New Arab family with cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome suggests a possible founder effect for the c.223delG mutation. J Dermatol 42, 821-2 (2015).
A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex. Hum Mol Genet 23, 1602-5 (2014).
New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy. JAMA Ophthalmol 133, 133-9 (2015).
A new NBIA patient from Turkey with homozygous C19ORF12 mutation. Acta Neurol Belg 119, 623-625 (2019).
New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11. Hum Mol Genet 23, 5774-80 (2014).
New tools for Mendelian disease gene identification: PhenoDB variant analysis module; and GeneMatcher, a web-based tool for linking investigators with an interest in the same gene. Hum Mutat 36, 425-31 (2015).
Next generation analytic tools for large scale genetic epidemiology studies of complex diseases. Genet Epidemiol 36, 22-35 (2012).
NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy. Eur J Med Genet 58, 39-43 (2015).
Non-coding genetic variants in human disease. Hum Mol Genet 24, R102-10 (2015).
A noncoding variant in GANAB explains isolated polycystic liver disease (PCLD) in a large family. Hum Mutat 39, 378-382 (2018).
Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome. Am J Hum Genet 97, 691-707 (2015).
Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy. Hum Genet 135, 1161-74 (2016).
Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability. Hum Genet 137, 735-752 (2018).
A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes. Am J Med Genet A 179, 306-311 (2019).
Novel COL2A1 variant (c.619G>A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type. Hum Mutat 36, 1004-8 (2015).
Novel Deletion of SERPINF1 Causes Autosomal Recessive Osteogenesis Imperfecta Type VI in Two Brazilian Families. Mol Syndromol 5, 268-75 (2014).
Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment. BMC Med Genet 19, 122 (2018).
Novel genetic causes for cerebral visual impairment. Eur J Hum Genet 24, 660-5 (2016).
Novel Genetic Triggers and Genotype-Phenotype Correlations in Patients With Left Ventricular Noncompaction. Circ Cardiovasc Genet 10, (2017).
Novel Heterozygous Mutation in Is Associated With Early Onset CVID and a Functional Defect in NK Cells Complicated by Disseminated CMV Infection and Severe Nephrotic Syndrome. Front Pediatr 7, 303 (2019).
Novel homozygous ENPP1 mutation causes generalized arterial calcifications of infancy, thrombocytopenia, and cardiovascular and central nervous system syndrome. Am J Med Genet A 179, 2112-2118 (2019).
A novel homozygous variant in BMPR1B underlies acromesomelic dysplasia Hunter-Thompson type. Ann Hum Genet 82, 129-134 (2018).
A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families. J Eur Acad Dermatol Venereol 30, e210-e213 (2016).
A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction. Am J Med Genet A 173, 2246-2250 (2017).
Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis. Genet Med 18, 1158-1162 (2016).
Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis. Int J Dermatol 55, 524-30 (2016).
A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy. Eur J Hum Genet 26, 1294-1305 (2018).
Novel parent-of-origin-specific differentially methylated loci on chromosome 16. Clin Epigenetics 11, 60 (2019).
A novel pathogenic variant in a family with paroxysmal kinesigenic dyskinesia and benign familial infantile seizures. Cold Spring Harb Mol Case Stud 4, (2018).
Novel SPEG mutations in congenital myopathies: Genotype-phenotype correlations. Muscle Nerve 59, 357-362 (2019).
Novel STAT1 Gain-of-Function Mutation Presenting as Combined Immunodeficiency. J Clin Immunol 38, 753-756 (2018).
NR2F1 mutations cause optic atrophy with intellectual disability. Am J Hum Genet 94, 303-9 (2014).
Objective measures of sleep disturbances in children with Potocki-Lupski syndrome. Am J Med Genet A 179, 1982-1986 (2019).
Opsismodysplasia resulting from an insertion mutation in the SH2 domain, which destabilizes INPPL1. Am J Med Genet A 164A, 2407-11 (2014).
Oral therapy for riboflavin transporter deficiency - What is the regimen of choice?. Parkinsonism Relat Disord 61, 245-247 (2019).
Organic Solute Transporter Alpha Deficiency: A Disorder With Cholestasis, Liver Fibrosis, and Congenital Diarrhea. Hepatology 71, 1879-1882 (2020).
An Organismal CNV Mutator Phenotype Restricted to Early Human Development. Cell 168, 830-842.e7 (2017).
P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye. Hum Mol Genet 26, 2207-2217 (2017).
PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations. BMC Genomics 16, 214 (2015).
PADRE: Pedigree-Aware Distant-Relationship Estimation. Am J Hum Genet 99, 154-62 (2016).
Paralog Studies Augment Gene Discovery: DDX and DHX Genes. Am J Hum Genet 105, 302-316 (2019).
Parent of origin, mosaicism, and recurrence risk: probabilistic modeling explains the broken symmetry of transmission genetics. Am J Hum Genet 95, 345-59 (2014).
Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders. Am J Hum Genet 95, 173-82 (2014).
Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1-related syndrome. Am J Med Genet A 182, 1273-1277 (2020).
Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins. Hum Genet 135, 569-586 (2016).
Pathogenic Abnormal Splicing Due to Intronic Deletions that Induce Biophysical Space Constraint for Spliceosome Assembly. Am J Hum Genet 105, 573-587 (2019).
Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections. Clin Genet 89, 719-23 (2016).
Pathogenic Variants in GPC4 Cause Keipert Syndrome. Am J Hum Genet 104, 914-924 (2019).
Pathogenic Variants in NUP214 Cause "Plugged" Nuclear Pore Channels and Acute Febrile Encephalopathy. Am J Hum Genet 105, 48-64 (2019).