Marilyn C. Jones

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Smith's Recognizable Patterns of Human Malformation

K. Jones, Marilyn C. Jones, M. Campo, 1996 .

Prenatal evaluation of facial clefts with two-dimensional and adjunctive three-dimensional ultrasonography: a prospective trial.

T. Nelson, D. Pretorius, G. James, 2002, American journal of obstetrics and gynecology.

Facial Nerve Paralysis: An Unrecognized Cause of Lower Eyelid Entropion in the Pediatric Population

Marilyn C. Jones, B. Korn, D. Kikkawa, 2007, Ophthalmic plastic and reconstructive surgery.

Clinical heterogeneity in lymphoedema-distichiasis withFOXC2 truncating mutations

Marilyn C. Jones, T. Glover, M. McDonald, 2001, Journal of medical genetics.

Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico

Denise L. Perry, Vladimir G. Gainullin, S. S. Ajay, 2019, npj Genomic Medicine.

Impact of Cell-Free Fetal DNA Screening on Patients’ Choice of Invasive Procedures after a Positive California Prenatal Screen Result

Marilyn C. Jones, K. Osann, M. Bocian, 2014, Journal of clinical medicine.

Enlarged Cavum Septi Pellucidi and Vergae in the Fetus: A Cause for Concern

D. Pretorius, L. Romine, Marilyn C. Jones, 2017, Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine.

Neonatal phenotype in Kabuki syndrome

E. Roeder, L. Bird, Marilyn C. Jones, 2005, American journal of medical genetics. Part A.

Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome‐wide sequencing

Jill L. Maron, S. Kingsmore, Marilyn C. Jones, 2023, American journal of medical genetics. Part A.

Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility

J. Church, N. Hauser, C. Strom, 2014, European Journal of Human 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.

Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases

J. Belmont, R. Taft, Marilyn C. Jones, 2019, Journal of Medical Genetics.

Partial Jacobsen syndrome phenotype in a patient with a de novo frameshift mutation in the ETS1 transcription factor

S. Mattson, N. Akshoomoff, Marilyn C. Jones, 2019, Cold Spring Harbor molecular case studies.

Maternal and fetal capillary malformation–arteriovenous malformation (CM–AVM) due to a novel RASA1 mutation presenting with prenatal non‐immune hydrops fetalis

G. Ramos, R. Overcash, Tara S Andreasen, 2015, American journal of medical genetics. Part A.

Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development

Sara B. Linker, Ryan E. Mills, Kiely N. James, 2023, Nature Genetics.

Ethical and Policy Issues in Genetic Testing and Screening of Children

R. Sharp, J. Hoffman, A. Lemke, 2016, Pediatric Clinical Practice Guidelines & Policies.

Prenatally Diagnosed Fetal Split‐Hand/Foot Malformations Often Accompany a Spectrum of Anomalies

D. Pretorius, L. Romine, Q. Dai, 2014, Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine.

Growth charts for 22q11 deletion syndrome

K. Jones, L. Bird, Marilyn C. Jones, 2012, American Journal of Medical Genetics. Part A.

Growth Charts for 22 q 11 Deletion Syndrome

K. Jones, L. Bird, Marilyn C. Jones, 2012 .

De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome.

Fajr A. Aleisa, J. Rosenfeld, A. Bye, 2019, American journal of human genetics.

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

J. Rosenfeld, I. Krantz, Ankita Patel, 2019, Genetics in Medicine.

A fetal diagnostic center's referral rate for perinatal palliative care.

D. Pretorius, Marilyn C. Jones, A. Hull, 2017, Annals of palliative medicine.

Health Supervision for People With Achondroplasia

Marilyn C. Jones, J. Hoover-Fong, C. Scott, 2020, Pediatrics.

Mutation update for the SATB2 gene

Donna M. Martin, Marc S. Williams, E. Roeder, 2019, Human mutation.

Mutation update for the SATB 2 gene

Adeline, Marc S. Williams, E. Roeder, 2019 .

Immunodeficiency and Autoimmune Enterocolopathy Linked to NFAT5 Haploinsufficiency

John T. Chang, O. Harismendy, M. Peterson, 2015, The Journal of Immunology.

X-linked neonatal-onset epileptic encephalopathy associated with a gain-of-function variant p.R660T in GRIA3

A. Bayat, Marilyn C. Jones, B. Gérard, 2021, PLoS genetics.

122 EXPANDING THE PHENOTYPE OF MOSAIC TRISOMY 20.

L. Bird, Marilyn C. Jones, M. Willis, 2006, Journal of Investigative 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.

FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate.

Ana María López, R. T. Lie, A. Wilcox, 2009, Human molecular genetics.

Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy

Soma Das, H. Dietz, Marilyn C. Jones, 2014, Case reports in genetics.

Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities

A. V. Vulto-van Silfhout, D. Baralle, P. Striano, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Postmortem diagnosis of PPA2-associated sudden cardiac death from dried blood spot in a neonate presenting with vocal cord paralysis

S. Kingsmore, M. Bainbridge, Marilyn C. Jones, 2020, Cold Spring Harbor molecular case studies.

Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico

D. Bentley, J. Belmont, R. Taft, 2019, npj Genomic Medicine.

The case for early use of rapid whole-genome sequencing in management of critically ill infants: late diagnosis of Coffin–Siris syndrome in an infant with left congenital diaphragmatic hernia, congenital heart disease, and recurrent infections

Shimul Chowdhury, David P Dimmock, S. Kingsmore, 2018, Cold Spring Harbor molecular case studies.

Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocol.

E. Zackai, K. Gripp, Marilyn C. Jones, 2002, American journal of medical genetics.

A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.

D. Horn, J. Clayton-Smith, Jenny C. Taylor, 2016, American journal of human genetics.

Megalourethra: A report of three cases associated with maternal diabetes and a review of the literature—is sonic hedgehog the common pathway?

K. Benirschke, K. Jones, L. Bird, 2005, American journal of medical genetics. Part A.

Diagnosis of Fetal Limb Abnormalities Before 15 Weeks

D. Pretorius, Marilyn C. Jones, C. Hartney, 2011, Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine.

Evaluation of the Fetal Secondary Palate by 3‐Dimensional Ultrasonography

T. Wolfson, D. Pretorius, L. Romine, 2010, Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine.

Further delineation of the CWC27‐associated spliceosomeopathy: Case report and review of the literature

Marilyn C. Jones, J. Friedman, S. Borooah, 2023, American journal of medical genetics. Part A.

Koilonychia, dome-shaped epiphyses, and vertebral platyspondylia.

S. Friedlander, R. Buka, B. Roberts, 2005, Jornal de Pediatria.

High-density single nucleotide polymorphism array analysis in patients with germline deletions of 22q11.2 and malignant rhabdoid tumor

T. Shaikh, J. Biegel, Marilyn C. Jones, 2007, Human Genetics.

A Clinical Approach to the Dysmorphic Child

K. Jones, Marilyn C. Jones, Marilyn C. Jones, 2019, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics.

A novel autosomal dominant mutation in SOX18 resulting in a fatal case of hypotrichosis–lymphedema–telangiectasia syndrome

Marilyn C. Jones, Kristen Wigby, H. Wangberg, 2018, American journal of medical genetics. Part A.

Methylthioadenosine phosphorylase (MTAP) in hearing: Gene disruption by chromosomal rearrangement in a hearing impaired individual and model organism analysis

C. Morton, M. Liberman, R. Maas, 2007, American journal of medical genetics. Part A.

Further phenotypic characterization of Kaufman oculocerebrofacial syndrome: report of five new cases and literature review.

Marilyn C. Jones, Kristen Wigby, C. Galarreta, 2019, Clinical dysmorphology.

Number of Surgical Procedures for Patients With Cleft lip and Palate From Birth to 21 Years Old at a Single Children's Hospital

Marilyn C. Jones, A. Gosman, J. Proudfoot, 2016, Annals of plastic surgery.

FOXE 1 association with both isolated cleft lip with or without cleft palate , and isolated cleft palate

Ana María López, R. T. Lie, A. Wilcox, 2009 .

Prenatal diagnosis of cleft lip and palate: detection rates, accuracy of ultrasonography, associated anomalies, and strategies for counseling.

Marilyn C. Jones, Marilyn C Jones, Marilyn C. Jones, 2002, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

A novel partial duplication in OPHN1, associated with vermis cerebellar hypoplasia, seizures and developmental delay

C. Skinner, Marilyn C. Jones, T. Brandt, 2022, Gene Reports.

Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data

J. Rosenfeld, C. Shaw, Marilyn C. Jones, 2022, American journal of medical genetics. Part A.

Parameters for evaluation and treatment of patients with cleft lip/palate or other cranofacial anomalies

T. Turvey, J. Marsh, Marilyn C. Jones, 1993 .

Evaluation of Ventilation Tube Placement and Long-term Audiologic Outcome in Children with Cleft Palate

Marilyn C. Jones, A. Gosman, D. Carvalho, 2017, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

Patterns of malformation in children with congenital diaphragmatic defects.

K. Jones, C. Cunniff, M. Jones, 1990, The Journal of pediatrics.

Mosaic triple trisomy in amniocytes from a phenotypically and karyotypically normal fetus

J. Mascarello, M. Jones, V. A. Catanzarit, 1994, Prenatal diagnosis.

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.

Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations.

D. Chitayat, Marilyn C. Jones, G. Kletter, 2019, American journal of human genetics.

An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm.

Kiely N. James, S. Kingsmore, M. Bainbridge, 2020, American journal of human genetics.

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

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

Brain anomalies in encephalocraniocutaneous lipomatosis

A. Verloes, W. Dobyns, Marilyn C. Jones, 2007, American journal of medical genetics. Part A.

TREACHER COLLINS SYNDROME AND RELATED DISORDERS

Marilyn C. Jones, Marilyn C. Jones, 2020, Cassidy and Allanson's Management of Genetic Syndromes.

Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome.

E. Zackai, N. Spinner, R. Shprintzen, 1992, American journal of medical genetics.

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

Rebecca C. Spillmann, Denise L. Perry, J. Rosenfeld, 2019, Genetics in Medicine.

Underlying genetic diagnosis of Pierre Robin sequence: retrospective chart review at two children's hospitals and a systematic literature review.

Marilyn C. Jones, A. Mitchell, K. Izumi, 2012, The Journal of pediatrics.

Gastroschisis: abdominal wall disruption secondary to early gestational interruption of the omphalomesenteric artery.

H. Hoyme, K. Jones, M. Jones, 1983, Seminars in perinatology.

Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome: does abnormal cholesterol metabolism affect the function of Sonic Hedgehog?

R. Hennekam, K. Kosaki, M. Muenke, 1996, American journal of medical genetics.

Whole‐exome sequencing reveals novel USP9X variant in female fetus with isolated agenesis of the corpus callosum

D. Pretorius, Marilyn C. Jones, G. Ramos, 2019, Clinical case reports.

Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy.

Denise L. Perry, J. Rosenfeld, R. Taft, 2018, American journal of human genetics.

Three novel fibrillin mutations in exons 25 and 27: Classic versus neonatal Marfan syndrome

B. Burton, Marilyn C. Jones, J. Lamberti, 1997, Human mutation.

The utilization of circulating cell-free fetal DNA testing and decrease in invasive diagnostic procedures: an institutional experience

D. Pretorius, A. Hull, K. Pettit, 2014, Journal of Perinatology.

Noninvasive Prenatal Testing: A Replacement for Chorionic Villus Sampling and Amniocentesis for Advanced Maternal Age?

D. Pretorius, A. Hull, K. Pettit, 2014 .

Vascular steal: the pathogenetic mechanism producing sirenomelia and associated defects of the viscera and soft tissues.

K. Benirschke, R. Stevenson, K. Jones, 1986, Pediatrics.

Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype

L. Bird, W. Dobyns, U. Moog, 2005, 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.

Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay

A. Hamosh, Marilyn C. Jones, P. Kruszka, 2017, European Journal of Human Genetics.

Fetal lip and primary palate: three-dimensional versus two-dimensional US.

T R Nelson, D H Pretorius, T. Nelson, 2000, Radiology.

Duplication of distal 15q: report of five new cases from two different translocation kindreds.

K. Jones, O. Jones, J. Mascarello, 1987, American journal of medical genetics.

Umbilical cord haemangioma associated with an eruptive cutaneous haemangioma in a female infant

Marilyn C. Jones, A. Scioscia, L. Weyerts, 1993, Prenatal diagnosis.

Developmental outcome in Kabuki syndrome

K. Vaux, S. Schelley, L. Hudgins, 2005, American journal of medical genetics. Part A.

Health Supervision for Children With Marfan Syndrome

Marilyn C. Jones, R. Saul, Chairperson, 2013 .

Hepatoblastoma characterized by trisomy 20 and double minutes.

J. Mascarello, M. Jones, H. Krous, 1989, Cancer genetics and cytogenetics.

Mutation of WIF1: a potential novel cause of a Nail-Patella-like disorder

A. Torkamani, Marilyn C. Jones, Sarah E. Topol, 2017, Genetics in Medicine.

Female infant with oncocytic cardiomyopathy and microphthalmia with linear skin defects (MLS): a clue to the pathogenesis of oncocytic cardiomyopathy?

L. Bird, L. Eichenfield, M. Jones, 1994, American journal of medical genetics.

Maternal and fetal capillary malformation–arteriovenous malformation (CM–AVM) due to a novel RASA1 mutation presenting with prenatal non‐immune hydrops fetalis

G. Ramos, R. Overcash, Christopher K Gibu, 2015, American journal of medical genetics. Part A.

Gastrointestinal disorders in Curry–Jones syndrome: Clinical and molecular insights from an affected newborn

S. Bickler, S. Twigg, A. Wilkie, 2017, American journal of medical genetics. Part A.

Marfanoid habitus with abnormal situs

L. Bird, Marilyn C. Jones, K. Kosaki, 2004, American journal of medical genetics. Part A.

Extending the mutation spectrum for Galloway–Mowat syndrome to include homozygous missense mutations in the WDR73 gene

E. Dikoglu, Marilyn C. Jones, J. Gleeson, 2016, American journal of medical genetics. Part A.