The most recent articles published online

April 15, 2013

HUMAN GENETICS (General Aspects)

• Clinical decision support for genetically guided personalized medicine: a systematic review -- Welch and Kawamoto - J Am Med Inform Assoc 2013; 20(2): 388-400 (Free)
• Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis - The Lancet, Early Online Publication, 28 February 2013
• Genome-wide association studies: what a psychiatrist needs to know - Nick Craddock - APT 2013, 19(2): 82-88
• Genomic Instability in Cancer - Abbas et al. - Cold Spring Harb Perspect Biol 2013; 5(3):a012914
• Maternal and Fetal Genetic Contributions to Postterm Birth: Familial Clustering in a Population-Based Sample of 475,429 Swedish Births - Anna S. Oberg et al. - Am. J. Epidemiol. (2013) 177(6): 531-537
• (De)Personalized Medicine - Horwitz et al. - Science 2013, 339(6124): 1155-1156.
• Long Noncoding RNAs: Past, Present, and Future - Kung et al. - Genetics 2013, 193(3): 651-669
• Proteome size as the major factor determining mutation rates - Massey SE. - PNAS 2013, 110(10): E858-E859 (Letter)
• Genetics professionals; perspectives on reporting incidental findings from clinical genome-wide sequencing - Lohn et al. - Am J Med Genet A 2013, 161(3): 542-549 (Free)
• Genetic variation may modify ovarian reserve in female childhood cancer survivors - van Dorp et al. - Hum. Reprod. (2013) 28(4): 1069-1076
• Cohort Profile: TwinsUK and Healthy Ageing Twin Study - Moayyeri et al. - Int. J. Epidemiol. (2013) 42(1): 76-85
• Cohort Profile: The Avon Longitudinal Study of Parents and Children: ALSPAC mothers cohort - Fraser et al. - Int. J. Epidemiol. (2013) 42(1): 97-110 (Free)
• Cohort Profile: The ‘Children of the 90s’—the index offspring of the Avon Longitudinal Study of Parents and Children - Andy Boyd et al. - Int. J. Epidemiol. (2013) 42(1): 111-127 (Free)
• Genome-wide scan of healthy human connectome discovers SPON1 gene variant influencing dementia severity - Jahanshad et al. - PNAS 2013 110 (12) 4768-4773
• The UCSC genome browser and associated tools - Kuhn et al. - Brief Bioinform (2013) 14(2): 144-161 (Free)
• Optogenetics and Translational Medicine - Chow and Boyden - Sci Transl Med 2013, 5(177): 177ps5
• A new way to protect privacy in large-scale genome-wide association studies - Liina Ramm et al. - Bioinformatics (2013) 29(7): 886-893 (Free)
• Loci influencing blood pressure identified using a cardiovascular gene-centric array - Ganesh et al. - Hum. Mol. Genet. (2013) 22(8): 1663-1678
• Cell - X-Inactivation, Imprinting, and Long Noncoding RNAs in Health and Disease - Lee and Bartolomei - Cell. 2013, 152(6): 1308-23.
• Personalized Medicine: Genetic Diagnosis for Inherited Cardiomyopathies/Channelopathies - Ackerman et al. - Rev Esp Cardiol. 2013 Feb 25 (Free)
• Practices and Policies of Clinical Exome Sequencing Providers: Analysis and Implications - Jamal et al. - Am J Med Genet (A), Article first published online: 5 APR 2013
• Genetic testing in cardiovascular medicine: current landscape and future horizons - Sturm AC, Hershberger RE. - Curr Opin Cardiol. 2013; 28(3): 317-25.

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• DYSMORPHOLOGY
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• The ciliary flow sensor and polycystic kidney disease - Fruzzina Kotsis et al. - Nephrol. Dial. Transplant. (2013) 28(3): 518-526 (Free)
• Maternal bereavement in the antenatal period and oral cleft in the offspring - Ingstrup et al. - Hum. Reprod. (2013) 28(4): 1092-1099
• Cleft lip and palate—epidemiology, aetiology and treatment (Frontiers of oral biology, Vol.16) (2012) Editor: Martyn T. Cobourne, Series Editor: P. T. Sharpe, Karger, Basel, Switzerland
• Cytoskeleton in action: Lissencephaly, a neuronal migration disorder - Moon HM, Wynshaw-Boris A. - Wiley Interdiscip Rev Dev Biol. 2013, 2(2): 229-245.
• Primary Ciliary Dyskinesia - Zariwala et al. - GeneReviews™
• Considering the vascular hypothesis for the pathogenesis of small intestinal atresia: A case control study of genetic factors - Gupta et al. - Am J Med Genet (A) 2013, 161(4): 702-710
• Preferential associated anomalies in 818 cases of microtia in South America - Luquetti et al. - Am J Med Genet (A), Article first published online: 29 Mar 2013
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• Molecular Dysmorphology
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• FOX gene cluster defects in alveolar capillary dysplasia associated with congenital heart disease - Daniela Laux et al. - Cardiol Young. 2013 Jan 21:1-8.
• Impaired surfactant protein B synthesis in infants with congenital diaphragmatic hernia - Paola E. Cogo et al. - Eur Respir J 2013, 41(3): 677-682
• Central nervous system abnormalities in patients with PMP22 gene mutations: a prospective study -- Chanson et al. - J Neurol Neurosurg Psychiatry 2013; 84(4): 392-397
• Spectrum of mutations that cause distal arthrogryposis types 1 and 2B - Beck et al. - Am J Med Genet A 2013, 161(3): 550-555
• Sporadic unilateral retinoblastoma or first sign of bilateral disease? -- Temming et al. - Br J Ophthalmol 2013; 97(4): 475-480
• A nonsense mutation in the gene ROR2 underlying autosomal dominant brachydactyly type B - Habib et al. - Clinical Dysmorphology 2013, 22(2): 47-50
• Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis - Coste et al. - PNAS 2013 110 (12) 4667-4672
• The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis - Dieterich et al. - Hum. Mol. Genet. (2013) 22(8): 1483-1492
• Cerebral cavernous malformations: from CCM genes to endothelial cell homeostasis - Fischer et al. - Trends Mol Med. 2013 Mar 15.
• Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia - Plaisancié et al. - Am J Med Genet (A) 2013, 161(4): 671-678
• The phenotypic spectrum of ZIC3 mutations includes isolated d-transposition of the great arteries and double outlet right ventricle - D'Alessandro et al. - Am J Med Genet (A) 2013, 161(4): 792-802
• Recurrent agnathia–otocephaly caused by DNA replication slippage in PRRX1 - Dasouki et al. - Am J Med Genet (A) 2013, 161(4): 803-808
• Allele-Specific Expression at the RET Locus in Blood and Gut Tissue of Individuals Carrying Risk Alleles for Hirschsprung Disease - Matera et al. - Human Mutation 2013, 34(5): 754-762
• Mutations in WNT1 Cause Different Forms of Bone Fragility - Katharina Keupp et al. - Am J Hum Genet. 2013, 92(4): 565-574

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• Epidemiology of the Birth Defects
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• Fraser syndrome: Epidemiological study in a European population - Barisic et al. - Am J Med Genet (A), Article first published online: 26 Mar 2013

• Pretibial linear vertical creases or indentations (shin dimples) associated with arthrogryposis - Judith G. Hall - Am J Med Genet (A) 2013, 161(4): 737-744

• The Salernitan school of medicine: Women, men, and children. A syndromological review of the oldest medical school in the western world - Matteo Della Monica et al. - Am J Med Genet (A) 2013, 161(4): 809-816

• Alpha Thalassemia/Mental Retardation Syndrome X-linked Gene Product ATRX Is Required for Proper Replication Restart and Cellular Resistance to Replication Stress - Leung et al. - J. Biol. Chem. 2013, 288(9): 6342-6350.
• Human-specific regulation of MeCP2 levels in fetal brains by microRNA miR-483-5p - Han et al. - Genes Dev. 2013 27(5): 485-490
• Fanconi anemia proteins interact with CtBP1 and modulate the expression of the Wnt antagonist Dickkopf-1 - Caroline C. Huard et al. - Blood 2013, 121(10): 1729-1739
• Variations in PROKR2, But Not PROK2, Are Associated With Hypopituitarism and Septo-optic Dysplasia - McCabe et al. - JCEM 2013, 98(3): E547-E557
• Two extraordinarily severe cases of Treacher Collins syndrome - Bauer et al. - Am J Med Genet A 2013, 161(3): 445-452
• A cost savings approach to SPRED1 mutational analysis in individuals at risk for neurofibromatosis type 1 - Muram et al. - Am J Med Genet A 2013, 161(3): 467-472
• Novel FREM1 mutations expand the phenotypic spectrum associated with manitoba-oculo-tricho-anal (MOTA) syndrome and bifid nose renal agenesis anorectal malformations (BNAR) syndrome - Nathanson et al. - Am J Med Genet A 2013, 161(3): 473-478
• Five novel mutations of GALNS in Korean patients with mucopolysaccharidosis IVA - Park et al. - Am J Med Genet A 2013, 161(3): 509-517
• Clinical consequences in truncating mutations in exon 34 of NOTCH2: Report of six patients with Hajdu–Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome - Narumi et al. - Am J Med Genet A 2013, 161(3): 518-526
• Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams–Beuren syndrome - Delio et al. - Am J Med Genet A 2013, 161(3): 527-533
• Clinical phenotype and the lack of mutations in the CHRNG, CHRND, and CHRNA1 genes in two Indian families with Escobar syndrome - Kodaganur et al. - Clinical Dysmorphology 2013, 22(2): 54–58
• Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6 - Sparrow et al. - Hum. Mol. Genet. (2013) 22(8): 1625-1631
• Functional analysis of a duplication (p.E63_D69dup) in the switch II region of HRAS: new aspects of the molecular pathogenesis underlying Costello syndrome - Sybille Lorenz et al. - Hum. Mol. Genet. (2013) 22(8): 1643-1653
• Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes - Twigg et al. - Hum. Mol. Genet. (2013) 22(8): 1654-1662 (Free)
• Nuclease Activity of the Human SAMHD1 Protein Implicated in the Aicardi-Goutières Syndrome and HIV-1 Restriction - Natalia Beloglazova et al. - J. Biol. Chem. 2013, 288(12): 8101-8110.
• The Ataxia Telangiectasia Mutated Kinase Pathway Regulates IL-23 Expression by Human Dendritic Cells - Wang et al. - J Immunol 2013, 190(7): 3246-3255
• Hutchinson-Gilford progeria syndrome through the lens of transcription - Prokocimer et al. - Aging Cell. 2013 Mar 15.
• Beckwith-Wiedemann and Silver-Russell syndromes: opposite developmental imbalances in imprinted regulators of placental function and embryonic growth - Jacob et al. - Clin Genet. 2013 Mar 15.
• Atypical Chédiak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative disease - Weisfeld-Adams et al. - Orphanet J Rare Dis. 2013; 8(1): 46 (Open Access)
• The Joubert Syndrome Associated Missense Mutation (V443D) in the Abelson-helper Integration Site 1 (AHI1) Protein Alters Its Localization and Protein-Protein Interactions - Karina Tuz et al. - J Biol Chem. 2013 Mar 26.
• Nijmegen breakage syndrome: The clearance pathway for mutant nibrin protein is allele specific - Salewsky et al. - Gene 2013, 519(2): 217–221
• A novel SOS1 mutation in Costello/CFC syndrome affects signaling in both RAS and PI3K pathways - Tumurkhuu et al. - J Recept Signal Transduct Res. 2013; 33(2): 124-8.
• A Novel Frameshift Mutation of the USH2A Gene in a Korean Patient with Usher Syndrome Type II - Boo et al. - Clin Exp Otorhinolaryngol. 2013; 6(1): 41-4 (Free)
• Deficiency in Origin Licensing Proteins Impairs Cilia Formation: Implications for the Aetiology of Meier-Gorlin Syndrome - Stiff et al. - PLoS Genet. 2013; 9(3): e1003360 (Free)
• Novel serine/threonine kinase 11 gene mutations in Peutz-Jeghers syndrome patients and endoscopic management - Yajima et al. - World J Gastrointest Endosc. 2013; 5(3): 102-10 (Free)
• Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics -- Wildhardt et al. - BMJ Open. 2013; 3(3). pii: e001917 (Free)
• A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease - Nikita et al. - Brain Dev. 2013 Mar 22.
• The MEF2C gene-microdeletion 5q14.3 dilemma and three axioms for molecular syndromology - Wilson et al. - Am J Med Genet A. 2013, 161(4): 916-7 (No Abstract)
• Fragile X AGG analysis provides new risk predictions for 45–69 repeat alleles - Nolin et al. - Am J Med Genet (A) 2013, 161(4): 771-778
• Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome - Khalifa et al. - Am J Med Genet (A) 2013, 161(4): 835-840
• De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome - Szakszon et al. - Am J Med Genet (A) 2013, 161(4): 884-888
• Exome Analysis in Clinical Practice: Expanding the Phenotype of Bartsocas–Papas Syndrome - Gripp et al. - Am J Med Genet (A), Article first published online: 29 Mar 2013
• The fibroblast growth factor receptor 2 p.Ala172Phe mutation in Pfeiffer syndrome—History repeating itself - Jay et al. - Am J Med Genet (A), Article first published online: 26 Mar 2013 (Free)
• Mosaic deletion of the NF1 gene in a patient with cognitive disability and dysmorphic features but without diagnostic features of NF1 - Tavares et al. - Am J Med Genet (A), Article first published online: 26 Mar 2013
• Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and Genotype–Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome - Handley et al. - Human Mutation 2013, 34(5): 686-696
• Combined NGS Approaches Identify Mutations in the Intraflagellar Transport Gene IFT140 in Skeletal Ciliopathies with Early Progressive Kidney Disease - Schmidts et al. - Human Mutation 2013, 34(5): 714-724 (Free)
• PGAP2 Mutations, Affecting the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation Syndrome - Krawitz et al. - Am J Hum Genet. 2013, 92(4): 584-589
• WNT1 Mutations in Families Affected by Moderately Severe and Progressive Recessive Osteogenesis Imperfecta - Pyott et al. - Am J Hum Genet. 2013, 92(4): 590-597
• Mutations in EOGT Confirm the Genetic Heterogeneity of Autosomal-Recessive Adams-Oliver Syndrome - Shaheen et al. - Am J Hum Genet. 2013, 92(4): 598-604
• Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease - Emma M. Jenkinson et al. - Am J Hum Genet. 2013, 92(4): 605-613
• Mutations in LARS2, Encoding Mitochondrial Leucyl-tRNA Synthetase, Lead to Premature Ovarian Failure and Hearing Loss in Perrault Syndrome - Pierce et al. - Am J Hum Genet. 2013, 92(4): 614-620
• Mutations in KCTD1 Cause Scalp-Ear-Nipple Syndrome - Marneros et al. - Am J Hum Genet 2013, 92(4): 621-626
• Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation - Ng et al. - Am J Hum Genet 2013, 92(4): 632-636
• X-linked CHARGE-like Abruzzo–Erickson syndrome and classic cleft palate with ankyloglossia result from TBX22 splicing mutations - Pauws et al. - Clinical Genetics 2013, 83(4): 352-358
• Large deletions and splicing-site mutations in the STK11 gene in Peutz-Jeghers Chilean families - Orellana et al. - Clinical Genetics 2013, 83(4): 365-369
• Craniofacial variations in the tricho-dento-osseous syndrome - Nguyen et al. - Clinical Genetics 2013, 83(4): 375-379

• Ataxia Telangiectasia Mutated (ATM) Is Dispensable for Endonuclease I-SceI-induced Homologous Recombination in Mouse Embryonic Stem Cells - Emilie Rass et al. - J. Biol. Chem. 2013, 288(10): 7086-7095.
• Phenylbutyrate Therapy for Pyruvate Dehydrogenase Complex Deficiency and Lactic Acidosis - Rosa Ferriero et al. - Sci Transl Med 2013, 5(175): 175ra31
• Prenatal peptide treatment appears promising in Down syndrome mouse model - Am J Med Genet A 2013, 161(3): ix (Free)
• Multiplex Genetic Fate Mapping Reveals a Novel Route of Neocortical Neurogenesis, Which Is Altered in the Ts65Dn Mouse Model of Down Syndrome - Tyler and Haydar - The Journal of Neuroscience 2013, 33(12): 5106-5119
• From shape to cells: mouse models reveal mechanisms altering palate development in Apert syndrome - Martinez-Abadias et al. - Dis Model Mech. 2013 Mar 8.

Minor Anomalies

SYNDROMOLOGY

Molecular Syndromology

Animal Models of Human Syndromes

CHROMOSOMAL ANOMALIES

• Gene Survival and Death on the Human Y Chromosome - Melissa A. Wilson Sayres and Kateryna D. Makova - Mol Biol Evol (2013) 30(4): 781-787
• Identification and molecular cytogenetic characterization of a novel complex Y chromosome rearrangement in a boy with disorder of sexual development - Dutta et al. - Gene 2013, 519(2): 374-380
• A highly specific coding system for structural chromosomal alterations - Martínez-Frías and Martínez-Fernández - Am J Med Genet (A), 2013, 732-736
• Pelizaeus–Merzbacher disease as a chromosomal disorder - Yamamoto et al. - Congenital Anomalies 2013, 53(1): 3-8 (Free)
• Karyotype Heterogeneity and Unclassified Chromosomal Abnormalities - Heng et al. - Cytogenet Genome Res. 2013: 144-157.

• Two Siblings With Similar Phenotypes. One of Them Had Ring 20 Chromosome - Tezer et al. - Clin EEG Neurosci 2013, 44(1): 58-61
• Contributions of a specialty clinic for children and adolescents with Down syndrome - Skotko et al. - Am J Med Genet A 2013, 161(3): 430-437
• Preconception folic acid supplementation and risk for chromosome 21 nondisjunction: A report from the National Down Syndrome Project - Hollis et al. - Am J Med Genet A 2013, 161(3): 438-4444
• Positive effects of short course androgen therapy on the neurodevelopmental outcome in boys with 47,XXY syndrome at 36 and 72 months of age - Samango-Sprouse et al. - Am J Med Genet A 2013, 161(3): 501-508
• Prevalence of ocular abnormalities in adults with Down syndrome in Hong Kong -- Fong et al. - Br J Ophthalmol 2013; 97(4): 423-428
• New therapies for treating Down syndrome require quality of life measurement - Goodman and Diana I. Brixner - Am J Med Genet (A) 2013, 164(4): 639-641
• Changes in mortality and causes of death in the Swedish Down syndrome population - Annika Englund et al. - Am J Med Genet (A) 2013, 161(4): 642-649
• Hospitalizations among people with Down syndrome: A nationwide population-based study in Denmark - Zhu et al. - Am J Med Genet (A) 2013, 161(4): 650-657
• Epilepsy in children with trisomy 18 - Kumada et al. - Am J Med Genet (A) 2013, 161(4): 696-701
• Down syndrome and personalized medicine: Changing paradigms from genotype to phenotype to treatment - McCabe et al. - Congenital Anomalies 2013, 53(1): 1-2 (Free)

• 8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients - Barber et al. - Am J Med Genet A 2013, 161(3): 487-500
• 22q11.2 Deletion Syndrome - Donna M. McDonald-McGann et al. - GeneReviews™
• Aspect of faulty brain development in 22q11 deletion syndrome shown - Am J Med Genet (A) 2013, 161(4): ix-x
• Haploinsufficiency of ZNF238 is associated with corpus callosum abnormalities in 1q44 deletions - Perlman et al. - Am J Med Genet (A) 2013, 161(4): 711-716
• Investigation of NRXN1 deletions: Clinical and molecular characterization - Dabell et al. - Am J Med Genet (A) 2013, 161(4): 717-731
• Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype - Burnside et al. - Am J Med Genet (A) 2013, 161(4): 822-828
• A mosaic 2q24.2 deletion narrows the critical region to a 0.4 Mb interval that includes TBR1, TANK, and PSMD14 - Burrage et al. - Am J Med Genet (A) 2013, 161(4): 841-844
• Co-occurrence of autism, childhood psychosis, and intellectual disability associated with a de novo 3q29 microdeletion - Sagar et al. - Am J Med Genet (A) 2013, 161(4): 845-849
• A cryptic microdeletion including MBD5 occurring within the breakpoint of a reciprocal translocation between chromosomes 2 and 5 in a patient with developmental delay and obesity - Shichiji et al. - Am J Med Genet (A) 2013, 161(4): 850-855
• Xq22.3–q23 deletion including ACSL4 in a patient with intellectual disability - Gazou et al. - Am J Med Genet (A) 2013, 161(4): 860-864
• A patient with de novo 0.45 Mb deletion of 2p16.1: The role of BCL11A, PAPOLG, REL, and FLJ16341 in the 2p15-p16.1 microdeletion syndrome - Hancarova et al. - Am J Med Genet (A) 2013, 161(4): 865-870
• Oculo-Auriculo-Vertebral Spectrum, Cat Eye, and Distal 22q11 Microdeletion Syndromes: A Unique Double Rearrangement - Torti et al. - Am J Med Genet (A), Article first published online: 29 Mar 2013
• Familial microdeletion of 17q24.3 upstream of SOX9 is associated with isolated Pierre Robin sequence due to position effect - Amarillo et al. - Am J Med Genet (A), Article first published online: 26 Mar 2013
• Patient with terminal 9 Mb deletion of chromosome 9p: Refining the critical region for 9p monosomy syndrome with trigonocephaly - Mitsui et al. - Congenital Anomalies 2013, 53(1): 49-53(Free)
• Identification of single gene deletions at 15q13.3: further evidence that CHRNA7 causes the 15q13.3 microdeletion syndrome phenotype - Hoppman-Chaney et al. - Clinical Genetics 2013, 83(4): 345-351

• Computed Tomography of the Anterior Skull Base in Kallmann Syndrome Reveals Specific Ethmoid Bone Abnormalities Associated With Olfactory Bulb Defects - Maione et al. - JCEM 2013, 98(3): E537-E546
• Hearing from parents: The impact of receiving the diagnosis of Williams syndrome in their child - Waxler et al. - Am J Med Genet A 2013, 161(3): 534-541 (Free)
• Alagille Syndrome - Nancy B. Spinner et al. - GeneReviews™
• Bardet-Biedl syndrome and subaortic membrane: co-occurrence of two rare conditions - Arik et al. - Turk Kardiyol Dern Ars. 2013; 41(1): 55-8 (Free)
• Discrimination training reduces high rate social approach behaviors in Angelman syndrome: Proof of principle - Heald et al. - Res Dev Disabil. 2013; 34(5): 1794-1803.
• Clinical, Radiological and Genetic Features in Blepharophimosis, Ptosis and Epicanthus Inversus Syndrome in the Indian population - Chawla et al. - Invest Ophthalmol Vis Sci. 2013 Mar 19.
• Coffin-Siris Syndrome - Samantha Schrier Vergano еt al. - GeneReviews™
• Congenital myasthenic syndromes: an update -- Finlayson et al. - Pract Neurol 2013; 13(2): 80-91
• Prevalence of diabetes and pre-diabetes in a cohort of Italian young adults with Williams syndrome - Masserini et al. - Am J Med Genet (A) 2013, 161(4): 817-821

• Aortic Valve Replacement for Aortic Stenosis Caused by Alkaptonuria -- Hiroyoshi et al. - Ann Thorac Surg 2013; 95(3): 1076-1079.
• Understanding Human Glycosylation Disorders: Biochemistry Leads the Charge - Hudson H. Freeze - J. Biol. Chem. 2013, 288(10): 6936-6945.
• Fabry nephropathy: indications for screening and guidance for diagnosis and treatment by the European Renal Best Practice - Terryn et al. - Nephrol. Dial. Transplant. (2013) 28(3): 505-517 (Free)
• Phenotypes, Investigation and Treatment of Primary IGF-1 Deficiency - Savage MO - Endocr Dev. 2013; 24:138-49.
• Niemann-Pick type C is frequent in adult ataxia with cognitive decline and vertical gaze palsy - Julia Schicks et al. - Neurology 2013, 80(12): 1169-1170
• Occurrence of tendon pathologies in metabolic disorders - Abate et al. - Rheumatology (2013) 52(4): 599-608
• Successful α1-antitrypsin replacement therapy in a patient with α1-antitrypsin deficiency and granulomatosis with polyangiitis - Perez et al. - Rheumatology (2013) 52(4): 755-757
• Causes of Death Due to Hematological and Non-Hematological Cancers in 57 US Patients with Type 1 Gaucher Disease Who Were Never Treated with Enzyme Replacement Therapy - Weinreb NJ and Lee RE. - Crit Rev Oncog. 2013; 18(3):177-95.
• Liver Transplantation for Lethal Genetic Syndromes: A Novel Model of Personalized Genomic Medicine - Pertrowsky et al. - J Am Coll Surg. 2013; 216(4): 534-43.
• Sitosterolemia - Samantha Schrier Vergano et al. - GeneReviews™
• Fumarate Hydratase Deficiency - Ewbank et al. - GeneReviews™
• Carnitine Palmitoyltransferase 1A Deficiency - Bennett and Santani - GeneReviews™
• Cutaneous dyspigmentation in patients with ganglioside GM3 synthase deficiency - Wang et al. - Am J Med Genet (A) 2013, 161(4): 875-879
• The Genetics of Sphingolipid Hydrolases and Sphingolipid Storage Diseases - Schuchman and Simonaro - Handb Exp Pharmacol. 2013; 215:3-32.
• Genetic basis of hyperlysinemia - Houten et al. - Orphanet Journal of Rare Diseases 2013, 8:57 (Open Access)
• Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase - Brands et al. - Orphanet Journal of Rare Diseases 2013, 8:51 (Open Access)

• Spinal neurofibromatosis associated with classical neurofibromatosis type 1: genetic characterisation of an atypical case -- Carman et al. - BMJ Case Reports Published 14 February 2013
• Zebra lines in osteogenesis imperfecta on bisphosphonate therapy -- Sukumar et al. - BMJ Case Reports Published 25 February 2013
• Somatic neurofibromatosis type 1 (NF1) inactivation characterizes NF1-associated pilocytic astrocytoma - Gutmann et al. - Genome Res. 2013, 23(3): 431-439
• An unusual case of E coli meningitis in a patient with Marfan's syndrome -- Kangath and Midturi - BMJ Case Reports Published 5 March 2013
• The Paradox of Prevention—Bilateral Atypical Subtrochanteric Fractures due to Bisphosphonates in Osteogenesis Imperfecta - Manolopoulos et al. - JCEM 2013, 98(3): 871-872
• Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria - Plotkin et al. - Am J Med Genet A 2013, 161(3): 405-416
• Hereditary hemorrhagic telangiectasia: How accurate are the clinical criteria? - van Gent et al. - Am J Med Genet A 2013, 161(3): 461-466
• Validation of a new multiple osteochondromas classification through Switching Neural Networks - Mordenti et al. - Am J Med Genet A 2013, 161(3): 556-560
• Alport Syndrome and Thin Basement Membrane Nephropathy - Kashtan CE - GeneReviews™
• Pseudoachondroplasia - Michael D Briggs and Michael J Wright - GeneReviews™
• Birt-Hogg-Dubé syndrome: a rare cause of cystic lung diseases -- Mohan Das et al. - BMJ Case Reports Published 20 March 2013
• Small is challenging; distal femur fracture management in an elderly lady with achondroplastic dwarfism -- Murphy et al. - BMJ Case Reports Published 20 March 2013
• Cleidocranial dysplasia: complete clinical, radiological and histological profiles -- Vij et al. - BMJ Case Reports Published 20 March 2013
• Hypomelanosis of Ito - Khaku et al. - Neurology 2013, 80(12): e130 (Teaching NeuroImages)
• Approaches to Treating NF1 Tibial Pseudarthrosis: Consensus From the Children’s Tumor Foundation NF1 Bone Abnormalities Consortium - Stevenson et al. - J Pediatr Orthop. 2013, 33(3): 269-275.
• Bloom's Syndrome - Maureen M Sanz and James German - GeneReviews™
• Nevoid Basal Cell Carcinoma Syndrome - Evans and Farndon - GeneReviews™
• Majeed Syndrome - Hatem El-Shanti and Polly Ferguson - GeneReviews™
• Young Australian adults with NF1 have poor access to health care, high complication rates, and limited disease knowledge - Oates et al. - Am J Med Genet (A)2013, 161(4): 659-666
• Neurofibromatosis type 2 in the elderly population: Clinical and molecular features - Goutagny et al. - Am J Med Genet (A) 2013, 161(4): 667-670
• Li-Fraumeni Syndrome - Katherine Schneider et al. - GeneReviews™
• Focal Dermal Hypoplasia - Satton and Van den Vyen - GeneReviews™
• GAPO syndrome: Four new patients with congenital glaucoma and myelinated retinal nerve fiber layer - Bozkurt et al. - Am J Med Genet (A) 2013, 161(4): 829-834
• Artery tortuosity syndrome exhibiting early-onset emphysema with novel compound heterozygous SLC2A10 mutations - Takahashi et al. - Am J Med Genet (A) 2013, 161(4): 856-859
• Marfan syndrome caused by a novel FBN1 mutation with associated pigmentary glaucoma - Kuchtey et al. - Am J Med Genet (A) 2013, 161(4): 880-883 (Free)
• Persistent hypertension despite successful dilation of a stenotic renal artery in a boy with neurofibromatosis type 1 - Ueda et al. - Am J Med Genet (A), Article first published online: 5 APR 2013
• Thoracic aortic aneurysm in infancy in aneurysms–osteoarthritis syndrome due to a novel SMAD3 mutation: Further delineation of the phenotype - Wischmeijer et al. - Am J Med Genet (A), Article first published online: 29 Mar 2013
• Longer term survival of a child with autosomal recessive cutis laxa due to a mutation in FBLN4 - Sawyer et al. - Am J Med Genet (A), Article first published online: 26 Mar 2013
• Clinical and molecular characterization of 40 patients with classic Ehlers--Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations - Ritelli et al. - Orphanet Journal of Rare Diseases 2013, 8:58 (Open Access)
• Differences between sporadic and MEN related primary hyperparathyroidism; clinical expression, preoperative workup, operative strategy and follow-up - Twigt et al. - Orphanet Journal of Rare Diseases 2013, 8:50 (Open Access)

• Talocalcaneal coalition in Muenke syndrome: Report of a patient, review of the literature in FGFR-related craniosynostoses, and consideration of mechanism - Agochukwu et al. - Am J Med Genet A 2013, 161(3): 453-460
• Oral-Facial-Digital Syndrome Type I - Helga V Toriello and Brunella Franco - GeneReviews™
• Dandy–Walker malformation with postaxial polydactly: a new case of Pierquin syndrome - Passalacqua et al. - Clinical Dysmorphology 2013, 22(2): 51-23
• Structural Pituitary Abnormalities Associated with CHARGE Syndrome - Gregory et al. - J Clin Endocrinol Metab. 2013 Mar 22.
• Smith Lemli-Opitz syndrome: a contribution to the delineation of a cognitive/behavioral phenotype - De Clemente et al. - Minerva Pediatr. 2013; 65(1): 61-69.
• Holt-Oram Syndrome - McDermott et al. - GeneReviews™
• Joubert Syndrome and Related Disorders - Melissa Parisi and Ian Glass - GeneReviews™

Chromosomal Disorders: Well-Known Syndromes

Microdeletion-Microduplication syndromes

CLINICAL SYNDROMOLOGY

Dysmetabolic Syndromes

Dyshistogenetic Syndromes

Malformation Syndromes

NEW SYNDROMES

• Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: Report of novel pathogenic copy number variants - D'Angelo et al. - Am J Med Genet A 2013, 161(3): 479-486
• Congenital metacarpal pseudoarthrosis, cleft palate, short stature, advanced bone age, and genu valgum: a new syndrome or a variant of Devriendt syndrome? - Ranganath and Dalal -Clinical Dysmorphology 2013, 22(2): 73-75 (No Abstract)
• Nevoid hypertrichosis, diffuse lipoatrophy and epidermal nevus: a new syndrome? - Bakhach et al. - Int J Dermatol. 2013 Mar 3. (No Abstract)
• A new syndrome mimicking Jaffe-Campanacci syndrome: a case report - Sevenkan et al. - Eklem Hastalik Cerrahisi. 2013; 24(1): 46-8 (Free - pdf)
• New Syndrome of Paraganglioma and Somatostatinoma Associated With Polycythemia - Pacak et al. - J Clin Oncol. 2013 Mar 18.

• Value of 3-Dimensional Sonography for Prenatal Diagnosis of Vertebral Formation Failure - Wei et al. - JUM 2013, 32(4): 595-607
• Diagnosis of Bardet-Biedl Syndrome in Consecutive Pregnancies Affected with Echogenic Kidneys and Polydactyly in a Consanguineous Couple - Baker et al. - Case Rep Genet. 2013; 2013: 159143 (Free)
• Prenatal diagnosis of ring chromosome 2 with lissencephaly and 2p25.3 and 2q37.3 microdeletions detected using array comparative genomic hybridization - Chen et al. - Gene. 2013; 519(1): 164-168.
• Prenatal presentation and diagnostic evaluation of suspected Smith–Lemli–Opitz (RSH) syndrome - Haas et al. - Am J Med Genet (A), Article first published online: 26 Mar 2013

PRENATAL SYNDROMOLOGY

TERATOLOGY

Clinical Teratology

• Facial Dysmorphism Across the Fetal Alcohol Spectrum - Suttie et al. - Pediatrics 2013; 131(3): e779-e788
• Maternal vitamin K deficient embryopathy: Association with hyperemesis gravidarum and Crohn disease - Toriello et al. - Am J Med Genet A 2013, 161(3): 417-429
• Recognition of the phenotype of thalidomide embryopathy in countries endemic for leprosy: new cases and review of the main dysmorphological findings - Vianna et al. - Clinical Dysmorphology 2013, 22(2): 59-63

• Ethical and Policy Issues in Genetic Testing and Screening of Children - Pediatrics 2013; 131(3): 620-622

GENETIC PREVENTION

Prenatal Screening

• ACOG approves new trisomy screen for high-risk pregnancies - 2013 - Am J Med Genet A 2013, 161(3): vii-ix (Free)
• Prenatal chromosomal microarray analysis: a survey of prenatal genetic counselors' experiences and attitudes - Mikhaelian et al. - Prenatal Diagnosis 2013, 33(4): 371-377

Genetic Testing

• Reproductive decision-making in young female carriers of a BRCA mutation - Donnelly et al. - Hum. Reprod. (2013) 28(4): 1006-1012

• Preimplantation Genetic Diagnosis in Genomic Regions with Duplications and Pseudogenes: Long-Range PCR in the Single-Cell Assay - Zeevi et al. - Human Mutation 2013, 34(5): 792-799

• Bilateral peripapillary serous retinal detachment in association with congenital optic disc pits -- Shafi et al. - BMJ Case Reports Published 15 February 2013
• Idiopathic Subglottic Stenosis: A Familial Predisposition -- Dumoulin et al. - Ann Thorac Surg 2013; 95(3): 1084-1086.
• Isolated double-orifice mitral valve: an extremely rare and interesting anomaly -- Agarwal et al. - BMJ Case Reports Published 7 March 2013
• Successful experimental treatment of congenital ichthyosis in an infant -- Deffenbacher B. - BMJ Case Reports Published 6 March 2013 -
• Non-syndromic multiple supernumerary teeth: report of a case with 13 supplemental teeth -- Ansari et al. - BMJ Case Reports Published 6 March 2013
• Periventricular heterotopias with incomplete agenesis of corpus callosum and prolonged focal seizures -- Herskovitz M. - Pract Neurol 2013; 13(2): 134-135
• Fetal Complete Common Atrioventricular Canal Defect - Adebo et al. - World Journal for Pediatric and Congenital Heart Surgery 2013, 4(2): 177-181
• Tetralogy of Fallot With Absent Pulmonary Valve Syndrome, Right Aortic Arch, and Disconnected Left Pulmonary Artery - Ruth Solana-Gracia et al. - World Journal for Pediatric and Congenital Heart Surgery 2013, 4(2): 206-209
• Retinoblastoma - Dietmar R Lohmann and Brenda L Gallie - GeneReviews™
• Hyalinosis, Inherited Systemic - Shieh et al. - GeneReviews™
• Congenital Fiber-Type Disproportion - Elizabeth Taylor DeChene et al. - GeneReviews™
• Familial severe congenital diaphragmatic hernia: Left herniation in one sibling and bilateral herniation in another - Nagase et al. - Congenital Anomalies 2013, 53(1): 54-57 (Free)

Preimplantation Diagnosis

Nonsyndromic Birth Defects