
Genetic testing and genetic counseling for deafness: The future is here
2001
|
|
| 2001
|
Pediatric otolaryngologists' knowledge and understanding of genetic testing for deafness
2001
|
|
| 2001
|
What information do parents of newborns with cleft lip, palate, or both want to know?
2001
|
|
| 2000
|
Adult with an interstitial deletion of chromosome 10 [del(10)(q25.1q25.3)]: Overlap with Coffin-Lowry syndrome
2000
|
|
| 2000
|
Epiglottic hypoplasia associated with lacrimo-auriculo-dental-digital syndrome
2000
|
|
| 2000
|
Genetic counseling in primary care: What questions are patients likely to ask, and how should they be answered?.
Postgraduate Medicine.
107:59-66.
2000
|
|
| 2000
|
Parental attitudes toward genetic testing for pediatric deafness.
American Journal of Human Genetics.
67:1621-1625.
2000
|
|
| 2000
|
Serum α-fetoprotein levels in Beckwith-Wiedemann syndrome.
Journal of Pediatrics.
137:123-127.
2000
|
|
| 1999
|
Microcephaly-lymphedema-chorioretinal dysplasia: A unique genetic syndrome with variable expression and possible characteristic facial appearance
1999
|
|
| 1999
|
Clinical and molecular studies of brachydactyly type D
1999
|
|
| 1999
|
Agenesis of the corpus callosum associated with DiGeorge- velocardiofacial syndrome: A case report and review of the literature.
Journal of Child Neurology.
14:754-756.
1999
|
|
| 1999
|
Child with mosaic variegated aneuploidy and embryonal rhabdomyosarcoma
1999
|
|
| 1999
|
Molecular genetic advances in understanding craniosynostosis.
Plastic and Reconstructive Surgery.
103:1060-1070.
1999
|
|
| 1999
|
Molecular refinement of karyotype: Beyond the cytogenetic band.
Genetics in Medicine.
1:254-261.
1999
|
|
| 1999
|
The mutational spectrum of the Sonic Hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.
Human Molecular Genetics.
8:2479-2488.
1999
|
|
| 1998
|
Nonpenetrance in FGFR3-associated coronal synostosis syndrome [5]
1998
|
|
| 1998
|
Molecular characterization and delineation of subtle deletions in de novo 'balanced' chromosomal rearrangements.
Human Genetics.
103:173-178.
1998
|
|
| 1998
|
Severe oculocerebrocutaneous (Delleman) syndrome: Overlap with goldenhar anomaly
1998
|
|
| 1998
|
Deletion 22q11: A newly recognized cause of behavioral and psychiatric disorders.
JAMA Pediatrics.
152:481-484.
1998
|
|
| 1998
|
Pendular nystagmus in patients with peroxisomal assembly disorder.
Archives of Neurology.
55:554-558.
1998
|
|
| 1998
|
Favorable prognosis for children with Pfeiffer syndrome types 2 and 3: Implications for classification
1998
|
|
| 1998
|
Hypermobility syndrome..
Pediatrics in Review.
19:111-117.
1998
|
|
| 1998
|
Picture of the month.
JAMA Pediatrics.
152:89-90.
1998
|
|
| 1998
|
Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the α2 (XI) chain of type XI collagen.
Journal of Pediatrics.
132:368-371.
1998
|
|
| 1998
|
The heart and the ear [2] (multiple letters).
Journal of Pediatrics.
133:167-168.
1998
|
|
| 1997
|
Disorganization in mice and humans and its relation to sporadic birth defects
1997
|
|
| 1997
|
Rapid publication clinical and locus heterogeneity in brachydactyly type C
1997
|
|
| 1997
|
A novel phenotypic pattern in X-linked inheritance: Craniofrontonasal syndrome maps to Xp22.
Human Molecular Genetics.
6:1937-1941.
1997
|
|
| 1997
|
Duplication 14(q24.3q31) in a Father and daughter: Delineation of a possible imprinted region
1997
|
|
| 1997
|
Sibs with cleidocranial dysplasia born to normal parents: Germ line mosaicism?
1997
|
|
| 1997
|
Clinical and locus heterogeneity in brachydactyly type C.
1997
|
|
| 1997
|
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.
American Journal of Human Genetics.
60:555-564.
1997
|
|
| 1997
|
Genetic drift. The awful truth.
1997
|
|
| 1997
|
Mutations in CDMP1 cause autosomal dominant brachydactyly type C..
Nature Genetics.
17:18-19.
1997
|
|
| 1997
|
Recurrent immune cytopenias in two patients with DiGeorge/velocardiofacial syndrome.
Journal of Pediatrics.
131:484-486.
1997
|
|
| 1996
|
Syntelencephaly in an Infant of a Diabetic Mother
1996
|
|
| 1996
|
Relations.
1996
|
|
| 1996
|
Opitz G/BBB syndrome: Clinical comparisons of families linked to Xp22 and 22q, and a review of the literature
1996
|
|
| 1996
|
Craniosynostosis, Philadelphia type: A new autosomal dominant syndrome with sagittal craniosynostosis and syndactyly of the fingers and toes
1996
|
|
| 1996
|
Frontonasal malformation and cloacal exstrophy: A previously unreported association
1996
|
|
| 1996
|
Congenital muscular torticollis..
Pediatrics in Review.
17:374-375.
1996
|
|
| 1996
|
The good that we do.
1996
|
|
| 1995
|
Mutations in FGFR1 and FGFR2 cause familial and sporadic pfeiffer syndrome.
Human Molecular Genetics.
4:323-328.
1995
|
|
| 1995
|
I'm worried about this daughter..
Journal of Family Practice.
40:199-200.
1995
|
|
| 1995
|
A gene for cleidocranial dysplasia maps to the short arm of chromosome 6.
American Journal of Human Genetics.
56:938-943.
1995
|
|
| 1995
|
Classical Noonan syndrome is not associated with deletions of 22qll
1995
|
|
| 1995
|
Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2.
Nature Genetics.
11:459-461.
1995
|
|
| 1994
|
Reports: Linkage of pfeiffer syndrome to chromosome 8 centromere and evidence for genetic heterogeneity.
Human Molecular Genetics.
3:2153-2158.
1994
|
|
| 1994
|
A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome.
Nature Genetics.
8:269-274.
1994
|
|
| 1994
|
Non-immune hydrops fetalis associated with impaired fetal movement: A case report and review
1994
|
|
| 1994
|
Unusual craniofacial dysmorphia due to prenatal alcohol and cocaine exposure
1994
|
|
| 1993
|
Human malformations similar to those in the mouse mutation disorganization (Ds).
Human Genetics.
92:461-464.
1993
|
|
| 1993
|
Shooting the dinosaur..
Journal of Family Practice.
37:399.
1993
|
|
| 1993
|
De novo interstitial deletion of the long arm of chromosome 3:46, XX, del(3) (q25.1q26.1)
1993
|
|
| 1993
|
New finding of Schinzel-Giedion syndrome: A case with a malignant sacrococcygeal teratoma
1993
|
|
