J. Graham

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Deformational brachycephaly in supine-sleeping infants.

J. Graham, J. Kreutzman, D. Earl, 2005, The Journal of pediatrics.

The intellectual disabilities evaluation and advice system (IDEAS): Outcome of the first 55 cases

R. Stevenson, J. Graham, G. Turner, 2014, American journal of medical genetics. Part A.

Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

Colin A. Johnson, D. Horn, S. Mundlos, 2005, Nature Genetics.

Turner Syndrome: An Update and Review for the Primary Pediatrician

J. Graham, Brandy H Doswell, J. Visootsak, 2006, Clinical pediatrics.

Management of deformational plagiocephaly: repositioning versus orthotic therapy.

Xiuqing Guo, J. Graham, J. Kreutzman, 2005, The Journal of pediatrics.

GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function

J. Graham, M. Tagliati, T. Pierson, 2017, Journal of Human Genetics.

Uterine contractions after antibiotic therapy for pyelonephritis in pregnancy.

J. Graham, B. Oshiro, J. D. Blanco, 1993, American journal of obstetrics and gynecology.

Exome sequencing identifies PDE4D mutations in acrodysostosis.

Hane Lee, Deborah Krakow, Stanley F Nelson, 2012, American journal of human genetics.

Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy.

Carol J. Saunders, R. Pfundt, E. Bertini, 2016, American journal of human genetics.

Novel pathogenic COX20 variants causing dysarthria, ataxia, and sensory neuropathy

J. Graham, K. Mathews, T. Pierson, 2018, Annals of clinical and translational neurology.

Mutation in the sixth immunoglobulin domain of L1CAM is associated with migrational brain anomalies

J. Graham, T. Pierson, Christine Shieh, 2015, Neurology: Genetics.

Clinical Delineation and Natural History of the PIK3CA-Related Overgrowth Spectrum**

Julie C. Sapp, R. Whitehouse, L. Biesecker, 2014, American journal of medical genetics. Part A.

Mumps, Measles, Rubella, and Roseola

J. Graham, M. Monga, B. Oshiro, 1994 .

The skeleton and musculature on foetal MRI

S. Nemec, J. Graham, D. Prayer, 2011, Insights into imaging.

Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): Is prenatal diagnosis possible?

F. Baas, J. Graham, W. Dobyns, 2010, American journal of medical genetics. Part A.

Fetal constraint as a potential risk factor for craniosynostosis

G. Shaw, S. Rasmussen, J. Graham, 2010, American journal of medical genetics. Part A.

MR imaging of the fetal musculoskeletal system

S. Nemec, J. Graham, D. Prayer, 2012, Prenatal diagnosis.

Female external genitalia on fetal magnetic resonance imaging

S. Nemec, C. Krestan, J. Graham, 2011, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Male sexual development in utero: testicular descent on prenatal magnetic resonance imaging

S. Nemec, C. Krestan, J. Graham, 2011, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Abnormalities of the upper extremities on fetal magnetic resonance imaging

S. Nemec, J. Graham, D. Prayer, 2011, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

The Skeleton and Musculature

S. Nemec, J. Graham, D. Prayer, 2010 .

Clinical review of genetic epileptic encephalopathies.

J. Graham, Grace J Noh, Y. Jane Tavyev Asher, 2012, European journal of medical genetics.

Deletions of 20p12 in Alagille syndrome: frequency and molecular characterization.

I. Krantz, N. Spinner, J. Graham, 1997, American journal of medical genetics.

Clinical and molecular studies in full trisomy 22: further delineation of the phenotype and review of the literature.

J. Graham, C. Bacino, T. Prezant, 1995, American journal of medical genetics.

Clinical management of patients with ASXL1 mutations and Bohring–Opitz syndrome, emphasizing the need for Wilms tumor surveillance

L. Biesecker, J. Graham, C. Brownstein, 2015, American journal of medical genetics. Part A.

Chapter 5 – Talipes Equinovarus (Clubfoot)

J. Graham, 2007 .

Chapter 50 – Obstetric Procedure–Related Defects: Early CVS, Amniocentesis Needle Injuries, Incomplete D&C, Fetal Reduction Procedures, Placental Trauma

J. Graham, 2007 .

Coronal craniostenosis: fetal head constraint as one possible cause.

J. Graham, D. W. Smith, R. Badura, 1980, Pediatrics.

Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing.

Joshua L. Deignan, J. Graham, R. Sankar, 2016, European journal of medical genetics.

Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.

F. Baas, D. Ferriero, J. Graham, 2011, Brain : a journal of neurology.

Chapter 24 – Congenital Muscular Torticollis

J. Graham, 2007 .

Genomic duplication of PTPN11 is an uncommon cause of Noonan syndrome

J. Graham, B. Bejjani, M. Tartaglia, 2009, American journal of medical genetics. Part A.

Short stature syndromes

G. Mortier, J. Graham, D. Rimoin, 2007 .

Ovarian cysts on prenatal MRI.

S. Nemec, J. Graham, D. Prayer, 2012, European journal of radiology.

Kilnefelter Syndrome and Its Variants: An Update and Review for the Primary Pediatrician

J. Graham, J. Visootsak, M. Aylstock, 2001, Clinical pediatrics.

Clinical and molecular characterization of patients with distal 11q deletions.

G. Evans, J. Graham, O. Jones, 1995, American journal of human genetics.

Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations

A. Guttmacher, L. Biesecker, J. Graham, 2001, Human Genetics.

Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy.

J. Graham, A. Raams, W. Kleijer, 2001, American journal of human genetics.

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.

Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

Nikita R. Dsouza, Magalie S Leduc, J. Graham, 2022, Genome Medicine.

Advances in Hirschsprung Disease Genetics and Treatment Strategies

J. Graham, P. Frykman, S. Short, 2014, Clinical pediatrics.

Cystic hamartomata of lung and kidney: a spectrum of developmental abnormalities.

J. Graham, J. Beckwith, P. Sprague, 1987, American journal of medical genetics.

Current concepts in ankle arthroscopy.

J. Graham, C. Baker, 1993, Orthopedics.

Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A

E. Zackai, S. Robertson, J. Graham, 2012, European Journal of Human Genetics.

Prader-Willi Syndrome: An Update and Review for the Primary Pediatrician

J. Graham, J. Visootsak, S. Dills, 2007, Clinical pediatrics.

Loss-of-function mutations in RAB18 cause Warburg micro syndrome.

Mark T. Handley, J. Graham, F. Müller, 2011, American journal of human genetics.

Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3.

E. Jabs, J. Graham, W. Wilcox, 2001, American journal of medical genetics.

FARS2 mutations presenting with pure spastic paraplegia and lesions of the dentate nuclei

N. Salamon, J. Graham, T. Pierson, 2018, Annals of clinical and translational neurology.

Genetics of common malformations.

R. Hennekam, J. Graham, 2014, European journal of medical genetics.

Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation.

R. Weksberg, L. Biesecker, J. Mulliken, 1999, American journal of medical genetics.

Chapter 47 – Fetal Akinesia Sequence

J. Graham, 2007 .

Congenital diaphragmatic hernia in the Brachmann-de Lange syndrome.

C. Williams, J. Graham, J. Carey, 1993, American journal of medical genetics.

Case report and delineation of the congenital hypothalamic hamartoblastoma syndrome (Pallister-Hall syndrome).

J. Graham, M. Cohen, J. Fratkin, 1989, American journal of medical genetics.

Further clinical delineation of microcephaly‐capillary malformation syndrome

J. Graham, F. Alkuraya, M. Carter, 2022, American journal of medical genetics. Part A.

Pallister-Hall syndrome.

L. Biesecker, J. Graham, 1996, Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery.

Pallister-Hall syndrome.

L. Biesecker, J. Graham, 1996, Journal of medical genetics.

Diaphanospondylodysostosis: Six new cases and exclusion of the candidate genes, PAX1 and MEOX1

J. Graham, D. Rimoin, C. Curry, 2007, American journal of medical genetics. Part A.

Broad phenotypic spectrum caused by an identical heterozygous CDMP‐1 mutation in three unrelated families

J. Graham, D. Rimoin, M. Warman, 2002, American journal of medical genetics. Part A.

The mutational spectrum of brachydactyly type C.

L. Singh, J. Graham, W. Newman, 2002, American journal of medical genetics.

Multigene deletions on chromosome 20q13.13‐q13.2 including SALL4 result in an expanded phenotype of Okihiro syndrome plus developmental delay

M. Bamshad, J. Graham, J. Kohlhase, 2007, Human mutation.

Duplication of 17p13.3 associated with an unclassified type of metaphyseal dysplasia

J. Graham, P. Pitukcheewanont, Erin M Shih, 2016 .

Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy

Stephanie E. Vallee, E. Zackai, A. Battaglia, 2019, American journal of medical genetics. Part A.

Tentative Evidence of Y-linked Statural Gene(s)

J. Graham, D. W. Smith, R. Marokus, 1985, Clinical pediatrics.

Clinical features and management issues in Mowat–Wilson syndrome

J. Graham, L. Hudgins, Kimberly M Barr, 2006, American journal of medical genetics. Part A.

Expanding our knowledge of conditions associated with the ASXL gene family

J. Graham, Bianca E Russell, Bianca E. Russell, 2013, Genome Medicine.

A comparison of intravenous and intramuscular magnesium sulfate regimens in preeclampsia.

J. Graham, B. Sibai, J. Mccubbin, 1984, American journal of obstetrics and gynecology.

The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients

K. Nathanson, J. Graham, T. Pierson, 2019, American journal of medical genetics. Part C, Seminars in medical genetics.

Gene-environment interactions in rare diseases that include common birth defects.

G. Shaw, J. Graham, 2005, Birth defects research. Part A, Clinical and molecular teratology.

Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletions

J. Belmont, J. Towbin, S. Lalani, 2003, American journal of medical genetics. Part A.

Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology

H. Hakonarson, M. Bamshad, H. Firth, 2022, HGG advances.

High‐Resolution genomic arrays identify CNVs that phenocopy the chromosome 22q11.2 deletion syndrome

E. Rappaport, J. Graham, B. Emanuel, 2011, Human mutation.

Microphthalmia and chorioretinal lesions in a girl with an Xp22.2-pter deletion and partial 3p trisomy: clinical observations relevant to Aicardi syndrome gene localization.

J. Graham, B. Emanuel, R. Packer, 1990, American journal of medical genetics.

Megalencephaly‐capillary malformation (MCAP) and megalencephaly‐polydactyly‐polymicrogyria‐hydrocephalus (MPPH) syndromes: Two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis

J. Graham, D. Lev, K. Gripp, 2012, American journal of medical genetics. Part A.

GLUT1 deficiency syndrome as a cause of encephalopathy that includes cognitive disability, treatment-resistant infantile epilepsy and a complex movement disorder.

J. Graham, 2012, European journal of medical genetics.

A cluster of Pallister-Hall syndrome cases, (congenital hypothalamic hamartoblastoma syndrome).

J. Graham, J. Fratkin, P. Spiegel, 1986, American journal of medical genetics. Supplement.

Penile biometry on prenatal magnetic resonance imaging

S. Nemec, C. Krestan, J. Graham, 2012, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Blistering Skin Disorders in the Neonate

J. Graham, Lauren P. Rimoin, 2012, Clinical pediatrics.

Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance

J. Rosenfeld, J. Barber, J. Graham, 2015, American journal of medical genetics. Part A.

Osteogenesis imperfecta. The position of substitution for glycine by cysteine in the triple helical domain of the pro alpha 1(I) chains of type I collagen determines the clinical phenotype.

P. Byers, J. Graham, D. Eyre, 1989, The Journal of clinical investigation.

Diagnosis and management of infantile marfan syndrome.

F. Bieber, J. Graham, R. Pyeritz, 1990, Pediatrics.

Contribution of clinical teratologists and geneticists to the evaluation of the etiology of congenital malformations alleged to be caused by environmental agents: ionizing radiation, electromagnetic fields, microwaves, radionuclides, and ultrasound.

R. Brent, J. Graham, K. Jones, 1999, Teratology.

Severe cleidocranial dysplasia and hypophosphatasia in a child with microdeletion of the C‐terminal region of RUNX2

J. Graham, D. Rimoin, J. Peeden, 2010, American journal of medical genetics. Part A.

The spectrum of mutations in UBE3A causing Angelman syndrome.

D. Ledbetter, J. Sutcliffe, S. Christian, 1999, Human molecular genetics.

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

Rebecca C. Spillmann, C. Cytrynbaum, R. Weksberg, 2022, American journal of human genetics.

Cole-Hughes macrocephaly syndrome and associated autistic manifestations.

J. Graham, T. Cole, S. Naqvi, 2000, American journal of medical genetics.

A recognizable syndrome within CHARGE association: Hall-Hittner syndrome.

J. Graham, 2001, American journal of medical genetics.

A dyadic approach to the delineation of diagnostic entities in clinical genomics.

Marc S. Williams, E. Zackai, C. Haldeman-Englert, 2021, American journal of human genetics.

22q13 Deletion Syndrome: An Update and Review for the Primary Pediatrician

J. Graham, J. Havens, J. Visootsak, 2004, Clinical pediatrics.

HIST1H1E heterozygous protein‐truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals

C. Cytrynbaum, R. Weksberg, J. Graham, 2019, American journal of medical genetics. Part A.

heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt : A study to clarify the HIST 1 H 1 E syndrome phenotype in 30 individuals

C. Cytrynbaum, R. Weksberg, J. Graham, 2019 .

Transient leukemia with trisomy 21: description of a case and review of the literature.

J. Korenberg, J. Graham, N. Fischel‐Ghodsian, 1995, American journal of medical genetics.

Independent dysmorphology evaluations at birth and 4 years of age for children exposed to varying amounts of alcohol in utero.

H. Barr, A. Streissguth, J. Graham, 1988, Pediatrics.

De novo exon 1 missense mutations of SKI and Shprintzen‐Goldberg syndrome: Two new cases and a clinical review

J. Graham, A. Innes, J. Parboosingh, 2014, American journal of medical genetics. Part A.

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

J. Shendure, B. O’Roak, C. Cytrynbaum, 2012, Nature Genetics.

Chapter 10 – Joint Dislocation: General

J. Graham, 2007 .

Central nervous system malformations in the CHARGE association.

J. Graham, A. Lin, J. Siebert, 1990, American journal of medical genetics.

Spontaneous intracranial hypotension secondary to congenital spinal dural ectasia and genetic mosaicism for tetrasomy 10p: illustrative case

J. Graham, W. Schievink, Peyton L. Nisson, 2021, Journal of neurosurgery. Case lessons.

Approach to overgrowth syndromes in the genome era

J. Graham, W. Dobyns, K. Tatton-Brown, 2019, American journal of medical genetics. Part C, Seminars in medical genetics.

Insight into the Ontogeny of GnRH Neurons from Patients Born Without a Nose.

Janice S. Lee, J. Graham, W. Crowley, 2020, The Journal of clinical endocrinology and metabolism.

Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes : Robust Phenotype Prediction from the Type and Position of GLI 3 Mutations

E. Zackai, L. Biesecker, J. Graham, 2005 .

A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity

W. Chung, D. Segal, J. Graham, 2019, neurogenetics.

Rett Syndrome

J. Graham, S. Braddock, Barbara A. Braddock, 1993, Clinical pediatrics.

47,XXY (KLINEFELTER SYNDROME) AND RELATED X AND Y CHROMOSOMAL CONDITIONS

J. Graham, D. Counts, C. Samango-Sprouse, 2021 .

19q13.32 microdeletion syndrome: three new cases.

J. Rosenfeld, C. Schwartz, J. Graham, 2014, European journal of medical genetics.

2q23.1 microdeletion of the MBD5 gene in a female with seizures, developmental delay and distinct dysmorphic features.

J. Graham, Grace J Noh, Grace J. Noh, 2012, European journal of medical genetics.

2q23.1 microdeletion of the MBD5 gene in a female with seizures, developmental delay and distinct dysmorphic features.

J. Graham, Grace J Noh, Grace J. Noh, 2012, European journal of medical genetics.

Preaxial hallucal polydactyly as a marker for diabetic embryopathy.

K. Coleman, J. Graham, L. Hudgins, 2009, Birth defects research. Part A, Clinical and molecular teratology.

The adult phenotype in Costello syndrome

C. Cytrynbaum, R. Weksberg, J. Graham, 2005, American journal of medical genetics. Part A.

Chapter 36 – Vertex Craniotabes

J. Graham, 2007 .

The effects of alcohol consumption during pregnancy.

J. Graham, 1985, Progress in clinical and biological research.

Chapter 32 – Metopic Craniosynostosis

J. Graham, 2007 .

Diagnosis and Management of Extensive Vertex Birth Molding

J. Graham, Ajay Kumar, 2006, Clinical pediatrics.

Deletion of 20p 11.23----pter with normal growth hormone-releasing hormone genes.

S. Pulst, J. Korenberg, J. Graham, 1991, American journal of medical genetics.

A syndrome of facial dysmorphism, cubital pterygium, short distal phalanges, swan neck deformity of fingers, and scoliosis

Hitesh Shah, J. Graham, S. Phadke, 2014, American journal of medical genetics. Part A.

De novo microdeletion of Xp11.3 exclusively encompassing the monoamine oxidase A and B genes in a male infant with episodic hypotonia: a genomics approach to personalized medicine.

J. Graham, J. Shih, Ryan E O'Leary, 2012, European journal of medical genetics.

Chapter 37 – Anterior Fontanelle Bone

J. Graham, 2007 .

MICRO syndrome: An entity distinct from COFS syndrome

E. Roeder, R. Hennekam, J. Graham, 2004, American journal of medical genetics. Part A.

Report from the workshop on Pallister-Hall syndrome and related phenotypes.

L. Biesecker, J. Graham, A. Verloes, 1996, American journal of medical genetics.

Letters to the Editor

J. Graham, 1982, Pediatrics.

Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome

R. Stevenson, C. Schwartz, M. Lyons, 2008, Journal of Medical Genetics.

Compromise of the spinal canal in Proteus syndrome.

J. Graham, M. Cohen, F. Skovby, 1993, American journal of medical genetics.

The morphogenesis of wormian bones: A study of craniosynostosis and purposeful cranial deformation

J. Graham, M. Cunningham, P. Sanchez-Lara, 2007, American journal of medical genetics. Part A.

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.

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

Martin, J. Shendure, Martin Kircher, 2016, JCI insight.

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

J. Shendure, Martin Kircher, K. Devriendt, 2016, JCI insight.

PIK3CA-Related Segmental Overgrowth

Ghayda M. Mirzaa, William B Dobyns, J. Graham, 2013 .

Down syndrome--an update and review for the primary pediatrician.

J. Graham, W. Cooley, Cooley Wc, 1991, Clinical pediatrics.

Congenital Cysts, Sinuses and Fistulae

G. Scadding, J. Graham, P. Bull, 2007 .

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

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

Phenotypic variation in LADD syndrome.

M. Pembrey, J. Graham, E. Thompson, 1985, Journal of medical genetics.

Pathologic features of the CHARGE association: support for involvement of the neural crest.

J. Graham, J. Siebert, C. Macdonald, 1985, Teratology.

31 – Congenital Anomalies of the Skull

J. Graham, P. Sánchez, 2017 .

Chapter 13 – Dislocation of the Radial Head

J. Graham, 2007 .

An epidemiological analysis of CHARGE syndrome: Preliminary results from a Canadian study

J. Graham, I. Smith, C. Prasad, 2005, American journal of medical genetics. Part A.

PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.

C Eng, K. Lunetta, C. Romano, 1999, Human molecular genetics.

Chapter 39 – Aplasia Cutis Congenita: Scalp Vertex Cutis Aplasia, Temporal Triangular Alopecia

J. Graham, 2007 .

Genetic syndromes with evidence of immune deficiency

J. Graham, J. Ming, 2020, Stiehm's Immune Deficiencies.

Immunodeficiency as a component of recognizable syndromes.

J. Graham, E. Stiehm, J. Ming, 1996, 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.

Surgical management of cerebellar tonsillar herniation in three patients with macrocephaly-cutis marmorata telangiectatica congenita. Report of three cases.

J. Graham, R. Conway, M. Danielpour, 2007, Journal of neurosurgery.

Elements of morphology: Standard terminology for the periorbital region

J. Opitz, J. Graham, S. Cassidy, 2009, American journal of medical genetics. Part A.

GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome

L. Biesecker, J. Graham, Seongman Kang, 1997, Nature Genetics.

Chapter 48 – Abdominal Pregnancy (Extrauterine Pregnancy)

J. Graham, 2007 .

Limb reduction anomalies and early in utero limb compression.

J. Graham, M. Miller, M. Stephan, 1980, The Journal of pediatrics.

P63 mutations are not a major cause of non-syndromic split hand/foot malformation

C. T. Morgan, R. Stevenson, C. Schwartz, 2003, Journal of medical genetics.

Disseminated herpes zoster in a pregnant woman positive for human immunodeficiency virus.

J. Graham, M. Monga, J. Petrozza, 2008, American journal of perinatology.

Teratogen update: gestational effects of maternal hyperthermia due to febrile illnesses and resultant patterns of defects in humans.

J. Graham, M. Edwards, M. Edwards, 1998, Teratology.

Gentamicin Levels in Pregnant Women with Pyelonephritis

J. Graham, B. Oshiro, J. D. Blanco, 1994, American journal of perinatology.

Limited-spectrum (first-generation) cephalosporins.

J. Graham, B. Oshiro, J. D. Blanco, 1992, Obstetrics and gynecology clinics of North America.

Quantitative calibration and use of DNA probes for investigating chromosome abnormalities in the Prader-Willi syndrome.

R. Neve, J. Graham, S. Ringer, 1989, American journal of medical genetics.

Restriction fragment length polymorphisms within proximal 15q and their use in molecular cytogenetics and the Prader-Willi syndrome.

S. Latt, J. Graham, K. Glatt, 1989, American journal of medical genetics.

LINKAGE ANALYSIS IN X-LINKED OCULAR ALBINISM

J. Graham, R. King, B. Demartinville, 1987, Pediatric Research.

Urethral obstruction sequence and lower limb deficiency: Evidence for the vascular disruption hypothesis

J. Graham, J. Carey, K. Aleck, 1993, Pediatric Nephrology.

Klinefelter syndrome and other sex chromosomal aneuploidies

J. Graham, J. Visootsak, Jeannie Visootsak, 2006, Orphanet journal of rare diseases.

Mixoploidy in humans: two surviving cases of diploid-tetraploid mixoploidy and comparison with diploid-triploid mixoploidy.

J. Graham, J. P. Park, M. Edwards, 1994, American journal of medical genetics.

Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion.

S. Latt, J. Opitz, J. Graham, 1989, American journal of medical genetics.

Abnormalities of the penis in utero – hypospadias on fetal MRI

S. Nemec, C. Krestan, J. Graham, 2011, Journal of perinatal medicine.

Chapter 1 – Clinical Approach to Deformation Problems: Malformations, Deformations, Disruptions, and Dysplasias

J. Graham, 2007 .

Causes of limb reduction defects: the contribution of fetal constraint and/or vascular disruption.

J. Graham, 1986, Clinics in perinatology.

A previously unreported mutation in a Currarino syndrome kindred

J. Graham, M. Friez, R. C. Rogers, 2006, American journal of medical genetics. Part A.

David W. Smith, J. Graham, M. Miller, 1981, The Journal of pediatrics.

Tumor disease and associated congenital abnormalities on prenatal MRI.

S. Nemec, J. Graham, D. Prayer, 2012, European journal of radiology.

Klinefelter syndrome: Expanding the phenotype and identifying new research directions

D. Geschwind, H. Willard, K. Boone, 2003, Genetics in Medicine.

Social function in multiple X and Y chromosome disorders: XXY, XYY, XXYY, XXXY.

J. Graham, J. Visootsak, 2009, Developmental disabilities research reviews.

Endotoxin, interleukin-1β, interleukin-6, or tumor necrosis factor-α do not acutely stimulate isolated murine myometrial contractile activity

J. Graham, M. Monga, N. Eriksen, 1993 .

IN VITRO SUSCEPTIBILITY TO TEMAFLOXACIN IN FEMALE GENITAL TRACT BACTEROIDES ISOLATES

J. Graham, B. Oshiro, J. D. Blanco, 1993 .

Incidence of fetal alcohol syndrome and prevalence of alcohol-related neurodevelopmental disorder.

F L Bookstein, P D Sampson, F. Bookstein, 1997, Teratology.

Collagen, genes and the skeletal dysplasias on the edge of a new era: a review and update.

J. Graham, D. Rimoin, R. Lachman, 1992, European journal of radiology.

Screening for hepatitis B among pregnant patients in a rural population.

J. Graham, J. D. Blanco, K. Magee, 1992, Southern medical journal.

A KCNB1 gain of function variant causes developmental delay and speech apraxia but not seizures

J. Graham, A. Mathie, E. Veale, 2022, Frontiers in Pharmacology.

Clinical and behavioral characteristics in FG syndrome.

C. Schwartz, J. Graham, R. C. Rogers, 1999, American journal of medical genetics.

Fetal akinesia/hypokinesia sequence: Prenatal diagnosis and intra‐familial variability

J. Graham, D. Rimoin, C. Bacino, 1993, Prenatal diagnosis.

Prenatal diagnosis of a new syndrome: Holoprosencephaly with hypokinesia

J. Graham, R. Morse, S. K. Sargent, 1987, Prenatal diagnosis.

CHARGE Association: An Update and Review for the Primary Pediatrician

Marc S. Williams, J. Graham, R. Pagon, 1998, Clinical pediatrics.

Terminal microdeletions of 13q34 chromosome region in patients with intellectual disability: Delineation of an emerging new microdeletion syndrome.

J. Graham, T. Tenne, M. Liberman, 2016, Molecular genetics and metabolism.

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.

Joshua L. Deignan, T. Bourgeron, R. Delorme, 2019, American journal of human genetics.

De novo copy number variants and parental age: Is there an association?

J. Rosenfeld, J. Graham, Xiuqing Guo, 2019, European journal of medical genetics.

New genetic testing in prenatal diagnosis.

J. Graham, N. Babkina, 2014, Seminars in fetal & neonatal medicine.

The NuRD complex and macrocephaly associated neurodevelopmental disorders

Juan I. Young, J. Graham, T. Pierson, 2019, American journal of medical genetics. Part C, Seminars in medical genetics.

A de novo interstitial deletion of chromosome 6 (q22.2q23.1)

J. Graham, Jonathan P. Park, S. Berg, 1988, Clinical genetics.

Novel de novo SPOCK1 mutation in a proband with developmental delay, microcephaly and agenesis of corpus callosum.

E. Thorland, J. Graham, S. Kirmani, 2014, European journal of medical genetics.

Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.

Leif E. Peterson, L. D. White, R. Gibbs, 2006, American journal of human genetics.

Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis

Andrea Superti-Furga, Sebastian Wachsmann-Hogiu, Judith Allanson, 2004, Nature Genetics.

Chapter 49 – Early Embryonic Compression or Disruption: Tubal Ectopic Pregnancy, Early Uterine Compression, Early Amnion Rupture

J. Graham, 2007 .

Extrinsic Factors Influencing Fetal Deformations and Intrauterine Growth Restriction

J. Graham, P. Sanchez-Lara, I. Wadhawan, 2012, Journal of pregnancy.

Chapter 21 – Nose Deformation

J. Graham, 2007 .

Chapter 45 – Small Uterine Cavity Deformation: Bicornuate or Myomatous Uterus

J. Graham, 2007 .

Posterior nuchal cystic hygroma.

J. Graham, M. Edwards, 1990, Clinics in perinatology.

Dominantly inherited pterygium colli.

J. Graham, D. W. Smith, 1981, The Journal of pediatrics.

A study of 534 fetal pathology cases from prenatal diagnosis referrals analyzed from 1989 through 2000

J. Graham, P. Sanchez-Lara, S. Pepkowitz, 2007, American journal of medical genetics. Part A.

Nuchal cystic hygroma in a fetus with presumed Roberts syndrome.

J. Graham, T. Shepard, T. D. Stephens, 1983, American journal of medical genetics.

Angelman syndrome: three molecular classes identified with chromosome 15q11q13-specific DNA markers.

J. Graham, K. Glatt, J. Knoll, 1990, American journal of human genetics.

Enhanced visualization of soft tissues in the study of aborted fetuses through the use of xeroradiography.

J. Graham, D. Hoefnagel, H. C. Crow, 1984, Teratology.

Infants of diabetic mothers are at increased risk for the oculo-auriculo-vertebral sequence: A case-based and case-control approach.

J. Graham, M. Martínez‐Frías, Raymond Wang, 2002, The Journal of pediatrics.

Coffin–Siris Syndrome and the BAF Complex: Genotype–Phenotype Study in 63 Patients

A. V. Vulto-van Silfhout, A. Hoischen, D. Horn, 2013, Human mutation.

Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes

J. Graham, W. Dobyns, P. Sanchez-Lara, 2021, American journal of medical genetics. Part A.

Further delineation of Kabuki syndrome in 48 well‐defined new individuals

Marc S. Williams, E. Zackai, R. Hennekam, 2005, American journal of medical genetics. Part A.

Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms

Jill A. Madden, E. Roeder, A. Fatemi, 2021, Molecular genetics & genomic medicine.

Teschler-Nicola/Killian syndrome: a case report.

J. Graham, M. Destrempes, R. Greenstein, 1983, The Journal of clinical dysmorphology.

Genetic syndromes associated with immunodeficiency

J. Graham, E. Stiehm, J. Ming, 2002 .

Congenital gastric teratoma in Wiedemann-Beckwith syndrome.

J. Korenberg, J. Graham, L. Platt, 1991, American journal of medical genetics.

When moments matter: Finding answers with rapid exome sequencing

J. Graham, L. Randolph, E. Palmaer, 2019, Molecular genetics & genomic medicine.

Syndromic ear anomalies and renal ultrasounds.

J. Graham, D. Earl, J M Graham, 2001, Pediatrics.

Localization of the gene encoding the GABAA receptor beta 3 subunit to the Angelman/Prader-Willi region of human chromosome 15.

E. Kirkness, J. Venter, D. Ward, 1991, American journal of human genetics.

Mutation analysis of UBE3A in Angelman syndrome patients.

J. Graham, R. Pagon, A. Moncla, 1998, American journal of human genetics.

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

Ryan L. Collins, D. MacArthur, Daisuke Sato, 2017, Nature Genetics.

De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures

J. Graham, Q. Waisfisz, D. Wieczorek, 2019, Brain : a journal of neurology.

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

Marni J. Falk, E. Zackai, C. Cytrynbaum, 2021, American journal of medical genetics. Part A.

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.

Male genital abnormalities in intrauterine growth restriction

S. Nemec, J. Graham, D. Prayer, 2012, Prenatal diagnosis.

Mutations in STAMBP, encoding a deubiquitinating enzyme, cause Microcephaly-Capillary Malformation syndrome

B. Frey, Leo J. Lee, Soma Das, 2013, Nature Genetics.

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

R. Hennekam, L. Biesecker, J. Graham, 2010, Human mutation.

De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy

S. Nelson, J. Graham, J. Martinez-Agosto, 2018, Genetics in Medicine.

IRF2BPL Is Associated with Neurological Phenotypes.

Henry J. Lin, Rebecca C. Spillmann, Michael F. Wangler, 2018, American journal of human genetics.

Longitudinal observations on 15 children with Wiedemann-Beckwith syndrome.

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

Triploidy: Pregnancy complications and clinical findings in seven cases

J. Graham, Jonathan P. Park, H. C. Crow, 1989, Prenatal diagnosis.

Prenatal diagnosis and dysmorphic findings in mosaic trisomy 16

J. Graham, D. Carlson, N. Fischel‐Ghodsian, 1994, Prenatal diagnosis.

Beckwith-Wiedemann Syndrome

J. Graham, E. Y. Weng, Geert Mortier, 1995, Clinical pediatrics.

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

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

Diploid-triploid mixoploidy: clinical and cytogenetic aspects.

J. Graham, H. Hoehn, M. S. Lin, 1981, Pediatrics.

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.

Trisomy 22 mosaicism syndrome and Ullrich-Turner stigmata.

J. Graham, W. R. Breg, W. Wertelecki, 1986, American journal of medical genetics.

Abnormal Body Size and Proportion

J. Graham, D. Rimoin, D. Burkardt, 2013 .

Clinical approach to human structural defects.

J. Graham, 1991, Seminars in perinatology.

The Clinical Syndrome of Triploidy

J. Graham, W. Wertelecki, F. Sergovich, 1976, Obstetrics and gynecology.

MED12 related disorders

C. Schwartz, J. Graham, 2013, American journal of medical genetics. Part A.

Discovery of a previously unrecognized microdeletion syndrome of 16p11.2–p12.2

U. Surti, L. Shaffer, E. Zackai, 2007, Nature Genetics.

Chapter 38 – Parietal Foramina

J. Graham, 2007 .

Jejunal Atresia Associated with Cafergot® Ingestion During Pregnancy

J. Graham, D. Hoefnagel, M. Marín‐padilla, 1983, Clinical pediatrics.

Exome Sequencing Identifies PDE 4 D Mutations in Acrodysostosis

S. Nelson, J. Graham, D. Rimoin, 2012 .

Trisomy 8 mosaicism in chorionic villus sampling: Case report and counselling issues

J. Graham, L. Platt, R. Schreck, 1994, Prenatal diagnosis.

Blaschkolinear skin pigmentary variation due to trisomy 7 mosaicism.

J. Graham, J. Kreutzman, R. Schreck, 2000, American journal of medical genetics.

Spectrum of dolichospondylic dysplasia: two new patients with distinctive findings.

J. Graham, D. Rimoin, C. Curry, 2002, American journal of medical genetics.

Expanding the phenotype of ASXL3‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3

J. Graham, F. Alkuraya, N. Hauser, 2021, American journal of medical genetics. Part A.

Beckwith-Wiedemann SyndromeAn Update and Review for the Primary Pediatrician

G. Mortier, J. Graham, E. Y. Weng, 1995 .

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.

Neurofibromatosis Type 1—An Update and Review for the Primary Pediatrician

J. Graham, V. Riccardi, Y. Goldberg, 1996, Clinical pediatrics.

A 785kb deletion of 3p14.1p13, including the FOXP1 gene, associated with speech delay, contractures, hypertonia and blepharophimosis.

Andrew Spencer, J. Graham, D. Rimoin, 2009, European journal of medical genetics.

Sagittal craniostenosis: fetal head constraint as one possible cause.

J. Graham, D. W. Smith, M. deSaxe, 1979, The Journal of pediatrics.

Chapter 34 – Multiple Sutural Craniosynostosis

J. Graham, 2007 .

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.

Metopic craniostenosis as a consequence of fetal head constraint: two interesting experiments of nature.

J. Graham, D. W. Smith, D. W. Smith, 1980, Pediatrics.

Chapter 31 – Coronal Craniosynostosis

J. Graham, 2007 .

Common Syndromes and Management Issues for Primary Care Physicians

J. Graham, W. Cooley, 1991 .

A case of severe TBCE‐negative hypoparathyroidism‐retardation‐dysmorphism syndrome: Case report and literature review

J. Graham, P. Pitukcheewanont, S. Issaranggoon Na Ayuthaya, 2018, American journal of medical genetics. Part A.

Chapter 40 – Cephalohematoma

J. Graham, 2007 .

Update on the gestational effects of maternal hyperthermia

J. Graham, 2020, Birth defects research.

Clinical and Molecular Characterization of Patients with Distal I I q Deletions

G. Evans, J. Graham, J. Fryns, 2007 .

Marshall J. Edwards: discoverer of maternal hyperthermia as a human teratogen.

J. Graham, 2005, Birth defects research. Part A, Clinical and molecular teratology.

Parasitic conjoined twins, two cases, and their relation to limb morphogenesis.

J. Graham, J. Siebert, J. Beckwith, 1982, Teratology.

Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

Marc S. Williams, J. Shendure, D. Nickerson, 2014, American journal of human genetics.

Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature

J. Graham, K. Bowling, A. Afenjar, 2019, Genetics in Medicine.

Pregnancy and Birth Outcomes among Women with Idiopathic Thrombocytopenic Purpura

J. Graham, A. Cantor, A. Slavotinek, 2016, Journal of pregnancy.

Chromosome 22q1l Deletion Syndrome: An Update and Review for the Primary Pediatrician

J. Graham, J. Thomas, 1997, Clinical pediatrics.

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Matthew H. Brush, David R. Murdock, Jean M. Davidson, 2019, Biological psychiatry.

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.

Meghan C Towne, Carol J. Saunders, B. V. van Bon, 2021, American journal of human genetics.

De novo and biallelic DEAF1 variants cause a phenotypic spectrum

H. Mefford, J. Graham, T. Pierson, 2019, Genetics in Medicine.

Exome sequencing identifies novel mutations in C5orf42 in patients with Joubert syndrome with oral–facial–digital anomalies

Julie C. Sapp, L. Biesecker, J. Graham, 2015, Human Genome Variation.

Mutations in ACTL 6 B cause neurodevelopmental deficits and epilepsy and lead to 1 loss of dendrites in human neurons 2 3

Anne, Fassi, Joshua L. Deignan, 2019 .

De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy

S. Nelson, J. Graham, J. Martinez-Agosto, 2018, Genetics in Medicine.

Oral and written language abilities of XXY boys: implications for anticipatory guidance.

J. Graham, R. Stark, J M Graham, 1988, Pediatrics.

Distinctive phenotype in 9 patients with deletion of chromosome 1q24‐q25

J. Rosenfeld, E. Zackai, J. Graham, 2011, American journal of medical genetics. Part A.

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.

FG syndrome: report of three new families with linkage to Xq12-q22.1.

C. Schwartz, J. Graham, K. Corning, 1998, American journal of medical genetics.

Further delineation of van den Ende‐Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome

D. Nickerson, M. Bamshad, J. Graham, 2021, American journal of medical genetics. Part A.

Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and Genotype–Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome

Mark T. Handley, I. Jackson, I. Glass, 2013, Human mutation.

Bosma Arhinia Microphthalmia Syndrome

J. Graham, 1999, American journal of medical genetics. Part A.

Review of genetic and environmental factors leading to hypospadias.

J. Graham, Erin M. Shih, 2014, European journal of medical genetics.

CHARGE syndrome from birth to adulthood: An individual reported on from 0 to 33 years

J. Graham, C. Prasad, K. Blake, 2005, American journal of medical genetics. Part A.

Behavioral features of CHARGE syndrome (Hall–Hittner syndrome) comparison with Down syndrome, Prader–Willi syndrome, and Williams syndrome

J. Graham, J. Visootsak, E. Dykens, 2005, American journal of medical genetics. Part A.

GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder

Juan I. Young, Rebecca C. Spillmann, S. Nelson, 2020, Genetics in Medicine.

Association of Clinical Intra-Amniotic Infection and Meconium

J. Graham, T. Wen, N. Eriksen, 1993, American journal of perinatology.

A tribute to Bryan D. Hall: Festschrift 2003

J. Graham, C. Curry, M. Golabi, 2003, American journal of medical genetics. Part A.

Clinical Report Bosma Arhinia Microphthalmia Syndrome

J. Graham, John Lee, 2006 .

Laryngeal Webs and Subglottic Hemangiomas

G. Scadding, J. Graham, P. Bull, 2007 .

A standard of care for individuals with PIK3CA‐related disorders: An international expert consensus statement

J. Clayton-Smith, L. Biesecker, J. Graham, 2021, Clinical genetics.

EXIT – Antenatal (Pre-natal) Diagnoses and Management

G. Scadding, J. Graham, P. Bull, 2007 .

Congenital and Acquired Tracheal Stenosis in Children

G. Scadding, J. Graham, P. Bull, 2007 .

Clinical and behavioral features of patients with Borjeson-Forssman-Lehmann syndrome with mutations in PHF6.

J. Graham, S. White, R. Szeftel, 2004, The Journal of pediatrics.

Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene.

G. Mortier, E. Jabs, J. Graham, 1998, American journal of medical genetics.

Agnathia, situs inversus, and associated malformations.

J. Graham, R. Pauli, M. Barr, 1981, Teratology.

Surgical correction of incomplete cryptophthalmos in Fraser syndrome.

Y. Rabinowitz, J. Graham, N. Shorr, 1997, American journal of ophthalmology.

Fragile X Syndrome: An Update and Review for the Primary Pediatrician

Stephen T Warren, S. Warren, J. Graham, 2005, Clinical pediatrics.

Parietal craniotabes in the neonate: its origin and significance.

J. Graham, D. W. Smith, 1979, Jornal de Pediatria.

Chapter 19 – Pectus Excavatum and Pectus Carinatum

J. Graham, 2007 .

FSHD type 2 and Bosma arhinia microphthalmia syndrome

S. Tapscott, J. Graham, H. Brand, 2018, Neurology.

Chapter 14 – Facial Palsy

J. Graham, 2007 .

Williams-Beuren Syndrome: An Update and Review for the Primary Physician

J. Graham, A. Lashkari, Andrew K. Smith, 1999, Clinical pediatrics.

Chapter 35 – Vertex Birth Molding

John M. Graham, J. Graham, 2007 .

Evaluation of neonates born with intrauterine growth retardation: review and practice guidelines.

J. Graham, A L Alkalay, J M Graham, 1998, Journal of perinatology : official journal of the California Perinatal Association.

Chapter 22 – External Ears

J. Graham, 2007 .

Evaluation and Treatment of the Deformed and Malformed Auricle

J. Graham, R. Ruder, 1996, La Clinica pediatrica.

Diagnosis and Management Strategies in Congenital Middle and External Ear Anomalies

G. Scadding, J. Graham, P. Bull, 2007 .

Studies of type I collagen in osteogenesis imperfecta.

J. Graham, M. Edwards, 1990, The Journal of pediatrics.

Chapter 41 – Wormian Bones

J. Graham, 2007 .

Tonsils and Adenoids

G. Scadding, J. Graham, P. Bull, 2007 .

Congenital hydranencephaly/porencephaly due to vascular disruption in monozygotic twins.

J. Graham, J. Jung, D. W. Smith, 1984, Pediatrics.

Correction of congenital auricular deformities by splinting in the neonatal period.

J. Graham, F. Brown, L. Colen, 1986, Pediatrics.

Linkage mapping and phenotypic analysis of autosomal dominant Pallister-Hall syndrome.

A. Schäffer, E. Green, L. Biesecker, 1997, Journal of medical genetics.

Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2

J. Fish, David T. Miller, J. Graham, 2020, Clinical genetics.

Central nervous system and facial defects associated with maternal hyperthermia at four to 14 weeks' gestation.

J. Graham, D. W. Smith, H. Pleet, 1981, Pediatrics.

Midline defects in FG syndrome: does tethered spinal cord contribute to the phenotype?

J. Graham, J. Visootsak, M. Danielpour, 2005, The Journal of pediatrics.

Chapter 26 – Infant Sleeping Position and Sudden Infant Death Syndrome

J. Graham, 2007 .

Heat- and Alcohol-Induced Neural Tube Defects: Interactions with Folate in a Golden Hamster Model

J. Graham, V. Ferm, 1985, Pediatric Research.

Ring chromosome 12.

J. Graham, J. P. Park, D. Wurster-Hill, 1988, American journal of medical genetics.

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

A. Pagnamenta, Changlian Zhu, T. Strom, 2021, Brain : a journal of neurology.

Psychiatric Illness in a Clinical Sample of Children with Prenatal Alcohol Exposure

J. Graham, M. O’Connor, S. Whaley, 2002, The American journal of drug and alcohol abuse.

IRF2BPL Is Associated with Neurological Phenotypes.

Henry J. Lin, Rebecca C. Spillmann, Michael F. Wangler, 2018, American journal of human genetics.

Radiological findings in Hallermann-Streiff syndrome: report of five cases and a review of the literature.

J. Graham, R. Gorlin, A. Aylsworth, 1991, American journal of medical genetics.

Chapter 7 – Flexible Flatfoot

J. Graham, 2007 .

Chapter 3 – Calcaneovalgus (Pes Planus)

J. Graham, 2007 .

Chapter 42 – Breech Presentation Deformation

J. Graham, 2007 .

Chapter 43 – Transverse Lie Deformation

J. Graham, 2007 .

Chapter 15 – Brachial Plexus Palsy: Erb's Palsy, Klumpke's Palsy, Obstetric Palsy

J. Graham, 2007 .

Chapter 44 – Face and Brow Presentation Deformation

John M. Graham, J. Graham, 2007 .

Chapter 11 – Developmental Dysplasia of the Hip (Congenital Dislocation of the Hip)

J. Graham, 2007 .

Clubfeet and associated abnormalities on fetal magnetic resonance imaging

S. Nemec, J. Graham, D. Prayer, 2012, Prenatal diagnosis.

Chapter 23 – Mandibular Deformation

J. Graham, 2007 .

Chapter 25 – Torticollis‐Plagiocephaly Deformation Sequence: Nonsynostotic or Positional Plagiocephaly

J. Graham, 2007 .

Preaxial ray reduction defects as part of valproic acid embryofetopathy

J. Graham, D. Viskochil, L. Platt, 1993, Prenatal diagnosis.

Chapter 4 – Metatarsus Adductus (Metatarsus Varus)

J. Graham, 2007 .

Non-Cystic Fibrosis-Related Meconium Ileus: GUCY2C-Associated Disease Discovered through Rapid Neonatal Whole-Exome Sequencing.

Jeremy D. Woods, J. Graham, P. Sanchez-Lara, 2019, The Journal of pediatrics.

Congenital muscular torticollis and positional plagiocephaly.

J. Graham, A. Kuo, Sophie Tritasavit, 2014, Pediatrics in review.

Familial Bainbridge‐Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype

J. Graham, T. Pierson, S. Lynch, 2022, American journal of medical genetics. Part A.

Dominantly inherited unilateral terminal transverse defects of the hand (adactylia) in twin sisters and one daughter.

J. Graham, C. Hallowell, F. Brown, 1986, Pediatrics.

van den Ende–Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures: Clinical delineation and recurrence in brothers

J. Graham, B. Pressman, R. Lachman, 2003, American journal of medical genetics. Part A.

Pregnancy Outcome in Swiss-Webster Mice Infected With Chlamydia trachomatis

J. Graham, B. Oshiro, J. D. Blanco, 1994, Infectious diseases in obstetrics and gynecology.

Chapter 20 – Scoliosis

J. Graham, 2007 .

Auditory Investigation: the Scientific and Technological Basis.

John M Graham, J. Graham, 1980 .

Determinants in the morphogenesis of muscle tendon insertions.

J. Graham, J. Siebert, T. D. Stephens, 1982 .

Atelosteogenesis type III: a distinct skeletal dysplasia with features overlapping atelosteogenesis and oto-palato-digital syndrome type II.

J. Graham, D. Rimoin, J. Bodurtha, 1990, American journal of medical genetics.

Behavioral phenotype of sex chromosome aneuploidies: 48,XXYY, 48,XXXY, and 49,XXXXY

J. Graham, J. Visootsak, E. Dykens, 2007, American journal of medical genetics. Part A.

Exclusion of candidate loci and cholesterol biosynthetic abnormalities in familial Pallister-Hall syndrome.

A. Schäffer, J. Graham, S. Kang, 1996, Journal of medical genetics.

Clinical and molecular studies in full trisomy 22: Further delineation of the phenotype and review of the literature. Reply to Dr. Hirschhorn

J. Graham, C. Bacino, 1996 .

A locus for bilateral perisylvian polymicrogyria maps to Xq28.

C. Martin, J. Graham, R. Winter, 2002, American journal of human genetics.

Phenotype–genotype correlations in patients with Marinesco–Sjögren syndrome

J. Graham, W. Wilcox, I. Hansmann, 2014, Clinical genetics.

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

Ellen F. Macnamara, J. Constantino, J. Graham, 2023, Science advances.

Thumb Polydactyly as a Part of the Range of Genetic Expression for Thenar Hypoplasia

J. Graham, F. Brown, B. Hall, 1987, Clinical pediatrics.

J. Graham, Marvin Miller, David W. Smith, 1981 .

Preaxial polydactyly of the foot associated with early amnion rupture: evidence for mechanical teratogenesis?

David W. Smith, J. Graham, M. Higginbottom, 1981, The Journal of pediatrics.

Familial lissencephaly with cleft palate and severe cerebellar hypoplasia

J. Golden, J. Graham, W. Dobyns, 1999 .

Marden-Walker syndrome: case report and review

J. Graham, D. Earl, D. Schweitzer, 2000, Genetics in Medicine.

A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity

D. Segal, J. Graham, M. Shinawi, 2019, neurogenetics.

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.

The achondroplasia gene is not linked to the locus for neurofibromatosis 1 on chromosome 17

S. Pulst, J. Korenberg, J. Graham, 1990, Human Genetics.

Deletion in Blood Mitochondrial DNA in Kearns-Sayre Syndrome

J. Graham, S. Cederbaum, T. Prezant, 1992, Pediatric Research.

Statement of the Public Affairs Committee of the Teratology Society on the fetal alcohol syndrome.

C. Kimmel, H. Buttar, J. Graham, 2002, Teratology.

Familial lissencephaly with cleft palate and severe cerebellar hypoplasia.

J. Golden, J. Graham, W. Dobyns, 1999, American journal of medical genetics.

Morphogenesis: Re: Clinical, natural history, and imaging information on patients included in reports

R. Stevenson, J. Graham, H. Hoyme, 2003, American journal of medical genetics. Part A.

Syndromes associated with immunodeficiency.

J. Graham, E. Stiehm, J. Ming, 1999, Advances in pediatrics.

Johnson–McMillin syndrome, a neuroectodermal syndrome with conductive hearing loss and microtia: Report of a new case

J. Graham, D. Earl, S. Yano, 2003, American journal of medical genetics. Part A.

Chapter 29 – Craniosynostosis: General

J. Graham, 2007 .

Tummy Time is Important

J. Graham, 2006, Clinical pediatrics.

Chapter 27 – Positional Brachycephaly

J. Graham, 2007 .

Manitoba aboriginal kindred with original cerebro-oculo- facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene.

J. Graham, E. Friedberg, L. Meira, 2000, American journal of human genetics.

Carcinoma of the Thyroid

J. Graham, R. Mcwhirter, 1947, Proceedings of the Royal Society of Medicine.

Chapter 28 – Other Postnatal Head Deformations

J. Graham, 2007 .

Clinical and molecular studies in full trisomy 22: Further delineation of the phenotype and review of the literature. Reply to Dr. Robinson and Dr. Kalousek

J. Graham, C. Bacino, 1996 .

Emergency Management of the Paediatric Airway

G. Scadding, J. Graham, P. Bull, 2007 .

A laryngeal prosthesis for fistula speech after laryngectomy.

J M Graham, N Edwards, J. Graham, 1977, Journal of medical engineering & technology.

Is It Williams Syndrome? Gtf2ird1 Implicated in Visual–spatial Construction and Gtf2i in Sociability Revealed by High Resolution Arrays Materials and Methods Subject Deletion Analysis Cognitive-behavioral Analysis Results Physical and Developmental Features Deletion Analysis Neurocognitive Performan

U. Bellugi, J. Korenberg, D. Mills, 2022 .

Free proximal trisomy 21 without the Down syndrome

J. Graham, Jonathan P. Park, P. Andrews, 1987, Clinical genetics.

Chapter 18 – Lung Hypoplasia

J. Graham, 2007 .

Small deletions of the short arm of the Y chromosome in 46,XY females.

D. Page, C. Disteche, J. Graham, 1986, Proceedings of the National Academy of Sciences of the United States of America.

Chapter 46 – Oligohydramnios Sequence

J. Graham, 2007 .

Fetal Alcohol Effects in Humans and Animals

J. Graham, H. Samson, Ruth E. Little ScD, 1982 .

Choanal atresia with Down syndrome.

J. Graham, M. Cohen, W. Wertelecki, 1981, Jornal de Pediatria.

Reply to letter to the editor by Lowry et al.: An epidemiological analysis of CHARGE syndrome: Preliminary results from a Canadian study [Issekutz et al., 2005]

J. Graham, C. Prasad, K. Blake, 2005 .

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.

Familial t(4;21)(q2.4;q2.2) leading to an unbalanced offspring with the Down syndrome.

J. Graham, J. P. Park, D. Wurster‐Hill, 1986, American journal of medical genetics.

P1148A in fibrillin-1 is not a mutation anymore

J. Graham, M. Scheuner, S. Beiraghi, 1997, Nature Genetics.

Improving departmental faculty meetings: an analysis of one department's approach.

Maria M. Plummer, J. Graham, J. Kreutzman, 2005, The Journal of pediatrics.

Ichthyotic Skin Disorders in the Neonate

J. Graham, Lauren P. Rimoin, 2012, Clinical pediatrics.

A 785kb deletion of 3p14.1p13, including the FOXP1 gene, associated with speech delay, contractures, hypertonia and blepharophimosis.

J. Graham, D. Rimoin, M. Pariani, 2009, European journal of medical genetics.

Loss-of-function mutations in RAB18 cause Warburg micro syndrome.

Mark T. Handley, J. Graham, F. Müller, 2011, American journal of human genetics.

Is it Williams syndrome? GTF2IRD1 implicated in visual–spatial construction and GTF2I in sociability revealed by high resolution arrays

U. Bellugi, J. Korenberg, D. Mills, 2009, American journal of medical genetics. Part A.

Geographical variations in use of surgery for glue ear.

J. Graham, 1986, Journal of the Royal Society of Medicine.

The Immunocompromised Child

G. Scadding, J. Graham, P. Bull, 2007 .

Beckwith-Wiedemann Syndrome

J. Graham, Geert Mortier, Elaine Y. Weng, 1995, Clinical pediatrics.

Cranial synostosis and intra-uterine compression: a developmental study of human sutures.

J. Graham, L. Koskinen-Moffett, B. Moffett, 1982, Progress in clinical and biological research.