| American Journal of Medical Genetics Part A |
2005 |
Clinical and molecular characterization of the first adult congenital disorder of glycosylation (CDG) type Ic patient |
Pending |
| American Journal of Medical Genetics Part A |
2005 |
Reply to “Statin Drugs and Congenital Anomalies” by Gibb and Scialli |
Pending |
| American Journal of Medical Genetics Part A |
2005 |
The 22q11.2 deletion in African‐American patients: An underdiagnosed population? |
Pending |
| American Journal of Medical Genetics Part A |
2006 |
<i>FBN1</i>, <i>TGFBR1</i>, and the Marfan‐craniosynostosis/mental retardation disorders revisited |
Pending |
| American Journal of Medical Genetics Part A |
2008 |
Two new patients with Curry–Jones syndrome with trichoblastoma and medulloblastoma suggest an etiologic role of the sonic hedgehog‐patched‐GLI pathway |
Pending |
| American Journal of Medical Genetics Part A |
2008 |
Unique disease heritage of the Dutch‐German Mennonite population |
Pending |
| American Journal of Medical Genetics Part A |
2009 |
An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy |
Pending |
| American Journal of Medical Genetics Part A |
2009 |
Jumping translocation in a phenotypically normal male: A study of mosaicism in spermatozoa, lymphocytes, and fibroblasts |
Pending |
| American Journal of Medical Genetics Part A |
2010 |
Clinical and hematologic findings in Noonan syndrome patients with <i>PTPN11</i> gene mutations |
Pending |
| American Journal of Medical Genetics Part A |
2010 |
Late manifestations of tricho‐rhino‐pharangeal syndrome in a patient: Expanded skeletal phenotype in adulthood |
Pending |
| American Journal of Medical Genetics Part A |
2010 |
Phenotypic manifestations and management of hyperostosis cranialis interna, a hereditary bone dysplasia affecting the calvaria and the skull base |
Pending |
| American Journal of Medical Genetics Part A |
2010 |
Unilateral agenesis of the abdominal wall musculature: An early muscle deficiency |
Pending |
| American Journal of Medical Genetics Part A |
2011 |
A deleterious founder mutation in the <i>BMPER</i> gene causes diaphanospondylodysostosis (DSD) |
Pending |
| American Journal of Medical Genetics Part A |
2011 |
Chromosome 19p13.3 deletion in a patient with macrocephaly, obesity, mental retardation, and behavior problems |
Pending |
| American Journal of Medical Genetics Part A |
2011 |
Combined partial trisomy 11q and partial monosomy 10p in a 19‐year‐old female patient: Phenotypic and genotypic findings |
Pending |
| American Journal of Medical Genetics Part A |
2011 |
In memoriam: Ahmad S. Teebi, 1949–2010 |
Pending |
| American Journal of Medical Genetics Part A |
2013 |
Longer Term Survival of a Child With Autosomal Recessive Cutis Laxa Due to a Mutation in <i>FBLN4</i> |
Pending |
| American Journal of Medical Genetics Part A |
2013 |
Recurrent compartment syndrome in a patient with clinical features of a connective tissue disorder |
Pending |
| American Journal of Medical Genetics Part A |
2017 |
Severe rhizomelic shortening in a child with a complex duplication/deletion rearrangement of chromosome X |
Pending |
| American Journal of Medical Genetics Part A |
2018 |
Schuurs‐Hoeijmakers syndrome in two patients from Japan |
Pending |
| American Journal of Medical Genetics Part A |
2020 |
Behavioral phenotype of 49,XXXXY syndrome: Presence of anxiety‐related symptoms and intact social awareness |
Pending |
| American Journal of Medical Genetics Part A |
2020 |
Parenting stress in families of children with Prader–Willi syndrome |
Pending |
| American Journal of Medical Genetics Part A |
2021 |
<scp>SRD5A3‐CDG</scp>:<scp>3D</scp>structure modeling, clinical spectrum, and<scp>computer‐based</scp>dysmorphic facial recognition |
Pending |
| American Journal of Medical Genetics Part A |
2021 |
A nonsense variant in the second exon of the canonical transcript of <scp><i>NSD1</i></scp> does not cause Sotos syndrome |
Pending |
| American Journal of Medical Genetics Part A |
2022 |
Elements of morphology: Standard terminology for the trunk and limbs |
Pending |
| American Journal of Medical Genetics Part A |
2025 |
An Evaluation of the Impact of Genetic Counseling on Adherence to the 2011 American Academy of Pediatrics Health Supervision Guidelines for Children W |
Pending |
| American Journal of Medical Genetics Part B: Neuropsychiatric Genetics |
2006 |
Association of dopamine transporter genotype with disruptive behavior disorders in an eight‐year longitudinal study of children and adolescents |
Pending |
| American Journal of Medical Genetics Part B: Neuropsychiatric Genetics |
2008 |
Genome‐wide association scan of attention deficit hyperactivity disorder |
Pending |
| American Journal of Medical Genetics Part B: Neuropsychiatric Genetics |
2011 |
ADHD in Dutch adults: Heritability and linkage study |
Pending |
| American Journal of Medical Genetics Part B: Neuropsychiatric Genetics |
2020 |
Segregating patterns of copy number variations in extended autism spectrum disorder (<scp>ASD</scp>) pedigrees |
Pending |
| American Journal of Medical Genetics Part B: Neuropsychiatric Genetics |
2024 |
Genomics of severe and treatment‐resistant obsessive–compulsive disorder treated with deep brain stimulation: A preliminary investigation |
Pending |
| American Journal of Medical Genetics Part C: Seminars in Medical Genetics |
2009 |
Development, testing, and validation of a patient satisfaction questionnaire for use in the clinical genetics setting |
Pending |
| American Journal of Medical Genetics Part C: Seminars in Medical Genetics |
2015 |
<b>Psychopathological manifestations of joint hypermobility and joint hypermobility syndrome/ Ehlers–Danlos syndrome, hypermobility type:</b> The link |
Pending |
| American Journal of Medical Genetics Part C: Seminars in Medical Genetics |
2016 |
Adolescents and adults affected by Cornelia de Lange syndrome: A report of 73 Italian patients |
Pending |
| American Journal of Medical Genetics Part C: Seminars in Medical Genetics |
2020 |
Neuropsychological functions, sleep, and mental health in adults with Klinefelter syndrome |
Pending |
| American Journal of Medical Genetics Part C: Seminars in Medical Genetics |
2020 |
Phenotype–genotype analysis of 242 individuals with <scp>RASopathies</scp>: 18‐year experience of a tertiary center in Brazil |
Pending |
| Clinical Genetics |
1975 |
Plasma lipoprotein abnormalities in a case of primary high‐density‐lipoprotein (HDL) deficiency |
Pending |
| Clinical Genetics |
1975 |
Syndrome of epiphyseal dysplasia, short stature, microcephaly and nystagmus* |
Pending |
| Clinical Genetics |
1980 |
Sotos syndrome in two brothers |
Pending |
| Clinical Genetics |
1983 |
Clinical heterogeneity in a sibship with Niemann‐Pick disease type C |
Pending |
| Clinical Genetics |
1983 |
Mixed gonadal dysgenesis and sex chromosome mosaicism with multiple cell lines including structural aberrations of the Y chromosome |
Pending |
| Clinical Genetics |
1984 |
Medical Genetics: 1984. May 10–12, 1984, in Washington, DC |
Pending |
| Clinical Genetics |
1988 |
Evaluation of genetic counselling: recall of information, post‐counselling reproduction, and attitude of the counsellees |
Pending |
| Clinical Genetics |
1991 |
Annual Meeting of the European Society of Human Genetics |
Pending |
| Clinical Genetics |
1995 |
Mild cystic fibrosis disease in three Mexican delta‐F508/G551S compound heterozygous siblings |
Pending |
| Clinical Genetics |
1996 |
Medical Ethics:The right not to know—worthy of preservation any longer? An ethical perspective |
Pending |
| Clinical Genetics |
1997 |
Evaluation of an aspartame loading test for the detection of heterozygotes for classical phenylketonuria |
Pending |
| Clinical Genetics |
2001 |
A few more pieces of the DM puzzle |
Pending |
| Clinical Genetics |
2002 |
<i>FOXC2</i> truncating mutation in distichiasis, lymphedema, and cleft palate |
Pending |
| Clinical Genetics |
2002 |
<i>MECP2</i> mutations in Swedish Rett syndrome clusters |
Pending |
| Clinical Genetics |
2002 |
Pathogenesis of hereditary tumors: beyond the “two‐hit” hypothesis |
Pending |
| Clinical Genetics |
2003 |
Analysis of Sanfilippo A gene mutations in a large pedigree |
Pending |
| Clinical Genetics |
2003 |
Genetic analysis of males from intracytoplasmic sperm injection couples |
Pending |
| Clinical Genetics |
2003 |
Neurological presentation of Ehlers–Danlos syndrome type IV in a family with parental mosaicism |
Pending |
| Clinical Genetics |
2004 |
Familial iridogoniodysgenesis and skeletal anomalies: a probable new autosomal recessive disorder |
Pending |
| Clinical Genetics |
2004 |
Genotype‐phenotype studies in three families with mutations in the polyglutamine‐binding protein 1 gene (<i>PQBP1</i>) |
Pending |
| Clinical Genetics |
2007 |
Mutations in the familial Mediterranean fever gene of patients with IgA nephropathy and other forms of glomerulonephritis |
Pending |
| Clinical Genetics |
2011 |
Identification of two novel mutations in Shh long-range regulator associated with familial pre-axial polydactyly |
Pending |
| Clinical Genetics |
2013 |
<i><scp>RSK2</scp></i> mutation co‐segregates with X‐linked intellectual disability and attenuated Coffin–Lowry phenotype in a three‐generation family |
Pending |
| Clinical Genetics |
2013 |
Changes in screening behaviors and attitudes toward screening from pre‐test genetic counseling to post‐disclosure in Lynch syndrome families |
Pending |
| Clinical Genetics |
2013 |
Genetic and cellular basis of cerebral cavernous malformations: implications for clinical management |
Pending |
| Clinical Genetics |
2013 |
Molecular cytogenetics: recent developments and applications in cancer |
Pending |
| Clinical Genetics |
2013 |
Telomere shortening by mutations in the <i><scp>RTEL1</scp></i> helicase cause severe form of dyskeratosis congenita, Hoyerall‐Hreidarsson syndrome |
Pending |
| Clinical Genetics |
2014 |
A comprehensive search for mutations in the <i><scp>PKD1</scp></i> and <i><scp>PKD2</scp></i> in Japanese subjects with autosomal dominant polycystic |
Pending |
| Clinical Genetics |
2014 |
Excessively redundant umbilical skin as a potential early clinical feature of Morquio syndrome and <i><scp>FKBP14</scp></i>‐related Ehlers–Danlos synd |
Pending |
| Clinical Genetics |
2022 |
<i>FGF9</i> variant in 46,<scp>XY DSD</scp> patient suggests a role for dimerization in sex determination |
Pending |
| Clinical Genetics |
2023 |
A homozygous frameshift variant expands the clinical spectrum of <i>SAMD9</i> gene defects |
Pending |
| Clinical Genetics |
2023 |
A novel homozygous missense variant in <i>TBC1D31</i> in a consanguineous family with congenital anomalies of the kidney and urinary tract (<scp>CAKUT |
Pending |
| Clinical Genetics |
2024 |
Genome‐wide association study of cardiometabolic multimorbidity in the <scp>UK</scp> Biobank |
Pending |
| European Journal of Human Genetics |
2001 |
Evidence from skewed X inactivation for trisomy mosaicism in Silver-Russell syndrome |
Pending |
| European Journal of Human Genetics |
2007 |
FGFR2, FGF8, FGF10 and BMP7 as candidate genes for hypospadias |
Pending |
| European Journal of Human Genetics |
2008 |
The human pseudoautosomal regions: a review for genetic epidemiologists |
Pending |
| European Journal of Human Genetics |
2009 |
Legacy of mutiny on the Bounty: founder effect and admixture on Norfolk Island |
Pending |
| European Journal of Human Genetics |
2012 |
Stronger signal of recent selection for lactase persistence in Maasai than in Europeans |
Pending |
| European Journal of Human Genetics |
2013 |
Clinical utility gene card for: Gorlin Syndrome - update 2013 |
Pending |
| European Journal of Human Genetics |
2014 |
Clinical Utility Gene Card for: Familial adenomatous polyposis (FAP) and attenuated FAP (AFAP) - update 2014 |
Pending |
| European Journal of Human Genetics |
2014 |
Dietary fat quality impacts genome-wide DNA methylation patterns in a cross-sectional study of Greek preadolescents |
Pending |
| European Journal of Human Genetics |
2017 |
The creation of the International Federation of Human Genetics Societies in 1995–1996 |
Pending |
| European Journal of Human Genetics |
2018 |
Abstracts from the 50th European Society of Human Genetics Conference: Posters |
Pending |
| European Journal of Human Genetics |
2018 |
Diagnostic challenges in a child with early onset desmoplastic medulloblastoma and homozygous variants in MSH2 and MSH6 |
Pending |
| European Journal of Human Genetics |
2020 |
Smith–Lemli–Opitz syndrome: what is the actual risk for couples carriers of the DHCR7:c.964-1G>C variant? |
Pending |
| European Journal of Human Genetics |
2021 |
Evidence of mosaicism in SPAST variant carriers in four French families |
Pending |
| European Journal of Human Genetics |
2023 |
Correction: Genome-wide meta-analysis identifies novel loci conferring risk of acne vulgaris |
Pending |
| European Journal of Human Genetics |
2023 |
Elusive variants in autosomal recessive disease: how can we improve timely diagnosis? |
Pending |
| Genetic Epidemiology |
1993 |
Genotype at a major locus with large effects on apolipoprotein B levels predicts familial combined hyperlipidemia |
Pending |
| Genetic Epidemiology |
1993 |
Risk factors for atherosclerosis in twins |
Pending |
| Genetic Epidemiology |
1998 |
Modelling the major histocompatibility complex susceptibility to RA using the MASC method |
Pending |
| Genetic Epidemiology |
2001 |
Linkage Analysis of Quantitative Traits in Randomly Ascertained Pedigrees: Comparison of Penetrance‐Based and Variance Component Analysis |
Pending |
| Genetic Epidemiology |
2007 |
Powerful designs for genetic association studies that consider twins and sibling pairs with discordant genotypes |
Pending |
| Genetic Epidemiology |
2012 |
Power of IRT in GWAS: Successful QTL Mapping of Sum Score Phenotypes Depends on Interplay Between Risk Allele Frequency, Variance Explained by the Ris |
Pending |
| Genetic Epidemiology |
2019 |
Gene‐based association analysis of survival traits via functional regression‐based mixed effect cox models for related samples |
Pending |
| Genetic Epidemiology |
2024 |
Shared genetic risk between major orofacial cleft phenotypes in an African population |
Pending |
| Genetics in Medicine |
1999 |
The reason of non-specific background of methodologies for random mutation identification: X-structures formation in purified PCR products solutions |
Pending |
| Genetics in Medicine |
1999 |
session listings |
Pending |
| Genetics in Medicine |
2003 |
Can mucopolysaccharidosis type I disease severity be predicted based on a patient’s genotype? A comprehensive review of the literature |
Pending |
| Genetics in Medicine |
2008 |
The use of role-play to enhance medical student understanding of genetic counseling |
Pending |
| Genetics in Medicine |
2011 |
Committee report: Considerations and recommendations for national guidance regarding the retention and use of residual dried blood spot specimens afte |
Pending |
| Genetics in Medicine |
2014 |
Neonatal hypocalcemia, neonatal seizures, and intellectual disability in 22q11.2 deletion syndrome |
Pending |
| Genetics in Medicine |
2015 |
Returning pharmacogenetic secondary findings from genome sequencing: let’s not put the cart before the horse |
Pending |
| Genetics in Medicine |
2015 |
Two specific mutations are prevalent causes of recessive retinitis pigmentosa in North American patients of Jewish ancestry |
Pending |
| Genetics in Medicine |
2019 |
Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield |
Pending |
| Genetics in Medicine |
2021 |
Residual risk for additional recessive diseases in consanguineous couples |
Pending |
| Genetics in Medicine |
2022 |
OP021: Vosoritide for children with achondroplasia: Growth velocity and pubertal milestones |
Pending |
| Genetics in Medicine |
2022 |
eP099: Wiedemann-Rautenstrauch syndrome- New pathways for an old disease |
Pending |
| Genetics in Medicine |
2024 |
Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormaliti |
Pending |
| Heredity |
1952 |
Blood groups, anthropology and language in wales and the western countries |
Pending |
| Heredity |
1960 |
Heterosis and the inheritance of yield in the tomato |
Pending |
| Heredity |
1966 |
Ecological bacteriology of the meadow brown butterfly |
Pending |
| Heredity |
1971 |
The effects of B chromosomes on the nuclear phenotype in root meristems of maize |
Pending |
| Heredity |
1974 |
Statistical appendix |
Pending |
| Heredity |
1977 |
Variation in characters affecting fitness between radiate and non-radiate morphs in natural populations of groundsel (Senecio vulgaris L.) |
Pending |
| Heredity |
1982 |
A critical evaluation of the case for competitive selection in Cepaea |
Pending |
| Heredity |
1984 |
Book Reviews |
Pending |
| Heredity |
1984 |
Book Reviews |
Pending |
| Heredity |
1984 |
Book Reviews |
Pending |
| Heredity |
1984 |
Book Reviews |
Pending |
| Heredity |
1984 |
Book Reviews |
Pending |
| Heredity |
1984 |
Book Reviews |
Pending |
| Heredity |
1984 |
C-Heterochromatin content of supernumerary chromosome segments of grasshoppers: Detection of an euchromatic extra segment |
Pending |
| Heredity |
1985 |
A spontaneous interchange heterozygote mosaic in the grasshopper Stauroderus scalaris: interchromosomal chiasma effects |
Pending |
| Heredity |
1988 |
The alcohol dehydrogenase polymorphism of Drosophila melanogaster in relation to environmental ethanol, ethanol tolerance and alcohol dehydrogenase ac |
Pending |
| Heredity |
1990 |
Antagonistic pleiotropy and the evolution of wing dimorphism in the sand cricket, Gryllus firmus |
Pending |
| Heredity |
1993 |
Estimation of the outcrossing rate in the chestnut blight fungus, Cryphonectria parasitica |
Pending |
| Heredity |
1995 |
Genetic variation in Phoca vitulina (the harbour seal) revealed by DNA fingerprinting and RAPDs |
Pending |
| Heredity |
1999 |
Mapping quantitative trait loci for complex binary traits in outbred populations |
Pending |
| Heredity |
2000 |
Simulating Ecological and Evolutionary Systems in C |
Pending |
| Heredity |
2002 |
Genetic variation in the vulnerable and endemic Monkey Puzzle tree, detected using RAPDs |
Pending |
| Heredity |
2002 |
Size-class differences in genetic structure and individual distribution of Camellia japonica L. in a Japanese old-growth evergreen forest |
Pending |
| Heredity |
2008 |
Quantitative trait loci determining autogeny and body size in the Asian tiger mosquito (Aedes albopictus) |
Pending |
| Heredity |
2012 |
Genetic interactions controlling sex and color establish the potential for sexual conflict in Lake Malawi cichlid fishes |
Pending |
| Heredity |
2012 |
Male offspring production by asexual Potamopyrgus antipodarum, a New Zealand snail |
Pending |
| Heredity |
2013 |
Antennapedia is involved in the development of thoracic legs and segmentation in the silkworm, Bombyx mori |
Pending |
| Heredity |
2015 |
Bias in the heritability of preference and its potential impact on the evolution of mate choice |
Pending |
| Heredity |
2017 |
Assessing the expected response to genomic selection of individuals and families in Eucalyptus breeding with an additive-dominant model |
Pending |
| Heredity |
2018 |
A Wolbachia infection from Drosophila that causes cytoplasmic incompatibility despite low prevalence and densities in males |
Pending |
| Heredity |
2019 |
Correction to: The role of hybridisation in the origin and evolutionary persistence of vertebrate parthenogens: a case study of Darevskia lizards |
Pending |
| Heredity |
2022 |
QTL-seq for the identification of candidate genes for days to flowering and leaf shape in pigeonpea |
Pending |
| Human Genetics |
1970 |
Polymorphism of the red cell acid phosphatase in the Swiss population |
Pending |
| Human Genetics |
1978 |
Structural aberrations of the X chromosome in man |
Pending |
| Human Genetics |
1980 |
Arrangement of chromosomes in the interphase nucleus of plants |
Pending |
| Human Genetics |
1982 |
Aspects of evaluation, significance, and evolution of human C-band heteromorphism |
Pending |
| Human Genetics |
1983 |
Complementation studies between Fanconi's anemia cells with different DNA repair characteristics |
Pending |
| Human Genetics |
1985 |
A distinct dysmorphic syndrome with spinocerebellar ataxia and probable autosomal recessive inheritance |
Pending |
| Human Genetics |
1989 |
Heterogeneity of chromosomal breakage levels in epithelial tissue of ataxia-telangiectasia homozygotes and heterozygotes |
Pending |
| Human Genetics |
1989 |
Is there a correlation between morphological and cytogenetic findings in placental tissue from early missed abortions? |
Pending |
| Human Genetics |
1989 |
The gene coding for the p68 calcium-binding protein is localised to bands q32?q34 of human chromosome 5, and to mouse chromosome 11 |
Pending |
| Human Genetics |
1991 |
Comparative mapping of ZFY in the hominoid apes |
Pending |
| Human Genetics |
1992 |
Microdeletions in interval 6 of the Y chromosome of males with idiopathic sterility point to disruption of AZF, a human spermatogenesis gene |
Pending |
| Human Genetics |
1994 |
A new complex polymorphic repeat close to the HLA-A and HLA-E loci |
Pending |
| Human Genetics |
1995 |
Lack of a BglII site at the 5? region of the PGK 1 locus: a new variant discovered in two Chibchan Amerindian groups from Costa Rica |
Pending |
| Human Genetics |
1996 |
An additional allelic variant of the CYP2D6 gene causing impaired metabolism of sparteine |
Pending |
| Human Genetics |
1996 |
An additional allelic variant of the CYP2D6 gene causing impaired metabolism of sparteine |
Pending |
| Human Genetics |
1996 |
Cockayne syndrome complementation group B associated with xeroderma pigmentosum phenotype |
Pending |
| Human Genetics |
1996 |
Extensive polymorphism of ABO blood group gene: three major lineages of the alleles for the common ABO phenotypes |
Pending |
| Human Genetics |
1996 |
Extensive polymorphism of ABO blood group gene: three major lineages of the alleles for the common ABO phenotypes |
Pending |
| Human Genetics |
1997 |
Isolation of a human gene (HES1) with homology to an Escherichia coli and a zebrafish protein that maps to chromosome 21q22.3 |
Pending |
| Human Genetics |
1997 |
Molecular basis of the apolipoprotein H (β 2 -glycoprotein I) protein polymorphism |
Pending |
| Human Genetics |
2002 |
Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness |
Pending |
| Human Genetics |
2002 |
Relaxation of imprinted expression of ZAC and HYMAI in a patient with transient neonatal diabetes mellitus |
Pending |
| Human Genetics |
2004 |
Confirmation of chromosome 7q11 locus for predisposition to intracranial aneurysm |
Pending |
| Human Genetics |
2006 |
Clinical and molecular genetic features of ARC syndrome |
Pending |
| Human Genetics |
2009 |
Terence J. Bazzett: An introduction to behavior genetics |
Pending |
| Human Genetics |
2010 |
Erratum to: Novel mutations in the connexin43 (GJA1) and GJA1 pseudogene may contribute to nonsyndromic hearing loss |
Pending |
| Human Genetics |
2010 |
Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly |
Pending |
| Human Genetics |
2010 |
Identification and experimental validation of G protein alpha inhibiting activity polypeptide 2 (GNAI2) as a microRNA-138 target in tongue squamous ce |
Pending |
| Human Genetics |
2010 |
Michal Janitz (ed.) (2008): Next-Generation Genome Sequencing |
Pending |
| Human Genetics |
2013 |
Responses to booster hepatitis B vaccination are significantly correlated with genotypes of human leukocyte antigen (HLA)-DPB1 in neonatally vaccinate |
Pending |
| Human Genetics |
2020 |
Evidence for craniofacial enhancer variation underlying nonsyndromic cleft lip and palate |
Pending |
| Human Genetics and Genomics Advances |
2022 |
Framing the utility and potential pitfalls of relationship and identity DNA testing across United States immigration contexts |
Pending |
| Human Genetics and Genomics Advances |
2024 |
Liver regulatory mechanisms of noncoding variants at lipid and metabolic trait loci |
Pending |
| Human Genomics |
2011 |
Role of CYP2E1 genotypes in susceptibility to colorectal cancer in the Kashmiri population |
Pending |
| Human Genomics |
2016 |
Exploring the interaction among EPHX1, GSTP1, SERPINE2, and TGFB1 contributing to the quantitative traits of chronic obstructive pulmonary disease in |
Pending |
| Human Genomics |
2018 |
A new bioinformatics tool to help assess the significance of BRCA1 variants |
Pending |
| Human Genomics |
2019 |
Genetics and functions of the retinoic acid pathway, with special emphasis on the eye |
Pending |
| Human Genomics |
2021 |
Genetic and molecular biology of autism spectrum disorder among Middle East population: a review |
Pending |
| Human Genomics |
2024 |
Deep learning-based pathway-centric approach to characterize recurrent hepatocellular carcinoma after liver transplantation |
Pending |
| Human Mutation |
1992 |
Screening for new mutations in the LDL receptor gene in seven French familial hypercholesterolemia families by the single strand conformation polymorp |
Pending |
| Human Mutation |
1993 |
Mutational studies in a patient with the hydrops fetalis form of mucopolysaccharidosis type VII |
Pending |
| Human Mutation |
1994 |
DNA mutational analysis of type 1 and type 3 gaucher patients: How well do mutations predict phenotype? |
Pending |
| Human Mutation |
1994 |
Non-phenylketonuria hyperphenylalaninaemia in Northern Ireland: Frequent mutation allows screening and early diagnosis |
Pending |
| Human Mutation |
1996 |
Neurofibromatosis type I gene mutation in a patient with features of LEOPARD syndrome |
Pending |
| Human Mutation |
1996 |
Neurofibromatosis type I gene mutation in a patient with features of LEOPARD syndrome |
Pending |
| Human Mutation |
1997 |
Tay‐Sachs disease‐causing mutations and neutral polymorphisms in the Hex A gene |
Pending |
| Human Mutation |
1998 |
Five families with arginine519-cysteine mutation in COL2A1: Evidence for three distinct founders |
Pending |
| Human Mutation |
1999 |
A novel missense mutation Ile193Val in cholesteryl ester transfer protein gene |
Pending |
| Human Mutation |
1999 |
Mutation analysis in adenylosuccinate lyase deficiency: Eight novel mutations in the re-evaluated full ADSL coding sequence |
Pending |
| Human Mutation |
1999 |
Reliable and sensitive detection of premature termination mutations using a protein truncation test designed to overcome problems of nonsense-mediated |
Pending |
| Human Mutation |
1999 |
Reliable and sensitive detection of premature termination mutations using a protein truncation test designed to overcome problems of nonsense-mediated |
Pending |
| Human Mutation |
2003 |
Haplotype analysis of the<i>BRCA2</i>9254delATCAT recurrent mutation in breast/ovarian cancer families from Spain |
Pending |
| Human Mutation |
2005 |
Evaluation of the molecular mechanisms involved in the gain of function of a Li-FraumeniTP53 Mutation |
Pending |
| Human Mutation |
2011 |
Functional analysis reveals splicing mutations of the CASQ2 gene in patients with CPVT: implication for genetic counselling and clinical management |
Pending |
| Human Mutation |
2014 |
Functional Characterization and Classification of Frequent Low-Density Lipoprotein Receptor Variants |
Pending |
| Human Mutation |
2014 |
Mutants TP53 p.R273H and p.R273C but not p.R273G Enhance Cancer Cell Malignancy |
Pending |
| Human Mutation |
2024 |
Exonic Deletions and Deep Intronic Variants of the <i>SLC26A4</i> Gene Contribute to the Genetic Diagnosis of Unsolved Patients With Enlarged Vestibul |
Pending |
| Journal of Community Genetics |
2018 |
New literacy challenge for the twenty-first century: genetic knowledge is poor even among well educated |
Pending |
| Journal of Community Genetics |
2018 |
Risk perception and screening behavior of Filipino women at risk for breast cancer: implications for cancer genetic counseling |
Pending |
| Journal of Genetic Counseling |
1995 |
Embryo genetic disorder analysis demonstration project: A model protocol |
Pending |
| Journal of Genetic Counseling |
2011 |
Changing My Perspective: What My Husband's Cancer Taught Me About Being a Genetic Counselor |
Pending |
| Journal of Genetic Counseling |
2014 |
Attitudes Towards Potentially Carrying the FMR1 Premutation: Before vs After Testing of Non‐Carrier Females with Diminished Ovarian Reserve |
Pending |
| Journal of Genetic Counseling |
2014 |
“Is it Going to Hurt?”: The Impact of the Diagnostic Odyssey on Children and Their Families |
Pending |
| Journal of Genetic Counseling |
2017 |
A Qualitative Study to Explore the Views and Attitudes towards Prenatal Testing in Adults Who Have Muenke Syndrome and their Partners |
Pending |
| Journal of Genetic Counseling |
2020 |
Characterizing standardized patients and genetic counseling graduate education |
Pending |
| Journal of Genetic Counseling |
2021 |
Following NCCN guidelines within one hospital system in the United States: Comparison between cancer centers and genetic counselor utilization |
Pending |
| Journal of Genetic Counseling |
2023 |
Epilepsy panel testing criteria: A clinical assessment |
Pending |
| Journal of Medical Genetics |
1967 |
Haemoglobin J Tongariki (alpha-115 alanine--aspartic acid): the first new haemoglobin variant found in a Pacific (Melanesian) population. |
Pending |
| Journal of Medical Genetics |
1968 |
Mental retardation in a child with a long B-group chromosome. |
Pending |
| Journal of Medical Genetics |
1971 |
The Post-natal Development of Phenotype |
Pending |
| Journal of Medical Genetics |
1977 |
A further example of human blood group chimaerism. |
Pending |
| Journal of Medical Genetics |
1980 |
Cause of neural tube defects. |
Pending |
| Journal of Medical Genetics |
1983 |
A new alopecia/mental retardation syndrome |
Pending |
| Journal of Medical Genetics |
1983 |
Histocompatibility Antigens. Structure and Function |
Pending |
| Journal of Medical Genetics |
1984 |
Translocations, social class, and Adam and Eve. |
Pending |
| Journal of Medical Genetics |
1990 |
The Baller-Gerold syndrome: phenotypic and cytogenetic overlap with Roberts syndrome. |
Pending |
| Journal of Medical Genetics |
1991 |
Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome possibly localised on chromosome 2. |
Pending |
| Journal of Medical Genetics |
1993 |
Second polar body incorporation into a blastomere results in 46,XX/69,XXX mixoploidy. |
Pending |
| Journal of Medical Genetics |
1996 |
Gene Therapy: A Handbook for Physicians |
Pending |
| Journal of Medical Genetics |
1996 |
Medical genetics: advances in brief: Prenatal screening for cystic fibrosis: 5 years' experience reviewed |
Pending |
| Journal of Medical Genetics |
1997 |
A syndrome including thumb malformations, microcephaly, short stature, and hypogonadism. |
Pending |
| Journal of Medical Genetics |
1998 |
A Dictionary of Genetics |
Pending |
| Journal of Medical Genetics |
1998 |
Severe phenotype resulting from an active ring X chromosome in a female with a complex karyotype: characterisation and replication study. |
Pending |
| Journal of Medical Genetics |
1999 |
Closing time for CATCH22 |
Pending |
| Journal of Medical Genetics |
1999 |
New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey |
Pending |
| Journal of Medical Genetics |
2000 |
Novel mutations in the homogentisate- 1,2-dioxygenase gene identified in Slovak patients with alkaptonuria |
Pending |
| Journal of Medical Genetics |
2002 |
Spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type): three further cases and evidence of autosomal dominant inheritance |
Pending |
| Journal of Medical Genetics |
2003 |
Significant frequency deviation of the class I polymorphism HLA-A10 in schizophrenic patients |
Pending |
| Journal of Medical Genetics |
2003 |
The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome |
Pending |
| Journal of Medical Genetics |
2004 |
Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome |
Pending |
| Journal of Medical Genetics |
2004 |
Further evidence for heterozygote advantage of GJB2 deafness mutations: a link with cell survival |
Pending |
| Journal of Medical Genetics |
2005 |
Array based CGH and FISH fail to confirm duplication of 8p22-p23.1 in association with Kabuki syndrome |
Pending |
| Journal of Medical Genetics |
2006 |
13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients |
Pending |
| Journal of Medical Genetics |
2006 |
AMP-kinase 2 subunit gene PRKAA2 variants are associated with total cholesterol, low-density lipoprotein-cholesterol and high-density lipoprotein-cho |
Pending |
| Journal of Medical Genetics |
2006 |
The centromeric 11p15 imprinting centre is also involved in Silver-Russell syndrome |
Pending |
| Journal of Medical Genetics |
2019 |
One in three highly selected Greek patients with breast cancer carries a loss-of-function variant in a cancer susceptibility gene |
Pending |
| Journal of Medical Genetics |
2020 |
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort |
Pending |
| The American Journal of Human Genetics |
1998 |
A Gene for Universal Congenital Alopecia Maps to Chromosome 8p21-22 |
Pending |
| The American Journal of Human Genetics |
1998 |
Demonstration of a New Pathogenic Mutation in Human Complex I Deficiency: A 5-bp Duplication in the Nuclear Gene Encoding the 18-kD (AQDQ) Subunit |
Pending |
| The American Journal of Human Genetics |
1999 |
Genes, Demography, and Life Span: The Contribution of Demographic Data in Genetic Studies on Aging and Longevity |
Pending |
| The American Journal of Human Genetics |
2000 |
A Sensitive Denaturing Gradient-Gel Electrophoresis Assay Reveals a High Frequency of Heteroplasmy in Hypervariable Region 1 of the Human mtDNA Contro |
Pending |
| The American Journal of Human Genetics |
2000 |
Composite Statistics for QTL Mapping with Moderately Discordant Sibling Pairs |
Pending |
| The American Journal of Human Genetics |
2001 |
Markers for Mapping by Admixture Linkage Disequilibrium in African American and Hispanic Populations |
Pending |
| The American Journal of Human Genetics |
2003 |
SCA8 Repeat Expansion: Large CTA/CTG Repeat Alleles Are More Common in Ataxic Patients, Including Those with SCA6 |
Pending |
| The American Journal of Human Genetics |
2004 |
CHEK2*1100delC and Susceptibility to Breast Cancer: A Collaborative Analysis Involving 10,860 Breast Cancer Cases and 9,065 Controls from 10 Studies |
Pending |
| The American Journal of Human Genetics |
2005 |
Identification of C7orf11 (TTDN1) Gene Mutations and Genetic Heterogeneity in Nonphotosensitive Trichothiodystrophy |
Pending |
| The American Journal of Human Genetics |
2005 |
Malic Enzyme 2 May Underlie Susceptibility to Adolescent-Onset Idiopathic Generalized Epilepsy |
Pending |
| The American Journal of Human Genetics |
2006 |
Reply to Salviati et al. |
Pending |
| The American Journal of Human Genetics |
2008 |
Comment on a Simple and Improved Correction for Population Stratification |
Pending |
| The American Journal of Human Genetics |
2009 |
Distribution of the Alcohol Dehydrogenase ADH1B∗47His Allele in Eurasia |
Pending |
| The American Journal of Human Genetics |
2009 |
Genome-wide Association Study Reveals Multiple Nasopharyngeal Carcinoma-Associated Loci within the HLA Region at Chromosome 6p21.3 |
Pending |
| The American Journal of Human Genetics |
2011 |
Masthead |
Pending |
| The American Journal of Human Genetics |
2014 |
Gene-centric Meta-analysis in 87,736 Individuals of European Ancestry Identifies Multiple Blood-Pressure-Related Loci |
Pending |
| The American Journal of Human Genetics |
2022 |
Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy |
Pending |
| The American Journal of Human Genetics |
2022 |
Identification and single-base gene-editing functional validation of a cis-EPO variant as a genetic predictor for EPO-increasing therapies |
Pending |
| The American Journal of Human Genetics |
2024 |
Calibration of variant effect predictors on genome-wide data masks heterogeneous performance across genes |
Pending |