Instruct: Given the title of a scientific paper, retrieve paper titles that are cited by the given paper.
Query: Identifying the KAT6B Mutation via Diagnostic Exome Sequencing to Diagnose Say-Barber-Biesecker-Young-Simpson Syndrome in Three Generations of a Family
Further delineation of the KAT6B molecular and phenotypic spectrum
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies
A hot-spot mutation in CDC42 (p.Tyr64Cys) and novel phenotypes in the third patient with Takenouchi-Kosaki syndrome
A family with Townes-Brocks syndrome with congenital hypothyroidism and a novel mutation of the SALL1 gene
Familial 6p22.2 duplication associates with mild developmental delay and increased SSADH activity.
Rothmund–Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene
A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family
Exome sequencing reveals a high genetic heterogeneity on familial Hirschsprung disease
SATB2‐associated syndrome: Mechanisms, phenotype, and practical recommendations
Phenotype and genotype in Nicolaides-Baraitser syndrome.
Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders
The historical Coffin-Lowry syndrome family revisited: identification of two novel mutations of RPS6KA3 in three male patients.
New SMARCA2 mutation in a patient with Nicolaides–Baraitser syndrome and myoclonic astatic epilepsy
Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of theEP300gene
TGFBR1andTGFBR2mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome
A framework for the interpretation of de novo mutation in human disease
Mutation in ribosomal protein L21 underlies hereditary hypotrichosis simplex
Microarray-based mutation detection in thedystrophingene
Buschke-Ollendorff Syndrome: Absence of LEMD3 Mutation in an Affected Family
A Case of Thanatophoric Dysplasia Type 2: A Novel Mutation
N 400 amplitudes as change in a probabilistic representation of meaning : A neural network model
An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B.
A novel ZVT-ZCT PWM DC-DC converter
Hyperbolic Feature-based Sarcasm Detection in Tweets: A Machine Learning Approach
Computational ghost imaging using deep learning