R. Ladda

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Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

S. Scherer, J. Rosenfeld, A. V. Vulto-van Silfhout, 2016, Molecular Psychiatry.

Hereditary Factors in Sleepwalking and Night Terrors

E. Bixler, D. Charney, P. Schweitzer, 1980, British Journal of Psychiatry.

Chloroquine Sensitivity and Pigment Formation in Rodent Malaria∗

R. Ladda, H. Sprinz, 1969, Proceedings of the Society for Experimental Biology and Medicine. Society for Experimental Biology and Medicine.

Cerebro-ocular dysplasia — muscular dystrophy (Walker Warburg) syndrome

J. Towfighi, R. Ladda, G. Miller, 2004, Acta Neuropathologica.

Two infants with del(3)(p25pter) and a review of previously reported cases.

R. Ladda, C. Frankel, J. Ramer, 1989, American journal of medical genetics.

Computer-Assisted Analysis of Chromosomal Abnormalities: Detection of a Deletion in Aniridia/ Wilms' Tumor Syndrome

P. Neurath, J. Littlefield, R. Ladda, 1974, Science.

Genotype–phenotype analysis of 4q deletion syndrome: Proposal of a critical region

J. Rosenfeld, C. Stevens, C. Curry, 2012, American journal of medical genetics. Part A.

Hershey Medical Center Technical Workshop Report: optimizing the design and interpretation of epidemiologic studies for assessing neurodevelopmental effects from in utero chemical exposure.

A. Belger, L. Lipsitt, B. Sonawane, 2006, Neurotoxicology.

Familial Atrial Septal Defect with Prolonged Atrioventricular Conduction

R. Ladda, W. E. Pease, A. Nordenberg, 1976, Circulation.

Clinical and molecular analyses of deletion 3p25-pter syndrome.

M. Lerman, B. Zbar, P. Rogan, 1993, American journal of medical genetics.

Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria.

Y. Crow, D. Pilz, W. Dobyns, 2010, American journal of human genetics.

250 INDUCTION OF COLLAGENASE SECRETION IN HUMAN FIBROBLAST CULTURES BY GROWTH PROMOTING FACTORS

D. Geiman, R. Ladda, G. H. Keller, 1985, Pediatric Research.

A new missense mutation, Arg719Gln, in the beta-cardiac heavy chain myosin gene of patients with familial hypertrophic cardiomyopathy.

P. Rogan, R. Ladda, B. Baylen, 1994, Human molecular genetics.

Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg519-->Cys base substitution using conformation sensitive gel electrophoresis.

D. Prockop, M. Rock, R. Ladda, 1995, Human molecular genetics.

High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44

J. Rosenfeld, R. Tervo, B. Torchia, 2011, Human Genetics.

Electron microscopy of Plasmodium falciparum . 1. The structure of trophozoites in erythrocytes of human volunteers.

R. Ladda, J. Arnold, D. Martin, 1966, Transactions of the Royal Society of Tropical Medicine and Hygiene.

Inheritance of an RNA splicing mutation (G+ 1 IVS20) in the type III procollagen gene (COL3A1) in a family having aortic aneurysms and easy bruisability: phenotypic overlap between familial arterial aneurysms and Ehlers-Danlos syndrome type IV.

H. Kuivaniemi, G. Tromp, D. Prockop, 1990, American journal of human genetics.

Hereditary multiple exostoses: report of a kindred.

R. Ladda, J. Buchanan, S. Gordon, 1981, Journal of medical genetics.

Protein kinase C and non-functional EGF receptor in K-ras transformed cells.

R. Ladda, C. C. Chua, 1986, Biochemical and biophysical research communications.

Radioreceptor assay for epidermal growth factor.

R. Ladda, L. Bullock, L. Mccormick, 1979, Analytical biochemistry.

Absence of linkage of apparently single gene mediated ADHD with the human syntenic region of the mouse mutant Coloboma.

P. Rogan, E. Hess, R. Ladda, 1995, American journal of medical genetics.

Five children with del (2)(q31q33) and one individual with dup (2)(q31q33) from a single family: review of brain, cardiac, and limb malformations.

J. Towfighi, R. Ladda, J. Ramer, 1990, American journal of medical genetics.

A review of phenotype-karyotype correlations in individuals with interstitial deletions of the long arm of chromosome 2.

R. Ladda, C. Frankel, J. Ramer, 1989, American journal of medical genetics.

Penetration of Erythrocytes by Merozoites of Mammalian and Avian Malarial Parasites*

R. Ladda, M. Aikawa, H. Sprinz, 2001, Journal of Parasitology.

Carriers with excessively low factor VIII procoagulant activity (VIII AHF): a study of two unrelated families with mild hemophilia A

R. Ladda, Eyster Me, H. Bowman, 1977 .

The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes

Stephanie E. Vallee, J. Rosenfeld, R. Tervo, 2013, American journal of medical genetics. Part A.

Identical twins with Weissenbacher-Zweymüller syndrome and neural tube defect.

P. Rogan, R. Ladda, K. Eggli, 1993, American journal of medical genetics.

Rapid detection of mutations by conformation-sensitive gel electrophoresis. Application to the identification of a fourth family with the Arg519→Cys substitution and three new mutations in the type II procollagen gene

D. Prockop, M. Rock, A. Ganguly, 1994 .

Receptor for epidermal growth factor retains normal structure and function in aging cells

D. Geiman, R. Ladda, C. C. Chua, 1986, Mechanisms of Ageing and Development.

Carriers with excessively low factor VIII procoagulant activity (VIII AHF): a study of two unrelated families with mild hemophilia A.

M. Eyster, R. Ladda, H. Bowman, 1977, Blood.

Transforming growth factors released from Kirsten sarcoma virus transformed cells do not compete for epidermal growth factor membrane receptors

D. Geiman, R. Ladda, C. C. Chua, 1983, Journal of cellular physiology.

Correlation between phosphatidylcholine labeling and hormone receptor levels in alveolar type II epithelial cells: effects of dexamethasone and epidermal growth factor.

R. Ladda, G. H. Keller, 1981, Archives of biochemistry and biophysics.

Marden-Walker phenotype: spectrum of variability in three infants.

R. Ladda, C. Frankel, J. Ramer, 1993, American journal of medical genetics.

"Marden-Walker syndrome": neuropathologic findings in two siblings.

J. Towfighi, R. Ladda, D. Robins, 1990, Pediatric pathology.

Generalized epidermolytic hyperkeratosis in the child of a parent with nevus comedonicus.

C. Cohen, R. Ladda, D. Lookingbill, 1984, Archives of dermatology.

Familial leuconychia, knuckle pads, hearing loss, and palmoplantar hyperkeratosis: an additional family with Bart-Pumphrey syndrome.

R. Ladda, D. Vasily, J. Ramer, 1994, Journal of medical genetics.

A human hepatoma cell line (PCL/PRF/5) produces lung metastases and secretes HBsAg in nude mice.

J. Kreider, S. Paolucci, R. Ladda, 1982, European journal of cancer & clinical oncology.

Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22.

T. Matise, J. Weissenbach, A. Chakravarti, 1994, Human molecular genetics.

Epidermal growth factor potentiates cortisone-induced cleft palate in the mouse.

R. Ladda, A. Bedrick, 1978, Teratology.

Long-term persistence of cytomegalovirus genome in cultured human cells of prostatic origin

M. Webber, F. Rapp, E. Huang, 1975, Journal of virology.

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.

S. Scherer, J. Rosenfeld, E. Eichler, 2013, American journal of human genetics.

Second locus for Hirschsprung disease/Waardenburg syndrome in a large Mennonite kindred.

R. Williamson, L. Mulligan, S. Lyonnet, 1994, American journal of medical genetics.

The frequency of uniparental disomy in Prader-Willi syndrome. Implications for molecular diagnosis.

A. Jeffreys, J. Armour, P. Rogan, 1992, The New England journal of medicine.

Molecular Analysis in Angelman Syndrome. Prader-Willi Syndrome and Potental Mouse Models

D. J. Driscoll, C. Williams, P. Rogan, 1992 .

Multiple pterygium syndrome. An overview.

R. Ladda, J. Ramer, W. Demuth, 1988, American journal of diseases of children.

Phenotypic variation of multiple pterygium syndrome in siblings, including identical twins

R. Ladda, J. Ramer, E. Kilchevsky, 1991 .

Neurologic manifestations in 18q- syndrome.

K. Hopper, R. Ladda, G. Miller, 1990, American journal of medical genetics.

Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features

Stephanie E. Vallee, J. Rosenfeld, E. Eichler, 2012, Human mutation.

Decrease in epidermal growth factor receptor levels and production of material enhancing epidermal growth factor binding accompany the temperature-dependent changes from normal to transformed phenotype.

R. Ladda, P. Guinivan, 1979, Proceedings of the National Academy of Sciences of the United States of America.

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

Duplication of the distal long arm of chromosome 15: Report of three new patients and review of the literature

J. Fink, R. Ladda, N. Mendelsohn, 2004, American journal of medical genetics. Part A.

Duplication and loss of chromosome 21 in two children with Down syndrome and acute leukemia.

P. Close, P. Rogan, J. Blouin, 1994, American journal of medical genetics.

Cytogenetic engineering in vivo: restoration of biologic complement activity to C5-deficient mice by intravenous inoculation of hybrid cells.

R. Ladda, R. Lieberman, N. L. Levy, 1973, Proceedings of the National Academy of Sciences of the United States of America.

De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.

Ellen F. Macnamara, L. Vissers, B. D. de Vries, 2019, American journal of human genetics.

Update on the ACTG1‐associated Baraitser–Winter cerebrofrontofacial syndrome

A. Rump, W. Dobyns, J. Altmüller, 2016, American journal of medical genetics. Part A.

Redefining the Etiologic Landscape of Cerebellar Malformations.

I. Krantz, D. Nickerson, G. Seelig, 2019, American journal of human genetics.

Purkinje cell inclusions and 'atelencephaly' in 13q-chromosomal syndrome.

J. Towfighi, R. Ladda, F. Sharkey, 1987, Archives of pathology & laboratory medicine.

Tethered cord, corpus callosum abnormalities, and periventricular cysts in Wolf–Hirschhorn syndrome. Report of two cases and review of the literature

R. Ladda, A. Choudhary, Joel K. Verbrugge, 2009, American journal of medical genetics. Part A.

Pitt Hopkins-Like Syndrome 1 with Novel CNTNAP2 Mutation in Siblings

R. Ladda, G. Mainali, Ashutosh Kumar, 2021, Child neurology open.

Failure to Thrive: An Expanded Differential Diagnosis

C. Ficicioglu, R. Ladda, C. Daymont, 2018, Journal of Pediatric Genetics.

"Mosaic trachea" in a child with trisomy 9 mosaicism.

G. Isaacson, R. Ladda, J. Gniady, 2010, International journal of pediatric otorhinolaryngology.

Neuropathology of oral-facial-digital syndromes.

C. Berlin, R. Lehman, J. Towfighi, 1985, Archives of pathology & laboratory medicine.

Retinoblastoma: chromosome banding in patients with heritable tumour.

R. Pruett, J. Littlefield, R. Ladda, 1973, Lancet.

Malformations in a child with dup (7 pter‐p15.1) and del (7 q36‐qter) as a result of familial pericentric inversion

R. Ladda, J. Ramer, P. Mowrey, 1991, Clinical genetics.

Introduction of a heterologous nucleus into enucleated cytoplasms of cultured mouse L-cells.

R. Ladda, R. Estensen, 1970, Proceedings of the National Academy of Sciences of the United States of America.

HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans.

M. Wlodarski, A. MacInnes, R. Houtkooper, 2019, American journal of human genetics.

High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44

J. Rosenfeld, R. Tervo, B. Torchia, 2011, Human Genetics.

Dandy-Walker malformation in Ellis-van Creveld syndrome.

R. Ladda, K. Zangwill, D. Boal, 1988, American journal of medical genetics.

Restoration of haemolytic complement activity in C5-deficient mice by gene complementation in hybrid cells.

R. Ladda, N. L. Levy, 1971, Nature: New biology.

PIGG variant pathogenicity assessment reveals characteristic features within 19 families

S. Antonarakis, S. Ellard, R. Truty, 2021, Genetics in Medicine.

Prenatal diagnosis of Duchenne muscular dystrophy: failure of amniotic fluid and maternal serum N tau-methylhistidine analyses to detect affected fetuses.

R. Lorenz, A. Emery, R. Ladda, 1982, American journal of obstetrics and gynecology.

Previously apparently undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation.

R. Winter, W. Dobyns, A. Lin, 1995, American journal of medical genetics.

Cosegregation of X-linked retinitis pigmentosa and hemophilia A.

Y. Rabinowitz, M. Eyster, R. Ladda, 1988, American journal of ophthalmology.

Gonadal dysgenesis in a 46,XY female mosaic for double autosomal trisomies 8 and 21.

R. Ladda, J. Sulewski, S. Ward, 1980, Journal of medical genetics.

Quantitation of phosphatidylcholine secretion in lung slices and primary cultures of rat lung cells.

R. Ladda, G. H. Keller, G. Keller, 1979, Proceedings of the National Academy of Sciences of the United States of America.

Congenital contractures, ectodermal dysplasia, cleft lip/palate, and developmental impairment: a distinct syndrome.

P. Rogan, J. Zonana, R. Ladda, 1993, American journal of medical genetics.

The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: Lessons learned from infantile Pompe disease

Yuan-Tsong Chen, R. Finkel, Yuan-Tsong Chen, 2011, Genetics in Medicine.

Establishment and characterization of a new endometrial cancer cell line (SCRC-1).

F. Rapp, R. Mortel, R. Ladda, 1979, American journal of obstetrics and gynecology.

New insights into the fine structure of rodent malarial parasites.

R. Ladda, 1969, Military medicine.

Humero-radial synostosis with ulnar defects in sibs.

R. Ladda, J. Ramer, 1989, American journal of medical genetics.

Induction and suppression of type I collagenase in cultured human cells.

D. Geiman, R. Ladda, D. Barritault, 1987, Collagen and related research.

Nonfunctional epidermal growth factor receptor in cells transformed by Kirsten sarcoma virus.

D. Geiman, A. Schreiber, R. Ladda, 1984, Biochemical and biophysical research communications.

Effect of tunicamycin on the biosynthesis of human fibroblast collagenase.

R. Ladda, C. C. Chua, 1987, Collagen and related research.

Cerebro-ocular dysplasia —Muscular dystrophy (COD-MD) syndrome

J. Towfighi, R. Ladda, Kinuko Suzuki, 2004, Acta Neuropathologica.

Dexamethasone receptor levels in palatal and lung fibroblasts of adult A/J and C57BL/6J mice: relationship to glucocorticoid-induced cleft palate.

R. Azziz, R. Ladda, 1990, The Cleft palate journal.

Dexamethasone Receptor Levels in Palatal and Lung Fibroblasts of Adult A/J and C57BL/6J Mice: Relationship to Glucocorticoid-Induced Cleft Palate

R. Azziz, R. Ladda, 1990 .

Craniosynostosis associated with limb reduction malformations and cleft lip/palate: a distinct syndrome.

R. Ladda, S. Gordon, W. P. Graham, 1978, Pediatrics.

POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies.

Lisa A. Lansdon, O. Devinsky, R. Jech, 2023, American journal of human genetics.

Somatic cell mosaicism: another source of phenotypic heterogeneity in nuclear families with osteogenesis imperfecta.

D. Prockop, R. Ladda, C. Constantinou‐Deltas, 1993, American journal of medical genetics.

MONOZYGOTIC TWINS CONCORDANT FOR TRACHEO‐ESOPHAGEAL FISTULA AND DISCORDANT FOR THE VATER ASSOCIATION

R. Ladda, S. Shochat, S. King, 1977, Acta paediatrica Scandinavica.

Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes

Matthew J. Thomas, J. Rosenfeld, B. Torchia, 2012, European Journal of Human Genetics.

Syndrome identification #149: Trigonocephaly, pachygyria, retinal coloboma, and cardiac defect: A distinct syndrome

R. Ladda, E. Manders, J. Ramer, 1992 .

Encouraging patients to undergo prenatal genetic counseling before the day of amniocentesis. Its effect on the use of amniocentesis.

R. Lorenz, R. Ladda, J. Botti, 1985, The Journal of reproductive medicine.

De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.

Ellen F. Macnamara, L. Vissers, B. D. de Vries, 2019, American journal of human genetics.

ELECTRON MICROSCOPY OF PLASMODIUM BERGHEI. I. ON THE MIGRATION OF TROPHOZOITES FROM INFECTED ERYTHROCYTES IN THE RAT.

R. Ladda, J. Arnold, D. Martin, 1965, Transactions of the Royal Society of Tropical Medicine and Hygiene.

Case Report: Genetic analysis and anesthetic management of a child with Niemann-Pick disease Type A

R. Ladda, P. Janicki, P. Dalal, 2015, F1000Research.

Börjeson–Forssman–Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families

A. Clarke, S. Berland, L. Greenhalgh, 2023, European Journal of Human Genetics.

Eye‐derived growth factor from retina and epidermal growth factor are immunologically distinct and bind to different receptors on human foreskin fibroblasts

R. Ladda, D. Barritault, J. Plouët, 1982, FEBS Letters.

Sex chromosomal mosaicism undetected by prenatal study.

R. Ladda, R. Ladda, R. Hildebrandt, 1977, The Journal of pediatrics.

Detection of an Mr 200,000 glycoprotein in the culture medium of skin fibroblasts from patients with Huntington disease.

D. Geiman, R. Ladda, C. C. Chua, 1983, Biochemical and biophysical research communications.

Effect of differentiation inducers on growth characteristics of human glioma cell lines

F. Rapp, J. Kreider, J. Towfighi, 2004, Journal of Neuro-Oncology.

The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes

Stephanie E. Vallee, J. Rosenfeld, R. Tervo, 2013, American journal of medical genetics. Part A.