D. Scott

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Whole-Exome Sequencing in the molecular diagnosis of individuals with congenital anomalies of kidney and urinary tract and identification of a new causative gene

J. Rosenfeld, J. Lupski, R. Gibbs, 2016, Genetics in Medicine.

Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH

J. Rosenfeld, C. Shaw, S. Lalani, 2021, Journal of Medical Genetics.

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

P. Stankiewicz, E. Roeder, Ankita Patel, 2009, Journal of Medical Genetics.

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

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

Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly

P. Stankiewicz, Ankita Patel, J. Lupski, 2005, Journal of Medical Genetics.

Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing.

Mahshid S. Azamian, J. Rosenfeld, S. Lalani, 2020, American journal of human genetics.

Mouse Model Reveals the Role of RERE in Cerebellar Foliation and the Migration and Maturation of Purkinje Cells

D. Scott, B. Kim, 2014, PloS one.

RERE deficiency causes retinal and optic nerve atrophy through degeneration of retinal cells

D. Scott, B. Kim, 2021, Developmental dynamics : an official publication of the American Association of Anatomists.

RERE deficiency contributes to the development of orofacial clefts in humans and mice.

J. Carmichael, D. Scott, T. Scott, 2021, Human molecular genetics.

Genotype–phenotype correlations in individuals with pathogenic RERE variants

Donna M. Martin, J. Rosenfeld, N. Boddaert, 2018, Human mutation.

RERE deficiency leads to decreased expression of GATA4 and the development of ventricular septal defects

R. Schwartz, Wei Yu, D. Scott, 2018, Disease Models & Mechanisms.

De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions.

J. Rosenfeld, B. D. de Vries, E. Zackai, 2016, American journal of human genetics.

Stromal Fat4 acts non-autonomously with Dchs1/2 to restrict the nephron progenitor pool

B. Blencowe, Q. Pan, H. McNeill, 2015, Development.

Identification of Critical Regions and Candidate Genes for Cardiovascular Malformations and Cardiomyopathy Associated with Deletions of Chromosome 1p36

S. Cheung, B. Morrow, S. Lalani, 2014, PloS one.

ASPP2 deficiency causes features of 1q41q42 microdeletion syndrome

K. R. Jun, J. Rosenfeld, J. Schneider, 2016, Cell Death and Differentiation.

Refining the DFNB7-DFNB11 deafness locus using intragenic polymorphisms in a novel gene, TMEM2.

B J Keats, V. Sheffield, R. Swiderski, 2000, Gene.

Identification and mutation analysis of a cochlear-expressed, zinc finger protein gene at the DFNB7/11 and dn hearing-loss loci on human chromosome 9q and mouse chromosome 19.

V. Sheffield, M. Lovett, M. Batzer, 1998, Gene.

Human pendrin expressed in Xenopus laevis oocytes mediates chloride/formate exchange.

D. Scott, L. P. Karniski, Daryl A. Scott, 2000, American journal of physiology. Cell physiology.

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Michael F. Wangler, E. Haan, E. Zackai, 2019, Human mutation.

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

Michael F. Wangler, E. Zackai, David T. Miller, 2018, Genetics in Medicine.

Connexin mutations and hearing loss

V. Sheffield, E. Stone, Richard J. H. Smith, 1998, Nature.

Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans

L. Potocki, A. Brusco, S. Keswani, 2021, American journal of medical genetics. Part A.

BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder

J. Rosenfeld, R. Pfundt, E. Eichler, 2020, Human mutation.

Deletions of Xp provide evidence for the role of holocytochrome C‐type synthase (HCCS) in congenital diaphragmatic hernia

S. Cheung, L. Immken, B. Pober, 2010, American journal of medical genetics. Part A.

Two frequent missense mutations in Pendred syndrome.

E. Green, C. Cremers, N. Dietrich, 1998, Human molecular genetics.

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Stephan J Sanders, R. Redon, J. Rosenfeld, 2019, American journal of human genetics.

Running title: A role for ASPP2 in human congenital disorder

Zubaidah, J. Rosenfeld, Xin Lu, 2018 .

Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis

A. Renieri, F. Mari, B. Zabel, 2009, European Journal of Human Genetics.

COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay.

Alyssa A. Tran, Denise G. Lanza, J. Rosenfeld, 2021, American journal of human genetics.

Characteristics of undiagnosed diseases network applicants: implications for referring providers

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

Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy.

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

Birth defect co-occurrence patterns in the Texas Birth Defects Registry

Renata H Benjamin, C. Schaaf, A. Scheuerle, 2021, Pediatric Research.

Patterns of co-occurring birth defects among infants with hypospadias.

Renata H Benjamin, A J Agopian, C. Schaaf, 2020, Journal of pediatric urology.

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.

FBN1 contributing to familial congenital diaphragmatic hernia

Alexander Hanbo Li, J. Lupski, R. Gibbs, 2015, American journal of medical genetics. Part A.

Esophageal Atresia/Tracheoesophageal Fistula Overview

D. Scott, 2014 .

Contribution of LPP copy number and sequence changes to esophageal atresia, tracheoesophageal fistula, and VACTERL association

D. Tibboel, S. Lalani, Brendan H. Lee, 2012, American journal of medical genetics. Part A.

Clinical geneticists' views of VACTERL/VATER association

D. Tibboel, C. Shaw-Smith, P. Giampietro, 2012, American journal of medical genetics. Part A.

Prenatal detection and outcome of congenital diaphragmatic hernia (CDH) associated with deletion of chromosome 15q26: Two patients and review of the literature

E. M. Schoonderwaldt, D. Tibboel, B. Lee, 2007, American journal of medical genetics. Part A.

Patterns of Genetic Transmission

D. Scott, Brendan H Lee, Brendan H. Lee, 2011 .

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.

ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model.

J. Rosenfeld, P. Striano, F. Zara, 2022, American journal of human genetics.

Evidence for an association between Coffin‐Siris syndrome and congenital diaphragmatic hernia

Michael F. Wangler, M. Wangler, F. Scaglia, 2022, American journal of medical genetics. Part A.

Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus

J. Rosenfeld, C. Shaw, Soo-Mi Park, 2022, American journal of medical genetics. Part A.

Expanding the phenotypic spectrum of Succinyl-CoA ligase deficiency through functional validation of a new SUCLG1 variant.

W. Craigen, B. Graham, T. Donti, 2016, Molecular genetics and metabolism.

RERE-Related Disorders

E. Sherr, D. Scott, 2019 .

Review of the phenotypic spectrum associated with haploinsufficiency of MYRF

J. Rosenfeld, S. Lalani, V. Sutton, 2019, American journal of medical genetics. Part A.

Severe mental retardation, seizures, and hypotonia due to deletions of MEF2C

P. Stankiewicz, Z. Xia, Ankita Patel, 2010, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen.

P. Byers, M. Willing, D. Scott, 1994, American journal of human genetics.

Mouse model reveals the role of SOX7 in the development of congenital diaphragmatic hernia associated with recurrent deletions of 8p23.1.

M. Dickinson, D. Tibboel, Brendan H. Lee, 2012, Human molecular genetics.

The frequency and efficacy of genetic testing in individuals with scimitar syndrome

S. Morris, D. Scott, P. Lupo, 2021, Cardiology in the Young.

WAGR(O?) syndrome and congenital ptosis caused by an unbalanced t(11;15)(p13;p11.2)dn demonstrating a 7 megabase deletion by FISH

S. Cheung, D. Scott, S. Kirkpatrick, 2006, American journal of medical genetics. Part A.

Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.

P. Patel, M. Justice, D. Tibboel, 2013, Human molecular genetics.

Congenital diaphragmatic hernia as a prominent feature of a SPECC1L‐related syndrome

E. Zackai, J. Lupski, S. Jhangiani, 2020, American journal of medical genetics. Part A.

Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss

K. Elbedour, R. Carmi, C. Srisailapathy, 1998, Human mutation.

Evidence-based genetic testing for individuals with congenital diaphragmatic hernia (CDH).

D. Scott, Yoel Gofin, 2022, The Journal of pediatrics.

Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage–fusion–bridge for telomere stabilization

Ankita Patel, J. Lupski, S. Cheung, 2012, Human Genetics.

High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations

J. Rosenfeld, C. Shaw, Xiaonan Zhao, 2022, European Journal of Human Genetics.

Chapter 31 – Nail-Patella Syndrome

Brendan H. Lee, D. Scott, R. Morello, 2009 .

American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss

Heidi L Rehm, Michelle Fox, Daryl A Scott, 2014, Genetics in Medicine.

Genetic factors in congenital diaphragmatic hernia.

D. Tibboel, Brendan H. Lee, B. Lee, 2007, American journal of human genetics.

Genetic Factors in Congenital Diaphragmatic Hernia Overview of Normal and Abnormal Diaphragm Development

D. Tibboel, B. Lee, D. Scott, 2007 .

The Pendred syndrome gene encodes a chloride-iodide transport protein

Rong Wang, Val C. Sheffield, Daryl A. Scott, 1999, Nature Genetics.

Prioritization of Candidate Genes for Congenital Diaphragmatic Hernia in a Critical Region on Chromosome 4p16 using a Machine-Learning Algorithm

C. Shaw, J. Lupski, D. Muzny, 2018, Journal of Pediatric Genetics.

Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4).

V. Sheffield, J. Bishop, D. Scott, 2000, Human molecular genetics.

Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia

A. Breman, S. Cheung, C. Bacino, 2009, American journal of medical genetics. Part A.

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.

VACTERL Association Etiology: The Impact of de novo and Rare Copy Number Variations

D. Tibboel, A. de Klein, D. Scott, 2012, Molecular Syndromology.

Missense variants affecting the actin-binding domains of PLS3 cause X-linked congenital diaphragmatic hernia and body wall defects

C. Bult, P. Donahoe, P. Giampietro, 2021, medRxiv.

COPB2 haploinsufficiency causes a coatopathy with osteoporosis and developmental delay

Alyssa A. Tran, Denise G. Lanza, J. Rosenfeld, 2020, bioRxiv.

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.

De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease

J. Lupski, S. Bale, S. Lalani, 2016, Human Genetics.

Dusp6 (Mkp3) is a negative feedback regulator of FGF-stimulated ERK signaling during mouse development

Daryl A. Scott, D. Scott, S. Mansour, 2007, Development.

Dusp 6 ( Mkp 3 ) is a negative feedback regulator of FGF-stimulated ERK signaling during mouse development

Daryl A. Scott, D. Scott, S. Mansour, 2022 .

Phenotypic manifestations of copy number variation in chromosome 16p13.11

P. Stankiewicz, E. Roeder, Ankita Patel, 2011, European Journal of Human Genetics.

Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability

Mahshid S. Azamian, S. Cheung, S. Lalani, 2017, PloS one.

De novo three-way chromosome translocation 46,XY,t(4;6;21)(p16;p21.1;q21) in a male with cleidocranial dysplasia

P. Stankiewicz, J. Mulvihill, Jiyun Lee, 2008, American journal of medical genetics. Part A.

Co-occurring defect analysis: A platform for analyzing birth defect co-occurrence in registries.

Han Chen, Michael D Swartz, Xiao Yu, 2019, Birth defects research.

Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia

Anthony Johnson, Daryl A Scott, Thomas Schaible, 2011, Journal of Medical Genetics.

Recessive ACO2 variants as a cause of isolated ophthalmologic phenotypes

Mahshid S. Azamian, S. Lalani, V. Sutton, 2020, American journal of medical genetics. Part A.

Delineation of a 1.65 Mb critical region for hemihyperplasia and digital anomalies on Xq25

P. Fang, D. Scott, Ruchi Masand, 2010, American journal of medical genetics. Part A.

1p36 deletion syndrome: an update

D. Scott, H. P. Zaveri, Valerie K. Jordan, 2015, The application of clinical genetics.

Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10.

V. Sheffield, V. D. Der Kaloustian, J. Hejtmancik, 1996, Human molecular genetics.

NAHR-mediated copy-number variants in a clinical population: Mechanistic insights into both genomic disorders and Mendelizing traits

J. Rosenfeld, P. Stankiewicz, A. Breman, 2013, Genome research.

Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula

D. Tibboel, M. Lacher, P. Hoffmann, 2016, European Journal of Human Genetics.

Microarray‐based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics

P. Stankiewicz, Ankita Patel, C. Shaw, 2007, American journal of medical genetics. Part A.

Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency

Mahshid S. Azamian, S. Scherer, J. Rosenfeld, 2022, Human mutation.

Centers for Mendelian Genomics: A decade of facilitating gene discovery

Jeffrey M. Weiss, Ryan L. Collins, Jack M. Fu, 2021, medRxiv.

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.

Phenotypic expansion in KIF1A‐related dominant disorders: A description of novel variants and review of published cases

Michael M. Khayat, J. Rosenfeld, J. Lupski, 2020, Human mutation.

Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage–fusion–bridge for telomere stabilization

Ankita Patel, J. Lupski, S. Cheung, 2012, Human Genetics.

Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission

Mahshid S. Azamian, J. Rosenfeld, J. Gécz, 2019, Science Advances.

Patterns of co‐occurring birth defects in children with anotia and microtia

C. Schaaf, A. Scheuerle, H. Northrup, 2022, American journal of medical genetics. Part A.

De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.

S. Lalani, Yaping Yang, C. Eng, 2016, American journal of human genetics.

Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness.

V. Sheffield, G. Woodworth, G. Woodworth, 1999, JAMA.

New gene for autosomal recessive non-syndromic hearing loss maps to either chromosome 3q or 19p.

V. Sheffield, M. Lovett, C. Srisailapathy, 1997, American journal of medical genetics.

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.

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

J. Rosenfeld, E. Roeder, J. Lupski, 2019, Genome Medicine.

Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management

Fan Xia, Pengfei Liu, Xiaoyan Ge, 2017, JAMA pediatrics.

Underlying genetic etiologies of congenital diaphragmatic hernia

D. Scott, April D. Adams, Yoel Gofin, 2022, Prenatal diagnosis.

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.

Justyna A. Karolak, H. Mefford, W. Chung, 2019, American journal of human genetics.

The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia

Alexander Hanbo Li, J. Lupski, R. Gibbs, 2018, Human molecular genetics.

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.

Genetics of congenital diaphragmatic hernia.

D. Scott, 2007, Seminars in pediatric surgery.

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 variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities

J. Rosenfeld, J. Lupski, Zhihong Wu, 2021, npj Genomic Medicine.

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

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

Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder

Michael T. Zimmermann, Nikita R. Dsouza, A. Green, 2020, Genetics in Medicine.

Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

Eric W. Klee, Ange-Line Bruel, Sophie Nambot, 2019, Genetics in Medicine.

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.

Congenital diaphragmatic hernia in WAGR syndrome

P. Stankiewicz, M. L. Cooper, S. Cheung, 2005, American journal of medical genetics. Part A.

Deficiency of FRAS 1-related extracellular matrix 1 ( FREM 1 ) causes congenital diaphragmatic hernia in humans and mice

P. Patel, M. Justice, D. Tibboel, 2013 .

The Human Genome

D. Scott, Brendan H. Lee, 2011 .

An Allelic Series of Mice Reveals a Role for RERE in the Development of Multiple Organs Affected in Chromosome 1p36 Deletions

M. Justice, D. Stockton, Brendan H. Lee, 2013, PloS one.

Chromosome 5q33 deletions associated with congenital heart defects

C. Mercer, S. Lalani, D. Scott, 2016, American journal of medical genetics. Part A.

The Genetic Approach in Pediatric Medicine

D. Scott, Brendan H. Lee, 2011 .

De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities

J. Rosenfeld, J. Lupski, Zhihong Wu, 2021, NPJ genomic medicine.

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.

Schaaf‐Yang syndrome overview: Report of 78 individuals

J. Charrow, C. Schaaf, T. Roscioli, 2018, American journal of medical genetics. Part A.

A novel, de novo intronic variant in POGZ causes White–Sutton syndrome

David R. Murdock, J. Rosenfeld, R. Lewis, 2022, American Journal of Medical Genetics. Part A.

Performance of cochlear implant recipients with GJB2-related deafness.

V. Sheffield, J. Knutson, G. Woodworth, 2002, American journal of medical genetics.

Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism

J. Rosenfeld, Cheol‐Hee Kim, O. Hummel, 2019, Molecular Autism.

Ovotestes and XY sex reversal in a female with an interstitial 9q33.3‐q34.1 deletion encompassing NR5A1 and LMX1B causing features of genitopatellar syndrome

Laurie D. Smith, P. Stankiewicz, W. Reardon, 2007, American journal of medical genetics. Part A.

Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN.

R. Gibbs, D. Muzny, M. Bainbridge, 2018, Blood.

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.

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.

MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development.

Ankita Patel, S. Cheung, J. Belmont, 2013, Human molecular genetics.

Genome-wide oligonucleotide-based array comparative genome hybridization analysis of non-isolated congenital diaphragmatic hernia.

D. Tibboel, Brendan H. Lee, A. de Klein, 2007, Human molecular genetics.

Novel Missense Variants in ADAT3 as a Cause of Syndromic Intellectual Disability

Yaping Yang, L. Potocki, D. Scott, 2019, Journal of Pediatric Genetics.

Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO

Mahshid S. Azamian, J. Rosenfeld, A. Breman, 2016, Journal of Medical Genetics.

Low prevalence of human immunodeficiency virus-1 (HIV-1), HIV-2, and human T cell lymphotropic virus-1 infection in Somalia.

A. Corwin, D. Watts, D. Scott, 1991, The American journal of tropical medicine and hygiene.

A 1q42 deletion involving DISC1, DISC2, and TSNAX in an autism spectrum disorder

S. Cheung, D. Scott, M. Proud, 2009, American journal of medical genetics. Part A.

SOX7 expression is critically required in FLK1-expressing cells for vasculogenesis and angiogenesis during mouse embryonic development

A. Lilly, V. Kouskoff, G. Lacaud, 2017, Mechanisms of Development.

BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms.

David R. Murdock, Michael F. Wangler, J. Rosenfeld, 2020, American journal of human genetics.

SOX7 Is Required for Muscle Satellite Cell Development and Maintenance

A. Blais, I. Skerjanc, D. Scott, 2017, Stem cell reports.

Birth Defect Co-Occurrence Patterns Among Infants With Cleft Lip and/or Palate

C. Schaaf, A. Scheuerle, M. Swartz, 2021, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

Nonsyndromic autosomal recessive deafness is linked to the DFNB1 locus in a large inbred Bedouin family from Israel.

V. Sheffield, E. Stone, K. Elbedour, 1995, American journal of human genetics.

Birth defects that co‐occur with non‐syndromic gastroschisis and omphalocele

A J Agopian, C. Schaaf, A. Scheuerle, 2020, American journal of medical genetics. Part A.

Congenital diaphragmatic hernia associated with duplication of 11q23‐qter

R. Hochstenbach, M. Poot, J. Laudy, 2006, American journal of medical genetics. Part A.

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.

Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond–Blackfan anaemia

P. Stankiewicz, E. Roeder, V. Enciso, 2010, Journal of Medical Genetics.

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.

A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C

David R. Murdock, J. Rosenfeld, T. Schedl, 2022, Proceedings of the National Academy of Sciences.

Localization of a novel gene for nonsyndromic hearing loss (DFNB17) to chromosome region 7q31.

M. Lovett, P. Coucke, C. Srisailapathy, 1998, American journal of medical genetics.

TO JMG Deletion 9 q 34 . 3 syndrome : genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly

P. Stankiewicz, J. Lupski, S. Cheung, 2005 .

FOXP1 Haploinsufficiency Contributes to the Development of Congenital Diaphragmatic Hernia

C. Shaw, P. Donahoe, I. Campbell, 2021, Journal of Pediatric Genetics.

OTUD5 Variants Associated With X-Linked Intellectual Disability and Congenital Malformation

Mahshid S. Azamian, S. Lalani, T. Ogata, 2021, Frontiers in Cell and Developmental Biology.

Multiple mitochondrial dysfunctions syndrome 1: An unusual cause of developmental pulmonary hypertension

F. Scaglia, D. Scott, C. Galambos, 2020, American journal of medical genetics. Part A.

Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

J. Rosenfeld, E. Roeder, J. Lupski, 2019, Genome Medicine.

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.

SOX7 deficiency causes ventricular septal defects through its effects on endocardial-to-mesenchymal transition and the expression of Wnt4 and Bmp2

R. Lanz, Yumei Li, Rui Chen, 2020, bioRxiv.

Fine–Lubinsky syndrome: Sibling pair suggests possible autosomal recessive inheritance

B. Graham, Brendan H. Lee, D. Scott, 2007, American Journal of Medical Genetics. Part A.

NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum

Sitao Wu, E. Hatchwell, A. Hasso, 2020, Journal of Medical Genetics.

Spontaneous resolution of a giant colonic diverticulum.

D. Scott, S. Glancy, 2008, Clinical radiology.

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.

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.

An autosomal recessive nonsyndromic-hearing-loss locus identified by DNA pooling using two inbred Bedouin kindreds.

V. Sheffield, E. Stone, K. Elbedour, 1996, American journal of human genetics.

Delineation of a less than 200 kb minimal deleted region for cardiac malformations on chromosome 7p22

D. Scott, Sung-Hae L. Kang, H. P. Zaveri, 2011, American journal of medical genetics. Part A.

C. Bishop, M. Justice, D. Stockton, 2013, PloS one.

Further delineation of the phenotypic spectrum associated with hemizygous loss‐of‐function variants in NONO

J. Rosenfeld, M. Patterson, Yaping Yang, 2019, American journal of medical genetics. Part A.

Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease

Mahshid S. Azamian, S. Lalani, R. Ghosh, 2019, American journal of medical genetics. Part A.

De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease

J. Lupski, S. Bale, S. Lalani, 2016, Human Genetics.

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.

Early initiation of B‐vitamin supplementation may reduce symptoms and explain intrafamilial variability: Insights from two sibling pairs from the TANGO2 natural history study

Mahshid S. Azamian, S. Lalani, D. Scott, 2023, American journal of medical genetics. Part A.

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.

Familial hypomagnesemia maps to chromosome 9q, not to the X chromosome: genetic linkage mapping and analysis of a balanced translocation breakpoint.

V. Sheffield, E. Stone, S. Patil, 1997, Human molecular genetics.

Tropical spastic paraparesis associated with HTLV-1 in Egypt.

A. Rolfs, M. Kamal, D. Scott, 1992, Transactions of the Royal Society of Tropical Medicine and Hygiene.

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.

The Application of Clinical Genetics Dovepress 1p36 Deletion Syndrome: an Update

D. Scott, H. P. Zaveri, Valerie K. Jordan, 2022 .

Integrative analysis of transcriptome dynamics during human craniofacial development identifies candidate disease genes

J. Rosenfeld, D. Scott, E. Leslie, 2023, Nature communications.

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.

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

Michael F. Wangler, David T. Miller, B. Korf, 2018, Genetics in Medicine.

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

J. Rosenfeld, E. Roeder, J. Lupski, 2019, Genome Medicine.

Sox7‐positive endothelial progenitors establish coronary arteries and govern ventricular compaction

C. Shaw, K. Red-Horse, P. Young, 2023, EMBO reports.

1 p 36 deletion syndrome : an update

D. Scott, H. P. Zaveri, Valerie K. Jordan, 2015 .

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotypeâ€“phenotype correlation

Michael F. Wangler, David T. Miller, B. Korf, 2019 .

Duplication of HEY2 in cardiac and neurologic development

J. Rosenfeld, S. Lalani, D. Scott, 2015, American journal of medical genetics. Part A.

1 p 36 deletion syndrome : an update

D. Scott, H. P. Zaveri, Valerie K. Jordan, 2015 .

Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return.

J. Rosenfeld, S. Lalani, U. Kini, 2023, European Journal of Human Genetics.

Construction of P1-derived artificial chromosome and yeast artificial chromosome contigs encompassing the DFNB7 and DFNB11 region of chromosome 9q13-21.

V. Sheffield, M. Lovett, C. Morton, 1997, Genome research.

A 1q42 deletion involving DISC1, DISC2, and TSNAX in an autism spectrum disorder

S. Cheung, D. Scott, M. Proud, 2009, American journal of medical genetics. Part A.

Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia

S. Cheung, C. Bacino, F. Scaglia, 2009, American journal of medical genetics. Part A.

A Comprehensive Assessment of Co-occurring Birth Defects among Infants with Non-Syndromic Anophthalmia or Microphthalmia

A J Agopian, C. Schaaf, A. Scheuerle, 2020, Ophthalmic epidemiology.

Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay

J. Rosenfeld, S. Mostafavi, K. Worley, 2023, Journal of Medical Genetics.

MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development.

Ankita Patel, S. Cheung, J. Belmont, 2013, Human Molecular Genetics.

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.