J. Stoler

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Recognition of facial features of fetal alcohol syndrome in the newborn

J. Stoler, L. Holmes, 2004, American journal of medical genetics. Part C, Seminars in medical genetics.

AMELIE 3: Fully Automated Mendelian Patient Reanalysis at Under 1 Alert per Patient per Year

S. Nelson, E. Ashley, M. Wheeler, 2021, medRxiv.

Deletions of NRXN1 (Neurexin-1) Predispose to a Wide Spectrum of Developmental Disorders

Yiping Shen, Sandra Friedman, Bai-Lin Wu, 2010, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Separation of amniotic membranes after amniocentesis in an individual with the classic form of EDS and haploinsufficiency for COL5A1 expression.

J. Stoler, W. Cole, R. Wenstrup, 2001, American journal of medical genetics.

Mitral Valve Prolapse in Marfan Syndrome: An Old Topic Revisited

A. Weyman, E. Isselbacher, J. Stoler, 2009, Echocardiography.

Health Supervision for Children and Adolescents With Down Syndrome.

Randall W. Grout, J. A. Scott, J. Stoler, 2022, Pediatrics.

Characteristics of undiagnosed diseases network applicants: implications for referring providers

Matthew H. Brush, Sarah E. Gould, Jean M. Davidson, 2018, BMC Health Services Research.

Knowledge of and Attitudes about Alzheimer Disease Genetics: Report of a Pilot Survey and Two Focus Groups

M. Albert, D. Blacker, W. DeJong, 2007, Public Health Genomics.

Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy.

Matthew H. Brush, Mercedes E. Alejandro, Gabriel F. Batzli, 2019, Clinical imaging.

Updating the neurodevelopmental profile of Alazami syndrome: Illustrating the role of developmental assessment in rare genetic disorders

J. Stoler, L. Rappaport, M. Wojcik, 2019, American journal of medical genetics. Part A.

A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network

Matthew H. Brush, Trevor S. Frisby, Sarah E. Gould, 2017, Orphanet Journal of Rare Diseases.

Marked Heterogeneity in Niemann-Pick Disease, Type C

J. Stoler, M. Natowicz, L. Liscum, 1995, Clinical pediatrics.

Musculoskeletal Conditions in a Pediatric Population with Ehlers‐Danlos Syndrome

J. Stoler, D. Kramer, M. Pepin, 2017, The Journal of pediatrics.

Audiologic Findings in Saethre-Chotzen Syndrome

J. Mulliken, J. Stoler, J. Meara, 2011, Plastic and Reconstructive Surgery.

Cleft Palate in Pfeiffer Syndrome

J. Mulliken, J. Stoler, J. Meara, 2009, The Journal of craniofacial surgery.

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

Carol J. Saunders, E. Zackai, G. Cooper, 2020, European Journal of Human Genetics.

FOXE3 plays a significant role in autosomal recessive microphthalmia

J. Stoler, T. Bardakjian, L. Reis, 2010, American journal of medical genetics. Part A.

Oculo‐ectodermal syndrome: Report of a case with mosaicism for a deletion on Xq12

J. Stoler, Matthew R. Fickie, M. Fickie, 2011, American journal of medical genetics. Part A.

Bupropion in pregnancy and the prevalence of congenital malformations

B. Haight, J. Modell, J. Stoler, 2007, Pharmacoepidemiology and drug safety.

Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen.

P. Byers, K. Conneely, G. Pals, 2013, Human molecular genetics.

The Frequency of Palatal Anomalies in Saethre-Chotzen Syndrome

J. Mulliken, J. Stoler, G. Rogers, 2009, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

Under-Recognition of Prenatal Alcohol Effects in Infants of Known Alcohol Abusing Women

J. Stoler, L. Holmes, 2000 .

Congenital malformations among infants born to women receiving montelukast, inhaled corticosteroids, and other asthma medications.

M. Bamshad, J. Stoler, A. Gould, 2012, The Journal of allergy and clinical immunology.

Ehlers Danlos Syndrome: An Unusual Presentation You Need to Know about

J. Stoler, A. Karaa, 2013, Case reports in pediatrics.

ALX4 gain‐of‐function mutations in nonsyndromic craniosynostosis

J. Stoler, V. Kimonis, M. Cunningham, 2012, Human mutation.

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

J. Stoler, C. Garel, C. Depienne, 2017, Human Genetics.

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 .

Molecular studies of segmental aneusomy: FISHing for the atypical cry in del(5)(p15.3)

J. Stoler, A. Ligon, A. Lawson-Yuen, 2007, Cytogenetic and Genome Research.

Patients with Ehlers Danlos syndrome and CRPS: A possible association?

J. Stoler, A. Oaklander, 2006, Pain.

Successful long-term treatment of hepatic carnitine palmitoyltransferase I deficiency and a novel mutation

J. Stoler, C. Hoppel, V. Shih, 2004, Journal of Inherited Metabolic Disease.

A tribute to Lewis B. Holmes: mentor and scholar.

J. Stoler, 2009, Birth defects research. Part A, Clinical and molecular teratology.

Cytogenetic and Array-CGH Characterization of a Complex de novo Rearrangement Involving Duplication and Deletion of 9p and Clinical Findings in a 4-Month-Old Female

C. Ihm, M. Listewnik, S. Kulkarni, 2010, Cytogenetic and Genome Research.

A case of a closed partial cloacal septation defect with a patent urachus.

J. Stoler, L. Holmes, D. Doody, 1993, Teratology.

31 – Genetics and Psychiatry

J. Smoller, J. Stoler, C. Finn, 2010 .

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders

M. Daly, J. Korn, J. Thakuria, 2008, Journal of Medical Genetics.

Copy number variation plays an important role in clinical epilepsy

F. Duffy, Yiping Shen, David T. Miller, 2014, Annals of neurology.

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

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

Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

Sarah E. Gould, David R. Murdock, Jean M. Davidson, 2019, Nature Medicine.

An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery

Angeliki Pantazi, Nikolaos A Patsopoulos, Ignaty Leshchiner, 2018, npj Genomic Medicine.

A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9

Alexander F. Wilson, A. F. Wilson, J. Richtsmeier, 2012, Nature Genetics.

A genome wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP 2 and within BBS 9

Alexander F. Wilson, A. F. Wilson, J. Richtsmeier, 2012 .

Clinical utility of a next generation sequencing panel assay for Marfan and Marfan‐like syndromes featuring aortopathy

J. Stoler, A. Rope, P. Bayrak-Toydemir, 2015, American journal of medical genetics. Part A.

NPHP3 mutations are associated with neonatal onset multiorgan polycystic disease in two siblings

J. Stoler, D. Dukhovny, M. Towne, 2014, Journal of Perinatology.

Utility of Genetic Testing in Fetal Alcohol Spectrum Disorder

J. Stoler, S. Jamuar, J. Picker, 2018, The Journal of pediatrics.

Prenatal and Postnatal Genetic Testing: Why, How, and When?

J. Stoler, 2017, Pediatric annals.

Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield

Yiping Shen, David T. Miller, J. Stoler, 2014, BMC Genomics.

Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision

William E. Byrd, Gabor T. Marth, David R. Murdock, 2021, Orphanet Journal of Rare Diseases.

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

William E. Byrd, Gabor T. Marth, David R. Murdock, 2021, Genetics in Medicine.

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.

A recurrent 1.71 Mb genomic imbalance at 2q13 increases the risk of developmental delay and dysmorphism

Yiping Shen, Bai-Lin Wu, J. Stoler, 2012, Clinical genetics.

Whole exome sequencing reveals a novel mutation in CUL7 in a patient with an undiagnosed growth disorder.

J. Hirschhorn, Eliana Hechter, J. Stoler, 2013, The Journal of pediatrics.

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.

Progressive Postnatal Pansynostosis

J. Mulliken, J. Stoler, M. Proctor, 2015, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

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.

Anterior laryngeal webs and 22q11 deletions.

J. Stoler, L. Holmes, M. Ladoulis, 1998, American journal of medical genetics.

Pancreatitis in Kawasaki disease.

J. Biller, J. Stoler, R. Grand, 1987, American journal of diseases of children.

Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield

Jill A. Madden, J. Stoler, T. Yu, 2019, Genetics in Medicine.

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.

Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing

Jean M. Davidson, Ellen F. Macnamara, Rebecca C. Spillmann, 2019, Journal of genetic counseling.

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

William E. Byrd, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

L. Vissers, E. Zackai, D. Nickerson, 2019, Brain : a journal of neurology.

Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, npj Genomic Medicine.

Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects.

C. Lelliott, B. Yalcin, P. Grant, 2020, American journal of human genetics.

Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

William E. Byrd, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

J. Stoler, C. Garel, C. Depienne, 2017, Human Genetics.

A Comprehensive Iterative Approach is Highly Effective in Diagnosing Individuals who are Exome Negative

Matthew H. Brush, Sarah E. Gould, Jean M. Davidson, 2018, Genetics in Medicine.

De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay

Gregory M. Enns, Lance H. Rodan, Wendy K. Chung, 2015, Cold Spring Harbor molecular case studies.

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

Matthew H. Brush, Sarah E. Gould, Jean M. Davidson, 2018, American journal of human genetics.

Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination.

Michael E. Coulter, A. Barkovich, J. Stoler, 2015, American journal of human genetics.

Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans

Masahiko Watanabe, A. Barkovich, J. Stoler, 2013, Neurology.

Under-recognition of prenatal alcohol effects in infants of known alcohol abusing women.

J. Stoler, L. Holmes, 1999, The Journal of pediatrics.

The prenatal detection of significant alcohol exposure with maternal blood markers.

E. Lieberman, J. Stoler, L. Holmes, 1998, The Journal of pediatrics.

A case of agnathia, situs inversus, and a normal central nervous system.

J. Stoler, L. Holmes, 1992, Teratology.

Redefining the progeroid form of ehlers–danlos syndrome: Report of the fourth patient with B4GALT7 deficiency and review of the literature

Michael H. Guo, J. Hirschhorn, J. Stoler, 2013, American journal of medical genetics. Part A.

Pulmonary Vasculopathy Associated with FIGF Gene Mutation.

J. Stoler, S. El-Chemaly, S. Vargas, 2017, The American journal of pathology.

Clinical sites of the Undiagnosed Diseases Network: Unique contributions to genomic medicine and science

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

One is the loneliest number: genotypic matchmaking using the electronic health record

Leigh Anne Tang, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

An assessment of clinician and researcher needs for support in the era of genomic medicine.

J. Stoler, C. Brownstein, I. Holm, 2014, Personalized medicine.

Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 36-2004. A 23-day-old infant with hypospadias and failure to thrive.

P. Donahoe, J. Stoler, N. Leach, 2004, The New England journal of medicine.

A functional mutation in the terminal exon of elastin in severe, early-onset chronic obstructive pulmonary disease.

E. Silverman, F. Speizer, J. Stoler, 2005, American journal of respiratory cell and molecular biology.

A functional mutation in the terminal exon of elastin in severe, early-onset chronic obstructive pulmonary disease.

E. Silverman, F. Speizer, J. Stoler, 2005, American Journal of Respiratory Cell and Molecular Biology.

Malformations reported in chorionic villus sampling exposed children: A review and analytic synthesis of the literature

E. Lieberman, J. Stoler, L. Holmes, 1999, Genetics in Medicine.

Recent developments in fetal alcohol spectrum disorder.

J. Stoler, Joshua Baker, 2019, Current opinion in endocrinology, diabetes, and obesity.

Genital abnormalities in females with Bardet-Biedl syndrome.

J. Stoler, L. Holmes, J. Herrin, 1995, American journal of medical genetics.

Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11

Sharyn A. Lincoln, Michael F. Wangler, J. Rosenfeld, 2021, Genetics in Medicine.

Alcohol dehydrogenase 2 genotypes, maternal alcohol use, and infant outcome.

J. Stoler, L. Holmes, L. Ryan, 2002, The Journal of pediatrics.

Maternal antiepileptic drug use and effects on fetal development

J. Stoler, 2001, Current opinion in pediatrics.

Deletion of chromosome 8q22.1, a critical region for Nablus mask‐like facial syndrome: Four additional cases support a role of genetic modifiers in the manifestation of the phenotype

J. Stoler, S. Kantarci, A. Lin, 2015, American journal of medical genetics. Part A.

Novel loss‐of‐function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures

A. Barkovich, J. Stoler, G. Mochida, 2016, American journal of medical genetics. Part A.

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.

William E. Byrd, David R. Murdock, Marni J. Falk, 2020, Brain : a journal of neurology.

Biomarkers of Alcohol Use in Pregnancy

J. Stoler, C. Bearer, J. D. Cook, 2004, Alcohol research & health : the journal of the National Institute on Alcohol Abuse and Alcoholism.

Bi-allelic variants in INTS11 are associated with a complex neurological disorder.

William E. Byrd, Marni J. Falk, Mahshid S. Azamian, 2023, American journal of human genetics.

Magnetic Resonance Imaging for Detection of Brain Abnormalities in Fetuses with Cleft Lip and/or Cleft Palate

J. Estroff, J. Mulliken, J. Stoler, 2011, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

Alcohol dehydrogenase 1B genotype and fetal alcohol syndrome: a HuGE minireview.

J. Stoler, R. Green, 2007, American journal of obstetrics and gynecology.

Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care.

William E. Byrd, Marni J. Falk, Laurel A. Cobban, 2023, The Journal of pediatrics.

Participation in a national diagnostic research study: assessing the patient experience

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, Orphanet Journal of Rare Diseases.

Reassessment of patients with the diagnosis of fetal alcohol syndrome.

J. Stoler, 1999 .

Continuing a search for a diagnosis: the impact of adolescence and family dynamics

William E. Byrd, Marni J. Falk, Mahshid S. Azamian, 2023, Orphanet Journal of Rare Diseases.

TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system

E. M. DeGennaro, Sarah E. Gould, David R. Murdock, 2023, Proceedings of the National Academy of Sciences of the United States of America.

U. Brinkmann, J. Stoler, F. Alkuraya, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

Reassessment of Patients With the Diagnosis of Fetal Alcohol Syndrome

J. Stoler, 1999, Pediatrics.

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders

Joshua M. Korn, M. Daly, J. Thakuria, 2008, Journal of Medical Genetics.

Redefining the progeroid form of ehlers–danlos syndrome: Report of the fourth patient with B4GALT7 deficiency and review of the literature

Michael H. Guo, J. Hirschhorn, J. Stoler, 2013, American journal of medical genetics. Part A.

Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans

Masahiko Watanabe, A. Barkovich, J. Stoler, 2013, Neurology.

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.

Matthew H. Brush, Gabor T. Marth, John Arul Phillips, 2019, American journal of human genetics.