D. Krakow

发表

Dysregulation of chondrogenesis in human cleidocranial dysplasia.

Brendan H. Lee, Q. Zheng, E. Sebald, 2005, American journal of human genetics.

Use of three‐dimensional ultrasound imaging in the diagnosis of prenatal‐onset skeletal dysplasias

D. Rimoin, D. Krakow, L. Platt, 2003, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Diagnostic utility of transcriptome sequencing for rare Mendelian diseases

Neil H. Parker, Jeremy D. Woods, Undiagnosed Diseases Network, 2019, Genetics in Medicine.

Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis

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

Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome

D. Nickerson, M. Bamshad, D. Krakow, 2016, Scientific Reports.

Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans

F. Glorieux, P. Byers, J. Troendle, 2007, Human mutation.

Exome sequencing identifies PDE4D mutations in acrodysostosis.

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

Other Type II Collagen Disorders

D. Krakow, 2018 .

Pediatric Outcomes Data Collection Instrument is a Useful Patient-Reported Outcome Measure for Physical Function in Children with Osteogenesis Imperfecta

J. Krischer, F. Glorieux, Mahim Jain, 2019, Genetics in Medicine.

The skeleton and musculature on foetal MRI

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

Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis

D. Krakow, Bing Li, D. Cohn, 2016, PLoS genetics.

Intervertebral disc degeneration is rescued by TGFβ/BMP signaling modulation in an ex vivo filamin B mouse model

S. Robertson, D. Krakow, J. Zieba, 2022, Bone Research.

Dominant‐negative SOX9 mutations in campomelic dysplasia

M. Bamshad, D. Eyre, D. Krakow, 2019, Human mutation.

Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia

D. Krakow, B. Nilius, B. Boyce, 2010, American journal of medical genetics. Part A.

Osteogenesis imperfecta

P. Byers, N. Bishop, A. Paepe, 2017, Nature Reviews Disease Primers.

Radiographic findings and Gs-alpha bioactivity studies and mutation screening in acrodysostosis indicate a different etiology from pseudohypoparathyroidism

D. Krakow, V. Tolo, R. Lachman, 2001, Pediatric Radiology.

Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210.

Andrew D Bolton, Danielle K. Manning, S. Nelson, 2010, The New England journal of medicine.

Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling

D. Nickerson, M. Bamshad, I. Thiffault, 2020, EMBO molecular medicine.

Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia

D. Nickerson, M. Bamshad, D. Krakow, 2017, Cilia.

Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome.

S. Nelson, B. Merriman, D. Rimoin, 2009, American journal of human genetics.

Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene.

D. Rimoin, B. Powell, D. Krakow, 2003, American journal of human genetics.

Femur length and trisomy 21: impact of gestational age on screening efficiency

R. Snijders, D. Krakow, K. Gregory, 2000, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Chapter 105 – Heritable Diseases of Connective Tissue

D. Krakow, 2017 .

Somatic mosaicism for a lethal TRPV4 mutation results in non‐lethal metatropic dysplasia

D. Nickerson, M. Bamshad, D. Krakow, 2016, American journal of medical genetics. Part A.

105 – Heritable Diseases of Connective Tissue

D. Krakow, 2013 .

The importance of conventional radiography in the mutational analysis of skeletal dysplasias (the TRPV4 mutational family)

S. Nemec, D. Rimoin, D. Krakow, 2011, Pediatric Radiology.

The skeletal dysplasias

D. Rimoin, D. Krakow, 2010, Genetics in Medicine.

Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.

D. Rimoin, I. Holm, C. Bacino, 2009, American journal of human genetics.

Pregnancy in women with osteogenesis imperfecta: Pregnancy characteristics, maternal, and neonatal outcomes.

J. Krischer, V. Sutton, Brendan H. Lee, 2021, American journal of obstetrics & gynecology MFM.

Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse

R. Cantor, D. Krakow, W. Ahmad, 1998, Nature Genetics.

4‐PBA Treatment Improves Bone Phenotypes in the Aga2 Mouse Model of Osteogenesis Imperfecta

B. Dawson, C. Ambrose, Brendan H. Lee, 2022, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Connective tissue alterations in Fkbp10-/- mice.

Brendan H. Lee, D. Eyre, Yuqing Chen, 2014, Human molecular genetics.

The Skeletal Dysplasias

D. Rimoin, W. Wilcox, D. Krakow, 2007, Annals of the New York Academy of Sciences.

Distinct, autosomal recessive form of spondyloepimetaphyseal dysplasia segregating in an inbred Pakistani kindred.

D. Rimoin, D. Krakow, W. Ahmad, 1998, American journal of medical genetics.

A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan.

S. Nelson, B. Merriman, D. Rimoin, 2009, American journal of human genetics.

Guidelines for the prenatal diagnosis of fetal skeletal dysplasias

D. Rimoin, D. Krakow, R. Lachman, 2009, Genetics in Medicine.

Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene.

W. Reardon, P. Byers, E. Petty, 1999, American journal of human genetics.

Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy.

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

Russell-Silver Syndrome

D. Krakow, 2018 .

Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.

D. Sillence, A. Munnich, J. Casanova, 2011, American journal of human genetics.

The PTH/PTHrP-SIK3 pathway affects skeletogenesis through altered mTOR signaling

Jeremy D. Woods, D. Krakow, Hane Lee, 2018, Science Translational Medicine.

Fetal cardiac rhabdomyomas treated with maternal sirolimus

M. Sklansky, D. Krakow, Joyce Y. Wu, 2019, Prenatal Diagnosis.

Regulation of ciliary function by fibroblast growth factor signaling identifies FGFR3-related disorders achondroplasia and thanatophoric dysplasia as ciliopathies

D. Krakow, G. Jansen, Ivan Duran, 2018, Human molecular genetics.

An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome.

D. Nickerson, M. Bamshad, A. Hampl, 2016, Human molecular genetics.

Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome

S. Nelson, R. Vallee, Sulin Wu, 2015, Nature Communications.

Genes uniquely expressed in human growth plate chondrocytes uncover a distinct regulatory network

D. Krakow, Bing Li, D. Cohn, 2017, BMC Genomics.

Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita.

D. Rimoin, D. Krakow, D. Cohn, 2001, American journal of medical genetics.

Osteogenesis imperfecta

P. Byers, N. Bishop, A. Paepe, 2012, Nature Reviews Disease Primers.

Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta.

P. Byers, Brendan H. Lee, D. Eyre, 2010, American journal of human genetics.

CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta

John J. Mitchell, A. Green, P. Byers, 2008, Human mutation.

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.

Lisa T. Emrick, Ivan K. Chinn, Denise G. Lanza, 2019, American journal of human genetics.

ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-β bioavailability regulation

A. Munnich, Y. Crow, D. Krakow, 2008, Nature Genetics.

MED, COMP, multilayered and NEIN: an overview of multiple epiphyseal dysplasia

D. Rimoin, D. Krakow, D. Cohn, 2005, Pediatric Radiology.

Isolation of a new member of the ADP-ribosylation like factor gene family, ARL8, from a cartilage cDNA library.

E. Sebald, D. Krakow, D. Cohn, 2003, Gene.

Opsismodysplasia resulting from an insertion mutation in the SH2 domain, which destabilizes INPPL1

D. Nickerson, M. Bamshad, H. Kayserili, 2014, American journal of medical genetics. Part A.

Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia.

Emily H Turner, J. Shendure, J. Swanson, 2013, American journal of human genetics.

Patient-derived skeletal dysplasia induced pluripotent stem cells display abnormal chondrogenic marker expression and regulation by BMP2 and TGFβ1.

D. Rimoin, C. Svendsen, L. Ornelas, 2014, Stem cells and development.

Type XXVII collagen at the transition of cartilage to bone during skeletogenesis.

P. Byers, S. Wachsmann-Hogiu, W. Landis, 2007, Bone.

Atrial natriuretic peptide metabolism during pregnancy in the rat.

D. Krakow, Chander P Arora, L. Castro, 1994, American journal of obstetrics and gynecology.

FKBP10 (FKBP65 Protein), Osteogenesis Imperfecta and Bruck Syndrome

D. Krakow, Y. Alanay, 2014 .

Short Rib Thoracic Dysplasia With or Without Polydactyly

D. Krakow, 2018 .

The Osteochondrodysplasias

D. Krakow, F. Csukasi, 2018, Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism.

FGFR3 Disorders: Thanatophoric Dysplasia, Achondroplasia, and Hypochondroplasia

D. Krakow, 2018 .

Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short‐rib polydactyly type I, Saldino–Noonan type

D. Nickerson, M. Bamshad, D. Krakow, 2017, Clinical genetics.

International nomenclature and classification of the osteochondrodysplasias (1997) international working group on constitutional diseases of bone

D. Sillence, S. Mundlos, I. Kaitila, 1998 .

Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene.

Michael F. Wangler, L. Ala‐Kokko, M. Wangler, 2010, American journal of human genetics.

Evaluation of prenatal‐onset osteochondrodysplasias by ultrasonography: A retrospective and prospective analysis

D. Rimoin, W. Wilcox, D. Krakow, 2008, American journal of medical genetics. Part A.

Exclusion of the Ellis–van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes

D. Rimoin, W. Wilcox, D. Krakow, 2000, European Journal of Human Genetics.

A second locus for schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase‐like 1 (INPPL1)

W. Wilcox, D. Krakow, Hane Lee, 2015, American journal of medical genetics. Part A.

A new biometric: In utero growth curves for metacarpal and phalangeal lengths reveal an embryonic patterning ratio

J. Gornbein, D. Krakow, L. Platt, 2019, Prenatal diagnosis.

Connective tissue alterations in Fkbp10 2 / 2 mice

Brendan H. Lee, D. Eyre, Yuqing Chen, 2014 .

Generalized Connective Tissue Disease in Crtap-/- Mouse

P. Byers, Brendan H. Lee, D. Eyre, 2010, PloS one.

Coffee and pancreatic cancer: an analysis of international mortality data.

J. Stamler, D. Krakow, V. Persky, 1983, American journal of epidemiology.

The Erlenmeyer flask bone deformity in the skeletal dysplasias

D. Rimoin, D. Krakow, R. Lachman, 2009, American journal of medical genetics. Part A.

Routine measurement of amniotic fluid alpha-fetoprotein and acetylcholinesterase: the need for a reevaluation.

D. Krakow, L. Platt, N. Silverman, 2014, American journal of obstetrics and gynecology.

Bent bone dysplasia syndrome reveals nucleolar activity for FGFR2 in ribosomal DNA transcription.

D. Krakow, J. Rice, C. Neben, 2014, Human molecular genetics.

Mutations in FKBP10 Cause Recessive Osteogenesis Imperfecta and Bruck Syndrome

P. Beighton, Y. Gillerot, N. Elçioglu, 2010, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype

D. Sillence, S. Robertson, R. Hennekam, 2017, American Journal of Medical Genetics. Part A.

Localized chondro-ossification underlies joint dysfunction and motor deficits in the Fkbp10 mouse model of osteogenesis imperfecta

B. Dawson, R. Schweitzer, Brendan H. Lee, 2021, Proceedings of the National Academy of Sciences.

Fibroblast Growth Factors 1, 2, 17, and 19 Are the Predominant FGF Ligands Expressed in Human Fetal Growth Plate Cartilage

W. Wilcox, D. Krakow, P. Krejcí, 2007, Pediatric Research.

Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia.

D. Rimoin, L. Thompson, W. Wilcox, 1998, American journal of medical genetics.

Correction: Corrigendum: The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery

E. Marcotte, Tae Joo Park, J. Wallingford, 2016, Nature Genetics.

Biallelic mutations in LAMA5 disrupts a skeletal noncanonical focal adhesion pathway and produces a distinct bent bone dysplasia

D. Nickerson, M. Bamshad, D. Krakow, 2020, EBioMedicine.

Ehlers–Danlos arthrochalasia type (VIIA–B) – expanding the phenotype: from prenatal life through adulthood

G. Pals, A. De Paepe, D. Krakow, 2012, Clinical genetics.

Angulated femurs and the skeletal dysplasias: Experience of the International Skeletal Dysplasia Registry (1988–2006)

D. Rimoin, D. Krakow, Y. Alanay, 2007, American journal of medical genetics. Part A.

Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2

L. Ala‐Kokko, E. Faqeih, J. Hecht, 2012, American journal of medical genetics. Part A.

Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis.

L. Ala‐Kokko, D. Krakow, D. Prockop, 2000, American journal of medical genetics.

Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia

J. Kere, L. Ala‐Kokko, M. Warman, 2003, European Journal of Human Genetics.

Correction: Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis

D. Krakow, D. Cohn, R. Pogue, 2016, PLoS genetics.

Delivery by Cesarean Section is not Associated With Decreased at-Birth Fracture Rates in Osteogenesis Imperfecta

J. Krischer, F. Glorieux, P. Byers, 2015, Genetics in Medicine.

Fetal alcohol syndrome: a phenocopy of spondylocarpotarsal synostosis syndrome?

C. Boerkoel, D. Krakow, R. Rupps, 2010, Clinical dysmorphology.

Skeletal dysplasias.

Deborah Krakow, D. Krakow, 2015, Clinics in perinatology.

Nosology and Classification of Genetic Skeletal Disorders: 2010 Revision

Sheila Unger, Andrea Superti-Furga, Stefan Mundlos, 2011, American journal of medical genetics. Part A.

Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2.

Stefan Mundlos, Joachim Nickel, Katherine Dawson, 2005, The Journal of clinical investigation.

Nosology and classification of genetic skeletal disorders: 2019 revision

D. Sillence, S. Mundlos, S. Robertson, 2019, American journal of medical genetics. Part A.

Chapter 160 – The Dysostoses

D. Krakow, 2013 .

Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies

D. Nickerson, M. Bamshad, D. Krakow, 2018, Human mutation.

Emergency department use among postpartum women with mental health disorders

D. Krakow, M. Richards, Y. Afshar, 2020, American Journal of Obstetrics & Gynecology MFM.

Autosomal dominant multiple pterygium syndrome is caused by mutations in MYH3

J. Shendure, R. Gibbs, D. Nickerson, 2015, bioRxiv.

Autosomal dominant multiple pterygium syndrome is caused by mutations in MYH3

J. Shendure, R. Gibbs, D. Nickerson, 2015, bioRxiv.

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.

Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia.

M. Brown, S. Robertson, T. Strom, 2016, American journal of human genetics.

TGFβ and BMP Dependent Cell Fate Changes Due to Loss of Filamin B Produces Disc Degeneration and Progressive Vertebral Fusions

K. Lyons, D. Krakow, J. Zieba, 2016, PLoS genetics.

Title TGF beta and BMP Dependent Cell Fate Changes Due to Loss of Filamin B Produces Disc Degeneration and Progressive Vertebral Fusions Permalink

K. Lyons, D. Krakow, J. Zieba, 2016 .

Dominance of SOX9 function over RUNX2 during skeletogenesis

Brendan H. Lee, Q. Zheng, E. Sebald, 2006, Proceedings of the National Academy of Sciences.

A locus for spondylocarpotarsal synostosis syndrome at chromosome 3p14

R. Cantor, K. Taylor, Xiuqing Guo, 2004, Journal of Medical 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.

Mutations in FLNB cause boomerang dysplasia

S. Robertson, M. Bialer, D. Krakow, 2005, Journal of Medical Genetics.

The inositol phosphatase SHIP2 enables sustained ERK activation downstream of FGF receptors by recruiting Src kinases

M. Piskacek, D. Krakow, C. Erneux, 2018, Science Signaling.

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.

Genetic evaluation of suspected osteogenesis imperfecta (OI)

P. Byers, D. Krakow, M. Pepin, 2006, Genetics in Medicine.

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.

Expanded clinical spectrum of spondylocarpotarsal synostosis syndrome and possible manifestation in a heterozygous father

D. Mitter, D. Krakow, P. Meinecke, 2008, American journal of medical genetics. Part A.

A newly recognized syndrome with characteristic facial features, skeletal dysplasia, and developmental delay

D. Krakow, W. Baratela, M. Bober, 2012, American journal of medical genetics. Part A.

Mutations in two regions of FLNB result in atelosteogenesis I and III

S. Robertson, D. Rimoin, J. Roume, 2006, Human mutation.

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

S. Robertson, T. de Ravel, H. Firth, 2006, Journal of Medical Genetics.

Terminal phalangeal accessory ossification center of the thumb: an additional radiographic finding in Larsen syndrome

D. Krakow, Y. Alanay, G. Utine, 2006, Pediatric Radiology.

Clinical and radiographic delineation of Bent Bone Dysplasia‐FGFR2 type or Bent Bone Dysplasia with Distinctive Clavicles and Angel‐shaped Phalanges

A. Elliott, W. Wilcox, D. Krakow, 2016, American journal of medical genetics. Part A.

IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome.

D. Nickerson, M. Bamshad, D. Krakow, 2016, Human molecular genetics.

Proteomic analyses of signalling complexes associated with receptor tyrosine kinase identify novel members of fibroblast growth factor receptor 3 interactome.

D. Krakow, M. Varecha, P. Krejcí, 2018, Cellular signalling.

Sprouty 2 disturbs FGFR3 degradation in thanatophoric dysplasia type II: a severe form of human achondroplasia.

Yoon-Jae Cho, D. Krakow, C. Degnin, 2008, Cellular signalling.

Exome Sequencing Identifies PDE 4 D Mutations in Acrodysostosis

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

Analysis of clones from a human cartilage cDNA library provides insight into chondrocyte gene expression and identifies novel candidate genes for the osteochondrodysplasias.

E. Sebald, D. Krakow, D. Cohn, 2003, Molecular genetics and metabolism.

Revisiting Skeletal Dysplasias in the Newborn.

D. Krakow, Alison Chu, Seth J. Langston, 2021, NeoReviews.

49 – DTDST Dysplasia (Including AOII and Achondrogenesis IB)

D. Krakow, 2018 .

Clinical Presentation of Coronavirus Disease 2019 (COVID-19) in Pregnant and Recently Pregnant People

W. J. Boscardin, G. Aldrovandi, D. Krakow, 2020, Obstetrics and gynecology.

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.

Collagen duplicate genes of bone and cartilage participate during regeneration of zebrafish fin skeleton.

D. Krakow, A. Bombarely, J. Becerra, 2015, Gene expression patterns : GEP.

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.

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

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

The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery

E. Marcotte, Tae Joo Park, J. Wallingford, 2016, Nature Genetics.

Diagnostic utility of transcriptome sequencing for rare Mendelian diseases

Neil H. Parker, Jeremy D. Woods, S. Nelson, 2019, Genetics in Medicine.

WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia.

A. Munnich, D. Rimoin, Sulin Wu, 2013, American journal of human genetics.

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.

46 – Atelosteogenesis Disorders

D. Krakow, 2018 .

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.

Localization of a multiple synostoses-syndrome disease gene to chromosome 17q21-22.

R. Cantor, D. Rimoin, D. Krakow, 1998, American journal of human genetics.

Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling.

K. Lyons, D. Chitayat, C. Curry, 2012, American journal of human genetics.

Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia

A. Munnich, K. Devriendt, R. Hennekam, 2011, Journal of Medical Genetics.

Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".

V. Sutton, M. Tartaglia, R. Pauli, 2017, American journal of human genetics.

Innovations in MD-only physician-scientist training: experiences from the Burroughs Wellcome Fund physician-scientist institutional award initiative.

M. Gladwin, V. Arora, L. Muglia, 2021, Journal of Clinical Investigation.

Cartilage-selective genes identified in genome-scale analysis of non-cartilage and cartilage gene expression

Allen Day, Deborah Krakow, Stanley F Nelson, 2007, BMC Genomics.

WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta.

R. Gibbs, O. Mäkitie, Philippe M. Campeau, 2013, The New England journal of medicine.

Fkbp10 Deletion in Osteoblasts Leads to Qualitative Defects in Bone

C. Ambrose, P. Fratzl, Brendan H. Lee, 2017, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

A Chaperone Complex Formed by HSP47, FKBP65, and BiP Modulates Telopeptide Lysyl Hydroxylation of Type I Procollagen

Brendan H. Lee, D. Eyre, D. Krakow, 2017, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

GDF5 is a second locus for multiple-synostosis syndrome.

S. Mundlos, John L. Williams, E. Sebald, 2006, American journal of human genetics.

Relapsing polychondritis and pregnancy: normal fetal outcome despite maternal flares.

G. Firestein, D. Krakow, J. Greenspoon, 1996, Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases.

Blood pressure in adults with short stature skeletal dysplasias

J. Hoover-Fong, J. Hecht, D. Krakow, 2019, 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.

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.

First‐Trimester Abdominal Circumference (Versus Crown Rump Length) Improves Precision in Inter‐ and Intraobserver Variability

H. Cuckle, D. Krakow, L. Platt, 2019, Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine.

Skeletal diseases caused by mutations in PTH1R show aberrant differentiation of skeletal progenitors due to dysregulation of DEPTOR

D. Krakow, J. Zieba, J. Becerra, 2023, Frontiers in Cell and Developmental Biology.

Identification of human FEM1A, the ortholog of a C. elegans sex-differentiation gene.

E. Sebald, D. Krakow, D. Cohn, 2001, Gene.

Clubfoot (Talipes Equinovarus) and Clenched Hands

D. Krakow, 2018 .

Prenatal and postnatal findings in serpentine fibula polycystic kidney syndrome and a review of the NOTCH2 spectrum disorders

D. Krakow, D. Pugash, Ashley Kim, 2014, American journal of medical genetics. Part A.

Improvement in ventriculomegaly following cervicomedullary decompressive surgery in children with achondroplasia and foramen magnum stenosis

D. Krakow, B. Pressman, J. Chan, 2020, American journal of medical genetics. Part A.

Osteogenesis Imperfecta and Pregnancy

D. Krakow, 2014 .

Nosology of genetic skeletal disorders: 2023 revision

D. Sillence, S. Mundlos, S. Robertson, 2023, American journal of medical genetics. Part A.

Gender representation of speakers at the Society for Maternal-Fetal Medicine postgraduate courses: a 20-year review.

D. Krakow, Y. Afshar, C. Han, 2020, American journal of obstetrics & gynecology MFM.

NRP1 haploinsufficiency predisposes to the development of Tetralogy of Fallot

M. Iruela-Arispe, D. Krakow, Ivan Duran, 2018, American journal of medical genetics. Part A.

A transcriptional profile of human fetal cartilage.

E. Sebald, D. Krakow, D. Cohn, 2004, Matrix biology : journal of the International Society for Matrix Biology.

Effect of hemodialysis on uterine and umbilical artery Doppler flow velocity waveforms.

D. Krakow, L. Castro, J. Schwieger, 1994, American journal of obstetrics and gynecology.

Confocal and two-photon imaging in cartilage: expression patterns of Filamin A and B

Daniel L. Farkas, Sebastian Wachsmann-Hogiu, Deborah Krakow, 2004, SPIE BiOS.

Multiphoton, confocal, and lifetime microscopy for molecular imaging in cartilage

Qiyin Fang, Daniel L. Farkas, Sebastian Wachsmann-Hogiu, 2005, SPIE BiOS.

Proceedings of the 2019 Santa Fe Bone Symposium: New Concepts in the Care of Osteoporosis and Rare Bone Diseases.

N. Watts, J. Bilezikian, D. Krakow, 2019, Journal of clinical densitometry : the official journal of the International Society for Clinical Densitometry.

Diagnosis of fetal skeletal dysplasias

A. Offiah, D. Krakow, C. Hall, 2012 .

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.

Oro-dental and cranio-facial characteristics of osteogenesis imperfecta type V.

F. Glorieux, Mahim Jain, V. Sutton, 2019, European journal of medical genetics.

Dental and facial characteristics of osteogenesis imperfecta type V

F. Glorieux, Mahim Jain, V. Sutton, 2018, bioRxiv.

Genes uniquely expressed in human growth plate chondrocytes uncover a distinct regulatory network

D. Krakow, D. Cohn, K. Balasubramanian, 2017, BMC Genomics.

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.

Growth characteristics in individuals with osteogenesis imperfecta in North America: results from a multicenter study

J. Krischer, F. Glorieux, P. Byers, 2018, Genetics in Medicine.

HSP47 and FKBP65 cooperate in the synthesis of type I procollagen.

Sulin Wu, D. Eyre, D. Krakow, 2015, Human molecular 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.

Radial Ray Deficiency

D. Krakow, 2018 .

An RNA aptamer restores defective bone growth in FGFR3-related skeletal dysplasia in mice

Yoshikazu Nakamura, T. Zikmund, D. Krakow, 2021, Science Translational Medicine.

The α2 chain of type IX collagen is essential for type IX collagen biosynthesis

D. Eyre, D. Krakow, D. Cohn, 2019, American journal of medical genetics. Part A.

Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

Gail Clement, Jie Huang, Inês Barroso, 2016, Nature Communications.

Postnatal growth retardation, facial dysmorphism, spondylocarpal synostosis, cardiac defect, and inner ear malformation (cardiospondylocarpofacial syndrome?)—A distinct syndrome?

A. Munnich, D. Krakow, V. Cormier-Daire, 2010, American journal of medical genetics. Part A.

Dynamic cervicomedullary cord compression and alterations in cerebrospinal fluid dynamics in children with achondroplasia: review of an 11-year surgical case series.

D. Rimoin, D. Krakow, B. Pressman, 2014, Journal of neurosurgery. Pediatrics.

RefilinB (FAM101B) targets FilaminA to organize perinuclear actin networks and regulates nuclear shape

S. Robertson, J. Hartwig, F. Nakamura, 2011, Proceedings of the National Academy of Sciences.

Frontometaphyseal dysplasia: Mutations in FLNA and phenotypic diversity

A. Green, S. Robertson, G. Mortier, 2006, American journal of medical genetics. Part A.

BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing.

S. Nelson, Zugen Chen, D. Rimoin, 2010, American journal of human genetics.

Prenatal diagnosis of Larsen syndrome caused by a mutation in the filamin B gene

N. Winer, A. Paumier, D. Krakow, 2009, Prenatal diagnosis.

MED resulting from recessively inherited mutations in the gene encoding calcium‐activated nucleotidase CANT1

D. Nickerson, M. Bamshad, D. Krakow, 2017, American journal of medical genetics. Part A.

Individual conditions grouped according to the international nosology and classification of genetic skeletal disorders

Francesca Forzano, Amaka C. Offiah, Deborah Krakow, 2012 .

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.

A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis

D. Nickerson, M. Bamshad, M. Regnier, 2017, Scientific Reports.

Spondylocarpotarsal synostosis: Long‐term follow‐up of a case due to FLNB mutations

N. Brunetti‐Pierri, Brendan H. Lee, D. Krakow, 2008, American journal of medical genetics. Part A.

Fibroblast growth factor receptor influences primary cilium length through an interaction with intestinal cell kinase

Juraj Bosák, A. Hampl, D. Krakow, 2019, Proceedings of the National Academy of Sciences.

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

Tom R. Gaunt, Thomas M. Keane, Colin A. Johnson, 2015, Nature Communications.

Disease‐associated mutations in the actin‐binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity

S. Robertson, K. Devriendt, G. Scarano, 2012, Human mutation.

60 – Spinal Abnormalities and Klippel-Feil Syndrome

D. Krakow, 2018 .

WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta identify a key WNT ligand regulating bone mass

R. Gibbs, O. Mäkitie, Philippe M. Campeau, 2013 .

Pediatric Outcomes Data Collection Instrument is a Useful Patient-Reported Outcome Measure for Physical Function in Children with Osteogenesis Imperfecta

J. Krischer, F. Glorieux, Mahim Jain, 2019, Genetics in Medicine.

Patterns of Peripartum Depression and Anxiety During the Pre-Vaccine COVID-19 Pandemic

D. Krakow, Liwen Xu, J. Boscardin, 2022, Research square.

Endothelium-Derived Relaxing Factor Inhibition and the Pressor Response to Norepinephrine in the Pregnant Rat

D. Krakow, Chander P Arora, L. Castro, 1994, Obstetrics and Gynecology.

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.

Use of three‐dimensional ultrasonography in differentiating craniosynostosis from severe fetal molding.

D. Krakow, L. Platt, T. Santulli, 2001, Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine.

Genetic aspects of ovarian cancer

B. Karlan, D. Krakow, 1994, Current Opinion in Obstetrics and Gynecology.

Spondyloepiphyseal Dysplasia Congenita

D. Krakow, 2018 .

Polyvalvular disease in a fetus with normal chromosomes.

D. Krakow, S. Pepkowitz, Michelle S. Miller, 2007, Congenital heart disease.

The skeletal dysplasias

D. Rimoin, D. Krakow, 2010, Genetics in Medicine.

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.

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport dystrophy with impaired retrograde intraflagellar transport

Colin A. Johnson, P. Scambler, S. Letteboer, 2021 .

Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome.

A. Borowsky, D. Krakow, L. Dillard-Telm, 2007, Human molecular genetics.

Lethal Skeletal Dysplasia in Mice and Humans Lacking the Golgin GMAP-210

Andrew D Bolton, Danielle K. Manning, J. Moran, 2022 .

Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome.

S. Nelson, B. Merriman, D. Rimoin, 2009, American journal of human genetics.

Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.

D. Sillence, A. Munnich, J. Casanova, 2011, American journal of human genetics.

Altered Sox9 and FGF signaling gene expression in Aga2 OI mice negatively affects linear growth

D. Krakow, Jorge H. Martin, Lisette Nevarez, 2023, JCI insight.

Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".

V. Sutton, M. Tartaglia, R. Pauli, 2017, American journal of human genetics.

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

S. Robertson, H. Firth, D. Rimoin, 2006, Journal of Medical 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.

Abnormal Hands: Focus on the Thumbs

D. Krakow, 2018 .

Routine measurement of amniotic fluid alpha-fetoprotein and acetylcholinesterase: the need for a reevaluation.

D. Krakow, L. Platt, N. Silverman, 2014, American journal of obstetrics and gynecology.