Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis. Am J Hum Genet 99, 337-51 (2016).
A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families. J Eur Acad Dermatol Venereol 30, e210-e213 (2016).
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction. Nat Genet 47, 528-34 (2015).
Mutations in CSPP1 lead to classical Joubert syndrome. Am J Hum Genet 94, 80-6 (2014).
Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy. Am J Hum Genet 95, 227-34 (2014).
Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability. Eur J Hum Genet 24, 1223-7 (2016).
Mutation of ATF6 causes autosomal recessive achromatopsia. Hum Genet 134, 941-50 (2015).
A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair. J Med Genet 52, 676-80 (2015).
ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. J Clin Invest 123, 5179-89 (2013).
GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK. Hum Mutat 36, 1009-14 (2015).
Using Whole Exome Sequencing to Identify Candidate Genes With Rare Variants In Nonsyndromic Cleft Lip and Palate. Genet Epidemiol 40, 432-41 (2016).
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. J Med Genet 52, 514-22 (2015).
KIAA0586 is Mutated in Joubert Syndrome. Hum Mutat 36, 831-5 (2015).
The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions. Am J Med Genet A 158A, 1523-5 (2012).
Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarray. Clin Exp Immunol 178, 459-69 (2014).
Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin. J Clin Invest 126, 762-78 (2016).
Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome. Am J Med Genet A 164A, 2328-34 (2014).
Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism. J Clin Endocrinol Metab 100, E808-14 (2015).
Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI. Am J Med Genet A 167A, 2132-7 (2015).
Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication. PLoS Genet 11, e1005050 (2015).
FBN1 contributing to familial congenital diaphragmatic hernia. Am J Med Genet A 167A, 831-6 (2015).
X-linked acrogigantism syndrome: clinical profile and therapeutic responses. Endocr Relat Cancer 22, 353-67 (2015).
Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. Genet Med 19, 412-420 (2017).
Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia. Am J Hum Genet 92, 137-43 (2013).
Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings. Am J Med Genet A 170A, 156-61 (2016).
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).
Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis. Am J Hum Genet 98, 579-87 (2016).
Informed consent for exome sequencing research in families with genetic disease: the emerging issue of incidental findings. Am J Med Genet A 164A, 2745-52 (2014).
Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. Am J Hum Genet 90, 925-33 (2012).
Collapsing glomerulopathy in a young woman with APOL1 risk alleles following acute parvovirus B19 infection: a case report investigation. BMC Nephrol 17, 125 (2016).
Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration. Proc Natl Acad Sci U S A 110, 3489-94 (2013).
Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstruction. Gastroenterology 148, 771-782.e11 (2015).
Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death. Mol Genet Genomic Med 4, 77-94 (2016).
Incidental copy-number variants identified by routine genome testing in a clinical population. Genet Med 15, 45-54 (2013).
Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles. Genome Res 23, 1383-94 (2013).
The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles. Am J Hum Genet 95, 143-61 (2014).
Novel genetic causes for cerebral visual impairment. Eur J Hum Genet 24, 660-5 (2016).
Cerebral visual impairment and intellectual disability caused by PGAP1 variants. Eur J Hum Genet 23, 1689-93 (2015).
NR2F1 mutations cause optic atrophy with intellectual disability. Am J Hum Genet 94, 303-9 (2014).
Exome analysis of a family with Wolff-Parkinson-White syndrome identifies a novel disease locus. Am J Med Genet A 167A, 2975-84 (2015).
International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases. Am J Hum Genet 100, 695-705 (2017).
Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia. J Invest Dermatol 135, 1540-7 (2015).
Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome. Hum Mol Genet 25, 348-57 (2016).
Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome. Nat Genet 48, 457-65 (2016).
Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity. Kidney Int 89, 468-75 (2016).
A germline ERBB3 variant is a candidate for predisposition to erythroid MDS/erythroleukemia. Leukemia 30, 2242-2245 (2016).
Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reports. Am J Med Genet A 170A, 1165-73 (2016).
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. Am J Hum Genet 97, 904-13 (2015).
Whole-exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum. Clin Genet 84, 394-5 (2013).