| 36791574 | The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome. | Pediatr Neurol | 2023 |
| 38040034 | Neurological disease in xeroderma pigmentosum: prospective cohort study of its features and progression. | Brain | 2023 |
| 37256937 | PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production. | Sci Transl Med | 2023 |
| 37433783 | Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders. | Nat Commun | 2023 |
| 34590781 | Expanding on the phenotypic spectrum of Woodhouse-Sakati syndrome due to founder pathogenic variant in DCAF17: Report of 58 additional patients from Qatar and literature review. | Am J Med Genet A | 2022 |
| 36135330 | Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus. | Am J Med Genet A | 2022 |
| 33227433 | Growth charts in Cockayne syndrome type 1 and type 2. | Eur J Med Genet | 2021 |
| 33513338 | Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction. | Am J Hum Genet | 2021 |
| 33799280 | Generation of an iPSC line (CRICKi001-A) from an individual with a germline SMARCA4 missense mutation and autism spectrum disorder. | Stem Cell Res | 2021 |
| 34758253 | 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report. | N Engl J Med | 2021 |
| 34345025 | Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome. | Genet Med | 2021 |
| 31130376 | Recessive MYH7-related myopathy in two families. | Neuromuscul Disord | 2019 |
| 31646703 | Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity. | Hum Mutat | 2019 |
| 30201961 | Correction: Arterial tortuosity syndrome: 40 new families and literature review. | Genet Med | 2019 |
| 29323665 | Arterial tortuosity syndrome: 40 new families and literature review. | Genet Med | 2018 |
| 30104120 | Corrigendum to "Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome" [Epilepsy Res. 140 (2018) 166-170]. | Epilepsy Res | 2018 |
| 30323018 | Specific combinations of biallelic <i>POLR3A</i> variants cause Wiedemann-Rautenstrauch syndrome. | J Med Genet | 2018 |
| 29669177 | Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype. | J Bone Miner Res | 2018 |
| 29576327 | Parental mosaicism in RYR1-related Central Core Disease. | Neuromuscul Disord | 2018 |
| 29409041 | The Endocrine and Metabolic Characteristics of a Large Bardet-Biedl Syndrome Clinic Population. | J Clin Endocrinol Metab | 2018 |
| 29367179 | Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome. | Epilepsy Res | 2018 |
| 27659767 | Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome. | J Am Soc Nephrol | 2017 |
| 28447407 | Wiedemann-Rautenstrauch syndrome: A phenotype analysis. | Am J Med Genet A | 2017 |
| 28151491 | Clinical and molecular consequences of disease-associated de novo mutations in SATB2. | Genet Med | 2017 |
| 28886345 | RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes. | Am J Hum Genet | 2017 |
| 28855261 | Detection of structural mosaicism from targeted and whole-genome sequencing data. | Genome Res | 2017 |
| 28748650 | Autopsy findings in EPG5-related Vici syndrome with antenatal onset. | Am J Med Genet A | 2017 |
| 28521875 | Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL). | Metabolism | 2017 |
| 27841880 | The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. | Nat Genet | 2017 |
| 27075345 | Advances in Genetic Testing for Hereditary Cancer Syndromes. | Recent Results Cancer Res | 2016 |
| 27382027 | An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalities. | Sci Signal | 2016 |
| 26917586 | EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy. | Brain | 2016 |
| 26884178 | Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect. | Proc Natl Acad Sci U S A | 2016 |
| 26743599 | A Distinct Genotype of XP Complementation Group A: Surprisingly Mild Phenotype Highly Prevalent in Northern India/Pakistan/Afghanistan. | J Invest Dermatol | 2016 |
| 24611735 | Genetic predictors of cardiovascular morbidity in Bardet-Biedl syndrome. | Clin Genet | 2015 |
| 26079862 | De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability. | Am J Med Genet A | 2015 |
| 25894741 | Cost Effectiveness of Using Array-CGH for Diagnosing Learning Disability. | Appl Health Econ Health Policy | 2015 |
| 25893599 | Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita. | J Clin Invest | 2015 |
| 25424711 | Further delineation of the KAT6B molecular and phenotypic spectrum. | Eur J Hum Genet | 2015 |
| 23838600 | Clinical utility gene card for: Vici Syndrome. | Eur J Hum Genet | 2014 |
| 25125236 | Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism. | J Med Genet | 2014 |
| 24795849 | A new direction for prenatal chromosome microarray testing: software-targeting for detection of clinically significant chromosome imbalance without equivocal findings. | PeerJ | 2014 |
| 24403048 | Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance. | Hum Mol Genet | 2014 |
| 23320472 | MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study. | Clin Genet | 2013 |
| 23628358 | Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis. | Neuromuscul Disord | 2013 |
| 23387462 | Use of dermal filler to improve exposure keratopathy in a patient with restrictive dermopathy. | Orbit | 2013 |
| 23222957 | Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy. | Nat Genet | 2013 |
| 23354439 | Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis. | Nat Genet | 2013 |
| 22126750 | How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum. | Eur J Hum Genet | 2012 |
| 22832103 | Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. | Cell Rep | 2012 |