Clinical Genetics

Cover image for Vol. 90 Issue 4

Edited By: Reiner A. Veitia

Impact Factor: 3.892

ISI Journal Citation Reports © Ranking: 2015: 42/165 (Genetics & Heredity)

Online ISSN: 1399-0004

Virtual Issues

Clinical Genetics Reviews

Preimplantation genetic diagnosis
Geraedts, JPM; De Wert, GMWR

Gene copy number variation and common human disease
Fanciulli, M; Petretto, E; Aitman, TJ

microRNAs in diseases: from candidate to modifier genes
Bandiera, S; Hatem, E; Lyonnet, S; et al.

Noncoding RNAs in mental retardation
Szulwach, KE; Jin, P; Alisch, RS

The genetics of antiplatelet drug resistance
Feher, G; Feher, A; Pusch, G; et al.

Direct-to-consumer genetic testing: good, bad or benign??
Caulfield, T; Ries, NM; Ray, PN; et al.

Genetic factors in non-syndromic congenital heart malformations
Wessels, MW; Willems, PJ

Inverted duplications deletions: underdiagnosed rearrangements??
Zuffardi, O; Bonaglia, M; Ciccone, R; et al.

Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications
Lynch, HT; Lynch, PM; Lanspa, SJ; et al.

Cornelia de Lange syndrome, cohesin, and beyond
Liu, J; Krantz, ID

Developmental Biology

Cystic kidney diseases and planar cell polarity signaling
Bacallao, RL; McNeill, H

Development and disease of the photoreceptor cilium
Ramamurthy, V; Cayouette, M

Plumbing in the embryo: developmental defects of the urinary tracts
Uetani, N; Bouchard, M

Claudins: unlocking the code to tight junction function during embryogenesis and in disease
Gupta, IR; Ryan, AK

Chromodomain proteins in development: lessons from CHARGE syndrome
Layman, WS; Hurd, EA; Martin, DM

Ciliary dysfunction and obesity
Mok, CA; Heon, E; Zhen, M

Hereditary hair loss and the ancient signaling pathways that regulate ectodermal appendage formation
Van Raamsdonk, CD

Recent advances in the genetics of distal hereditary motor neuropathy give insight to a disease mechanism involving copper homeostasis that may extend to other motor neuron disorders
Merner, ND; Dion, PA; Rouleau, GA

Hippocampus development and function: role of epigenetic factors and implications for cognitive disease
Lagali, PS; Corcoran, CP; Picketts, DJ

Social and Behavioral Research

Breast and ovarian cancer risk perception after prophylactic salpingo-oophorectomy due to an inherited mutation in the BRCA1 or BRCA2 gene
Finch, A; Metcalfe, K; Lui, J; et al.

Reproductive decision-making in the context of mitochondrial DNA disorders: views and experiences of professionals
Bredenoord, AL; Krumeich, A; De Vries, MC; et al.

Evaluation of a multi-disease carrier screening programme in Ashkenazi Jewish high schools
Ioannou, L; Massie, J; Lewis, S; et al.

Genetics professionals' experiences with grief and loss: implications for support and training
Geller, G; Rushton, CH; Francomano, C; et al.

Patient satisfaction and cancer-related distress among unselected Jewish women undergoing genetic testing for BRCA1 and BRCA2
Metcalfe, KA; Poll, A; Llacuachaqui, M; et al.

Valuing the benefit of diagnostic testing for genetic causes of idiopathic developmental disability: willingness to pay from families of affected children
Regier, DA; Friedman, JM; Makela, N; et al.