1.
Oesophageal atresia: prevalence, prenatal diagnosis and associated anomalies in 23 European regions
by Pedersen, Rikke Neess
Archives of disease in childhood, 2012-03, Vol.97 (3), p.227-232
2.
MKS1 regulates ciliary INPP5E levels in Joubert syndrome
by Slaats, Gisela G Gisela G
Journal of medical genetics, 2015-10-21, Vol.53 (1), p.62-72
3.
Gómez–López-Hernández syndrome: reappraisal of the diagnostic criteria
by Sukhudyan, Biayna
European journal of pediatrics, 2010-07-23, Vol.169 (12), p.1523-1528
4.
CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions
by Butcher, Darci T
American journal of human genetics, 2017-05-04, Vol.100 (5), p.773-788
5.
ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013
by South, Sarah T.
Genetics in medicine, 2013-11, Vol.15 (11), p.901-909
6.
American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants
by Kearney, Hutton M.
Genetics in medicine, 2011-07, Vol.13 (7), p.680-685
7.
Mast cell activation syndrome: Proposed diagnostic criteria
by Akin, Cem, MD, PhD
Journal of allergy and clinical immunology, 2010, Vol.126 (6), p.1099-1104.e4
8.
The cardiofaciocutaneous syndrome
by Roberts, A
Journal of Medical Genetics, 2006-11, Vol.43 (11), p.833-842
9.
Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate
by Mangold, Elisabeth
American journal of human genetics, 2016-04-07, Vol.98 (4), p.755-762
10.
Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype–phenotype relationships and overlap with Costello syndrome
by Nava, Caroline
Journal of medical genetics, 2007-12, Vol.44 (12), p.763-771
11.
Loss-of-Function Mutations in TBC1D20 Cause Cataracts and Male Infertility in blind sterile Mice and Warburg Micro Syndrome in Humans
by Liegel, Ryan P
American journal of human genetics, 2013-12-05, Vol.93 (6), p.1001-1014
12.
Kagami-Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region
by Ogata, Tsutomu
Journal of human genetics, 2016-02, Vol.61 (2), p.87-94
13.
Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis
by Delle Vedove, Andrea
American journal of human genetics, 2016-11-03, Vol.99 (5), p.1206-1216
14.
A novel mutation in EED associated with overgrowth
by Cohen, Ana S A
Journal of human genetics, 2015-06, Vol.60 (6), p.339-342
15.
Frequency of anomalies and hospital outcomes in infants with gastroschisis and omphalocele
by Corey, Kristin M
Early human development, 2014, Vol.90 (8), p.421-424
16.
Kabuki syndrome: clinical and molecular diagnosis in the first year of life
by Dentici, Maria Lisa
Archives of disease in childhood, 2015-02, Vol.100 (2), p.158-164
17.
Recessive Mutations in ELOVL4 Cause Ichthyosis, Intellectual Disability, and Spastic Quadriplegia
by Aldahmesh, Mohammed A
American journal of human genetics, 2011-12-09, Vol.89 (6), p.745-750
18.
Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails
by Kariminejad, Ariana
Journal of human genetics, 2017, Vol.62 (4), p.465-471
19.
CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene
by Jongmans, M C J
Journal of medical genetics, 2006-04, Vol.43 (4), p.306-314
20.
Novel de novo mutation affecting two adjacent aminoacids in the EED gene in a patient with Weaver syndrome
by Smigiel, Robert
Journal of human genetics, 2018-04, Vol.63 (4), p.517-520
