the art in humans. Reproduction 2017; 154(6):F93.215 215. Hibi H, Sumitomo M, Fukunaga N, et al. Superior clinical pregnancy rates after microsurgical epididymal sperm aspiration. Reprod Med Biol 2018; 17(1):59.
216 216. Decety J. Empathy in medicine: what it is, and how much we really need it. Am J Med 2020; 133:561.
217 217. Looi JCL. Empathy and competence. Med J Aust 2008; 188:414.
218 218. Eden OB, Black I, MacKinlay GA, et al. Communication with parents of children with cancer. Palliat Med 1994; 8:105.
219 219. Turner J, Biesecker B, Leib J, et al. Parenting children with Proteus syndrome: experiences with, and adaptation to, courtesy stigma. Am J Med Genet A 2007; 143A:2089.
220 220. Hojat M, Mangione S, Nasca TJ, et al. The Jefferson Scale of Physician Empathy: development and preliminary psychometric data. Educ Psychol Meas 2001; 61:349.
221 221. Lehmann A, Speight BS, Kerzin‐Storrar L. Extended family impact of genetic testing: the experiences of X‐linked carrier grandmothers. J Genet Couns 2011; 20:365.
222 222. James CA, Hadley DW, Holtzman NA, et al. How does the mode of inheritance of a genetic condition influence families? A study of guilt, blame, stigma and understanding of inheritance and reproductive risks in families with X‐linked and autosomal recessive diseases. Genet Med 2006; 8:234.
223 223. Targum SD. Psychotherapeutic considerations in genetic counseling. Am J Med Genet 1981; 8:281.
224 224. Kessler S, Kessler H, Ward P. Psychological aspects of genetic counseling. III. Management of guilt and shame. Am J Med Genet 1984; 17:673.
225 225. Hayden MR, Canadian Collaborative Study of Predictive Testing for HD. Predictive medicine for late onset disorders: the experience for Huntington disease. Am J Hum Genet 1991; 49:50.
226 226. Tibben A, Vegter‐van der Vlis M, Skraastad MI, et al. Presymptomatic DNA‐testing for Huntington disease in The Netherlands. Am J Hum Genet 1991; 49:316.
227 227. Craufurd D, Dodge A, Kerzin‐Storrar L, et al. Psychosocial impact of presymptomatic predictive testing for Huntington's disease. Am J Hum Genet 1991; 49:311.
228 228. Huggins M, Bloch M, Kanani S, et al. Ethical and legal dilemmas arising during predictive testing for adult‐onset disease: the experience of Huntington disease. Am J Hum Genet 1990; 47:4.
229 229. Folstein SE. Presymptomatic testing for Huntington's disease: outcome of 136 at‐risk persons who requested testing. Am J Hum Genet 1991; 49:62.
230 230. Wiggins S, Whyte P, Hayden M, et al. No harm, potential benefit: the one year follow‐up of participants in the Canadian Collaborative Study of Predictive Testing for Huntington's Disease. Am J Hum Genet 1991; 49:317.
231 231. Ravine D, Walker RG, Sheffield JL, et al. Experience of family screening for autosomal dominant polycystic kidney disease. Am J Hum Genet 1991; 49:50.
232 232. Baumiller RC, Comley S, Cunningham G, et al. Code of ethical principles for genetics professionals. Am J Med Genet 1996; 65:177.
233 233. Baumiller RC, Cunningham G, Fisher N, et al. Code of ethical principles for genetics professionals: an explication. Am J Med Genet 1996: 65:179.
234 234. Langfelder‐Schwind E, Kloza E, Sugerman E, et al. Cystic fibrosis prenatal screening in genetic counseling practice: recommendations of the National Society of Genetic Counselors. J Genet Couns 2005; 14:1.
235 235. Rantanen E, Hietala M, Kristoffersson U, et al. What is ideal genetic counseling? A survey of current international guidelines. Eur J Hum Genet 2008; 16:445.
236 236. Yang Y, Muzny DM, Xia F, et al. Molecular findings among patients referred for clinical whole‐exome sequencing. JAMA 2014; 312:1870.
237 237. Lee H, Deignan JL, Dorrani N, et al. Clinical exome sequencing for genetic identification of rare Mendelian disorders. JAMA 2014; 312:1880.
238 238. Tan TY, Dillon OJ, Stark Z, et al. Diagnostic impact and cost‐effectiveness of whole‐exome sequencing for ambulant children with suspected monogenic conditions. JAMA Pediatr 2017; 171:855.
239 239. Li R, Fu F, Yu Q, et al. Prenatal exome sequencing in fetuses with congenital heart defects. Clin Genet 2020; 98:215.
240 240. Sabbagh R, Van den Veyver IB. The current and future impact of genome‐wide sequencing on fetal precision medicine. Hum Genet 2020; 139:1121.
241 241. Nigro V, Savarese M. Genetic basis of limb‐girdle muscular dystrophies: the 2014 update. Acta Myol 2014; 33:1.
242 242. Thomas RH, Berkovic SF. The hidden genetics of epilepsy – a clinically important new paradigm. Nat Rev Neurol 2014; 10:283.
243 243. Armand T, Schaefer E, Di Rocco F, et al. Genetic bases of craniosynostoses: an update. Neurochirurgie 2019; 65(5):196.
244 244. Passos‐Bueno MR, Serti Eacute AE, Jehee FS, et al. Genetics of craniosynostosis: genes, syndromes, mutations and genotype‐phenotype correlations. Front Oral Biol 2008; 12:107.
245 245. Paumard‐Hernandez B, Berges‐Soria J, Barroso E. Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants. Eur J Hum Genet 2015; 23(7):907.
246 246. Jezela‐Stanek A, Krajewska‐Walasek M. Genetic causes of syndromic craniosynostoses. Eur J Paediatr Neurol 2013; 17:22.
247 247. Curatolo P, Bombardieri R, Jozwiak S. Tuberous sclerosis. Lancet 2008; 372:657.
248 248. Rossetti S, Harris PC. Genotype–phenotype correlations in autosomal dominant and autosomal recessive polycystic kidney disease. J Am Soc Nephrol 2007; 18:1374.
249 249. Bergmann C, Brüchle NO, Frank V, et al. Perinatal deaths in a family with autosomal dominant polycystic kidney disease and a PKD2 mutation. N Engl J Med 2008; 359:318.
250 250. Rasmussen SA, Mulinare J, Khoury MJ, et al. Evaluation of birth defect histories obtained through maternal interviews. Am J Hum Genet 1990; 46:478.
251 251. Haxton MJ, Bell J. Fetal anatomical abnormalities and other associated factors in middle‐trimester abortion and their relevance to patient counseling. Br J Obstet Gynaecol 1983; 90:501.
252 252. Harper PS. Myotonic dystrophy, 2nd edn. London: WB Saunders, 1989.
253 253. Bergoffen J, Kant J, Sladky J, et al. Paternal transmission of congenital myotonic dystrophy. J Med Genet 1994; 31:518.
254 254. Wieringa B. Myotonic dystrophy reviewed: back to the future? Hum Mol Genet 1994; 3:1.
255 255. Shelbourne P, Winqvist R, Kunert E, et al. Unstable DNA may be responsible for the incomplete penetrance of the myotonic dystrophy phenotype. Hum Mol Genet 1992; 1:467.
256 256. Brunner HG, Jansen G, Nillesen W, et al. Reverse mutation in myotonic dystrophy. N Engl J Med 1993; 328:476.
257 257. O'Hoy KL, Tsilfidis C, Mahadevan MS, et al. Reduction in size of the myotonic dystrophy trinucleotide repeat mutation during transmission. Science 1993; 259:809.
258 258. Brook JD. Retreat of the triplet repeat? Nat Genet 1993; 3:279.
259 259.
