| human | Q5 |
| P496 | ORCID iD | 0000-0002-4977-9719 |
| P108 | employer | Columbia University Irving Medical Center | Q2415975 |
| P106 | occupation | researcher | Q1650915 |
| Q34520494 | A mutation abolishing the ZMPSTE24 cleavage site in prelamin A causes a progeroid disorder |
| Q41293167 | A novel mutation causing pseudohypoparathyroidism 1A with congenital hypothyroidism and osteoma cutis. |
| Q57155473 | Application of ROMA (representational oligonucleotide microarray analysis) to patients with cytogenetic rearrangements |
| Q40360065 | Baller-Gerold syndrome craniosynostosis-radial aplasia syndrome. |
| Q56266778 | Bohring-Opitz syndrome (BOS) with a new ASXL1 pathogenic variant: Review of the most prevalent molecular and phenotypic features of the syndrome |
| Q41831783 | CM-AVM syndrome in a neonate: case report and treatment with a novel flow reduction strategy |
| Q53125474 | CORRIGENDUM: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations. |
| Q74242257 | Calcium ionophore-induced degradation of neurofilament and cell death in MSN neuroblastoma cells |
| Q72909995 | Caveat to genotype-phenotype correlation in mucopolysaccharidosis type II: discordant clinical severity of R468W and R468Q mutations of the iduronate-2-sulfatase gene |
| Q55670525 | Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy |
| Q51934455 | Changes in an inherited ring (22) due to meiotic recombination? Implications for genetic counseling. |
| Q24297817 | Characterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDH |
| Q70914237 | Cleft lip and palate, corneal opacities and profound psychomotor retardation. A newly recognized genetic syndrome? |
| Q38231467 | Clinical spectrum of capillary malformation-arteriovenous malformation syndrome presenting to a pediatric dermatology practice: a retrospective study |
| Q35249129 | Coding mutations in p57KIP2 are present in some cases of Beckwith-Wiedemann syndrome but are rare or absent in Wilms tumors |
| Q36858518 | Congenital hypothyroidism and thyroid dyshormonogenesis: a case report of siblings with a newly identified mutation in thyroperoxidase. |
| Q78640862 | Congenital myopathy, recurrent secretory diarrhea, bullous eruption of skin, microcephaly, and deafness: a new genetic syndrome? |
| Q81603498 | Cutis verticis gyrata in a patient with Noonan syndrome |
| Q34385002 | DAX1 mutations map to putative structural domains in a deduced three-dimensional model |
| Q34525188 | De novo mutations in PURA are associated with hypotonia and developmental delay |
| Q47278375 | Diagnostic exome sequencing in children: A survey of parental understanding, experience and psychological impact |
| Q41654108 | Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans. |
| Q38194943 | Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations |
| Q52893247 | FTO variant associated with malformation syndrome. |
| Q77317822 | First-trimester transvaginal ultrasonographic diagnosis of Dandy-Walker malformation |
| Q36891139 | Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures |
| Q52051935 | Guidelines for the preparation and analysis of the fragile X chromosome in lymphocytes. |
| Q69603852 | Hemoglobinopathy screening during early pregnancy |
| Q44793015 | Herrmann-Opitz syndrome: report of an affected fetus. |
| Q57021667 | Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability |
| Q37216346 | Homozygosity for multiple contiguous single-nucleotide polymorphisms as an indicator of large heterozygous deletions: identification of a novel heterozygous 8-kb intragenic deletion (IVS7-19 to IVS15-17) in a patient with glycogen storage disease ty |
| Q64937909 | Homozygous noncanonical splice variant in LSM1 in two siblings with multiple congenital anomalies and global developmental delay. |
| Q68159336 | Hydrolethalus (Salonen-Herva-Norio) syndrome: further clinicopathological delineation |
| Q43818937 | Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease). |
| Q37258090 | Incidence of aortic root dilatation in pectus excavatum and its association with Marfan syndrome |
| Q52684768 | Loss-of-function variants in NFIA provide further support that NFIA is a critical gene in 1p32-p31 deletion syndrome: A four patient series. |
| Q77180266 | Maternal germline mosaicism in dominant dystrophic epidermolysis bullosa |
| Q70816994 | Maternal uniparental disomy of chromosome 2 in a baby with trisomy 2 mosaicism in amniotic fluid culture |
| Q38191798 | Megacystis-microcolon-intestinal hypoperistalsis syndrome: case report and review of prenatal ultrasonographic findings |
| Q35249478 | Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients |
| Q47571994 | Molecular diagnostic dilemmas in Rett syndrome |
| Q28141491 | Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion |
| Q69106546 | Mosaic tetrasomy 12p: four new cases, and confirmation of the chromosomal origin of the supernumerary chromosome in one of the original Pallister-Mosaic syndrome cases |
| Q41931114 | Mosaic variegated aneuploidy with microcephaly: a new human mitotic mutant? |
| Q36709687 | Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen |
| Q37217021 | Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction |
| Q40871094 | Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination. |
| Q21144873 | Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth |
| Q67965795 | Myelomeningocele, Arnold-Chiari anomaly and hydrocephalus in focal dermal hypoplasia |
| Q37365844 | Networks of attention in children with the 22q11 deletion syndrome |
| Q37367189 | Neuropsychological characteristics of children with the 22q11 Deletion Syndrome: a descriptive analysis |
| Q40914444 | New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome). |
| Q33603056 | New diagnosis of atypical ataxia-telangiectasia in a 17-year-old boy with T-cell acute lymphoblastic leukemia and a novel ATM mutation |
| Q43827222 | Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenita. |
| Q87166223 | Partial uniparental disomy with mosaic deletion 13q in an infant with multiple congenital anomalies |
| Q78336727 | Paternal germline mosaicism in Herlitz junctional epidermolysis bullosa |
| Q33434911 | Phenotypic Heterogeneity of Neutropenia and Gastrointestinal Illness Associated with G6PC3 Founder Mutation |
| Q91175482 | Phylloid terminal hair nevus: A unique clinical entity |
| Q34359126 | Preliminary definition of a "critical region" of chromosome 13 in q32: report of 14 cases with 13q deletions and review of the literature. |
| Q39394723 | Rare inheritance of Leri-Weill Syndrome due to crossover of short stature Homeobox Gene (SHOX) Deletions between X and Y Chromosomes: a case report |
| Q91337833 | Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature |
| Q40102341 | Retinoblastoma presenting in a child with hypomelanosis of Ito. |
| Q33459467 | Tetraphocomelia in the syndrome of thrombocytopenia with absent radii (TAR syndrome). |
| Q34424950 | Tetratricopeptide repeat domain 7A (TTC7A) mutation in a newborn with multiple intestinal atresia and combined immunodeficiency |
| Q37432642 | The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease |
| Q38778355 | The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations |
| Q37640927 | The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. |
| Q84535978 | The proximal chromosome 14q microdeletion syndrome: delineation of the phenotype using high resolution SNP oligonucleotide microarray analysis (SOMA) and review of the literature |
| Q50657606 | The usefulness of whole-exome sequencing in routine clinical practice. |
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