L. Hudgins

发表

Clinical assessment incorporating a personal genome

Alexander A. Morgan, Dmitry Pushkarev, N. Neff, 2010, The Lancet.

Recommendations for the integration of genomics into clinical practice

D. Ledbetter, I. Krantz, N. Spinner, 2016, Genetics in Medicine.

FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation

Alexander G Bassuk, William B Dobyns, I. Krantz, 2009, Nature Genetics.

ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes

D. Nickerson, M. Bamshad, L. Hudgins, 2018, Human mutation.

Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis

C. Cremers, W. Reardon, H. Brunner, 1999, Nature Genetics.

Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood

H. C. Fan, S. Quake, L. Hudgins, 2008, Proceedings of the National Academy of Sciences.

Evidence That Personal Genome Testing Enhances Student Learning in a Course on Genomics and Personalized Medicine

Konrad J. Karczewski, Keyan Salari, Kelly E. Ormond, 2013, PloS one.

Challenges in the clinical application of whole-genome sequencing

Euan A Ashley, Russ B Altman, Atul J Butte, 2010, The Lancet.

Genetic Counseling and Screening of Consanguineous Couples and Their Offspring: Recommendations of the National Society of Genetic Counselors

D. L. Doyle, L. Hudgins, A. Motulsky, 2002, Journal of Genetic Counseling.

Increased body mass in infancy and early toddlerhood in Angelman syndrome patients with uniparental disomy and imprinting center defects

L. Hudgins, J. Bernstein, M. Brennan, 2015, American journal of medical genetics. Part A.

Cornelia de Lange syndrome in diverse populations

A. R. Porras, I. Krantz, E. Roeder, 2019, American journal of medical genetics. Part A.

Further Delineation of Deletion 1p36 Syndrome in 60 Patients: A Recognizable Phenotype and Common Cause of Developmental Delay and Mental Retardation

C. Romano, E. Zackai, A. Battaglia, 2008, Pediatrics.

Horseshoe kidney and a rare TSC2 variant in two unrelated individuals with tuberous sclerosis complex

L. Hudgins, J. Bernstein, H. Northrup, 2011, American journal of medical genetics. Part A.

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.

Clinical and mutational spectrum of Mowat-Wilson syndrome.

I. Krantz, K. Devriendt, H. Firth, 2005, European journal of medical genetics.

Consanguinity and the risk of congenital heart disease

L. Hudgins, A. Bittles, J. Shieh, 2012, American journal of medical genetics. Part A.

Detection Rates for Aneuploidy by First-Trimester and Sequential Screening

L. Hudgins, A. Hull, M. Norton, 2015, Obstetrics and gynecology.

Prenatal genetic screening and diagnosis for pediatricians

L. Hudgins, C. Cunniff, 2010, Current opinion in pediatrics.

Ectopia lentis as the presenting and primary feature in Marfan syndrome

H. Hoyme, L. Hudgins, J. Bernstein, 2011, American journal of medical genetics. Part A.

Medical and graduate students' attitudes toward personal genomics

K. Ormond, H. Greely, L. Hudgins, 2011, Genetics in Medicine.

The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome

L. Hudgins, C. Eng, K. Leppig, 2001, Journal of Medical Genetics.

Developing a conceptual, reproducible, rubric-based approach to consent and result disclosure for genetic testing by clinicians with minimal genetics background

Seema M Jamal, K. Ormond, L. Hudgins, 2018, Genetics in Medicine.

Best ethical practices for clinicians and laboratories in the provision of noninvasive prenatal testing

K. Ormond, H. Greely, L. Hudgins, 2013, Prenatal diagnosis.

Patient preferences for prenatal testing of microdeletion and microduplication syndromes

L. Hudgins, Y. Blumenfeld, Elise Calonico, 2016, Prenatal diagnosis.

Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog

Y. Lau, L. Hudgins, L. Racacho, 2009, European Journal of Human Genetics.

Preimplantation embryo development in the mouse: Role of histidine decarboxylase

L. Hudgins, S. Dey, S. Mukerjee, 1982 .

The Importance of Minor Anomalies in the Evaluation of the Newborn

L. Hudgins, M. Adam, 2003 .

Partial ATRX gene duplication causes ATR‐X syndrome

R. Stevenson, C. Schwartz, R. Pagon, 2009, American journal of medical genetics. Part A.

Clinical features and management issues in Mowat–Wilson syndrome

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

Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders

J. Rosenfeld, J. Lupski, J. Belmont, 2017, Genome Medicine.

Recommendations for the integration of genomics into clinical practice

D. Ledbetter, I. Krantz, N. Spinner, 2016, Genetics in Medicine.

Report of two patients and further characterization of interstitial 9p13 deletion—A rare but recurrent microdeletion syndrome?

L. Hudgins, A. Cherry, A. Niemi, 2012, American journal of medical genetics. Part A.

Neonatal Presentations of CHARGE Syndrome and VATER/VACTERL Association

L. Hudgins, J. Kaplan, 2008 .

The Genetic Approach to Hypotonia in the Neonate

L. Hudgins, N. Zadeh, 2009 .

Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation

D. Nickerson, M. Bamshad, L. Hudgins, 2018, American journal of medical genetics. Part A.

Attitudes of Mothers of Children with Down Syndrome Towards Noninvasive Prenatal Testing

K. Ormond, L. Hudgins, L. Slattery, 2014, Journal of Genetic Counseling.

Nuchal translucency measurement in fetuses with spinal muscular atrophy

L. Hudgins, M. Norton, N. Zadeh, 2011, Prenatal diagnosis.

Current controversies in prenatal diagnosis 2: Cell‐free DNA prenatal screening should be used to identify all chromosome abnormalities

L. Hudgins, L. Chitty, M. Norton, 2018, Prenatal diagnosis.

NIPT in a Clinical Setting: An analysis of Uptake in the First Months of Clinical Availability

L. Hudgins, V. Chock, Joanne Taylor, 2014, Journal of Genetic Counseling.

The Pediatric Intern Retreat: 20‐year Evolution of a Continuing Investment

L. Hudgins, E. Klein, E. Marcuse, 2000, Academic medicine : journal of the Association of American Medical Colleges.

Neonatal pulmonary arterial hypertension and Noonan syndrome: Two fatal cases with a specific RAF1 mutation

J. Feinstein, L. Hudgins, W. Benitz, 2015, American journal of medical genetics. Part A.

Erratum: Further Delineation of Deletion 1p36 Syndrome in 60 Patients: A Recognizable Phenotype and Common Cause of Developmental Delay and Mental Retardation( Pediatrics (2008) 121 (404-410))

C. Romano, E. Zackai, H. Hoyme, 2008 .

Clues to an early diagnosis of Kallmann syndrome

L. Hudgins, J. Kaplan, Andrea C Kwan, 2010, American journal of medical genetics. Part A.

9q22.3 Microdeletion

L. Hudgins, Eric A Muller, 2014 .

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.

Noninvasive prenatal diagnosis: pregnant women's interest and expected uptake

K. Ormond, H. Greely, L. Hudgins, 2011, Prenatal diagnosis.

The Decision to Continue a Pregnancy Affected by Down Syndrome: Timing of Decision and Satisfaction with Receiving a Prenatal Diagnosis

L. Hudgins, A. Hawkins, Joanne Taylor, 2013, Journal of Genetic Counseling.

Novel X‐linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility due to filamin A substitution G1576R

L. Hudgins, Alicia A Braxton, R. Person, 2016, American journal of medical genetics. Part A.

Terminal deletion of 6p results in a recognizable phenotype

H. Hoyme, L. Hudgins, A. Cherry, 2005, American journal of medical genetics. Part A.

RASopathies: A significant cause of polyhydramnios?

S. Hintz, L. Hudgins, Y. Blumenfeld, 2020, Prenatal diagnosis.

Noninvasive Prenatal Diagnosis of Single-Gene Disorders by Use of Droplet Digital PCR.

Hojae Lee, Stephen R Quake, S. Quake, 2018, Clinical chemistry.

Lateral meningocele syndrome: Vertical transmission and expansion of the phenotype

R. Barth, L. Hudgins, L. Bird, 2005, American journal of medical genetics. Part A.

Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling

W. Chung, J. Mulliken, R. Helaers, 2017, Circulation.

Autosomal dominant microtia and ocular coloboma: New syndrome or an extension of the oculo‐auriculo‐vertebral spectrum?

H. Hoyme, L. Hudgins, A. Beck, 2005, American journal of medical genetics. Part A.

Variables Influencing Pregnancy Termination Following Prenatal Diagnosis of Fetal Chromosome Abnormalities

Anne Hawkins, L. Hudgins, A. Hawkins, 2013, Journal of Genetic Counseling.

Prenatal treatment of ornithine transcarbamylase deficiency.

S. Hintz, D. Lyell, L. Hudgins, 2018, Molecular genetics and metabolism.

De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features.

Ellen F. Macnamara, Colleen E. Wahl, J. Rosenfeld, 2018, American journal of human genetics.

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies

Joshua L. Deignan, Jessie R Jackson, E. Zackai, 2015, European Journal of Human Genetics.

Terminal 22q deletion syndrome: a newly recognized cause of speech and language disability in the autism spectrum.

S. Schwartz, H. Hoyme, L. Hudgins, 2004, Pediatrics.

Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities

L. Hudgins, Louanne Hudgins, M. Manning, 2010, Genetics in Medicine.

Use of array-based technology in the practice of medical genetics

L. Hudgins, M. Manning, 2007, Genetics in Medicine.

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

J. Rosenfeld, A. Breman, C. Shaw, 2018, Genetics in Medicine.

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

I. Krantz, H. Hakonarson, E. Roeder, 2014, Human molecular genetics.

J. Sebat, C. Corsello, T. de Ravel, 2017, Journal of Medical Genetics.

Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay

L. Hudgins, S. Aradhya, D. Stockton, 2012, American journal of medical genetics. Part A.

KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants

Marni J. Falk, Ellen F. Macnamara, J. Schuurs-Hoeijmakers, 2018, Genetics in Medicine.

De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay.

Joshua L. Deignan, S. Nelson, W. Grody, 2015, American journal of human genetics.

A common molecular mechanism underlies two phenotypically distinct 17p13.1 microdeletion syndromes.

M. Shago, P. Hainaut, L. Hudgins, 2010, American journal of human genetics.

Perinatal features of the RASopathies: Noonan syndrome, Cardiofaciocutaneous syndrome and Costello syndrome

S. Hintz, L. Hudgins, M. Brennan, 2014, American journal of medical genetics. Part A.

A novel missense variant in the GLI3 zinc finger domain in a family with digital anomalies

L. Hudgins, James K. Chen, N. Gomez-Ospina, 2017, American journal of medical genetics. Part A.

Genomics in the clinic: ethical and policy challenges in clinical next-generation sequencing programs at early adopter USA institutions.

R. Altman, L. Hudgins, S. Galli, 2015, Personalized medicine.

Analysis of the size distributions of fetal and maternal cell-free DNA by paired-end sequencing.

Stephen R Quake, H Christina Fan, H. C. Fan, 2010, Clinical chemistry.

Prenatally diagnosed omphalocele: characteristics associated with adverse neonatal outcomes

S. Hintz, K. Sylvester, L. Hudgins, 2019, Journal of Perinatology.

Comment The personal genome — the future of personalised medicine ?

Dmitry Pushkarev, N. Neff, K. Sangkuhl, 2010 .

Exome sequencing for the diagnosis of 46,XY disorders of sex development.

S. Nelson, L. Hudgins, M. Adam, 2015, The Journal of clinical endocrinology and metabolism.

Nonivasive prenatal diagnosis of single-gene disorders using droplet digital PCR

S. Quake, S. Hintz, L. Hudgins, 2017, bioRxiv.

Diaphragmatic and Vocal Cord Paralyses Congenital Hypomyelination Neuropathy in a Newborn Infant: Unusual Cause of

J. Hahn, L. Hudgins, A. Madan, 2010 .

Congenital hypomyelination neuropathy in a newborn infant: unusual cause of diaphragmatic and vocal cord paralyses.

J. Hahn, L. Hudgins, A. Madan, 2001, Pediatrics.

Intracranial hemorrhage in infants and children with hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome).

P. Barnes, L. Hudgins, R. Mao, 2002, Pediatrics.

Cobblestone Malformation in LAMA2 Congenital Muscular Dystrophy (MDC1A)

A. Pandya, K. Mathews, L. Hudgins, 2020, Journal of neuropathology and experimental neurology.

Conservatively Managed Fetal Goiter: An Alternative to in utero Therapy

R. Barth, S. Hintz, L. Hudgins, 2013, Fetal Diagnosis and Therapy.

Detection of Sonographic Markers of Fetal Aneuploidy Depends on Maternal and Fetal Characteristics

L. Hudgins, M. Druzin, U. Chitkara, 2005, Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine.

Fibroblast Growth Factor Receptor 2 and Its Role in Caudal Appendage and Craniosynostosis

L. Hudgins, D. Sureka, 2010, The Journal of craniofacial surgery.

Correction: DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract

J. Rosenfeld, I. Krantz, M. Bainbridge, 2019, Genetics in Medicine.

Respiratory system involvement in Costello syndrome

L. Hudgins, M. Brennan, D. Stevenson, 2016, American journal of medical genetics. Part A.

Triplication of 8p22–8p23 in a patient with features similar to Kabuki syndrome

H. Hoyme, L. Hudgins, A. Cherry, 2006, American journal of medical genetics. Part A.

Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins.

H. Freeze, L. Hudgins, G. Enns, 2002, The Journal of pediatrics.

Knowledge, understanding, and uptake of noninvasive prenatal testing among Latina women

L. Hudgins, A. Hawkins, Joanne Taylor, 2015, Prenatal diagnosis.

Noninvasive prenatal diagnosis in a fetus at risk for methylmalonic acidemia

W. Koh, S. Quake, S. Hintz, 2014, Genetics in Medicine.

J. Rosenfeld, I. Krantz, M. Bainbridge, 2019, Genetics in Medicine.

The diagnostic utility of a genetics evaluation in children with pervasive developmental disorders

L. Hudgins, O. Abdul-Rahman, 2006, Genetics in Medicine.

Utilization of available prenatal screening and diagnosis: effects of the California screen program

L. Hudgins, Y. Blumenfeld, Y. El‐Sayed, 2012, Journal of Perinatology.

Clinical utility of array comparative genomic hybridization: uncovering tumor susceptibility in individuals with developmental delay.

C. Martin, L. Hudgins, M. Adam, 2009, The Journal of pediatrics.

Prenatally Diagnosed Cases of Binder Phenotype Complicated by Respiratory Distress in the Immediate Postnatal Period

R. Barth, S. Hintz, L. Hudgins, 2016, Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine.

A Multifaceted Mentoring Program for Junior Faculty in Academic Pediatrics

C. Sandborg, L. Hudgins, L. Bachrach, 2016, Teaching and learning in medicine.

Clinical whole-exome sequencing: are we there yet?

Jonathan A. Bernstein, Gregory M. Enns, Paldeep S. Atwal, 2014, Genetics in Medicine.

Developing a Conceptual, Reproducible, Rubric-Based Approach to Consent and Result Disclosure for Genetic Testing by Clinicians with Minimal Genetics Background

K. Ormond, L. Hudgins, M. Cho, 2018, Genetics in Medicine.

Medical genetics education for pediatrics residents: A brief report.

L. Hudgins, L. Huffman, R. W. Gates, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Familial cardiac valvulopathy due to filamin A mutation

D. Bernstein, L. Hudgins, J. Bernstein, 2011, American journal of medical genetics. Part A.

Kabuki syndrome: a review

L. Hudgins, M. Adam, L. Hudgins, 2004, Clinical genetics.

Clinical evaluation incorporating a personal genome

Russ B. Altman, Alexander A. Morgan, Rong Chen, 2010 .

Mutation risk associated with paternal and maternal age in a cohort of retinoblastoma survivors

L. Hudgins, R. Balise, R. Kleinerman, 2012, Human Genetics.

Whole-Exome/Genome Sequencing and Genomics

W. Grody, L. Hudgins, B. H. Thompson, 2013, Pediatrics.

Medical and graduate students' attitudes toward personal genomics

K. Ormond, H. Greely, L. Hudgins, 2011, Genetics in Medicine.

Consanguinity and the risk of congenital heart disease

L. Hudgins, A. Bittles, Joseph T C Shieh, 2012, American journal of medical genetics. Part A.

Kabuki Syndrome

L. Hudgins, M. Hannibal, Margaret P Adam, 2011 .

ERRATA

C. Romano, E. Zackai, H. Hoyme, 2008, Pediatrics.

Clinical utility of array comparative genomic hybridization: uncovering tumor susceptibility in individuals with developmental delay.

C. Martin, L. Hudgins, M. Adam, 2009, The Journal of pediatrics.