J. Moeschler

发表

J. Moeschler, Jan Nisbeft, 2011, American journal of medical genetics. Part A.

The metabolic evaluation of the child with an intellectual developmental disorder: diagnostic algorithm for identification of treatable causes and new digital resource.

C. V. van Karnebeek, J. Moeschler, M. Shevell, 2014, Molecular genetics and metabolism.

The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies

M. Gerstein, Fabian Grubert, L. Shaffer, 2009, Proceedings of the National Academy of Sciences.

Health supervision for children with sickle cell diseases and their families. American Academy of Pediatrics. Committee on Genetics.

J. Moeschler, Chairperson, C. Kaye, 2016, Pediatrics.

6q22.1 microdeletion and susceptibility to pediatric epilepsy

J. Rosenfeld, L. Shaffer, P. Stankiewicz, 2014, European Journal of Human Genetics.

Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low‐copy repeats

Stephanie E. Vallee, J. Rosenfeld, L. Shaffer, 2012, Human mutation.

Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome

S. Aftimos, A. Slavotinek, J. Moeschler, 2009, Journal of Medical Genetics.

Geospatial association between adverse birth outcomes and arsenic in groundwater in New Hampshire, USA

Jiang Gui, Xun Shi, Tracy Onega, 2015, Environmental Geochemistry and Health.

Paternally derived de novo interstitial duplication of proximal 15q in a patient with developmental delay.

T. Mohandas, A. Mamourian, J. Moeschler, 1999, American journal of medical genetics.

Use of the CT scan in the medical evaluation of the mentally retarded child

J. Moeschler, L. Cromwell, F. C. Bennett, 1981 .

Prenatal Screening and Diagnosis for Pediatricians

H. Saal, J. Moeschler, N. Mendelsohn, 2004 .

Additional EFNB1 mutations in craniofrontonasal syndrome

E. Zackai, I. Kaitila, J. Mulliken, 2008, American journal of medical genetics. Part A.

Chapter 99 – HEALTH CARE SYSTEMS

J. Moeschler, 2009 .

Chapter 37 – Neurodevelopmental Disabilities: Global Developmental Delay, Intellectual Disability, and Autism

J. Moeschler, 2013 .

Molecular genetic testing in pediatric practice: A subject review. Committee on Genetics.

H. Hoyme, C. Moore, J. Moeschler, 2016, Pediatrics.

Behavior of 10 patients with FG syndrome (Opitz–Kaveggia syndrome) and the p.R961W mutation in the MED12 gene

J. Opitz, R. Stevenson, C. Schwartz, 2008, American journal of medical genetics. Part A.

Clinical features associated with copy number variations of the 14q32 imprinted gene cluster

J. Rosenfeld, L. Shaffer, B. Ballif, 2015, American journal of medical genetics. Part A.

Use of the CT scan in the medical evaluation of the mentally retarded child.

J. Moeschler, L. Cromwell, F. C. Bennett, 1981, The Journal of pediatrics.

Practice Committee of the Child Neurology Society Subcommittee of the American Academy of Neurology and the global developmental delay : Report of the Quality Standards Evidence Report : Genetic and metabolic testing on children

S. Ashwal, A. Gropman, J. Moeschler, 2012 .

Evidence Report: Genetic and metabolic testing on children with global developmental delay

S. Ashwal, A. Gropman, J. Moeschler, 2011, Neurology.

Maternal disomy and Prader-Willi syndrome consistent with gamete complementation in a case of familial translocation (3;15) (p25;q11.2).

T. Mohandas, J. Moeschler, D. Belloni, 1998, American journal of medical genetics.

A unique de novo interstitial deletion del(17) (q21.3q23) in a phenotypically abnormal infant

J. Moeschler, Jonathan P. Park, D. Wurster-Hill, 1992, Clinical genetics.

How best to use CGH arrays in the clinical setting

J. Moeschler, R. Saul, 2009, Genetics in Medicine.

So What? Does the Test Lead to Improved Health Outcomes?

S. Ashwal, A. Gropman, J. Moeschler, 2012, Neurology.

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Golder N Wilson, A. V. Vulto-van Silfhout, R. Pfundt, 2018, Genetics in Medicine.

16p12.2 Microdeletion

J. Rosenfeld, S. Girirajan, J. Moeschler, 2015 .

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

A. V. Vulto-van Silfhout, R. Pfundt, B. D. de Vries, 2019, Genetics in Medicine.

Smith-Magenis syndrome resulting from a de novo direct insertion of proximal 17q into 17p11.2.

P. Patel, T. Mohandas, J. Moeschler, 1998, American journal of medical genetics.

National profile of children with Down syndrome: disease burden, access to care, and family impact.

Robert J. McGrath, J. Moeschler, W. Cooley, 2011, The Journal of pediatrics.

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.

Genotype–phenotype correlation in interstitial 6q deletions: a report of 12 new cases

J. Rosenfeld, L. Shaffer, J. Ellison, 2012, neurogenetics.

Analysis of the chondroitin sulfate proteoglycan core protein (CSPGCP) gene in achondroplasia and pseudoachondroplasia.

J. Graham, R. Pyeritz, R. Pauli, 1991, American journal of human genetics.

Evaluation of the Newborn With Developmental Anomalies of the External Genitalia

J. Moeschler, C. Kaye, C. Cunniff, 2000, Pediatrics.

Mild Brachmann-de Lange syndrome. Phenotypic and developmental characteristics of mildly affected individuals.

J. Graham, J. Moeschler, 1993, American journal of medical genetics.

Neuroimaging findings in macrocephaly–capillary malformation: A longitudinal study of 17 patients

E. Zackai, B. Harding, J. Graham, 2007, American journal of medical genetics. Part A.

Familial occurrence of hemifacial microsomia with radial limb defects.

S. Clarren, J. Moeschler, John M. Opitz, 1982, American journal of medical genetics.

Neurodevelopmental disorders and genetic testing: Current approaches and future advances

S. Ashwal, A. Gropman, J. Moeschler, 2013, Annals of neurology.

A recurrent 16p12.1 microdeletion suggests a two-hit model for severe developmental delay

Deborah L. Levy, Gregory M. Cooper, Brian L. Browning, 2010, Nature Genetics.

Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity.

J. Gécz, C. Schwartz, Yang Shi, 2015, Human molecular genetics.

Estimate of prevalence of proximal 15q duplication syndrome.

T. Mohandas, J. Moeschler, W. Noll, 2002, American journal of medical genetics.

American Academy of Pediatrics: Health care supervision for children with Williams syndrome.

J. Moeschler, C. Kaye, C. Cunniff, 2001, Pediatrics.

Developmental Delays Clinical Genetic Evaluation of the Child With Mental Retardation or

J. Moeschler, M. Shevell, 2012 .

Clinical Genetic Evaluation of the Child With Mental Retardation or Developmental Delays

J. Moeschler, M. Shevell, 2006, Pediatrics.

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.

Comprehensive Evaluation of the Child With Intellectual Disability or Global Developmental Delays

J. Moeschler, M. Shevell, 2014, Pediatrics.

Chapter 37 – Neurodevelopmental Disabilities: Global Developmental Delay, Intellectual Disability, and Autism

J. Moeschler, 2013 .

Cognitive functioning in the fragile-X syndrome: a study of intellectual, memory and communication skills.

J. Moeschler, L. S. Madison, C. George, 2008, Journal of mental deficiency research.

FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing.

E. Jabs, A. F. Scott, J. Graham, 1996, American journal of human genetics.

Schizophrenia and mental retardation in an adult male with a de novo interstitial deletion 9(q32q34.1).

J. Moeschler, J. P. Park, D. Wurster-Hill, 1991, Journal of medical genetics.

Longitudinal observations on 15 children with Wiedemann-Beckwith syndrome.

J. Graham, J. Moeschler, E. Y. Weng, 1995, American journal of medical genetics.

A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome

J. Opitz, R. Stevenson, C. Schwartz, 2007, Nature Genetics.

Behavioral features in young adults with FG syndrome (Opitz–Kaveggia syndrome)

J. Graham, R. Clark, R. C. Rogers, 2010, American journal of medical genetics. Part C, Seminars in medical genetics.

Medical genetics diagnostic evaluation of the child with global developmental delay or intellectual disability

J. Moeschler, 2008, Current opinion in neurology.

Genetic evaluation of intellectual disabilities.

J. Moeschler, 2008, Seminars in pediatric neurology.

Prenatal diagnosis and confirmation of trisomy 12 mosaicism

J. Moeschler, Jonathan P. Park, D. Wurster-Hill, 1991, Prenatal diagnosis.

Familial translocation 5;14 resulting in an unbalanced offspring.

J. Moeschler, J. P. Park, M. Edwards, 1991, American journal of medical genetics.

Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.

E. Zackai, A. Guttmacher, M. Bamshad, 2005, American journal of human genetics.

Radiological features in Brachmann-de Lange syndrome.

J. Graham, J. Carey, J. Moeschler, 1993, American journal of medical genetics.

Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics.

S Schwartz, S. Schwartz, J. Opitz, 1997, American journal of medical genetics.

Identification of two 14q32 deletions involving DICER1 associated with the development of DICER1-related tumors.

S. South, Erica F Andersen, J. Moeschler, 2019, European journal of medical genetics.

Genotype–phenotype correlation in interstitial 6q deletions: a report of 12 new cases

J. Rosenfeld, L. Shaffer, J. Ellison, 2012, neurogenetics.

FG syndrome, an X-linked multiple congenital anomaly syndrome: The clinical phenotype and an algorithm for diagnostic testing

A. Battaglia, R. Stevenson, C. Schwartz, 2009, Genetics in Medicine.

Further delineation of the 10p deletion syndrome.

J. Carey, J. Moeschler, M. Lubinsky, 1984, Pediatrics.

Improving genetic health care: A Northern New England pilot project addressing the genetic evaluation of the child with developmental delays or intellectual disability

J. Moeschler, Rosemarie Smith, Wendy E Smith, 2009, American journal of medical genetics. Part C, Seminars in medical genetics.

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Patricia H. Wheeler, A. V. Vulto-van Silfhout, R. Pfundt, 2018, Genetics in Medicine.

Klinefelter and trisomy X syndromes in patients with Prader-Willi syndrome and uniparental maternal disomy of chromosome 15--a coincidence?

P. Rogan, J. Moeschler, M. Butler, 1997, American journal of medical genetics.

Deletion of chromosome 21 disturbs human brain

J. Korenberg, J. Moeschler, G. Barlow, 2006 .

Deletion of chromosome 21 disturbs human brain morphogenesis

J. Korenberg, J. Moeschler, G. Barlow, 2006, Genetics in Medicine.

Informed consent for medical photographs

Ann Haskins Olney, C. Stevens, R. Pauli, 2000, Genetics in Medicine.

A case of de novo translocation 7; 10 and the duplication 7p, deletion 10p phenotype.

J. Moeschler, J. P. Park, D. Wurster-Hill, 1993, Annales de genetique.

Trisomy 18 and 18p‐ features in a case of isochromosome 18q [46,XY,i(18q)]: prenatal diagnosis and autopsy report

J. Moeschler, Jonathan P. Park, Doris H. Wurster‐Hill, 1991, Clinical genetics.

The Johanson-Blizzard syndrome: a second report of full autopsy findings.

J. Moeschler, M. Polak, R. Amato, 1987, American journal of medical genetics.

Reactions of mothers and medical professionals to a film about Down syndrome.

J. Graham, J. Moeschler, W. Cooley, 1990, American journal of diseases of children.

Rett syndrome: natural history and management.

J. Graham, J. Moeschler, S. Berg, 1988, Pediatrics.

Johanson-Blizzard syndrome with normal intelligence.

J. Moeschler, M. Lubinsky, 1985, American journal of medical genetics.

16p12.2 Recurrent Deletion

J. Rosenfeld, S. Girirajan, J. Moeschler, 1993 .

Analysis oftheChondroitin Sulfate Proteoglycan CoreProtein (CSPGCP) GeneinAchondroplasia andPseudoachondroplasia

R. Pyeritz, R. Pauli, J. Moeschler, 1991 .

S. Ashwal, A. Gropman, J. Moeschler, 2012 .

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.

Familial t(11;13)(q21;q14) and the duplication 11q, 13q phenotype.

J. Moeschler, J. P. Park, M. McDermet, 1993, American journal of medical genetics.

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms

I. Krantz, E. Roeder, J. Graham, 2023, American journal of medical genetics. Part A.

S. Ashwal, A. Gropman, J. Moeschler, 2012 .

Neurodevelopmental Disabilities

J. Moeschler, 2019, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics.

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.