Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing.
Tuğçe B BalcıT HartleyY XiD A DymentC L BeaulieuF P BernierL DupuisG A HorvathR Mendoza-LondonoC PrasadJ RicherX-R YangC M ArmourE BarekeB A FernandezH J McMillanR E LamontJ MajewskiJ S ParboosinghA N PrasadC A RuparJ SchwartzentruberA C SmithM Tétreaultnull nullnull nullA M InnesKym M BoycottPublished in: Clinical genetics (2017)
Our findings highlight the importance of comprehensive clinical phenotyping of family members to ultimately provide accurate genetic counseling.