Nathaniel Robin

Nathaniel Robin
Professor

Professor (P), Clinical Genetics , Genetics 2003 -
Professor (S), Pediatrics , School of Medicine 2003 -
Scientist (C), Center for Outcomes and Effectiveness Research and Education (COERE) , General Clinical Research Center 2004 -
Professor (S), Surgery - Otolaryngology (Retired Org) , Surgery 2012 -
Acting Director, Clinical Genetics , Genetics 2019 -
Director, Clinical Genetics , Genetics 2019 -

Overview

Dr. Robin completed his MD degree and a pediatric residency at Albert Einstein College of Medicine in Bronx, New York. He was a clinical fellow in the Division of Human Genetics and Molecular Biology and the Division of Biochemical Genetics at The Children's Hospital of Philadelphia, Pennsylvania, where he also served a research fellowship in the laboratory of Max Muenke. Dr. Robin has authored over 115 peer reviewed publications, reviews, and book chapters, and 2 books (Pediatric Cancer Genetics, and Medical Genetics, Its Application to Speech, Hearing, and Craniofacial Disorders). Dr. Robin has presented nationally on the topics of craniofacial genetics and deafness. Dr Robin directs the UAB Medical Genetics Residency programs, and supervises the medical educational activities for the UAB Department of Genetics. In his clinical practice Dr Robin sees patients for any indication, including intellectual disability and syndrome identification. His main clinical interests are in clefting and craniofacial genetics, skeletal disorders, and cardiovascular diseases, including 22qdeletion syndrome and Marfan syndrome.

Selected Publications

Academic Article

Year	Title	Altmetric
2020	Inherited cause of in utero digital malformations 2020
2020	Dysmorphology in the era of genomic diagnosis 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 2019
2018	A previously unrecognized 22q13.2 microdeletion syndrome that encompasses TCF20 and TNFRSF13C 2018
2018	Editorial introductions 2018
2018	Teaching dysmorphology in the era of genomics: new technologies, new learners 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. 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 2017
2017	Clinical relevance of small copy-number variants in chromosomal microarray clinical testing 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 2017
2016	Growth parameters: The cheap and easy genetic test 2016
2016	Radiogenomics: Towards a personalized radiation oncology 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 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	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 2015
2015	Newborn Craniofacial Malformations: Orofacial Clefting and Craniosynostosis 2015
2015	Predictor(s) of abnormal array comparative genomic hybridization results in patients with cleft lip and/or palate 2015
2015	The genetics assessment of pediatric cancer 2015
2014	Incidental detection of cancer predisposition gene copy number variations by array comparative genomic hybridization 2014
2014	Array comparative genomic hybridisation testing in CHD 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 2014
2014	Copy number analysis of nipbl in a cohort of 510 patients reveals rare copy number variants and a mosaic deletion 2014
2014	Editorial introductions 2014
2014	International adoption of children with birth defects: Current knowledge and areas for further research 2014
2014	The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: A proposed categorization system 2014
2014	The use by medical examiners of genetic testing for long QT syndrome in suspected sudden cardiac death 2014
2013	We need to know our limitations: Genetic testing for complex traits 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 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 2012
2012	The development and implementation of an in-service exam for medical genetics residency programs 2012
2012	Pathologic features of dilated cardiomyopathy with localized noncompaction in a child with deletion 1p36 syndrome 2012
2011	Dysmorphology in the era of whole exome sequencing 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 2011
2011	Editorial introductions 2011
2010	Current Opinion in Pediatrics: Editorial introductions 2010
2010	Direct-to-consumer genetic testing 2010
2010	IRF6 mutations in mixed isolated familial clefting 2010
2010	Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations 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. 2010
2009	Current Opinion in Pediatrics: Editorial introductions 2009
2009	Why physicians must understand evolution 2009
2009	Familial transmission of oculoauriculovertebral spectrum (Goldenhar syndrome) is not due to mutations in either EYA1 or SALL1 2009
2009	AsktheGeneticist^SM: Five years of online experience 2009
2008	Editorial introductions 2008
2008	Treatment for genetic diseases 2008
2008	The use of role-play to enhance medical student understanding of genetic counseling 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 2008
2008	Isolated facial hemihyperplasia: Manifestation of beckwith-wiedemann syndrome 2008
2007	Caring for adults with pediatric genetic diseases: A growing need 2007
2007	Editorial introductions 2007
2007	Genetic Testing in Cardiovascular Disease 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 2007
2007	Pediatric otolaryngologists' use of genetic testing 2007
2006	Editorial introductions 2006
2006	It does matter: The importance of making the diagnosis of a genetic syndrome 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 2006
2006	A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus 2006
2006	Dysmorphic and anthropometric outcomes in 6-year-old prenatally cocaine-exposed children 2006
2006	Intrafamilial variability of noncompaction of the ventricular myocardium 2006
2005	Editorial introductions 2005
2005	The use of genetic testing in the evaluation of hearing impairment in a child 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 2005
2004	Editorial introductions 2004
2004	Genetic testing will bring interesting times to clinical practice 2004
2004	Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B 2004
2004	Genetic testing for deafness is here, but how do we do it? 2004
2004	The primary care physician's approach to congenital anomalies 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 2003
2003	Genetic Testing for Deafness in Clinical Practice 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] 2002
2002	Delay in diagnosis of Williams syndrome 2002
2002	Genetic testing for deafness - GJB2 and SLC26A4 as causes of deafness 2002
2002	Response to Lacassie 2002
2001	Distal 5q deletion syndrome: Phenotypic correlations 2001
2001	Considerations for a multiaxis nomenclature system for medical genetics 2001
2001	Genetic advances in central nervous system malformations in the fetus and neonate 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? 2000
2000	Parental attitudes toward genetic testing for pediatric deafness 2000
2000	Serum α-fetoprotein levels in Beckwith-Wiedemann syndrome 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 1999
1999	Child with mosaic variegated aneuploidy and embryonal rhabdomyosarcoma 1999
1999	Molecular genetic advances in understanding craniosynostosis 1999
1999	Molecular refinement of karyotype: Beyond the cytogenetic band 1999
1999	The mutational spectrum of the Sonic Hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly 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 1998
1998	Severe oculocerebrocutaneous (Delleman) syndrome: Overlap with goldenhar anomaly 1998
1998	Deletion 22q11: A newly recognized cause of behavioral and psychiatric disorders 1998
1998	Pendular nystagmus in patients with peroxisomal assembly disorder 1998
1998	Favorable prognosis for children with Pfeiffer syndrome types 2 and 3: Implications for classification 1998
1998	Hypermobility syndrome. 1998
1998	Picture of the month 1998
1998	Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the α2 (XI) chain of type XI collagen 1998
1998	The heart and the ear [2] (multiple letters) 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 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 1997
1997	Genetic drift. The awful truth. 1997
1997	Mutations in CDMP1 cause autosomal dominant brachydactyly type C. 1997
1997	Recurrent immune cytopenias in two patients with DiGeorge/velocardiofacial syndrome 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. 1996
1996	The good that we do. 1996
1995	Classical Noonan syndrome is not associated with deletions of 22qll 1995
1995	Mutations in FGFR1 and FGFR2 cause familial and sporadic pfeiffer syndrome 1995
1995	I'm worried about this daughter. 1995
1995	A gene for cleidocranial dysplasia maps to the short arm of chromosome 6 1995
1995	Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2 1995
1994	Non-immune hydrops fetalis associated with impaired fetal movement: A case report and review 1994
1994	Reports: Linkage of pfeiffer syndrome to chromosome 8 centromere and evidence for genetic heterogeneity 1994
1994	A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome 1994
1994	Unusual craniofacial dysmorphia due to prenatal alcohol and cocaine exposure 1994
1993	New finding of Schinzel-Giedion syndrome: A case with a malignant sacrococcygeal teratoma 1993
1993	Human malformations similar to those in the mouse mutation disorganization (Ds) 1993
1993	Shooting the dinosaur. 1993
1993	De novo interstitial deletion of the long arm of chromosome 3:46, XX, del(3) (q25.1q26.1) 1993

Book

Year	Title	Altmetric
2018	Preface 2018
2017	Pediatric Cancer Genetics, 1st Edition 2017
2017	Pediatric Cancer Genetics 2017
2008	Medical Genetics Its Application to Speech, Hearing, and Craniofacial Disorders 2008

Chapter

Year	Title	Altmetric
2019	Congenital heart defects. 3-75. 2019
2018	Case Examples. 115-119. 2018
2018	Ethical and Legal Issues. 93-100. 2018
2018	The Genetic Evaluation of a Child With Cancer. 21-31. 2018
2015	Genetic disorders, Malformations, and Inborn Errors 2015
2014	Congenital Heart Defects 2014
2013	Congenital Heart Defects. 1-51. 2013
2012	Genetic counselling. 183-198. 2012